Incidental Mutation 'R5560:Wdr60'
| ID |
436555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr60
|
| Ensembl Gene |
ENSMUSG00000042050 |
| Gene Name |
WD repeat domain 60 |
| Synonyms |
D430033N04Rik |
| MMRRC Submission |
043117-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116206262-116263022 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116218113 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 769
(S769G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
| AlphaFold |
Q8C761 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039349
AA Change: S769G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: S769G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
84 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
242 |
N/A |
INTRINSIC |
|
coiled coil region
|
280 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
453 |
N/A |
INTRINSIC |
|
WD40
|
629 |
668 |
2.77e-1 |
SMART |
|
Blast:WD40
|
694 |
755 |
2e-7 |
BLAST |
|
WD40
|
846 |
881 |
3.84e0 |
SMART |
|
WD40
|
884 |
926 |
5.55e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222764
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
|
| 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) and may facilitate the 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. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,506,354 (GRCm38) |
E98K |
possibly damaging |
Het |
| Adipor1 |
T |
C |
1: 134,426,040 (GRCm38) |
W188R |
possibly damaging |
Het |
| Agrn |
T |
C |
4: 156,178,497 (GRCm38) |
D441G |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,383,490 (GRCm38) |
S570P |
probably benign |
Het |
| Ano9 |
C |
G |
7: 141,110,482 (GRCm38) |
G80R |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,634,437 (GRCm38) |
V250E |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,774,358 (GRCm38) |
D583G |
possibly damaging |
Het |
| Bcar3 |
T |
A |
3: 122,426,575 (GRCm38) |
D40E |
possibly damaging |
Het |
| Capn12 |
A |
G |
7: 28,882,860 (GRCm38) |
D133G |
probably benign |
Het |
| Ccna1 |
A |
T |
3: 55,048,569 (GRCm38) |
Y269N |
probably damaging |
Het |
| Cct6b |
A |
T |
11: 82,741,413 (GRCm38) |
Y250N |
probably damaging |
Het |
| Cep112 |
A |
C |
11: 108,437,235 (GRCm38) |
K98Q |
probably damaging |
Het |
| Chst13 |
T |
C |
6: 90,318,269 (GRCm38) |
D54G |
probably damaging |
Het |
| Clstn2 |
G |
T |
9: 97,469,819 (GRCm38) |
H518N |
possibly damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,182,435 (GRCm38) |
L581M |
probably damaging |
Het |
| Cog3 |
T |
A |
14: 75,729,393 (GRCm38) |
M446L |
probably damaging |
Het |
| Dennd2c |
T |
A |
3: 103,161,555 (GRCm38) |
I756K |
probably damaging |
Het |
| Dennd3 |
T |
G |
15: 73,532,895 (GRCm38) |
L273R |
probably damaging |
Het |
| Dhx34 |
C |
A |
7: 16,218,541 (GRCm38) |
R53L |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,881,740 (GRCm38) |
T3722I |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,892,752 (GRCm38) |
|
probably null |
Het |
| Dusp6 |
A |
G |
10: 99,266,241 (GRCm38) |
Y217C |
probably damaging |
Het |
| Dyrk1b |
G |
A |
7: 28,184,253 (GRCm38) |
R178Q |
possibly damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,686,895 (GRCm38) |
C1009S |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,243,697 (GRCm38) |
T57S |
probably damaging |
Het |
| Gask1a |
T |
C |
9: 121,978,223 (GRCm38) |
F478L |
possibly damaging |
Het |
| Gjc2 |
A |
G |
11: 59,177,359 (GRCm38) |
V99A |
possibly damaging |
Het |
| Gm9955 |
A |
T |
18: 24,709,092 (GRCm38) |
|
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,826,290 (GRCm38) |
I734V |
possibly damaging |
Het |
| H1f2 |
A |
G |
13: 23,739,407 (GRCm38) |
S187G |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,451,119 (GRCm38) |
H2494L |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,266,524 (GRCm38) |
|
probably null |
Het |
| Hmgcs1 |
A |
G |
13: 119,699,815 (GRCm38) |
|
probably null |
Het |
| Invs |
A |
T |
4: 48,416,084 (GRCm38) |
T655S |
probably benign |
Het |
| Ipo9 |
G |
A |
1: 135,402,245 (GRCm38) |
L486F |
probably damaging |
Het |
| Katnip |
T |
C |
7: 125,854,561 (GRCm38) |
V1150A |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,832,965 (GRCm38) |
L96M |
probably benign |
Het |
| Lfng |
A |
G |
5: 140,614,267 (GRCm38) |
D354G |
possibly damaging |
Het |
| Lgsn |
T |
C |
1: 31,196,872 (GRCm38) |
L139P |
probably damaging |
Het |
| Madd |
C |
A |
2: 91,163,545 (GRCm38) |
V923L |
probably damaging |
Het |
| Mical1 |
A |
T |
10: 41,478,965 (GRCm38) |
I157F |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,152,816 (GRCm38) |
N154S |
possibly damaging |
Het |
| Mrps14 |
A |
G |
1: 160,195,535 (GRCm38) |
K6R |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,861,073 (GRCm38) |
C421S |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,868,295 (GRCm38) |
I696T |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 66,883,545 (GRCm38) |
Y375H |
probably damaging |
Het |
| Nsf |
T |
A |
11: 103,863,255 (GRCm38) |
E485V |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,309,885 (GRCm38) |
D307G |
probably damaging |
Het |
| Ocel1 |
C |
A |
8: 71,372,478 (GRCm38) |
P108T |
probably damaging |
Het |
| Oip5 |
A |
G |
2: 119,613,059 (GRCm38) |
S177P |
probably damaging |
Het |
| Omg |
A |
G |
11: 79,501,758 (GRCm38) |
W425R |
possibly damaging |
Het |
| Or1ad8 |
A |
C |
11: 51,007,523 (GRCm38) |
I184L |
possibly damaging |
Het |
| Or1l4 |
A |
G |
2: 37,201,930 (GRCm38) |
I230V |
probably benign |
Het |
| Or5an10 |
G |
A |
19: 12,298,644 (GRCm38) |
Q163* |
probably null |
Het |
| Or8g26 |
A |
C |
9: 39,184,184 (GRCm38) |
E2A |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,253,407 (GRCm38) |
Y1339C |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,922,949 (GRCm38) |
D6G |
possibly damaging |
Het |
| Pou4f3 |
C |
A |
18: 42,395,415 (GRCm38) |
P141Q |
probably benign |
Het |
| Rcsd1 |
T |
A |
1: 165,655,501 (GRCm38) |
N337I |
possibly damaging |
Het |
| Rhoj |
C |
T |
12: 75,391,712 (GRCm38) |
P91S |
probably damaging |
Het |
| Rnf10 |
A |
G |
5: 115,249,998 (GRCm38) |
F367S |
probably damaging |
Het |
| Rnft1 |
A |
T |
11: 86,493,196 (GRCm38) |
R307S |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,754,877 (GRCm38) |
F2788Y |
probably damaging |
Het |
| Scgb1c1 |
A |
G |
7: 140,846,224 (GRCm38) |
K78E |
possibly damaging |
Het |
| Scn5a |
G |
T |
9: 119,560,286 (GRCm38) |
A123E |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,549,839 (GRCm38) |
Y623* |
probably null |
Het |
| Slc49a3 |
A |
T |
5: 108,448,863 (GRCm38) |
M1K |
probably null |
Het |
| Spmap2l |
A |
G |
5: 77,016,486 (GRCm38) |
D112G |
possibly damaging |
Het |
| Tbl2 |
C |
T |
5: 135,157,591 (GRCm38) |
Q216* |
probably null |
Het |
| Tnc |
A |
G |
4: 64,008,709 (GRCm38) |
I860T |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,373,303 (GRCm38) |
K484R |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,390,567 (GRCm38) |
V2124A |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 45,310,332 (GRCm38) |
W713R |
probably damaging |
Het |
| Uap1l1 |
T |
C |
2: 25,362,676 (GRCm38) |
T451A |
probably benign |
Het |
| Uba6 |
A |
T |
5: 86,131,260 (GRCm38) |
C668S |
probably damaging |
Het |
| Ubxn11 |
T |
C |
4: 134,126,624 (GRCm38) |
F441S |
probably damaging |
Het |
| Vmn1r22 |
C |
T |
6: 57,900,738 (GRCm38) |
V85M |
probably damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,751,942 (GRCm38) |
I90L |
probably damaging |
Het |
| Zfp330 |
T |
C |
8: 82,764,956 (GRCm38) |
E196G |
probably benign |
Het |
| Zfp746 |
A |
G |
6: 48,082,174 (GRCm38) |
V167A |
possibly damaging |
Het |
| Zfp994 |
T |
C |
17: 22,201,713 (GRCm38) |
E85G |
possibly damaging |
Het |
|
| Other mutations in Wdr60 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Wdr60
|
APN |
12 |
116,241,780 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00668:Wdr60
|
APN |
12 |
116,257,428 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL00914:Wdr60
|
APN |
12 |
116,232,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01061:Wdr60
|
APN |
12 |
116,229,704 (GRCm38) |
missense |
probably benign |
0.45 |
|
IGL01375:Wdr60
|
APN |
12 |
116,229,676 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL01758:Wdr60
|
APN |
12 |
116,218,798 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01930:Wdr60
|
APN |
12 |
116,225,963 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02028:Wdr60
|
APN |
12 |
116,256,061 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL03180:Wdr60
|
APN |
12 |
116,218,865 (GRCm38) |
missense |
probably benign |
0.07 |
|
F5770:Wdr60
|
UTSW |
12 |
116,211,840 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0153:Wdr60
|
UTSW |
12 |
116,232,636 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0265:Wdr60
|
UTSW |
12 |
116,257,406 (GRCm38) |
splice site |
probably benign |
|
|
R0364:Wdr60
|
UTSW |
12 |
116,257,477 (GRCm38) |
splice site |
probably benign |
|
|
R0601:Wdr60
|
UTSW |
12 |
116,255,935 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R0624:Wdr60
|
UTSW |
12 |
116,248,290 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0755:Wdr60
|
UTSW |
12 |
116,211,792 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1023:Wdr60
|
UTSW |
12 |
116,232,657 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1065:Wdr60
|
UTSW |
12 |
116,256,076 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1543:Wdr60
|
UTSW |
12 |
116,231,784 (GRCm38) |
splice site |
probably benign |
|
|
R1663:Wdr60
|
UTSW |
12 |
116,229,610 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1678:Wdr60
|
UTSW |
12 |
116,225,970 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1719:Wdr60
|
UTSW |
12 |
116,255,912 (GRCm38) |
missense |
probably benign |
|
|
R1755:Wdr60
|
UTSW |
12 |
116,226,029 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1832:Wdr60
|
UTSW |
12 |
116,207,743 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1918:Wdr60
|
UTSW |
12 |
116,232,601 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2291:Wdr60
|
UTSW |
12 |
116,229,571 (GRCm38) |
splice site |
probably null |
|
|
R2444:Wdr60
|
UTSW |
12 |
116,232,669 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3419:Wdr60
|
UTSW |
12 |
116,224,977 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3699:Wdr60
|
UTSW |
12 |
116,211,842 (GRCm38) |
nonsense |
probably null |
|
|
R3700:Wdr60
|
UTSW |
12 |
116,211,842 (GRCm38) |
nonsense |
probably null |
|
|
R4445:Wdr60
|
UTSW |
12 |
116,207,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4664:Wdr60
|
UTSW |
12 |
116,256,211 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4954:Wdr60
|
UTSW |
12 |
116,256,025 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5057:Wdr60
|
UTSW |
12 |
116,213,413 (GRCm38) |
missense |
probably benign |
0.43 |
|
R5163:Wdr60
|
UTSW |
12 |
116,255,866 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R5341:Wdr60
|
UTSW |
12 |
116,255,914 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R5870:Wdr60
|
UTSW |
12 |
116,256,245 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5925:Wdr60
|
UTSW |
12 |
116,233,394 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6223:Wdr60
|
UTSW |
12 |
116,257,458 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6364:Wdr60
|
UTSW |
12 |
116,241,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6450:Wdr60
|
UTSW |
12 |
116,246,727 (GRCm38) |
nonsense |
probably null |
|
|
R6462:Wdr60
|
UTSW |
12 |
116,229,631 (GRCm38) |
missense |
probably benign |
|
|
R6751:Wdr60
|
UTSW |
12 |
116,213,456 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R6896:Wdr60
|
UTSW |
12 |
116,229,671 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R6962:Wdr60
|
UTSW |
12 |
116,211,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7033:Wdr60
|
UTSW |
12 |
116,211,891 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7042:Wdr60
|
UTSW |
12 |
116,254,441 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7254:Wdr60
|
UTSW |
12 |
116,262,585 (GRCm38) |
intron |
probably benign |
|
|
R7567:Wdr60
|
UTSW |
12 |
116,254,510 (GRCm38) |
splice site |
probably null |
|
|
R7889:Wdr60
|
UTSW |
12 |
116,255,939 (GRCm38) |
nonsense |
probably null |
|
|
R8082:Wdr60
|
UTSW |
12 |
116,213,507 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8288:Wdr60
|
UTSW |
12 |
116,213,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8309:Wdr60
|
UTSW |
12 |
116,256,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8682:Wdr60
|
UTSW |
12 |
116,224,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8683:Wdr60
|
UTSW |
12 |
116,229,642 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8699:Wdr60
|
UTSW |
12 |
116,207,701 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8782:Wdr60
|
UTSW |
12 |
116,241,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8809:Wdr60
|
UTSW |
12 |
116,229,614 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9281:Wdr60
|
UTSW |
12 |
116,248,057 (GRCm38) |
nonsense |
probably null |
|
|
R9530:Wdr60
|
UTSW |
12 |
116,211,791 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9751:Wdr60
|
UTSW |
12 |
116,241,783 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
V7581:Wdr60
|
UTSW |
12 |
116,211,840 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
V7582:Wdr60
|
UTSW |
12 |
116,211,840 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
V7583:Wdr60
|
UTSW |
12 |
116,211,840 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
X0063:Wdr60
|
UTSW |
12 |
116,255,869 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Wdr60
|
UTSW |
12 |
116,246,099 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACTGCTCCAGCTAATGAGATG -3'
(R):5'- TGTACAGACAGCTACCAATGAGG -3'
Sequencing Primer
(F):5'- GCTCCAGCTAATGAGATGTTTATCC -3'
(R):5'- ACATTTGTCACTAGTTCTAAAGCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation