Incidental Mutation 'R5748:Wdr6'
| ID |
445873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr6
|
| Ensembl Gene |
ENSMUSG00000066357 |
| Gene Name |
WD repeat domain 6 |
| Synonyms |
|
| MMRRC Submission |
043355-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.286)
|
| Stock # |
R5748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108449510-108455862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108452981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 301
(I301V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006853]
[ENSMUST00000019183]
[ENSMUST00000068700]
[ENSMUST00000195249]
[ENSMUST00000193427]
|
| AlphaFold |
Q99ME2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006853
|
| SMART Domains |
Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
|
P4Hc
|
143 |
460 |
1.26e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019183
|
| SMART Domains |
Protein: ENSMUSP00000019183
Gene: ENSMUSG00000019039
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
288 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
397 |
N/A |
INTRINSIC |
|
DALR_1
|
399 |
538 |
2.09e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068700
AA Change: I301V
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
AA Change: I301V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
109 |
142 |
3e-6 |
BLAST |
|
WD40
|
198 |
237 |
1.42e-4 |
SMART |
|
WD40
|
247 |
284 |
7.28e-2 |
SMART |
|
WD40
|
286 |
326 |
1.72e-3 |
SMART |
|
Blast:WD40
|
336 |
375 |
3e-13 |
BLAST |
|
WD40
|
479 |
519 |
2.96e1 |
SMART |
|
low complexity region
|
537 |
552 |
N/A |
INTRINSIC |
|
WD40
|
559 |
598 |
1.77e2 |
SMART |
|
Blast:WD40
|
600 |
641 |
7e-20 |
BLAST |
|
Blast:WD40
|
764 |
815 |
2e-22 |
BLAST |
|
Blast:WD40
|
855 |
896 |
2e-11 |
BLAST |
|
WD40
|
900 |
949 |
1.48e1 |
SMART |
|
WD40
|
973 |
1015 |
5.52e-2 |
SMART |
|
WD40
|
1035 |
1076 |
3.98e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191897
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194900
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195249
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193427
|
| SMART Domains |
Protein: ENSMUSP00000141748
Gene: ENSMUSG00000019039
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
DALR_1
|
68 |
171 |
1.3e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.1244 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (58/59) |
| 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. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,739,447 (GRCm39) |
Q285R |
probably damaging |
Het |
| Acy1 |
T |
A |
9: 106,313,926 (GRCm39) |
N78I |
probably damaging |
Het |
| Anln |
T |
C |
9: 22,249,230 (GRCm39) |
K166E |
probably damaging |
Het |
| C1qtnf4 |
A |
G |
2: 90,719,877 (GRCm39) |
D50G |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 45,692,818 (GRCm39) |
T100A |
probably damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,639,406 (GRCm39) |
R143C |
probably damaging |
Het |
| Dhx16 |
T |
C |
17: 36,194,206 (GRCm39) |
L439P |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,425,898 (GRCm39) |
V257A |
probably benign |
Het |
| Ebpl |
A |
T |
14: 61,597,793 (GRCm39) |
L16Q |
probably null |
Het |
| Eml5 |
T |
A |
12: 98,791,814 (GRCm39) |
Y1234F |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,200,702 (GRCm39) |
D793G |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,751,778 (GRCm39) |
Y324H |
probably benign |
Het |
| Hcn1 |
A |
T |
13: 118,112,591 (GRCm39) |
S852C |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,307,823 (GRCm39) |
T83A |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,016,677 (GRCm39) |
L155P |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,511,759 (GRCm39) |
D107V |
probably damaging |
Het |
| Mcm9 |
A |
T |
10: 53,501,825 (GRCm39) |
H253Q |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 9,982,032 (GRCm39) |
Y30C |
probably damaging |
Het |
| Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,731,510 (GRCm39) |
R62H |
probably damaging |
Het |
| Mrgpra2b |
A |
G |
7: 47,152,280 (GRCm39) |
|
probably benign |
Het |
| Nacad |
T |
A |
11: 6,548,370 (GRCm39) |
K1426* |
probably null |
Het |
| Ndufb6 |
A |
G |
4: 40,279,234 (GRCm39) |
L35S |
probably damaging |
Het |
| Niban2 |
A |
T |
2: 32,809,581 (GRCm39) |
K260M |
probably damaging |
Het |
| Nkapl |
A |
G |
13: 21,651,779 (GRCm39) |
I278T |
probably benign |
Het |
| Nrbp2 |
T |
C |
15: 75,961,332 (GRCm39) |
E263G |
probably damaging |
Het |
| Nup85 |
T |
A |
11: 115,471,338 (GRCm39) |
L110Q |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,293 (GRCm39) |
N141S |
possibly damaging |
Het |
| Or1e35 |
A |
G |
11: 73,797,721 (GRCm39) |
I199T |
probably damaging |
Het |
| Or2t6 |
T |
C |
14: 14,175,314 (GRCm38) |
Y256C |
probably damaging |
Het |
| Or4a78 |
A |
T |
2: 89,498,146 (GRCm39) |
M28K |
possibly damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,379 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,418,815 (GRCm39) |
I221F |
probably damaging |
Het |
| Polr2m |
C |
T |
9: 71,390,918 (GRCm39) |
D95N |
probably benign |
Het |
| Popdc2 |
A |
T |
16: 38,194,665 (GRCm39) |
D362V |
probably damaging |
Het |
| Pot1a |
A |
T |
6: 25,758,855 (GRCm39) |
I308N |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rundc3a |
G |
A |
11: 102,290,225 (GRCm39) |
E189K |
possibly damaging |
Het |
| Scaf1 |
A |
C |
7: 44,662,230 (GRCm39) |
|
probably null |
Het |
| Scaper |
T |
C |
9: 55,766,360 (GRCm39) |
|
probably null |
Het |
| Sh3glb1 |
C |
T |
3: 144,418,410 (GRCm39) |
C51Y |
probably damaging |
Het |
| Slc10a5 |
T |
C |
3: 10,400,391 (GRCm39) |
T90A |
probably benign |
Het |
| Slc17a3 |
T |
A |
13: 24,040,449 (GRCm39) |
S336T |
probably damaging |
Het |
| Slc41a2 |
C |
A |
10: 83,133,023 (GRCm39) |
C341F |
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,068,127 (GRCm39) |
*67W |
probably null |
Het |
| Stap2 |
C |
T |
17: 56,307,475 (GRCm39) |
|
probably null |
Het |
| Stt3a |
A |
T |
9: 36,663,696 (GRCm39) |
M182K |
probably benign |
Het |
| Tcfl5 |
G |
A |
2: 180,284,050 (GRCm39) |
|
silent |
Het |
| Tmx3 |
T |
C |
18: 90,555,225 (GRCm39) |
V314A |
probably benign |
Het |
| Upf1 |
A |
G |
8: 70,791,167 (GRCm39) |
L525P |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,107,025 (GRCm39) |
|
probably null |
Het |
| Zfp273 |
T |
C |
13: 67,973,450 (GRCm39) |
Y160H |
probably damaging |
Het |
|
| Other mutations in Wdr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Wdr6
|
APN |
9 |
108,452,096 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01757:Wdr6
|
APN |
9 |
108,453,427 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02096:Wdr6
|
APN |
9 |
108,453,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02577:Wdr6
|
APN |
9 |
108,453,140 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02625:Wdr6
|
APN |
9 |
108,452,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Wdr6
|
APN |
9 |
108,455,743 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03250:Wdr6
|
APN |
9 |
108,450,396 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4802001:Wdr6
|
UTSW |
9 |
108,451,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Wdr6
|
UTSW |
9 |
108,450,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Wdr6
|
UTSW |
9 |
108,452,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0378:Wdr6
|
UTSW |
9 |
108,453,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Wdr6
|
UTSW |
9 |
108,450,300 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1620:Wdr6
|
UTSW |
9 |
108,451,854 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1753:Wdr6
|
UTSW |
9 |
108,452,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1844:Wdr6
|
UTSW |
9 |
108,453,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Wdr6
|
UTSW |
9 |
108,450,378 (GRCm39) |
splice site |
probably null |
|
|
R1987:Wdr6
|
UTSW |
9 |
108,453,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Wdr6
|
UTSW |
9 |
108,452,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Wdr6
|
UTSW |
9 |
108,451,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3900:Wdr6
|
UTSW |
9 |
108,452,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4021:Wdr6
|
UTSW |
9 |
108,452,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Wdr6
|
UTSW |
9 |
108,450,187 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5073:Wdr6
|
UTSW |
9 |
108,451,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Wdr6
|
UTSW |
9 |
108,450,994 (GRCm39) |
frame shift |
probably null |
|
|
R6039:Wdr6
|
UTSW |
9 |
108,450,994 (GRCm39) |
frame shift |
probably null |
|
|
R6254:Wdr6
|
UTSW |
9 |
108,452,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6724:Wdr6
|
UTSW |
9 |
108,452,093 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7134:Wdr6
|
UTSW |
9 |
108,450,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7248:Wdr6
|
UTSW |
9 |
108,453,238 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7296:Wdr6
|
UTSW |
9 |
108,451,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7388:Wdr6
|
UTSW |
9 |
108,451,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7443:Wdr6
|
UTSW |
9 |
108,451,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7467:Wdr6
|
UTSW |
9 |
108,450,201 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7672:Wdr6
|
UTSW |
9 |
108,450,947 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7699:Wdr6
|
UTSW |
9 |
108,453,560 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7700:Wdr6
|
UTSW |
9 |
108,453,560 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8559:Wdr6
|
UTSW |
9 |
108,452,593 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9076:Wdr6
|
UTSW |
9 |
108,451,627 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9273:Wdr6
|
UTSW |
9 |
108,450,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9486:Wdr6
|
UTSW |
9 |
108,453,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9488:Wdr6
|
UTSW |
9 |
108,453,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9679:Wdr6
|
UTSW |
9 |
108,450,358 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGTCACTGCCAGGACTC -3'
(R):5'- CTGCTTCAGAAGACCGAAGTGTTC -3'
Sequencing Primer
(F):5'- AGGACTCGCCAGGAACCAG -3'
(R):5'- AAGTGTTCGTCTCTGGAAGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation