Incidental Mutation 'R1668:Wdr72'
ID |
187375 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr72
|
Ensembl Gene |
ENSMUSG00000044976 |
Gene Name |
WD repeat domain 72 |
Synonyms |
|
MMRRC Submission |
039704-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R1668 (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 74117444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 719
(S719G)
|
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: S731G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000057320 Gene: ENSMUSG00000044976 AA Change: S731G
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: S719G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra2c |
T |
C |
5: 35,437,641 (GRCm39) |
S138P |
probably damaging |
Het |
Appl1 |
A |
C |
14: 26,645,811 (GRCm39) |
S666R |
probably damaging |
Het |
Arhgap45 |
A |
G |
10: 79,864,584 (GRCm39) |
S879G |
possibly damaging |
Het |
Calcoco2 |
T |
C |
11: 95,993,563 (GRCm39) |
M140V |
probably benign |
Het |
Cap2 |
C |
A |
13: 46,768,799 (GRCm39) |
H147N |
probably damaging |
Het |
Chd9 |
A |
T |
8: 91,767,814 (GRCm39) |
H2437L |
probably damaging |
Het |
Col5a3 |
A |
G |
9: 20,682,392 (GRCm39) |
I1684T |
unknown |
Het |
Comp |
A |
T |
8: 70,831,607 (GRCm39) |
|
probably null |
Het |
Cyp2c50 |
A |
T |
19: 40,079,499 (GRCm39) |
M198L |
probably benign |
Het |
Dnaaf2 |
A |
G |
12: 69,243,465 (GRCm39) |
V532A |
probably benign |
Het |
Dnah10 |
A |
T |
5: 124,842,626 (GRCm39) |
Q1358L |
probably benign |
Het |
Dop1b |
T |
A |
16: 93,562,404 (GRCm39) |
S832T |
probably damaging |
Het |
Dus3l |
T |
G |
17: 57,073,912 (GRCm39) |
F162C |
possibly damaging |
Het |
Epb41l4a |
A |
G |
18: 34,054,962 (GRCm39) |
L42P |
probably damaging |
Het |
Ercc5 |
T |
A |
1: 44,206,193 (GRCm39) |
S369T |
probably benign |
Het |
Fbxl2 |
C |
T |
9: 113,818,214 (GRCm39) |
V211M |
probably benign |
Het |
Fermt3 |
A |
G |
19: 6,996,060 (GRCm39) |
V45A |
probably damaging |
Het |
Frs3 |
C |
A |
17: 48,014,147 (GRCm39) |
P280Q |
possibly damaging |
Het |
Fxn |
A |
G |
19: 24,239,377 (GRCm39) |
Y172H |
probably damaging |
Het |
Gabpa |
T |
C |
16: 84,643,069 (GRCm39) |
V122A |
probably damaging |
Het |
Gsta4 |
A |
G |
9: 78,111,570 (GRCm39) |
T66A |
probably benign |
Het |
Hsdl2 |
C |
T |
4: 59,612,697 (GRCm39) |
T296M |
probably damaging |
Het |
Kank4 |
T |
C |
4: 98,667,133 (GRCm39) |
N438S |
probably damaging |
Het |
Krt24 |
A |
G |
11: 99,175,444 (GRCm39) |
I197T |
probably benign |
Het |
Lct |
T |
C |
1: 128,215,459 (GRCm39) |
|
probably null |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Mc4r |
A |
G |
18: 66,992,480 (GRCm39) |
L211P |
probably damaging |
Het |
Mfsd4b5 |
T |
C |
10: 39,849,687 (GRCm39) |
T111A |
probably damaging |
Het |
Mgat5b |
T |
A |
11: 116,874,474 (GRCm39) |
N635K |
probably benign |
Het |
Mms19 |
A |
T |
19: 41,940,995 (GRCm39) |
M443K |
possibly damaging |
Het |
Morc2a |
G |
A |
11: 3,625,885 (GRCm39) |
V162M |
probably benign |
Het |
Mroh5 |
T |
C |
15: 73,659,754 (GRCm39) |
N359S |
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,852,161 (GRCm39) |
I843V |
possibly damaging |
Het |
Nbeal2 |
T |
C |
9: 110,467,961 (GRCm39) |
D436G |
probably damaging |
Het |
Nbr1 |
A |
G |
11: 101,460,592 (GRCm39) |
D502G |
probably benign |
Het |
Ngfr |
C |
T |
11: 95,478,371 (GRCm39) |
G5D |
probably damaging |
Het |
Nlrc4 |
G |
A |
17: 74,752,901 (GRCm39) |
T494M |
probably damaging |
Het |
Notch3 |
T |
A |
17: 32,377,563 (GRCm39) |
H171L |
probably damaging |
Het |
Nsmaf |
A |
G |
4: 6,398,880 (GRCm39) |
L795P |
probably damaging |
Het |
Nup210 |
T |
C |
6: 91,005,787 (GRCm39) |
T616A |
possibly damaging |
Het |
Or10d5 |
C |
A |
9: 39,861,465 (GRCm39) |
V201L |
possibly damaging |
Het |
Or1j18 |
T |
A |
2: 36,625,204 (GRCm39) |
Y290* |
probably null |
Het |
Or5ak25 |
T |
A |
2: 85,269,220 (GRCm39) |
Y94F |
probably benign |
Het |
Or5b113 |
A |
C |
19: 13,342,234 (GRCm39) |
M81L |
probably benign |
Het |
Osbpl5 |
T |
C |
7: 143,262,776 (GRCm39) |
H192R |
probably damaging |
Het |
Parp2 |
G |
A |
14: 51,058,313 (GRCm39) |
R486Q |
probably benign |
Het |
Pcgf6 |
G |
A |
19: 47,028,544 (GRCm39) |
A286V |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,258,990 (GRCm39) |
T1133A |
probably damaging |
Het |
Plekha2 |
T |
C |
8: 25,562,070 (GRCm39) |
N48S |
probably damaging |
Het |
Pole |
T |
G |
5: 110,445,235 (GRCm39) |
S461A |
probably damaging |
Het |
Ppfibp2 |
T |
C |
7: 107,329,099 (GRCm39) |
L536P |
probably damaging |
Het |
Prkcz |
G |
T |
4: 155,374,208 (GRCm39) |
F69L |
probably damaging |
Het |
Prkd1 |
G |
A |
12: 50,441,709 (GRCm39) |
H277Y |
probably damaging |
Het |
Rab23 |
A |
T |
1: 33,773,935 (GRCm39) |
K132* |
probably null |
Het |
Rbck1 |
T |
A |
2: 152,158,819 (GRCm39) |
S488C |
probably damaging |
Het |
Rbl1 |
T |
C |
2: 157,001,654 (GRCm39) |
Y878C |
probably damaging |
Het |
Rpn2 |
C |
T |
2: 157,136,075 (GRCm39) |
T161M |
possibly damaging |
Het |
Rufy4 |
G |
A |
1: 74,186,837 (GRCm39) |
V542I |
probably benign |
Het |
Serpinb3d |
A |
G |
1: 107,008,481 (GRCm39) |
V128A |
probably benign |
Het |
Smarca2 |
A |
G |
19: 26,624,434 (GRCm39) |
I365V |
possibly damaging |
Het |
Spata31f1a |
G |
T |
4: 42,848,424 (GRCm39) |
T1244K |
probably damaging |
Het |
Sptb |
A |
G |
12: 76,667,943 (GRCm39) |
V718A |
probably benign |
Het |
Susd4 |
A |
G |
1: 182,686,128 (GRCm39) |
H226R |
probably benign |
Het |
Tmem151b |
T |
C |
17: 45,856,831 (GRCm39) |
Y203C |
probably damaging |
Het |
Tmppe |
T |
C |
9: 114,233,968 (GRCm39) |
V89A |
possibly damaging |
Het |
Trappc6b |
A |
T |
12: 59,094,907 (GRCm39) |
|
probably null |
Het |
Ube4b |
A |
T |
4: 149,445,751 (GRCm39) |
M433K |
probably benign |
Het |
Vmn1r202 |
A |
T |
13: 22,685,540 (GRCm39) |
D292E |
possibly damaging |
Het |
Vmn1r22 |
A |
G |
6: 57,877,704 (GRCm39) |
M91T |
probably benign |
Het |
Vmn1r43 |
T |
C |
6: 89,846,683 (GRCm39) |
I268V |
probably benign |
Het |
Vmn1r49 |
T |
A |
6: 90,049,764 (GRCm39) |
R79S |
probably benign |
Het |
Vmn2r14 |
T |
A |
5: 109,366,913 (GRCm39) |
K436* |
probably null |
Het |
Zfp526 |
T |
C |
7: 24,924,967 (GRCm39) |
F409L |
probably benign |
Het |
Zfp804b |
A |
C |
5: 6,821,323 (GRCm39) |
L580R |
possibly damaging |
Het |
Zfp977 |
T |
C |
7: 42,230,070 (GRCm39) |
T152A |
probably benign |
Het |
Zyx |
T |
A |
6: 42,332,966 (GRCm39) |
V372E |
possibly damaging |
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 |
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 |
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 |
2014-05-09 |