Incidental Mutation 'R4694:Wdr72'
ID |
355570 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr72
|
Ensembl Gene |
ENSMUSG00000044976 |
Gene Name |
WD repeat domain 72 |
Synonyms |
|
MMRRC Submission |
041945-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R4694 (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 T
at 74086837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 602
(I602F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055879]
[ENSMUST00000215440]
|
AlphaFold |
D3YYM4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055879
AA Change: I614F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057320 Gene: ENSMUSG00000044976 AA Change: I614F
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 damaging
Transcript: ENSMUST00000215440
AA Change: I602F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,979,586 (GRCm39) |
F258Y |
probably damaging |
Het |
Adamtsl4 |
C |
T |
3: 95,587,055 (GRCm39) |
R765H |
probably damaging |
Het |
Bicd1 |
T |
A |
6: 149,311,051 (GRCm39) |
L42Q |
probably damaging |
Het |
Cacna1e |
C |
T |
1: 154,313,012 (GRCm39) |
|
probably null |
Het |
Capn1 |
T |
A |
19: 6,044,761 (GRCm39) |
K504* |
probably null |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,804,332 (GRCm39) |
K917R |
probably damaging |
Het |
Cp |
A |
T |
3: 20,029,049 (GRCm39) |
T509S |
probably benign |
Het |
Cyp2d10 |
T |
C |
15: 82,288,684 (GRCm39) |
D266G |
probably damaging |
Het |
Dhodh |
C |
G |
8: 110,333,048 (GRCm39) |
R7P |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,354,189 (GRCm39) |
L419P |
probably benign |
Het |
Epb41l4b |
A |
T |
4: 57,019,875 (GRCm39) |
M84K |
probably benign |
Het |
Fbln7 |
A |
G |
2: 128,722,345 (GRCm39) |
|
probably null |
Het |
Fbxw11 |
C |
T |
11: 32,592,820 (GRCm39) |
|
probably benign |
Het |
Flnc |
C |
A |
6: 29,443,447 (GRCm39) |
P543T |
probably damaging |
Het |
Grid1 |
T |
C |
14: 34,748,737 (GRCm39) |
S186P |
probably damaging |
Het |
Hcfc2 |
C |
T |
10: 82,559,534 (GRCm39) |
T382M |
probably damaging |
Het |
Hdac9 |
G |
T |
12: 34,487,246 (GRCm39) |
L73I |
probably damaging |
Het |
Hnrnpa2b1 |
A |
T |
6: 51,441,163 (GRCm39) |
D302E |
probably damaging |
Het |
Ifi204 |
C |
T |
1: 173,576,825 (GRCm39) |
C592Y |
probably damaging |
Het |
Jph1 |
T |
A |
1: 17,067,729 (GRCm39) |
I653F |
probably damaging |
Het |
Kcnj3 |
A |
G |
2: 55,484,918 (GRCm39) |
K339E |
probably benign |
Het |
Kcp |
G |
A |
6: 29,493,196 (GRCm39) |
T838I |
probably benign |
Het |
Krtap26-1 |
A |
T |
16: 88,444,108 (GRCm39) |
V171E |
possibly damaging |
Het |
Lck |
G |
T |
4: 129,442,765 (GRCm39) |
N452K |
possibly damaging |
Het |
Madd |
A |
G |
2: 90,990,673 (GRCm39) |
L1134S |
probably damaging |
Het |
Mafk |
T |
C |
5: 139,786,248 (GRCm39) |
S149P |
probably damaging |
Het |
Man1c1 |
T |
C |
4: 134,430,500 (GRCm39) |
D94G |
probably benign |
Het |
Me2 |
T |
A |
18: 73,934,930 (GRCm39) |
M38L |
probably benign |
Het |
Muc2 |
A |
C |
7: 141,306,082 (GRCm39) |
D257A |
probably damaging |
Het |
Myh11 |
T |
C |
16: 14,018,566 (GRCm39) |
K1927E |
probably damaging |
Het |
Naaladl1 |
C |
T |
19: 6,158,920 (GRCm39) |
P324S |
probably damaging |
Het |
Ndufa10 |
T |
C |
1: 92,379,824 (GRCm39) |
E303G |
probably benign |
Het |
Nedd1 |
C |
T |
10: 92,555,444 (GRCm39) |
V14I |
probably benign |
Het |
Nwd1 |
T |
G |
8: 73,393,958 (GRCm39) |
V407G |
probably damaging |
Het |
Or2h15 |
A |
C |
17: 38,441,748 (GRCm39) |
C112G |
probably damaging |
Het |
Or4b1d |
T |
A |
2: 89,968,593 (GRCm39) |
K297* |
probably null |
Het |
Or4k15c |
T |
C |
14: 50,321,476 (GRCm39) |
I221V |
probably benign |
Het |
Or5w13 |
T |
A |
2: 87,524,104 (GRCm39) |
T41S |
probably benign |
Het |
Or7g29 |
A |
G |
9: 19,286,694 (GRCm39) |
L161P |
probably damaging |
Het |
Pgrmc2 |
T |
C |
3: 41,024,840 (GRCm39) |
D144G |
probably damaging |
Het |
Ppp3cb |
T |
C |
14: 20,551,583 (GRCm39) |
N516S |
probably benign |
Het |
Pramel27 |
T |
C |
4: 143,579,530 (GRCm39) |
S372P |
probably damaging |
Het |
Prelp |
A |
G |
1: 133,842,485 (GRCm39) |
M220T |
probably damaging |
Het |
Prss36 |
A |
G |
7: 127,534,787 (GRCm39) |
W465R |
probably damaging |
Het |
Pth2r |
C |
A |
1: 65,375,920 (GRCm39) |
F59L |
probably benign |
Het |
Rab20 |
C |
T |
8: 11,504,485 (GRCm39) |
G72R |
probably damaging |
Het |
Rab4a |
G |
T |
8: 124,555,769 (GRCm39) |
G49W |
probably damaging |
Het |
Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
Rhox2c |
A |
C |
X: 36,635,351 (GRCm39) |
Q4H |
probably benign |
Het |
Rock1 |
A |
T |
18: 10,136,152 (GRCm39) |
Y178* |
probably null |
Het |
Scaf8 |
C |
A |
17: 3,247,679 (GRCm39) |
L1001I |
probably damaging |
Het |
Sema3b |
G |
A |
9: 107,482,201 (GRCm39) |
P26S |
probably benign |
Het |
Slc23a1 |
A |
G |
18: 35,752,633 (GRCm39) |
L548P |
probably damaging |
Het |
Sncaip |
A |
C |
18: 53,039,629 (GRCm39) |
T548P |
probably benign |
Het |
Stpg2 |
C |
T |
3: 139,023,177 (GRCm39) |
P398S |
possibly damaging |
Het |
Stpg3 |
A |
C |
2: 25,103,309 (GRCm39) |
V260G |
probably damaging |
Het |
Tbc1d9 |
T |
A |
8: 83,960,875 (GRCm39) |
F242I |
probably damaging |
Het |
Tnks1bp1 |
G |
A |
2: 84,902,066 (GRCm39) |
R992Q |
probably damaging |
Het |
Tom1l1 |
T |
G |
11: 90,537,675 (GRCm39) |
H394P |
possibly damaging |
Het |
Topors |
T |
G |
4: 40,261,442 (GRCm39) |
N614T |
possibly damaging |
Het |
Trank1 |
A |
T |
9: 111,221,129 (GRCm39) |
Q2622L |
probably benign |
Het |
Trub2 |
A |
G |
2: 29,668,858 (GRCm39) |
S186P |
probably damaging |
Het |
Unc13c |
T |
A |
9: 73,479,636 (GRCm39) |
H1756L |
probably benign |
Het |
Vmn1r9 |
A |
T |
6: 57,048,314 (GRCm39) |
I130F |
probably benign |
Het |
Zfand3 |
T |
A |
17: 30,354,362 (GRCm39) |
F60I |
possibly damaging |
Het |
Zfp946 |
G |
A |
17: 22,674,692 (GRCm39) |
G482E |
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 |
R1687:Wdr72
|
UTSW |
9 |
74,117,481 (GRCm39) |
missense |
probably benign |
0.13 |
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 |
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'- GCTCACAGGCTGGTTCTTTCTG -3'
(R):5'- CCAGTTGCTATGTCCCTGTG -3'
Sequencing Primer
(F):5'- CTTTCTGTTGTAAGAAGGCAGGAATG -3'
(R):5'- CAGGATAGATGCAGACTCACCTTAC -3'
|
Posted On |
2015-10-21 |