Incidental Mutation 'R1484:Brwd1'
| ID |
163352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brwd1
|
| Ensembl Gene |
ENSMUSG00000022914 |
| Gene Name |
bromodomain and WD repeat domain containing 1 |
| Synonyms |
5330419I02Rik, Wdr9, G1-403-16, D530019K20Rik, repro5 |
| MMRRC Submission |
039537-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1484 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
95793292-95883726 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 95829491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023631]
[ENSMUST00000023631]
[ENSMUST00000099502]
[ENSMUST00000099502]
[ENSMUST00000113829]
[ENSMUST00000113829]
[ENSMUST00000131322]
[ENSMUST00000131322]
[ENSMUST00000153398]
[ENSMUST00000153398]
|
| AlphaFold |
Q921C3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023631
|
| SMART Domains |
Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
WD40
|
175 |
214 |
1.3e-7 |
SMART |
|
WD40
|
217 |
256 |
2.26e-7 |
SMART |
|
WD40
|
259 |
302 |
1.83e-7 |
SMART |
|
WD40
|
311 |
352 |
3.82e1 |
SMART |
|
WD40
|
357 |
396 |
4.27e-8 |
SMART |
|
WD40
|
417 |
454 |
8.59e-1 |
SMART |
|
WD40
|
457 |
497 |
1.47e-6 |
SMART |
|
WD40
|
504 |
544 |
9.21e0 |
SMART |
|
low complexity region
|
660 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
868 |
N/A |
INTRINSIC |
|
low complexity region
|
906 |
927 |
N/A |
INTRINSIC |
|
BROMO
|
1156 |
1267 |
1.72e-6 |
SMART |
|
low complexity region
|
1277 |
1292 |
N/A |
INTRINSIC |
|
BROMO
|
1317 |
1422 |
2.65e-30 |
SMART |
|
low complexity region
|
1497 |
1513 |
N/A |
INTRINSIC |
|
low complexity region
|
1543 |
1558 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1574 |
1762 |
1.42e-9 |
PROSPERO |
|
low complexity region
|
1764 |
1775 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1857 |
2050 |
1.42e-9 |
PROSPERO |
|
low complexity region
|
2165 |
2174 |
N/A |
INTRINSIC |
|
low complexity region
|
2260 |
2270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000023631
|
| SMART Domains |
Protein: ENSMUSP00000023631
Gene: ENSMUSG00000022914
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
WD40
|
175 |
214 |
1.3e-7 |
SMART |
|
WD40
|
217 |
256 |
2.26e-7 |
SMART |
|
WD40
|
259 |
302 |
1.83e-7 |
SMART |
|
WD40
|
311 |
352 |
3.82e1 |
SMART |
|
WD40
|
357 |
396 |
4.27e-8 |
SMART |
|
WD40
|
417 |
454 |
8.59e-1 |
SMART |
|
WD40
|
457 |
497 |
1.47e-6 |
SMART |
|
WD40
|
504 |
544 |
9.21e0 |
SMART |
|
low complexity region
|
660 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
868 |
N/A |
INTRINSIC |
|
low complexity region
|
906 |
927 |
N/A |
INTRINSIC |
|
BROMO
|
1156 |
1267 |
1.72e-6 |
SMART |
|
low complexity region
|
1277 |
1292 |
N/A |
INTRINSIC |
|
BROMO
|
1317 |
1422 |
2.65e-30 |
SMART |
|
low complexity region
|
1497 |
1513 |
N/A |
INTRINSIC |
|
low complexity region
|
1543 |
1558 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1574 |
1762 |
1.42e-9 |
PROSPERO |
|
low complexity region
|
1764 |
1775 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1857 |
2050 |
1.42e-9 |
PROSPERO |
|
low complexity region
|
2165 |
2174 |
N/A |
INTRINSIC |
|
low complexity region
|
2260 |
2270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099502
|
| SMART Domains |
Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
WD40
|
175 |
214 |
1.3e-7 |
SMART |
|
WD40
|
217 |
256 |
2.26e-7 |
SMART |
|
WD40
|
259 |
302 |
1.83e-7 |
SMART |
|
WD40
|
311 |
352 |
3.82e1 |
SMART |
|
WD40
|
357 |
396 |
4.27e-8 |
SMART |
|
WD40
|
417 |
454 |
8.59e-1 |
SMART |
|
WD40
|
457 |
497 |
1.47e-6 |
SMART |
|
WD40
|
504 |
544 |
9.21e0 |
SMART |
|
low complexity region
|
660 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
868 |
N/A |
INTRINSIC |
|
low complexity region
|
906 |
927 |
N/A |
INTRINSIC |
|
BROMO
|
1156 |
1267 |
1.72e-6 |
SMART |
|
low complexity region
|
1277 |
1292 |
N/A |
INTRINSIC |
|
BROMO
|
1317 |
1422 |
2.65e-30 |
SMART |
|
low complexity region
|
1497 |
1513 |
N/A |
INTRINSIC |
|
low complexity region
|
1543 |
1558 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1574 |
1762 |
1.42e-9 |
PROSPERO |
|
low complexity region
|
1764 |
1775 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1857 |
2050 |
1.42e-9 |
PROSPERO |
|
low complexity region
|
2165 |
2174 |
N/A |
INTRINSIC |
|
low complexity region
|
2260 |
2270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099502
|
| SMART Domains |
Protein: ENSMUSP00000097101
Gene: ENSMUSG00000022914
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
WD40
|
175 |
214 |
1.3e-7 |
SMART |
|
WD40
|
217 |
256 |
2.26e-7 |
SMART |
|
WD40
|
259 |
302 |
1.83e-7 |
SMART |
|
WD40
|
311 |
352 |
3.82e1 |
SMART |
|
WD40
|
357 |
396 |
4.27e-8 |
SMART |
|
WD40
|
417 |
454 |
8.59e-1 |
SMART |
|
WD40
|
457 |
497 |
1.47e-6 |
SMART |
|
WD40
|
504 |
544 |
9.21e0 |
SMART |
|
low complexity region
|
660 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
868 |
N/A |
INTRINSIC |
|
low complexity region
|
906 |
927 |
N/A |
INTRINSIC |
|
BROMO
|
1156 |
1267 |
1.72e-6 |
SMART |
|
low complexity region
|
1277 |
1292 |
N/A |
INTRINSIC |
|
BROMO
|
1317 |
1422 |
2.65e-30 |
SMART |
|
low complexity region
|
1497 |
1513 |
N/A |
INTRINSIC |
|
low complexity region
|
1543 |
1558 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1574 |
1762 |
1.42e-9 |
PROSPERO |
|
low complexity region
|
1764 |
1775 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1857 |
2050 |
1.42e-9 |
PROSPERO |
|
low complexity region
|
2165 |
2174 |
N/A |
INTRINSIC |
|
low complexity region
|
2260 |
2270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113829
|
| SMART Domains |
Protein: ENSMUSP00000109460
Gene: ENSMUSG00000022914
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
WD40
|
175 |
214 |
1.3e-7 |
SMART |
|
WD40
|
217 |
256 |
2.26e-7 |
SMART |
|
WD40
|
259 |
302 |
1.83e-7 |
SMART |
|
WD40
|
311 |
352 |
3.82e1 |
SMART |
|
WD40
|
357 |
396 |
4.27e-8 |
SMART |
|
WD40
|
417 |
454 |
8.59e-1 |
SMART |
|
WD40
|
457 |
497 |
1.47e-6 |
SMART |
|
WD40
|
504 |
544 |
9.21e0 |
SMART |
|
low complexity region
|
660 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
868 |
N/A |
INTRINSIC |
|
low complexity region
|
906 |
927 |
N/A |
INTRINSIC |
|
BROMO
|
1156 |
1267 |
1.72e-6 |
SMART |
|
low complexity region
|
1277 |
1292 |
N/A |
INTRINSIC |
|
BROMO
|
1317 |
1422 |
2.65e-30 |
SMART |
|
low complexity region
|
1497 |
1513 |
N/A |
INTRINSIC |
|
low complexity region
|
1543 |
1558 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1574 |
1762 |
1.13e-9 |
PROSPERO |
|
low complexity region
|
1764 |
1775 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1857 |
2050 |
1.13e-9 |
PROSPERO |
|
low complexity region
|
2165 |
2174 |
N/A |
INTRINSIC |
|
low complexity region
|
2177 |
2188 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113829
|
| SMART Domains |
Protein: ENSMUSP00000109460
Gene: ENSMUSG00000022914
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
WD40
|
175 |
214 |
1.3e-7 |
SMART |
|
WD40
|
217 |
256 |
2.26e-7 |
SMART |
|
WD40
|
259 |
302 |
1.83e-7 |
SMART |
|
WD40
|
311 |
352 |
3.82e1 |
SMART |
|
WD40
|
357 |
396 |
4.27e-8 |
SMART |
|
WD40
|
417 |
454 |
8.59e-1 |
SMART |
|
WD40
|
457 |
497 |
1.47e-6 |
SMART |
|
WD40
|
504 |
544 |
9.21e0 |
SMART |
|
low complexity region
|
660 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
868 |
N/A |
INTRINSIC |
|
low complexity region
|
906 |
927 |
N/A |
INTRINSIC |
|
BROMO
|
1156 |
1267 |
1.72e-6 |
SMART |
|
low complexity region
|
1277 |
1292 |
N/A |
INTRINSIC |
|
BROMO
|
1317 |
1422 |
2.65e-30 |
SMART |
|
low complexity region
|
1497 |
1513 |
N/A |
INTRINSIC |
|
low complexity region
|
1543 |
1558 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1574 |
1762 |
1.13e-9 |
PROSPERO |
|
low complexity region
|
1764 |
1775 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1857 |
2050 |
1.13e-9 |
PROSPERO |
|
low complexity region
|
2165 |
2174 |
N/A |
INTRINSIC |
|
low complexity region
|
2177 |
2188 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000118327
Gene: ENSMUSG00000022914
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
353 |
374 |
N/A |
INTRINSIC |
|
Blast:BROMO
|
496 |
582 |
4e-37 |
BLAST |
|
Blast:BROMO
|
603 |
627 |
5e-8 |
BLAST |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000118327
Gene: ENSMUSG00000022914
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
353 |
374 |
N/A |
INTRINSIC |
|
Blast:BROMO
|
496 |
582 |
4e-37 |
BLAST |
|
Blast:BROMO
|
603 |
627 |
5e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148432
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153398
|
| SMART Domains |
Protein: ENSMUSP00000117066
Gene: ENSMUSG00000022914
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
WD40
|
175 |
214 |
1.3e-7 |
SMART |
|
WD40
|
217 |
256 |
2.26e-7 |
SMART |
|
WD40
|
259 |
302 |
1.83e-7 |
SMART |
|
WD40
|
311 |
352 |
3.82e1 |
SMART |
|
WD40
|
357 |
396 |
4.27e-8 |
SMART |
|
WD40
|
417 |
454 |
8.59e-1 |
SMART |
|
WD40
|
457 |
497 |
1.47e-6 |
SMART |
|
WD40
|
504 |
544 |
9.21e0 |
SMART |
|
low complexity region
|
660 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
868 |
N/A |
INTRINSIC |
|
low complexity region
|
906 |
927 |
N/A |
INTRINSIC |
|
BROMO
|
1156 |
1267 |
1.72e-6 |
SMART |
|
low complexity region
|
1277 |
1292 |
N/A |
INTRINSIC |
|
BROMO
|
1317 |
1422 |
2.65e-30 |
SMART |
|
internal_repeat_1
|
1491 |
1957 |
1.45e-251 |
PROSPERO |
|
internal_repeat_1
|
1956 |
2422 |
1.45e-251 |
PROSPERO |
|
low complexity region
|
2630 |
2639 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153398
|
| SMART Domains |
Protein: ENSMUSP00000117066
Gene: ENSMUSG00000022914
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
WD40
|
175 |
214 |
1.3e-7 |
SMART |
|
WD40
|
217 |
256 |
2.26e-7 |
SMART |
|
WD40
|
259 |
302 |
1.83e-7 |
SMART |
|
WD40
|
311 |
352 |
3.82e1 |
SMART |
|
WD40
|
357 |
396 |
4.27e-8 |
SMART |
|
WD40
|
417 |
454 |
8.59e-1 |
SMART |
|
WD40
|
457 |
497 |
1.47e-6 |
SMART |
|
WD40
|
504 |
544 |
9.21e0 |
SMART |
|
low complexity region
|
660 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
868 |
N/A |
INTRINSIC |
|
low complexity region
|
906 |
927 |
N/A |
INTRINSIC |
|
BROMO
|
1156 |
1267 |
1.72e-6 |
SMART |
|
low complexity region
|
1277 |
1292 |
N/A |
INTRINSIC |
|
BROMO
|
1317 |
1422 |
2.65e-30 |
SMART |
|
internal_repeat_1
|
1491 |
1957 |
1.45e-251 |
PROSPERO |
|
internal_repeat_1
|
1956 |
2422 |
1.45e-251 |
PROSPERO |
|
low complexity region
|
2630 |
2639 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
97% (85/88) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous males and females are infertile. Spermiogenesis is impaired; males have low epididymal sperm concentration with low motility and abnormal sperm head morphology. Female oocytes commonly contain vacuoles and have low developmental competence to 2-cell and blastocyst stages. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930584F24Rik |
A |
T |
5: 26,684,776 (GRCm39) |
|
noncoding transcript |
Het |
| Acvr1 |
A |
T |
2: 58,369,901 (GRCm39) |
V36E |
probably damaging |
Het |
| Aldh4a1 |
A |
G |
4: 139,370,758 (GRCm39) |
I414V |
probably benign |
Het |
| Alox5 |
C |
T |
6: 116,431,128 (GRCm39) |
C100Y |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,216,068 (GRCm39) |
D348E |
probably damaging |
Het |
| Arhgap30 |
G |
A |
1: 171,230,839 (GRCm39) |
V199M |
probably damaging |
Het |
| Arl13b |
T |
A |
16: 62,626,999 (GRCm39) |
Q234L |
probably benign |
Het |
| Atxn1 |
C |
A |
13: 45,711,052 (GRCm39) |
E627* |
probably null |
Het |
| Bend3 |
T |
C |
10: 43,386,197 (GRCm39) |
F197L |
probably benign |
Het |
| Brca1 |
A |
T |
11: 101,420,638 (GRCm39) |
V190E |
possibly damaging |
Het |
| Brpf1 |
T |
C |
6: 113,292,096 (GRCm39) |
W381R |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,602,604 (GRCm39) |
I530V |
possibly damaging |
Het |
| C2cd3 |
C |
T |
7: 100,089,397 (GRCm39) |
R1638W |
probably damaging |
Het |
| Capns1 |
T |
A |
7: 29,893,511 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cep126 |
G |
A |
9: 8,100,554 (GRCm39) |
T660I |
possibly damaging |
Het |
| Cep295 |
A |
C |
9: 15,246,080 (GRCm39) |
I744R |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,250,725 (GRCm39) |
E668G |
probably benign |
Het |
| Chek2 |
A |
G |
5: 110,996,553 (GRCm39) |
T172A |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,890,501 (GRCm39) |
|
probably null |
Het |
| Coq3 |
G |
A |
4: 21,900,291 (GRCm39) |
V173I |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,970,098 (GRCm39) |
I343N |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,176,703 (GRCm39) |
D774E |
probably benign |
Het |
| Dnai3 |
T |
C |
3: 145,802,996 (GRCm39) |
D65G |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Esrra |
T |
C |
19: 6,890,197 (GRCm39) |
Y209C |
probably damaging |
Het |
| Gpr149 |
A |
T |
3: 62,502,592 (GRCm39) |
D421E |
probably benign |
Het |
| Gpr15 |
T |
C |
16: 58,538,937 (GRCm39) |
N51D |
probably damaging |
Het |
| Gpr156 |
T |
C |
16: 37,812,558 (GRCm39) |
V298A |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,236,507 (GRCm39) |
G350D |
probably damaging |
Het |
| Ifih1 |
A |
T |
2: 62,440,902 (GRCm39) |
N421K |
probably benign |
Het |
| Ilvbl |
C |
A |
10: 78,412,564 (GRCm39) |
T95K |
probably damaging |
Het |
| Itgb4 |
T |
A |
11: 115,890,625 (GRCm39) |
D1104E |
probably benign |
Het |
| Katnip |
C |
A |
7: 125,415,743 (GRCm39) |
|
probably benign |
Het |
| Lipf |
A |
T |
19: 33,942,180 (GRCm39) |
M37L |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,852,775 (GRCm39) |
N2258K |
probably benign |
Het |
| Moxd1 |
A |
G |
10: 24,099,758 (GRCm39) |
Y86C |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,367,629 (GRCm39) |
|
probably null |
Het |
| Myo16 |
G |
A |
8: 10,610,145 (GRCm39) |
R1162H |
probably damaging |
Het |
| Myo5c |
A |
T |
9: 75,208,092 (GRCm39) |
N1609Y |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,240,098 (GRCm39) |
F155L |
probably damaging |
Het |
| Nek4 |
A |
T |
14: 30,704,290 (GRCm39) |
M602L |
possibly damaging |
Het |
| Nek9 |
A |
G |
12: 85,348,622 (GRCm39) |
S971P |
probably damaging |
Het |
| Nfya |
A |
T |
17: 48,700,570 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 89,221,547 (GRCm39) |
N442I |
probably damaging |
Het |
| Nup42 |
A |
C |
5: 24,383,075 (GRCm39) |
K200N |
probably benign |
Het |
| Or1e26 |
T |
A |
11: 73,480,187 (GRCm39) |
I126L |
possibly damaging |
Het |
| Or4c111 |
G |
A |
2: 88,843,713 (GRCm39) |
R232* |
probably null |
Het |
| Or7g32 |
G |
A |
9: 19,389,423 (GRCm39) |
T38I |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,126,833 (GRCm39) |
I304N |
probably damaging |
Het |
| Pigo |
G |
C |
4: 43,024,779 (GRCm39) |
P107A |
probably damaging |
Het |
| Plce1 |
C |
T |
19: 38,693,783 (GRCm39) |
Q769* |
probably null |
Het |
| Plin2 |
C |
T |
4: 86,575,481 (GRCm39) |
R356H |
probably benign |
Het |
| Ppp1r9a |
G |
T |
6: 5,113,712 (GRCm39) |
E739* |
probably null |
Het |
| Ppp3cc |
G |
T |
14: 70,478,397 (GRCm39) |
N268K |
probably damaging |
Het |
| Prkag3 |
T |
A |
1: 74,779,919 (GRCm39) |
D472V |
probably damaging |
Het |
| Ptch2 |
A |
T |
4: 116,968,046 (GRCm39) |
D846V |
probably damaging |
Het |
| Rhob |
A |
T |
12: 8,549,388 (GRCm39) |
M82K |
probably damaging |
Het |
| Rps6kc1 |
T |
A |
1: 190,531,672 (GRCm39) |
R777W |
possibly damaging |
Het |
| Sap130 |
T |
A |
18: 31,844,380 (GRCm39) |
V850E |
probably damaging |
Het |
| Sema3a |
T |
G |
5: 13,523,407 (GRCm39) |
N125K |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,460,431 (GRCm39) |
D64G |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,384,507 (GRCm39) |
D163V |
possibly damaging |
Het |
| Slc15a1 |
A |
T |
14: 121,728,651 (GRCm39) |
Y31* |
probably null |
Het |
| Smchd1 |
A |
T |
17: 71,685,252 (GRCm39) |
M1392K |
probably benign |
Het |
| Sobp |
T |
A |
10: 43,036,827 (GRCm39) |
N37I |
probably damaging |
Het |
| Spock3 |
G |
T |
8: 63,673,739 (GRCm39) |
C142F |
probably damaging |
Het |
| Stx6 |
A |
C |
1: 155,053,650 (GRCm39) |
S86R |
probably benign |
Het |
| Sult2a4 |
C |
A |
7: 13,643,726 (GRCm39) |
M280I |
probably benign |
Het |
| Synm |
A |
T |
7: 67,386,080 (GRCm39) |
D527E |
probably damaging |
Het |
| Tax1bp1 |
C |
T |
6: 52,710,305 (GRCm39) |
R195W |
probably damaging |
Het |
| Themis2 |
A |
T |
4: 132,519,796 (GRCm39) |
N76K |
possibly damaging |
Het |
| Tmem8b |
A |
G |
4: 43,690,234 (GRCm39) |
T890A |
probably benign |
Het |
| Traf7 |
T |
A |
17: 24,730,785 (GRCm39) |
H366L |
possibly damaging |
Het |
| Trim30c |
A |
T |
7: 104,032,459 (GRCm39) |
V289D |
probably benign |
Het |
| Tsr1 |
T |
A |
11: 74,792,914 (GRCm39) |
D407E |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,235,593 (GRCm39) |
A33E |
probably damaging |
Het |
| Unc13d |
C |
A |
11: 115,964,701 (GRCm39) |
R255L |
possibly damaging |
Het |
| Ush2a |
G |
T |
1: 188,542,534 (GRCm39) |
G3367* |
probably null |
Het |
| Vmn1r229 |
T |
C |
17: 21,034,791 (GRCm39) |
L12P |
probably damaging |
Het |
| Vmn2r27 |
C |
A |
6: 124,177,474 (GRCm39) |
G510V |
probably damaging |
Het |
| Vps4b |
T |
C |
1: 106,707,712 (GRCm39) |
E257G |
probably damaging |
Het |
| Vps72 |
T |
C |
3: 95,026,462 (GRCm39) |
S136P |
probably damaging |
Het |
| Wdr36 |
T |
C |
18: 32,976,938 (GRCm39) |
I181T |
possibly damaging |
Het |
| Wfikkn1 |
C |
T |
17: 26,096,765 (GRCm39) |
A520T |
probably benign |
Het |
|
| Other mutations in Brwd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00690:Brwd1
|
APN |
16 |
95,818,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00974:Brwd1
|
APN |
16 |
95,844,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01014:Brwd1
|
APN |
16 |
95,817,373 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01447:Brwd1
|
APN |
16 |
95,848,579 (GRCm39) |
nonsense |
probably null |
|
|
IGL01459:Brwd1
|
APN |
16 |
95,848,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01631:Brwd1
|
APN |
16 |
95,847,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02184:Brwd1
|
APN |
16 |
95,815,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02264:Brwd1
|
APN |
16 |
95,820,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02679:Brwd1
|
APN |
16 |
95,804,023 (GRCm39) |
missense |
probably benign |
|
|
IGL02833:Brwd1
|
APN |
16 |
95,853,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02960:Brwd1
|
APN |
16 |
95,858,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03053:Brwd1
|
APN |
16 |
95,818,877 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03074:Brwd1
|
APN |
16 |
95,813,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03135:Brwd1
|
APN |
16 |
95,822,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03168:Brwd1
|
APN |
16 |
95,818,877 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03214:Brwd1
|
APN |
16 |
95,839,100 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03328:Brwd1
|
APN |
16 |
95,803,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
bromide
|
UTSW |
16 |
95,866,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Embers
|
UTSW |
16 |
95,818,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Glowing
|
UTSW |
16 |
95,837,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Soporific
|
UTSW |
16 |
95,835,043 (GRCm39) |
nonsense |
probably null |
|
|
G1citation:Brwd1
|
UTSW |
16 |
95,842,474 (GRCm39) |
missense |
probably benign |
0.42 |
|
PIT4243001:Brwd1
|
UTSW |
16 |
95,803,871 (GRCm39) |
nonsense |
probably null |
|
|
R0012:Brwd1
|
UTSW |
16 |
95,860,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0012:Brwd1
|
UTSW |
16 |
95,860,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0030:Brwd1
|
UTSW |
16 |
95,822,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0135:Brwd1
|
UTSW |
16 |
95,848,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0366:Brwd1
|
UTSW |
16 |
95,839,164 (GRCm39) |
nonsense |
probably null |
|
|
R0551:Brwd1
|
UTSW |
16 |
95,837,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0586:Brwd1
|
UTSW |
16 |
95,844,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0865:Brwd1
|
UTSW |
16 |
95,869,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1226:Brwd1
|
UTSW |
16 |
95,832,748 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1329:Brwd1
|
UTSW |
16 |
95,804,434 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1378:Brwd1
|
UTSW |
16 |
95,842,570 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1420:Brwd1
|
UTSW |
16 |
95,837,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1441:Brwd1
|
UTSW |
16 |
95,867,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1624:Brwd1
|
UTSW |
16 |
95,809,344 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1636:Brwd1
|
UTSW |
16 |
95,860,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Brwd1
|
UTSW |
16 |
95,822,437 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1998:Brwd1
|
UTSW |
16 |
95,822,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:Brwd1
|
UTSW |
16 |
95,847,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2898:Brwd1
|
UTSW |
16 |
95,867,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2983:Brwd1
|
UTSW |
16 |
95,867,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3966:Brwd1
|
UTSW |
16 |
95,845,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4086:Brwd1
|
UTSW |
16 |
95,847,572 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4257:Brwd1
|
UTSW |
16 |
95,824,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4290:Brwd1
|
UTSW |
16 |
95,818,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4292:Brwd1
|
UTSW |
16 |
95,818,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4293:Brwd1
|
UTSW |
16 |
95,818,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Brwd1
|
UTSW |
16 |
95,848,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Brwd1
|
UTSW |
16 |
95,804,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5025:Brwd1
|
UTSW |
16 |
95,855,172 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5155:Brwd1
|
UTSW |
16 |
95,803,993 (GRCm39) |
nonsense |
probably null |
|
|
R5229:Brwd1
|
UTSW |
16 |
95,803,409 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5246:Brwd1
|
UTSW |
16 |
95,803,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Brwd1
|
UTSW |
16 |
95,817,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Brwd1
|
UTSW |
16 |
95,835,043 (GRCm39) |
nonsense |
probably null |
|
|
R5782:Brwd1
|
UTSW |
16 |
95,844,243 (GRCm39) |
nonsense |
probably null |
|
|
R5831:Brwd1
|
UTSW |
16 |
95,820,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5836:Brwd1
|
UTSW |
16 |
95,865,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Brwd1
|
UTSW |
16 |
95,859,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5995:Brwd1
|
UTSW |
16 |
95,865,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6143:Brwd1
|
UTSW |
16 |
95,804,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6241:Brwd1
|
UTSW |
16 |
95,815,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Brwd1
|
UTSW |
16 |
95,809,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6362:Brwd1
|
UTSW |
16 |
95,803,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6551:Brwd1
|
UTSW |
16 |
95,795,162 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6736:Brwd1
|
UTSW |
16 |
95,869,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6822:Brwd1
|
UTSW |
16 |
95,842,474 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7080:Brwd1
|
UTSW |
16 |
95,810,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7131:Brwd1
|
UTSW |
16 |
95,867,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7208:Brwd1
|
UTSW |
16 |
95,837,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7322:Brwd1
|
UTSW |
16 |
95,867,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7483:Brwd1
|
UTSW |
16 |
95,857,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7615:Brwd1
|
UTSW |
16 |
95,835,039 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7621:Brwd1
|
UTSW |
16 |
95,866,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7665:Brwd1
|
UTSW |
16 |
95,842,543 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7697:Brwd1
|
UTSW |
16 |
95,847,601 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7740:Brwd1
|
UTSW |
16 |
95,828,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8120:Brwd1
|
UTSW |
16 |
95,820,649 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8187:Brwd1
|
UTSW |
16 |
95,803,934 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8359:Brwd1
|
UTSW |
16 |
95,817,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Brwd1
|
UTSW |
16 |
95,848,630 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8511:Brwd1
|
UTSW |
16 |
95,859,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Brwd1
|
UTSW |
16 |
95,829,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9074:Brwd1
|
UTSW |
16 |
95,824,610 (GRCm39) |
missense |
|
|
|
R9102:Brwd1
|
UTSW |
16 |
95,869,725 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9115:Brwd1
|
UTSW |
16 |
95,848,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9130:Brwd1
|
UTSW |
16 |
95,866,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9200:Brwd1
|
UTSW |
16 |
95,839,154 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9246:Brwd1
|
UTSW |
16 |
95,804,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9407:Brwd1
|
UTSW |
16 |
95,803,693 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9444:Brwd1
|
UTSW |
16 |
95,855,180 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9451:Brwd1
|
UTSW |
16 |
95,845,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9673:Brwd1
|
UTSW |
16 |
95,813,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9751:Brwd1
|
UTSW |
16 |
95,795,015 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9753:Brwd1
|
UTSW |
16 |
95,825,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0017:Brwd1
|
UTSW |
16 |
95,845,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Brwd1
|
UTSW |
16 |
95,813,123 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTATCAACGCTGAGCTGTGACTGAC -3'
(R):5'- AAGTGCTGCCTTCATCCGCTAACC -3'
Sequencing Primer
(F):5'- TGGCTTAAAATGACCCTGGAC -3'
(R):5'- GTATAAGGGGGCTATAATCATCCAC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation