Incidental Mutation 'R8968:Wdr72'
ID |
682865 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr72
|
Ensembl Gene |
ENSMUSG00000044976 |
Gene Name |
WD repeat domain 72 |
Synonyms |
|
MMRRC Submission |
068802-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R8968 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
74017608-74190485 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 74059729 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 392
(D392N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057320
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055879]
[ENSMUST00000215440]
|
AlphaFold |
D3YYM4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055879
AA Change: D392N
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000057320 Gene: ENSMUSG00000044976 AA Change: D392N
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: D380N
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,480,429 (GRCm39) |
L1153* |
probably null |
Het |
Adamts2 |
T |
C |
11: 50,683,550 (GRCm39) |
I944T |
possibly damaging |
Het |
Aqp9 |
A |
T |
9: 71,045,485 (GRCm39) |
C67* |
probably null |
Het |
Armt1 |
G |
T |
10: 4,404,150 (GRCm39) |
G412W |
probably damaging |
Het |
B4galt1 |
T |
C |
4: 40,807,243 (GRCm39) |
D381G |
probably benign |
Het |
Bmp5 |
A |
T |
9: 75,780,579 (GRCm39) |
H292L |
probably benign |
Het |
Brpf1 |
T |
C |
6: 113,299,510 (GRCm39) |
F1181S |
probably damaging |
Het |
Btbd7 |
C |
A |
12: 102,779,025 (GRCm39) |
G414C |
probably damaging |
Het |
Ccdc65 |
A |
T |
15: 98,616,723 (GRCm39) |
K204* |
probably null |
Het |
Cdk5 |
T |
A |
5: 24,627,379 (GRCm39) |
K88M |
probably damaging |
Het |
Cdrt4 |
T |
A |
11: 62,883,634 (GRCm39) |
L112Q |
probably damaging |
Het |
Cenpb |
T |
C |
2: 131,020,547 (GRCm39) |
E417G |
unknown |
Het |
Cep135 |
T |
C |
5: 76,754,576 (GRCm39) |
I351T |
possibly damaging |
Het |
Ces1d |
A |
T |
8: 93,914,383 (GRCm39) |
S226R |
probably damaging |
Het |
Cfap97 |
T |
A |
8: 46,623,114 (GRCm39) |
V168E |
possibly damaging |
Het |
CN725425 |
T |
C |
15: 91,130,090 (GRCm39) |
C318R |
possibly damaging |
Het |
Cnga3 |
T |
A |
1: 37,300,460 (GRCm39) |
D393E |
probably benign |
Het |
Cplane1 |
A |
T |
15: 8,230,765 (GRCm39) |
H1014L |
possibly damaging |
Het |
Cpsf1 |
G |
A |
15: 76,486,169 (GRCm39) |
R358* |
probably null |
Het |
Cyp2b23 |
G |
A |
7: 26,378,963 (GRCm39) |
P167L |
probably damaging |
Het |
Cyp2c70 |
A |
T |
19: 40,142,059 (GRCm39) |
H477Q |
probably benign |
Het |
D930020B18Rik |
A |
C |
10: 121,490,721 (GRCm39) |
Y107S |
probably damaging |
Het |
Dhrs1 |
A |
T |
14: 55,978,192 (GRCm39) |
F216I |
probably benign |
Het |
Dmgdh |
A |
T |
13: 93,845,767 (GRCm39) |
K474* |
probably null |
Het |
Dsp |
T |
C |
13: 38,335,596 (GRCm39) |
I11T |
possibly damaging |
Het |
Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
Fmnl1 |
AGGCTCTGG |
AGG |
11: 103,077,444 (GRCm39) |
|
probably benign |
Het |
Grid2 |
A |
C |
6: 64,643,139 (GRCm39) |
H967P |
probably benign |
Het |
Hc |
A |
G |
2: 34,922,317 (GRCm39) |
I503T |
possibly damaging |
Het |
Herc3 |
T |
C |
6: 58,867,183 (GRCm39) |
L824S |
probably damaging |
Het |
Hfm1 |
T |
C |
5: 107,065,439 (GRCm39) |
D80G |
probably benign |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
Hspa1l |
A |
G |
17: 35,196,230 (GRCm39) |
K90E |
possibly damaging |
Het |
Impa2 |
G |
A |
18: 67,451,497 (GRCm39) |
V264I |
probably benign |
Het |
Ipmk |
C |
T |
10: 71,199,333 (GRCm39) |
R65W |
probably damaging |
Het |
Klhl38 |
C |
T |
15: 58,185,500 (GRCm39) |
V410I |
probably benign |
Het |
Lcn4 |
A |
G |
2: 26,558,360 (GRCm39) |
I175T |
possibly damaging |
Het |
Lipo2 |
C |
A |
19: 33,726,917 (GRCm39) |
W40L |
probably damaging |
Het |
Mgam |
A |
T |
6: 40,734,745 (GRCm39) |
|
probably null |
Het |
Myo16 |
T |
A |
8: 10,619,700 (GRCm39) |
I1417N |
unknown |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Or4a66 |
T |
A |
2: 88,531,137 (GRCm39) |
I179F |
probably benign |
Het |
Or52e19b |
A |
T |
7: 103,032,667 (GRCm39) |
C181S |
probably damaging |
Het |
Or5j3 |
G |
A |
2: 86,128,526 (GRCm39) |
R122H |
probably benign |
Het |
Pcdha11 |
A |
G |
18: 37,145,307 (GRCm39) |
N466S |
probably damaging |
Het |
Pif1 |
C |
T |
9: 65,499,076 (GRCm39) |
T432M |
probably damaging |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA |
CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA |
8: 110,350,420 (GRCm39) |
|
probably benign |
Het |
Pole |
T |
C |
5: 110,459,949 (GRCm39) |
S1118P |
possibly damaging |
Het |
Ppp4r4 |
T |
C |
12: 103,566,706 (GRCm39) |
M652T |
probably benign |
Het |
Prex2 |
A |
T |
1: 11,180,562 (GRCm39) |
K376* |
probably null |
Het |
Prps1l1 |
A |
T |
12: 35,035,205 (GRCm39) |
I107F |
probably damaging |
Het |
Resf1 |
T |
A |
6: 149,228,664 (GRCm39) |
V570D |
probably damaging |
Het |
Rfc1 |
C |
T |
5: 65,432,778 (GRCm39) |
V761I |
probably benign |
Het |
Ripk4 |
T |
C |
16: 97,547,203 (GRCm39) |
E353G |
probably benign |
Het |
Robo2 |
C |
A |
16: 73,767,941 (GRCm39) |
|
probably null |
Het |
Rrm1 |
C |
T |
7: 102,117,545 (GRCm39) |
A745V |
probably benign |
Het |
Sash1 |
A |
T |
10: 8,606,179 (GRCm39) |
V737D |
probably benign |
Het |
Sel1l2 |
T |
C |
2: 140,127,209 (GRCm39) |
K101E |
probably benign |
Het |
Selenbp2 |
A |
T |
3: 94,607,337 (GRCm39) |
I253F |
probably benign |
Het |
Setd1a |
C |
T |
7: 127,385,279 (GRCm39) |
P662L |
possibly damaging |
Het |
Slc16a6 |
C |
T |
11: 109,345,776 (GRCm39) |
V496I |
possibly damaging |
Het |
Slc4a4 |
A |
T |
5: 89,232,512 (GRCm39) |
M239L |
probably benign |
Het |
Slc7a8 |
G |
C |
14: 55,018,750 (GRCm39) |
A12G |
probably benign |
Het |
Snx30 |
T |
C |
4: 59,886,517 (GRCm39) |
S309P |
possibly damaging |
Het |
Spen |
T |
C |
4: 141,197,701 (GRCm39) |
N3389S |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,922,687 (GRCm39) |
T921A |
probably damaging |
Het |
Tanc2 |
T |
A |
11: 105,758,400 (GRCm39) |
D720E |
possibly damaging |
Het |
Tmprss9 |
A |
T |
10: 80,730,163 (GRCm39) |
I688F |
possibly damaging |
Het |
Trap1 |
A |
G |
16: 3,862,490 (GRCm39) |
V596A |
possibly damaging |
Het |
Ttc32 |
G |
T |
12: 9,080,187 (GRCm39) |
R44L |
probably benign |
Het |
Tusc3 |
T |
A |
8: 39,597,898 (GRCm39) |
N288K |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,127,956 (GRCm39) |
G656E |
probably damaging |
Het |
Vill |
T |
C |
9: 118,892,671 (GRCm39) |
|
probably null |
Het |
Vmn1r5 |
A |
T |
6: 56,963,182 (GRCm39) |
R286* |
probably null |
Het |
Vmn2r14 |
T |
C |
5: 109,365,533 (GRCm39) |
T514A |
probably benign |
Het |
Vmn2r32 |
G |
A |
7: 7,477,204 (GRCm39) |
H396Y |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,820,765 (GRCm39) |
Y56* |
probably null |
Het |
Wdfy3 |
C |
T |
5: 102,011,983 (GRCm39) |
S2668N |
probably benign |
Het |
Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
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 |
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 |
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'- GTAACTTGTACAGACACCAATACCG -3'
(R):5'- TAGAAGTCCAGCTTTGGCAG -3'
Sequencing Primer
(F):5'- TTGTACAGACACCAATACCGAAACAG -3'
(R):5'- AGGTGATGGTAGCTGTCA -3'
|
Posted On |
2021-10-11 |