Incidental Mutation 'R1636:Wdr72'
ID |
173176 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr72
|
Ensembl Gene |
ENSMUSG00000044976 |
Gene Name |
WD repeat domain 72 |
Synonyms |
|
MMRRC Submission |
039672-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R1636 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
74017608-74190485 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 74086907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 625
(H625L)
|
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: H637L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000057320 Gene: ENSMUSG00000044976 AA Change: H637L
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: H625L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
96% (85/89) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
Abca7 |
A |
G |
10: 79,844,832 (GRCm39) |
H1518R |
probably benign |
Het |
Adam4 |
A |
G |
12: 81,466,464 (GRCm39) |
L719S |
probably damaging |
Het |
Adprm |
T |
C |
11: 66,932,549 (GRCm39) |
Y120C |
possibly damaging |
Het |
Arhgap25 |
T |
A |
6: 87,472,923 (GRCm39) |
Y78F |
probably damaging |
Het |
Asap1 |
G |
A |
15: 63,995,761 (GRCm39) |
P665L |
probably damaging |
Het |
Bank1 |
T |
C |
3: 135,788,987 (GRCm39) |
K637R |
probably damaging |
Het |
Bcr |
T |
A |
10: 74,966,898 (GRCm39) |
L502M |
probably damaging |
Het |
Brwd1 |
A |
G |
16: 95,860,841 (GRCm39) |
L315P |
probably damaging |
Het |
Btbd7 |
A |
T |
12: 102,760,110 (GRCm39) |
Y613N |
probably damaging |
Het |
Cdca7l |
G |
A |
12: 117,840,663 (GRCm39) |
R395H |
probably damaging |
Het |
Cftr |
T |
A |
6: 18,226,156 (GRCm39) |
I368K |
probably damaging |
Het |
D6Wsu163e |
T |
C |
6: 126,923,564 (GRCm39) |
V150A |
possibly damaging |
Het |
Ddx52 |
A |
G |
11: 83,846,169 (GRCm39) |
T470A |
probably damaging |
Het |
Def6 |
A |
G |
17: 28,442,892 (GRCm39) |
E316G |
possibly damaging |
Het |
Dip2a |
A |
T |
10: 76,157,412 (GRCm39) |
N64K |
probably benign |
Het |
Dlgap4 |
G |
T |
2: 156,587,997 (GRCm39) |
E631* |
probably null |
Het |
Dner |
T |
C |
1: 84,563,051 (GRCm39) |
K190E |
possibly damaging |
Het |
Eif2b4 |
T |
A |
5: 31,349,610 (GRCm39) |
|
probably null |
Het |
Eif3a |
A |
T |
19: 60,770,343 (GRCm39) |
D119E |
possibly damaging |
Het |
Ercc2 |
C |
T |
7: 19,121,049 (GRCm39) |
T276M |
possibly damaging |
Het |
Exoc1 |
A |
G |
5: 76,715,965 (GRCm39) |
K830R |
probably benign |
Het |
F2r |
G |
T |
13: 95,740,400 (GRCm39) |
Y378* |
probably null |
Het |
Fam186a |
G |
A |
15: 99,839,539 (GRCm39) |
T2235I |
unknown |
Het |
Fmo3 |
T |
G |
1: 162,781,994 (GRCm39) |
K453T |
probably benign |
Het |
Fzd3 |
A |
T |
14: 65,490,555 (GRCm39) |
D9E |
probably benign |
Het |
Galns |
A |
G |
8: 123,330,955 (GRCm39) |
|
probably benign |
Het |
Gm1818 |
T |
C |
12: 48,602,550 (GRCm39) |
|
noncoding transcript |
Het |
Gm9955 |
C |
A |
18: 24,842,287 (GRCm39) |
|
probably benign |
Het |
Immp2l |
T |
C |
12: 41,750,470 (GRCm39) |
V113A |
probably damaging |
Het |
Iyd |
T |
A |
10: 3,495,588 (GRCm39) |
M82K |
possibly damaging |
Het |
Kif21a |
A |
T |
15: 90,869,008 (GRCm39) |
|
probably benign |
Het |
Lipf |
A |
G |
19: 33,953,935 (GRCm39) |
D342G |
probably damaging |
Het |
Lmbrd1 |
C |
A |
1: 24,786,011 (GRCm39) |
Y435* |
probably null |
Het |
Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
Mtrf1l |
A |
G |
10: 5,763,265 (GRCm39) |
S355P |
probably damaging |
Het |
Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
Neo1 |
T |
C |
9: 58,820,560 (GRCm39) |
S788G |
probably damaging |
Het |
Nfx1 |
T |
G |
4: 41,016,072 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
T |
C |
7: 6,069,737 (GRCm39) |
V546A |
possibly damaging |
Het |
Nwd2 |
G |
A |
5: 63,964,900 (GRCm39) |
V1495M |
probably damaging |
Het |
Oaf |
T |
A |
9: 43,150,621 (GRCm39) |
I84F |
probably benign |
Het |
Obscn |
A |
G |
11: 59,013,463 (GRCm39) |
F1153S |
probably damaging |
Het |
Ofcc1 |
A |
T |
13: 40,333,904 (GRCm39) |
C396S |
possibly damaging |
Het |
Omg |
A |
G |
11: 79,393,166 (GRCm39) |
S231P |
probably benign |
Het |
Or51a7 |
T |
G |
7: 102,614,898 (GRCm39) |
I197S |
possibly damaging |
Het |
Or8g35 |
T |
C |
9: 39,381,215 (GRCm39) |
D269G |
probably benign |
Het |
Pdcl3 |
A |
G |
1: 39,034,016 (GRCm39) |
T53A |
possibly damaging |
Het |
Pik3r2 |
A |
T |
8: 71,224,542 (GRCm39) |
H244Q |
probably benign |
Het |
Pinx1 |
A |
T |
14: 64,103,586 (GRCm39) |
H55L |
probably damaging |
Het |
Pwwp2b |
T |
A |
7: 138,834,758 (GRCm39) |
H66Q |
probably benign |
Het |
Rell2 |
A |
G |
18: 38,091,132 (GRCm39) |
D99G |
probably damaging |
Het |
Reln |
G |
A |
5: 22,203,681 (GRCm39) |
A1191V |
probably damaging |
Het |
Rprm |
T |
C |
2: 53,975,316 (GRCm39) |
M1V |
probably null |
Het |
Sav1 |
A |
C |
12: 70,031,269 (GRCm39) |
H84Q |
probably benign |
Het |
Scamp5 |
T |
C |
9: 57,358,692 (GRCm39) |
D28G |
possibly damaging |
Het |
Selenbp2 |
G |
A |
3: 94,604,122 (GRCm39) |
G9D |
probably damaging |
Het |
Sh3tc2 |
T |
C |
18: 62,122,792 (GRCm39) |
W518R |
probably damaging |
Het |
Slc10a6 |
A |
T |
5: 103,777,012 (GRCm39) |
N29K |
probably benign |
Het |
Spindoc |
C |
A |
19: 7,351,922 (GRCm39) |
D142Y |
probably damaging |
Het |
Spink12 |
T |
A |
18: 44,240,795 (GRCm39) |
D60E |
probably benign |
Het |
Sugt1 |
A |
G |
14: 79,825,422 (GRCm39) |
I23V |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,051,506 (GRCm39) |
C4079R |
probably benign |
Het |
Tex15 |
T |
G |
8: 34,066,415 (GRCm39) |
Y1948* |
probably null |
Het |
Thoc2l |
T |
A |
5: 104,668,616 (GRCm39) |
M1046K |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,213,814 (GRCm39) |
E321G |
probably damaging |
Het |
Tmem198b |
A |
G |
10: 128,638,065 (GRCm39) |
L166P |
probably damaging |
Het |
Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,730,566 (GRCm39) |
|
probably benign |
Het |
Unc13a |
G |
A |
8: 72,106,034 (GRCm39) |
T690I |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,198,373 (GRCm39) |
I1479T |
possibly damaging |
Het |
Vcan |
G |
A |
13: 89,851,786 (GRCm39) |
T1058I |
possibly damaging |
Het |
Vmn1r84 |
T |
C |
7: 12,096,522 (GRCm39) |
Q45R |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,790,380 (GRCm39) |
N209D |
probably damaging |
Het |
Wbp1l |
A |
G |
19: 46,632,883 (GRCm39) |
Y40C |
probably damaging |
Het |
Zeb2 |
T |
C |
2: 44,892,623 (GRCm39) |
Y195C |
probably damaging |
Het |
Zkscan6 |
C |
T |
11: 65,705,256 (GRCm39) |
|
probably benign |
Het |
Zmym6 |
C |
A |
4: 127,017,560 (GRCm39) |
H1022N |
probably 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 |
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 |
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'- AGACAAAGCTCACAGGCTGGTTC -3'
(R):5'- TGTTCCACCCAACATCACTGGAAAG -3'
Sequencing Primer
(F):5'- CAAGGTCCTTTTGTGAACATGTC -3'
(R):5'- CAACATCACTGGAAAGATGACG -3'
|
Posted On |
2014-04-24 |