Incidental Mutation 'R1687:Wdr72'
| ID |
189431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr72
|
| Ensembl Gene |
ENSMUSG00000044976 |
| Gene Name |
WD repeat domain 72 |
| Synonyms |
|
| MMRRC Submission |
039720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R1687 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
74017608-74190485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74117481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 731
(N731S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055879]
[ENSMUST00000215440]
|
| AlphaFold |
D3YYM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055879
AA Change: N743S
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: N743S
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
45 |
1.24e0 |
SMART |
|
WD40
|
51 |
93 |
1.54e0 |
SMART |
|
WD40
|
143 |
188 |
8.22e1 |
SMART |
|
Blast:WD40
|
319 |
363 |
4e-19 |
BLAST |
|
WD40
|
398 |
443 |
8.88e0 |
SMART |
|
WD40
|
461 |
506 |
5.97e-1 |
SMART |
|
WD40
|
509 |
554 |
9.9e0 |
SMART |
|
WD40
|
557 |
596 |
2.12e-3 |
SMART |
|
low complexity region
|
694 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
798 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215440
AA Change: N731S
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele display hypomineralized enamel, ameloblast abnormalities and decreased post-weaning body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,184,714 (GRCm39) |
F931I |
probably benign |
Het |
| Alox15 |
T |
A |
11: 70,240,744 (GRCm39) |
H212L |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 9,035,538 (GRCm39) |
V268D |
probably benign |
Het |
| Armc9 |
A |
G |
1: 86,084,677 (GRCm39) |
M1V |
probably null |
Het |
| Brca1 |
C |
T |
11: 101,380,666 (GRCm39) |
C1789Y |
probably benign |
Het |
| Cacng4 |
A |
G |
11: 107,627,585 (GRCm39) |
V138A |
probably benign |
Het |
| Camsap1 |
A |
G |
2: 25,829,627 (GRCm39) |
F699S |
probably damaging |
Het |
| Ccm2 |
A |
G |
11: 6,535,118 (GRCm39) |
R67G |
probably damaging |
Het |
| Cdk16 |
G |
A |
X: 20,562,898 (GRCm39) |
|
probably null |
Het |
| Cep85 |
T |
C |
4: 133,875,324 (GRCm39) |
H546R |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,768,502 (GRCm39) |
D207G |
probably damaging |
Het |
| Cldn9 |
G |
T |
17: 23,902,050 (GRCm39) |
R192S |
probably benign |
Het |
| Crybb3 |
A |
G |
5: 113,227,633 (GRCm39) |
S63P |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,341,523 (GRCm39) |
L615P |
probably damaging |
Het |
| Dctn3 |
A |
G |
4: 41,715,407 (GRCm39) |
Y154H |
probably damaging |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,645,009 (GRCm39) |
|
probably null |
Het |
| Eif1ad2 |
A |
G |
12: 87,786,488 (GRCm39) |
D133G |
unknown |
Het |
| Eml6 |
G |
A |
11: 29,783,187 (GRCm39) |
H565Y |
probably damaging |
Het |
| Ephb6 |
T |
C |
6: 41,594,300 (GRCm39) |
V610A |
probably benign |
Het |
| Fam234a |
T |
C |
17: 26,434,282 (GRCm39) |
Y333C |
probably damaging |
Het |
| Fbln1 |
G |
A |
15: 85,111,307 (GRCm39) |
V154I |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,561,373 (GRCm39) |
W1045R |
probably benign |
Het |
| Fubp1 |
A |
G |
3: 151,933,838 (GRCm39) |
|
probably benign |
Het |
| Gja3 |
T |
A |
14: 57,274,333 (GRCm39) |
N13I |
probably damaging |
Het |
| Gpr20 |
C |
A |
15: 73,567,751 (GRCm39) |
V213L |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,065,221 (GRCm39) |
I295T |
probably damaging |
Het |
| Gucy1b1 |
A |
G |
3: 81,945,349 (GRCm39) |
F430L |
probably damaging |
Het |
| Gzmk |
T |
A |
13: 113,310,462 (GRCm39) |
I119L |
probably benign |
Het |
| Hadh |
T |
C |
3: 131,038,898 (GRCm39) |
I153V |
probably benign |
Het |
| Hsfy2 |
T |
C |
1: 56,676,012 (GRCm39) |
Y175C |
probably damaging |
Het |
| Hspa5 |
T |
C |
2: 34,665,836 (GRCm39) |
I560T |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,038,945 (GRCm39) |
V863A |
probably damaging |
Het |
| Il22ra2 |
A |
G |
10: 19,508,620 (GRCm39) |
D216G |
probably benign |
Het |
| Klc2 |
G |
A |
19: 5,161,682 (GRCm39) |
P303S |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,835,859 (GRCm39) |
V1192I |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,862,029 (GRCm39) |
S772P |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,909,935 (GRCm39) |
L96Q |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Nckap1 |
A |
G |
2: 80,350,929 (GRCm39) |
I726T |
probably damaging |
Het |
| Ndnf |
A |
T |
6: 65,680,407 (GRCm39) |
T229S |
probably benign |
Het |
| Npas3 |
A |
T |
12: 54,095,658 (GRCm39) |
|
probably null |
Het |
| Nrap |
C |
T |
19: 56,343,961 (GRCm39) |
E729K |
probably damaging |
Het |
| Nsun2 |
T |
A |
13: 69,775,716 (GRCm39) |
F387I |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Pabpc1l |
C |
T |
2: 163,886,226 (GRCm39) |
T452M |
probably benign |
Het |
| Pcdh10 |
T |
C |
3: 45,334,450 (GRCm39) |
Y255H |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,529,087 (GRCm39) |
Y72N |
probably damaging |
Het |
| Pglyrp1 |
A |
T |
7: 18,618,629 (GRCm39) |
|
probably benign |
Het |
| Pkp2 |
T |
C |
16: 16,086,573 (GRCm39) |
|
probably null |
Het |
| Ppard |
A |
G |
17: 28,516,154 (GRCm39) |
Y126C |
probably damaging |
Het |
| Prkcq |
T |
C |
2: 11,295,344 (GRCm39) |
Y598H |
probably damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,109 (GRCm39) |
T287A |
probably damaging |
Het |
| Sema4b |
T |
C |
7: 79,869,010 (GRCm39) |
Y361H |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,983 (GRCm39) |
I640N |
probably damaging |
Het |
| Smurf2 |
C |
A |
11: 106,726,896 (GRCm39) |
|
probably null |
Het |
| Spag5 |
T |
C |
11: 78,195,755 (GRCm39) |
V354A |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,650,473 (GRCm39) |
D1748G |
possibly damaging |
Het |
| St6galnac5 |
C |
A |
3: 152,686,887 (GRCm39) |
L22F |
probably benign |
Het |
| Sugp2 |
T |
C |
8: 70,695,284 (GRCm39) |
S86P |
probably damaging |
Het |
| Tnk1 |
T |
C |
11: 69,747,299 (GRCm39) |
I111V |
possibly damaging |
Het |
| Tnni3k |
T |
A |
3: 154,645,263 (GRCm39) |
I541F |
possibly damaging |
Het |
| Trim36 |
G |
T |
18: 46,321,724 (GRCm39) |
H108N |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,701,251 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,935,317 (GRCm39) |
S89R |
probably benign |
Het |
| Vmn2r121 |
T |
C |
X: 123,042,488 (GRCm39) |
D223G |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,590,026 (GRCm39) |
Y630F |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,233,673 (GRCm39) |
S900T |
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,525,451 (GRCm39) |
F123L |
probably damaging |
Het |
| Zfp648 |
A |
G |
1: 154,079,988 (GRCm39) |
D49G |
probably benign |
Het |
|
| Other mutations in Wdr72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00838:Wdr72
|
APN |
9 |
74,062,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01385:Wdr72
|
APN |
9 |
74,086,788 (GRCm39) |
splice site |
probably benign |
|
|
IGL01512:Wdr72
|
APN |
9 |
74,056,041 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01544:Wdr72
|
APN |
9 |
74,056,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01938:Wdr72
|
APN |
9 |
74,056,056 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02090:Wdr72
|
APN |
9 |
74,062,212 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02121:Wdr72
|
APN |
9 |
74,189,011 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02140:Wdr72
|
APN |
9 |
74,117,505 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02171:Wdr72
|
APN |
9 |
74,117,816 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02208:Wdr72
|
APN |
9 |
74,064,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02936:Wdr72
|
APN |
9 |
74,059,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02979:Wdr72
|
APN |
9 |
74,086,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Wdr72
|
APN |
9 |
74,064,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Arresting
|
UTSW |
9 |
74,086,783 (GRCm39) |
splice site |
probably benign |
|
|
R0332_Wdr72_931
|
UTSW |
9 |
74,064,534 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2036_Wdr72_658
|
UTSW |
9 |
74,058,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Wdr72
|
UTSW |
9 |
74,064,552 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0107:Wdr72
|
UTSW |
9 |
74,117,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0332:Wdr72
|
UTSW |
9 |
74,064,534 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0420:Wdr72
|
UTSW |
9 |
74,118,039 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0536:Wdr72
|
UTSW |
9 |
74,064,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0565:Wdr72
|
UTSW |
9 |
74,124,588 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0755:Wdr72
|
UTSW |
9 |
74,052,376 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1183:Wdr72
|
UTSW |
9 |
74,086,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1636:Wdr72
|
UTSW |
9 |
74,086,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1668:Wdr72
|
UTSW |
9 |
74,117,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1813:Wdr72
|
UTSW |
9 |
74,183,298 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1835:Wdr72
|
UTSW |
9 |
74,058,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2036:Wdr72
|
UTSW |
9 |
74,058,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Wdr72
|
UTSW |
9 |
74,052,454 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2331:Wdr72
|
UTSW |
9 |
74,055,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2369:Wdr72
|
UTSW |
9 |
74,117,457 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3973:Wdr72
|
UTSW |
9 |
74,125,979 (GRCm39) |
missense |
probably benign |
|
|
R4021:Wdr72
|
UTSW |
9 |
74,058,875 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4596:Wdr72
|
UTSW |
9 |
74,058,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4665:Wdr72
|
UTSW |
9 |
74,117,306 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4694:Wdr72
|
UTSW |
9 |
74,086,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Wdr72
|
UTSW |
9 |
74,117,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5027:Wdr72
|
UTSW |
9 |
74,053,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5269:Wdr72
|
UTSW |
9 |
74,064,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5432:Wdr72
|
UTSW |
9 |
74,183,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5470:Wdr72
|
UTSW |
9 |
74,046,981 (GRCm39) |
nonsense |
probably null |
|
|
R5717:Wdr72
|
UTSW |
9 |
74,055,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5793:Wdr72
|
UTSW |
9 |
74,117,625 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5963:Wdr72
|
UTSW |
9 |
74,052,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6108:Wdr72
|
UTSW |
9 |
74,058,950 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6111:Wdr72
|
UTSW |
9 |
74,117,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6113:Wdr72
|
UTSW |
9 |
74,059,923 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6245:Wdr72
|
UTSW |
9 |
74,055,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6469:Wdr72
|
UTSW |
9 |
74,120,643 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6726:Wdr72
|
UTSW |
9 |
74,059,822 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6857:Wdr72
|
UTSW |
9 |
74,062,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6916:Wdr72
|
UTSW |
9 |
74,062,321 (GRCm39) |
missense |
probably benign |
|
|
R6921:Wdr72
|
UTSW |
9 |
74,117,928 (GRCm39) |
missense |
probably benign |
|
|
R7092:Wdr72
|
UTSW |
9 |
74,117,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7104:Wdr72
|
UTSW |
9 |
74,055,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Wdr72
|
UTSW |
9 |
74,117,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7684:Wdr72
|
UTSW |
9 |
74,054,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8025:Wdr72
|
UTSW |
9 |
74,050,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8035:Wdr72
|
UTSW |
9 |
74,086,783 (GRCm39) |
splice site |
probably benign |
|
|
R8079:Wdr72
|
UTSW |
9 |
74,126,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8142:Wdr72
|
UTSW |
9 |
74,046,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8166:Wdr72
|
UTSW |
9 |
74,120,610 (GRCm39) |
missense |
probably benign |
|
|
R8266:Wdr72
|
UTSW |
9 |
74,050,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8465:Wdr72
|
UTSW |
9 |
74,059,730 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8968:Wdr72
|
UTSW |
9 |
74,059,729 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9074:Wdr72
|
UTSW |
9 |
74,125,902 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9336:Wdr72
|
UTSW |
9 |
74,117,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Wdr72
|
UTSW |
9 |
74,118,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7583:Wdr72
|
UTSW |
9 |
74,064,552 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0067:Wdr72
|
UTSW |
9 |
74,059,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Wdr72
|
UTSW |
9 |
74,117,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGACCTTTCAATGTCCTGCCTG -3'
(R):5'- CCATGTCTATTGTGAGGCTGGCATC -3'
Sequencing Primer
(F):5'- TCAATGTCCTGCCTGTGAAAAC -3'
(R):5'- AGGCTGGCATCCACCTTC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation