Incidental Mutation 'R7388:Wdr6'
ID |
573262 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr6
|
Ensembl Gene |
ENSMUSG00000066357 |
Gene Name |
WD repeat domain 6 |
Synonyms |
|
MMRRC Submission |
045470-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.341)
|
Stock # |
R7388 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
108449510-108455862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108451971 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 637
(F637L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006853]
[ENSMUST00000019183]
[ENSMUST00000068700]
[ENSMUST00000193427]
[ENSMUST00000195249]
|
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 |
probably damaging
Transcript: ENSMUST00000068700
AA Change: F637L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000070927 Gene: ENSMUSG00000066357 AA Change: F637L
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 |
probably benign
Transcript: ENSMUST00000192518
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195249
|
Meta Mutation Damage Score |
0.1713 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (63/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
T |
C |
18: 67,556,023 (GRCm39) |
E436G |
probably damaging |
Het |
Agbl5 |
T |
A |
5: 31,060,583 (GRCm39) |
L759* |
probably null |
Het |
Ankrd13b |
T |
C |
11: 77,363,583 (GRCm39) |
D460G |
probably benign |
Het |
Apol10a |
A |
G |
15: 77,373,225 (GRCm39) |
D287G |
possibly damaging |
Het |
Arhgap44 |
A |
T |
11: 64,915,094 (GRCm39) |
Y391* |
probably null |
Het |
Asz1 |
G |
T |
6: 18,074,900 (GRCm39) |
S271R |
probably benign |
Het |
AW554918 |
A |
G |
18: 25,473,170 (GRCm39) |
N325D |
probably benign |
Het |
Brinp2 |
A |
T |
1: 158,082,579 (GRCm39) |
L247Q |
probably damaging |
Het |
Casz1 |
A |
G |
4: 149,036,850 (GRCm39) |
D1704G |
unknown |
Het |
Cdk5rap1 |
G |
A |
2: 154,202,595 (GRCm39) |
R212W |
probably damaging |
Het |
Cdkl2 |
T |
A |
5: 92,167,318 (GRCm39) |
T444S |
probably benign |
Het |
Cers2 |
T |
G |
3: 95,228,656 (GRCm39) |
F160V |
probably benign |
Het |
Cfap276 |
T |
C |
3: 108,450,815 (GRCm39) |
F86L |
possibly damaging |
Het |
Cga |
T |
A |
4: 34,907,076 (GRCm39) |
M99K |
probably benign |
Het |
Cspp1 |
C |
T |
1: 10,135,572 (GRCm39) |
R138* |
probably null |
Het |
Dao |
T |
G |
5: 114,153,273 (GRCm39) |
*133E |
probably null |
Het |
Ddx1 |
A |
T |
12: 13,275,456 (GRCm39) |
C544S |
probably null |
Het |
Dgkq |
A |
T |
5: 108,806,112 (GRCm39) |
V98E |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,169,300 (GRCm39) |
T434S |
possibly damaging |
Het |
Dntt |
A |
G |
19: 41,027,418 (GRCm39) |
N162D |
probably benign |
Het |
Dpysl5 |
T |
C |
5: 30,902,805 (GRCm39) |
V79A |
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,611,871 (GRCm39) |
L571P |
probably damaging |
Het |
Ep300 |
T |
C |
15: 81,532,567 (GRCm39) |
C1602R |
unknown |
Het |
Flrt3 |
C |
T |
2: 140,503,672 (GRCm39) |
|
probably null |
Het |
Gk2 |
A |
G |
5: 97,604,757 (GRCm39) |
V27A |
probably damaging |
Het |
Gnpat |
T |
G |
8: 125,614,553 (GRCm39) |
M663R |
probably benign |
Het |
Hc |
A |
T |
2: 34,874,859 (GRCm39) |
|
probably null |
Het |
Il12rb1 |
A |
G |
8: 71,263,271 (GRCm39) |
Y67C |
probably damaging |
Het |
Ints15 |
G |
A |
5: 143,297,600 (GRCm39) |
A149V |
probably benign |
Het |
Kmt2b |
C |
T |
7: 30,281,385 (GRCm39) |
D1229N |
probably damaging |
Het |
Lamc1 |
T |
C |
1: 153,124,822 (GRCm39) |
T650A |
probably damaging |
Het |
Lrp1 |
G |
A |
10: 127,419,766 (GRCm39) |
R948* |
probably null |
Het |
Map3k21 |
T |
C |
8: 126,654,336 (GRCm39) |
I385T |
probably damaging |
Het |
Mmrn1 |
T |
A |
6: 60,953,236 (GRCm39) |
S506T |
probably benign |
Het |
Nlrp1a |
A |
G |
11: 71,014,023 (GRCm39) |
F409S |
probably damaging |
Het |
Nlrp3 |
T |
A |
11: 59,455,892 (GRCm39) |
I896N |
probably benign |
Het |
Noxred1 |
C |
A |
12: 87,273,799 (GRCm39) |
V81L |
probably damaging |
Het |
Nrcam |
A |
T |
12: 44,645,272 (GRCm39) |
I1225F |
probably damaging |
Het |
Or2z2 |
C |
T |
11: 58,346,481 (GRCm39) |
C98Y |
probably damaging |
Het |
Otos |
T |
A |
1: 92,572,241 (GRCm39) |
|
probably null |
Het |
Pcdh20 |
A |
G |
14: 88,706,103 (GRCm39) |
I399T |
probably benign |
Het |
Pkhd1 |
C |
T |
1: 20,309,528 (GRCm39) |
V2807I |
not run |
Het |
Prrx2 |
A |
G |
2: 30,770,902 (GRCm39) |
E235G |
probably damaging |
Het |
Rab13 |
T |
C |
3: 90,128,327 (GRCm39) |
I41T |
probably damaging |
Het |
Rai1 |
A |
C |
11: 60,080,201 (GRCm39) |
T1422P |
possibly damaging |
Het |
Rcn1 |
C |
T |
2: 105,222,336 (GRCm39) |
V217M |
probably damaging |
Het |
Scn2a |
T |
A |
2: 65,518,998 (GRCm39) |
V408E |
probably damaging |
Het |
Sec16a |
C |
T |
2: 26,318,376 (GRCm39) |
A121T |
|
Het |
Slc35d1 |
A |
G |
4: 103,046,982 (GRCm39) |
|
probably null |
Het |
Slc39a6 |
A |
T |
18: 24,717,106 (GRCm39) |
V642E |
probably damaging |
Het |
Slc6a19 |
G |
A |
13: 73,841,203 (GRCm39) |
A69V |
probably benign |
Het |
Spink6 |
A |
T |
18: 44,215,386 (GRCm39) |
T79S |
probably damaging |
Het |
Spire1 |
T |
C |
18: 67,652,950 (GRCm39) |
D170G |
probably damaging |
Het |
Sugp1 |
T |
C |
8: 70,505,269 (GRCm39) |
S79P |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,934,167 (GRCm39) |
Y201H |
probably damaging |
Het |
Tbc1d10a |
T |
C |
11: 4,155,858 (GRCm39) |
|
probably null |
Het |
Tmem14a |
C |
T |
1: 21,299,735 (GRCm39) |
Q122* |
probably null |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Trmt61a |
A |
G |
12: 111,645,321 (GRCm39) |
I86V |
possibly damaging |
Het |
Tubgcp4 |
G |
A |
2: 121,020,447 (GRCm39) |
|
probably null |
Het |
Vmn1r79 |
T |
A |
7: 11,910,668 (GRCm39) |
Y183* |
probably null |
Het |
Vmn2r11 |
A |
T |
5: 109,202,742 (GRCm39) |
W112R |
probably benign |
Het |
Vpreb1a |
T |
C |
16: 16,686,516 (GRCm39) |
K125E |
probably benign |
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 |
R5748:Wdr6
|
UTSW |
9 |
108,452,981 (GRCm39) |
missense |
possibly damaging |
0.75 |
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 |
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'- GAATCACATTGGGCCGGATG -3'
(R):5'- ACACTCCATTCTCTGCATGG -3'
Sequencing Primer
(F):5'- GATGCAGCCACCTAGAGC -3'
(R):5'- TCCATTCTCTGCATGGGAAACAGG -3'
|
Posted On |
2019-09-13 |