Incidental Mutation 'R5405:Wdr1'
| ID |
428663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr1
|
| Ensembl Gene |
ENSMUSG00000005103 |
| Gene Name |
WD repeat domain 1 |
| Synonyms |
rede, D5Wsu185e, Aip1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5405 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
38684149-38720265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38692543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 121
(T121A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005234]
[ENSMUST00000201260]
|
| AlphaFold |
O88342 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005234
AA Change: T394A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000005234
Gene: ENSMUSG00000005103
AA Change: T394A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
47 |
86 |
1.7e-2 |
SMART |
|
WD40
|
91 |
134 |
5.52e0 |
SMART |
|
WD40
|
135 |
175 |
3.69e-3 |
SMART |
|
WD40
|
178 |
217 |
4.4e-10 |
SMART |
|
WD40
|
220 |
262 |
1.74e-8 |
SMART |
|
WD40
|
309 |
350 |
7.05e-9 |
SMART |
|
WD40
|
354 |
392 |
6.9e-1 |
SMART |
|
WD40
|
434 |
473 |
1.36e-1 |
SMART |
|
WD40
|
478 |
517 |
7.8e-2 |
SMART |
|
WD40
|
521 |
560 |
1.83e-7 |
SMART |
|
WD40
|
564 |
603 |
3.71e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201150
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201260
AA Change: T121A
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000143937
Gene: ENSMUSG00000005103
AA Change: T121A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
36 |
77 |
4.6e-11 |
SMART |
|
WD40
|
81 |
119 |
4.5e-3 |
SMART |
|
WD40
|
161 |
200 |
8.9e-4 |
SMART |
|
WD40
|
205 |
244 |
4.9e-4 |
SMART |
|
WD40
|
248 |
287 |
1.2e-9 |
SMART |
|
WD40
|
291 |
330 |
2.4e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202496
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Severe loss of function at this locus causes embryonic lethality. Mice homozygous for a hypomorphic ENU-induced allele exhibit thrombocytopenia due to impaired megakaryocyte maturation and platelet shedding, and develop autoinflammatory disease associated with defects in neutrophil function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
T |
6: 86,078,179 (GRCm39) |
T298S |
probably benign |
Het |
| Atad2b |
G |
A |
12: 4,990,098 (GRCm39) |
R141Q |
possibly damaging |
Het |
| B3glct |
A |
G |
5: 149,632,818 (GRCm39) |
Q56R |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,894,894 (GRCm39) |
Y358C |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,966,085 (GRCm39) |
E1136G |
possibly damaging |
Het |
| Ceacam1 |
A |
T |
7: 25,163,290 (GRCm39) |
N314K |
probably benign |
Het |
| Ces1g |
A |
T |
8: 94,032,496 (GRCm39) |
I488N |
probably benign |
Het |
| Chd6 |
C |
T |
2: 160,807,310 (GRCm39) |
R1968K |
probably benign |
Het |
| Cyp27b1 |
C |
T |
10: 126,886,255 (GRCm39) |
T312I |
possibly damaging |
Het |
| Cyp39a1 |
C |
T |
17: 43,987,831 (GRCm39) |
A99V |
probably damaging |
Het |
| Dipk1a |
C |
T |
5: 108,057,827 (GRCm39) |
V199I |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,554,380 (GRCm39) |
S890P |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,612,018 (GRCm39) |
D620V |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,375,102 (GRCm39) |
C588* |
probably null |
Het |
| Erc1 |
A |
T |
6: 119,801,905 (GRCm39) |
S37R |
probably damaging |
Het |
| Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Gm14443 |
T |
C |
2: 175,013,644 (GRCm39) |
I43V |
possibly damaging |
Het |
| Ins2 |
C |
T |
7: 142,233,134 (GRCm39) |
R46H |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,769,523 (GRCm39) |
I413V |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,745,849 (GRCm39) |
D660G |
probably damaging |
Het |
| Mpp3 |
T |
C |
11: 101,901,047 (GRCm39) |
Q318R |
probably benign |
Het |
| Mpzl2 |
T |
C |
9: 44,958,503 (GRCm39) |
S80P |
probably damaging |
Het |
| Mrpl2 |
T |
C |
17: 46,960,036 (GRCm39) |
|
probably null |
Het |
| Mrpl48 |
T |
C |
7: 100,209,000 (GRCm39) |
Y108C |
probably damaging |
Het |
| Ndufaf7 |
C |
A |
17: 79,246,044 (GRCm39) |
F92L |
probably damaging |
Het |
| Or14c43 |
T |
C |
7: 86,115,383 (GRCm39) |
Y255H |
probably damaging |
Het |
| Or6c8 |
T |
A |
10: 128,915,265 (GRCm39) |
D189V |
probably damaging |
Het |
| Rec114 |
T |
C |
9: 58,567,624 (GRCm39) |
S121G |
probably benign |
Het |
| Rnase10 |
A |
T |
14: 51,247,317 (GRCm39) |
I195F |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,133,087 (GRCm39) |
E1754G |
probably damaging |
Het |
| Sec31a |
G |
T |
5: 100,531,657 (GRCm39) |
C238* |
probably null |
Het |
| Slc12a6 |
T |
C |
2: 112,169,724 (GRCm39) |
V337A |
probably damaging |
Het |
| Slc25a37 |
A |
G |
14: 69,482,344 (GRCm39) |
V319A |
possibly damaging |
Het |
| Slc26a10 |
T |
C |
10: 127,010,864 (GRCm39) |
Y456C |
probably benign |
Het |
| Slc27a3 |
G |
A |
3: 90,294,382 (GRCm39) |
T463I |
probably benign |
Het |
| Slc66a3 |
A |
G |
12: 17,043,315 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,524,149 (GRCm39) |
D781E |
probably benign |
Het |
| Tle1 |
T |
C |
4: 72,057,208 (GRCm39) |
|
probably benign |
Het |
| Tmem229b-ps |
T |
C |
10: 53,351,325 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r71 |
A |
G |
7: 85,268,622 (GRCm39) |
D275G |
probably benign |
Het |
| Zdhhc19 |
C |
T |
16: 32,325,869 (GRCm39) |
R240C |
possibly damaging |
Het |
|
| Other mutations in Wdr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00939:Wdr1
|
APN |
5 |
38,692,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01071:Wdr1
|
APN |
5 |
38,687,410 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01293:Wdr1
|
APN |
5 |
38,686,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01347:Wdr1
|
APN |
5 |
38,703,058 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01532:Wdr1
|
APN |
5 |
38,692,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02409:Wdr1
|
APN |
5 |
38,688,453 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02415:Wdr1
|
APN |
5 |
38,688,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02543:Wdr1
|
APN |
5 |
38,703,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Wdr1
|
APN |
5 |
38,698,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03093:Wdr1
|
APN |
5 |
38,718,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03183:Wdr1
|
APN |
5 |
38,690,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0724:Wdr1
|
UTSW |
5 |
38,698,205 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1509:Wdr1
|
UTSW |
5 |
38,697,905 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1589:Wdr1
|
UTSW |
5 |
38,687,315 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3039:Wdr1
|
UTSW |
5 |
38,687,428 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3767:Wdr1
|
UTSW |
5 |
38,697,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4833:Wdr1
|
UTSW |
5 |
38,704,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Wdr1
|
UTSW |
5 |
38,686,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5476:Wdr1
|
UTSW |
5 |
38,686,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Wdr1
|
UTSW |
5 |
38,686,879 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5852:Wdr1
|
UTSW |
5 |
38,694,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5876:Wdr1
|
UTSW |
5 |
38,687,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6170:Wdr1
|
UTSW |
5 |
38,687,014 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6367:Wdr1
|
UTSW |
5 |
38,703,189 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6524:Wdr1
|
UTSW |
5 |
38,687,406 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6643:Wdr1
|
UTSW |
5 |
38,697,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Wdr1
|
UTSW |
5 |
38,687,374 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7305:Wdr1
|
UTSW |
5 |
38,697,435 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8364:Wdr1
|
UTSW |
5 |
38,685,192 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8380:Wdr1
|
UTSW |
5 |
38,697,864 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9151:Wdr1
|
UTSW |
5 |
38,687,468 (GRCm39) |
splice site |
probably benign |
|
|
R9300:Wdr1
|
UTSW |
5 |
38,685,255 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9347:Wdr1
|
UTSW |
5 |
38,697,355 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9679:Wdr1
|
UTSW |
5 |
38,685,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCAGGTCCTGTTGCTCAAC -3'
(R):5'- TATCTTCAGCCTGCATGAAGGG -3'
Sequencing Primer
(F):5'- CCCGCTGGGCTTAGTATCTG -3'
(R):5'- CCACCATCCTGACGTCTGG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation