Incidental Mutation 'R4596:Wdr72'
ID |
344395 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr72
|
Ensembl Gene |
ENSMUSG00000044976 |
Gene Name |
WD repeat domain 72 |
Synonyms |
|
MMRRC Submission |
041812-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R4596 (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 74058887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 327
(M327L)
|
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: M339L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000057320 Gene: ENSMUSG00000044976 AA Change: M339L
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: M327L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
C |
9: 57,165,088 (GRCm39) |
K429E |
probably benign |
Het |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Adad1 |
T |
C |
3: 37,119,341 (GRCm39) |
S141P |
probably damaging |
Het |
Anapc4 |
T |
C |
5: 52,999,060 (GRCm39) |
V124A |
probably benign |
Het |
Anxa6 |
G |
T |
11: 54,885,409 (GRCm39) |
|
probably null |
Het |
Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
Arhgef40 |
T |
C |
14: 52,224,681 (GRCm39) |
|
probably null |
Het |
Asz1 |
A |
T |
6: 18,103,592 (GRCm39) |
I116K |
possibly damaging |
Het |
Bcam |
T |
C |
7: 19,498,082 (GRCm39) |
N314D |
probably damaging |
Het |
Cfi |
T |
C |
3: 129,662,149 (GRCm39) |
V376A |
probably damaging |
Het |
Cipc |
A |
G |
12: 87,008,728 (GRCm39) |
T196A |
probably benign |
Het |
Cnksr1 |
A |
G |
4: 133,961,189 (GRCm39) |
V225A |
possibly damaging |
Het |
Col4a4 |
G |
A |
1: 82,448,940 (GRCm39) |
P1217S |
unknown |
Het |
Dync2h1 |
C |
T |
9: 6,992,595 (GRCm39) |
D3996N |
probably benign |
Het |
Fasl |
T |
C |
1: 161,615,838 (GRCm39) |
N6S |
probably benign |
Het |
Fhod3 |
A |
T |
18: 25,248,775 (GRCm39) |
Q1318L |
probably benign |
Het |
Gmps |
G |
T |
3: 63,901,338 (GRCm39) |
E386* |
probably null |
Het |
Hspa13 |
C |
T |
16: 75,555,114 (GRCm39) |
G324D |
probably benign |
Het |
Ift80 |
A |
G |
3: 68,898,092 (GRCm39) |
V81A |
probably benign |
Het |
Itgb1bp1 |
C |
A |
12: 21,322,135 (GRCm39) |
L101F |
probably damaging |
Het |
Jak3 |
T |
A |
8: 72,137,275 (GRCm39) |
S779T |
probably damaging |
Het |
Klhl21 |
G |
T |
4: 152,096,997 (GRCm39) |
R421L |
probably benign |
Het |
Mgat4c |
T |
C |
10: 102,224,422 (GRCm39) |
F212S |
probably damaging |
Het |
Msl3l2 |
T |
A |
10: 55,991,741 (GRCm39) |
F155L |
probably benign |
Het |
Nfat5 |
A |
G |
8: 108,078,132 (GRCm39) |
K406E |
possibly damaging |
Het |
Nsd2 |
A |
T |
5: 34,040,262 (GRCm39) |
H933L |
probably damaging |
Het |
Or4c31 |
A |
G |
2: 88,292,538 (GRCm39) |
T304A |
probably benign |
Het |
Or51h5 |
A |
G |
7: 102,577,458 (GRCm39) |
T208A |
possibly damaging |
Het |
Or6f1 |
A |
T |
7: 85,970,631 (GRCm39) |
H176Q |
probably damaging |
Het |
Or9q2 |
G |
A |
19: 13,772,264 (GRCm39) |
T237I |
probably damaging |
Het |
Paxbp1 |
T |
C |
16: 90,827,435 (GRCm39) |
I467V |
probably benign |
Het |
Pcdha8 |
A |
C |
18: 37,126,611 (GRCm39) |
Q364H |
possibly damaging |
Het |
Prr14l |
T |
C |
5: 32,986,652 (GRCm39) |
T948A |
probably benign |
Het |
Ptgfr |
A |
T |
3: 151,507,430 (GRCm39) |
V311D |
probably damaging |
Het |
Ptpn13 |
A |
G |
5: 103,671,558 (GRCm39) |
Y495C |
probably benign |
Het |
Sec61g |
A |
T |
11: 16,458,127 (GRCm39) |
S23T |
probably benign |
Het |
Sema3a |
G |
T |
5: 13,620,125 (GRCm39) |
V458F |
probably damaging |
Het |
Slc16a14 |
T |
A |
1: 84,907,078 (GRCm39) |
E65D |
probably damaging |
Het |
Slc35f6 |
T |
C |
5: 30,805,406 (GRCm39) |
M14T |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,127,202 (GRCm39) |
I882F |
probably damaging |
Het |
Sox17 |
C |
A |
1: 4,562,860 (GRCm39) |
E48D |
possibly damaging |
Het |
Thbs1 |
A |
T |
2: 117,945,236 (GRCm39) |
I270F |
possibly damaging |
Het |
Tia1 |
A |
G |
6: 86,397,389 (GRCm39) |
I121V |
probably benign |
Het |
Trim30d |
A |
T |
7: 104,121,733 (GRCm39) |
H337Q |
probably benign |
Het |
Tvp23b |
G |
A |
11: 62,774,544 (GRCm39) |
A63T |
probably benign |
Het |
U2surp |
C |
T |
9: 95,367,681 (GRCm39) |
V437I |
probably damaging |
Het |
Ube2i |
T |
C |
17: 25,484,298 (GRCm39) |
|
probably benign |
Het |
Vmn1r62 |
A |
G |
7: 5,678,306 (GRCm39) |
|
probably benign |
Het |
Wdr3 |
G |
A |
3: 100,060,183 (GRCm39) |
S310F |
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 |
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'- TCTGGAGCTTAGTCCATGATCTC -3'
(R):5'- GTGTCTGTACAAGTTACTTCTCAG -3'
Sequencing Primer
(F):5'- GAGCTTAGTCCATGATCTCATTTTG -3'
(R):5'- AGACACCAATGGCTTCTGTG -3'
|
Posted On |
2015-09-25 |