Incidental Mutation 'R1077:Wdr33'
| ID |
85707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr33
|
| Ensembl Gene |
ENSMUSG00000024400 |
| Gene Name |
WD repeat domain 33 |
| Synonyms |
8430413N20Rik, 2310011G05Rik, 2810021O11Rik, 1110001N06Rik, WDC146 |
| MMRRC Submission |
039163-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R1077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
31937143-32040450 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31968514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 235
(H235R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025264
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025264]
[ENSMUST00000082319]
|
| AlphaFold |
Q8K4P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025264
AA Change: H235R
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
AA Change: H235R
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
107 |
147 |
2.15e-1 |
SMART |
|
WD40
|
150 |
189 |
5.77e-5 |
SMART |
|
WD40
|
191 |
230 |
1.89e-9 |
SMART |
|
WD40
|
233 |
274 |
2.59e-7 |
SMART |
|
WD40
|
277 |
316 |
2.73e-6 |
SMART |
|
WD40
|
320 |
360 |
1.71e-7 |
SMART |
|
WD40
|
364 |
403 |
1.52e-4 |
SMART |
|
low complexity region
|
481 |
499 |
N/A |
INTRINSIC |
|
coiled coil region
|
531 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
573 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
668 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
761 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
778 |
803 |
3.47e-9 |
PROSPERO |
|
low complexity region
|
806 |
818 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
821 |
845 |
3.47e-9 |
PROSPERO |
|
low complexity region
|
848 |
881 |
N/A |
INTRINSIC |
|
low complexity region
|
920 |
935 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
951 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1049 |
N/A |
INTRINSIC |
|
low complexity region
|
1057 |
1100 |
N/A |
INTRINSIC |
|
low complexity region
|
1137 |
1154 |
N/A |
INTRINSIC |
|
low complexity region
|
1190 |
1207 |
N/A |
INTRINSIC |
|
low complexity region
|
1251 |
1262 |
N/A |
INTRINSIC |
|
low complexity region
|
1287 |
1330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082319
AA Change: H235R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000080936
Gene: ENSMUSG00000024400
AA Change: H235R
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
107 |
147 |
2.15e-1 |
SMART |
|
WD40
|
150 |
189 |
5.77e-5 |
SMART |
|
WD40
|
191 |
230 |
1.89e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.0784 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
| Validation Efficiency |
100% (40/40) |
| 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), 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 gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
T |
C |
9: 114,130,770 (GRCm39) |
|
noncoding transcript |
Het |
| Apob |
A |
G |
12: 8,056,017 (GRCm39) |
K1500E |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,706,333 (GRCm39) |
Y225* |
probably null |
Het |
| Cdc25c |
A |
T |
18: 34,882,026 (GRCm39) |
|
probably benign |
Het |
| Ceacam15 |
T |
C |
7: 16,406,000 (GRCm39) |
N184D |
probably benign |
Het |
| Cntln |
T |
C |
4: 84,914,716 (GRCm39) |
S508P |
probably damaging |
Het |
| Defa41 |
T |
A |
8: 21,692,449 (GRCm39) |
F90Y |
probably benign |
Het |
| Dhx34 |
A |
G |
7: 15,952,293 (GRCm39) |
S111P |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,203,248 (GRCm39) |
E759G |
probably damaging |
Het |
| Fis1 |
G |
A |
5: 136,994,000 (GRCm39) |
A28T |
probably damaging |
Het |
| Fsd1 |
T |
C |
17: 56,297,542 (GRCm39) |
|
probably null |
Het |
| Grk6 |
T |
C |
13: 55,602,340 (GRCm39) |
|
probably null |
Het |
| Il23r |
A |
T |
6: 67,450,794 (GRCm39) |
H228Q |
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,643,164 (GRCm39) |
V368I |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,116,891 (GRCm39) |
E728G |
probably damaging |
Het |
| Krt33a |
T |
A |
11: 99,906,763 (GRCm39) |
M71L |
probably benign |
Het |
| Lrrc7 |
T |
G |
3: 157,866,780 (GRCm39) |
D987A |
probably damaging |
Het |
| Naalad2 |
C |
T |
9: 18,258,802 (GRCm39) |
R491Q |
probably damaging |
Het |
| Nedd4l |
A |
T |
18: 65,300,570 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,321,534 (GRCm39) |
L167S |
probably damaging |
Het |
| Prkci |
A |
G |
3: 31,104,341 (GRCm39) |
D568G |
probably damaging |
Het |
| Psg18 |
G |
A |
7: 18,085,000 (GRCm39) |
T32I |
possibly damaging |
Het |
| Ric8b |
T |
A |
10: 84,806,581 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,376,824 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,082,373 (GRCm39) |
V1433A |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,966,379 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sfta2 |
T |
C |
17: 35,961,019 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
T |
A |
13: 24,062,433 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,937,626 (GRCm39) |
C314Y |
probably benign |
Het |
| Smpd4 |
T |
C |
16: 17,441,833 (GRCm39) |
V35A |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,925,786 (GRCm39) |
D1182G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,088,809 (GRCm39) |
I5056V |
possibly damaging |
Het |
| Tex14 |
T |
C |
11: 87,410,571 (GRCm39) |
|
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,354,777 (GRCm39) |
T229A |
probably benign |
Het |
| Tfap2b |
T |
A |
1: 19,304,373 (GRCm39) |
C394* |
probably null |
Het |
| Ttk |
T |
A |
9: 83,726,202 (GRCm39) |
|
probably benign |
Het |
| Vmn2r26 |
G |
A |
6: 124,030,872 (GRCm39) |
V536I |
probably benign |
Het |
| Wac |
A |
G |
18: 7,921,916 (GRCm39) |
T553A |
probably damaging |
Het |
| Wdcp |
T |
A |
12: 4,900,685 (GRCm39) |
H180Q |
probably damaging |
Het |
|
| Other mutations in Wdr33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00737:Wdr33
|
APN |
18 |
32,011,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01099:Wdr33
|
APN |
18 |
32,039,842 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01628:Wdr33
|
APN |
18 |
32,021,363 (GRCm39) |
missense |
unknown |
|
|
IGL03296:Wdr33
|
APN |
18 |
31,960,444 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0103:Wdr33
|
UTSW |
18 |
31,966,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0279:Wdr33
|
UTSW |
18 |
32,021,377 (GRCm39) |
missense |
unknown |
|
|
R0563:Wdr33
|
UTSW |
18 |
32,019,792 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0730:Wdr33
|
UTSW |
18 |
31,968,429 (GRCm39) |
splice site |
probably benign |
|
|
R1377:Wdr33
|
UTSW |
18 |
32,021,694 (GRCm39) |
missense |
unknown |
|
|
R1712:Wdr33
|
UTSW |
18 |
32,029,684 (GRCm39) |
missense |
unknown |
|
|
R1855:Wdr33
|
UTSW |
18 |
32,039,909 (GRCm39) |
unclassified |
probably benign |
|
|
R2013:Wdr33
|
UTSW |
18 |
32,022,029 (GRCm39) |
missense |
unknown |
|
|
R2014:Wdr33
|
UTSW |
18 |
31,966,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4497:Wdr33
|
UTSW |
18 |
32,026,132 (GRCm39) |
missense |
unknown |
|
|
R4727:Wdr33
|
UTSW |
18 |
32,021,500 (GRCm39) |
missense |
unknown |
|
|
R4739:Wdr33
|
UTSW |
18 |
32,019,139 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4777:Wdr33
|
UTSW |
18 |
32,014,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4907:Wdr33
|
UTSW |
18 |
32,040,046 (GRCm39) |
makesense |
probably null |
|
|
R5811:Wdr33
|
UTSW |
18 |
32,035,673 (GRCm39) |
missense |
unknown |
|
|
R6053:Wdr33
|
UTSW |
18 |
32,011,116 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6454:Wdr33
|
UTSW |
18 |
31,963,028 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7112:Wdr33
|
UTSW |
18 |
32,026,056 (GRCm39) |
missense |
unknown |
|
|
R7369:Wdr33
|
UTSW |
18 |
32,019,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7519:Wdr33
|
UTSW |
18 |
32,029,823 (GRCm39) |
missense |
unknown |
|
|
R8278:Wdr33
|
UTSW |
18 |
31,960,405 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8558:Wdr33
|
UTSW |
18 |
31,962,947 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8952:Wdr33
|
UTSW |
18 |
31,960,393 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8994:Wdr33
|
UTSW |
18 |
31,960,459 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9586:Wdr33
|
UTSW |
18 |
31,966,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9775:Wdr33
|
UTSW |
18 |
32,037,406 (GRCm39) |
missense |
unknown |
|
|
RF014:Wdr33
|
UTSW |
18 |
32,014,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCACTGTTAAGGCAACTCCCCG -3'
(R):5'- AGGCTGCCATGACTATGTGAGCTG -3'
Sequencing Primer
(F):5'- GCAGCATTAGGACTAGTAATGTACC -3'
(R):5'- GTATTTTCCTAAAGGGCACAGG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation