Incidental Mutation 'R9643:Wdr72'
ID |
726666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr72
|
Ensembl Gene |
ENSMUSG00000044976 |
Gene Name |
WD repeat domain 72 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R9643 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
74017608-74190485 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 74118041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 930
(P930S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057320
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055879]
[ENSMUST00000215440]
|
AlphaFold |
D3YYM4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055879
AA Change: P930S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057320 Gene: ENSMUSG00000044976 AA Change: P930S
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: P918S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,211,189 (GRCm39) |
D641G |
possibly damaging |
Het |
4921539E11Rik |
T |
C |
4: 103,092,666 (GRCm39) |
E272G |
unknown |
Het |
Abca16 |
C |
T |
7: 120,065,023 (GRCm39) |
T560I |
possibly damaging |
Het |
Adcy3 |
A |
G |
12: 4,259,455 (GRCm39) |
R911G |
probably damaging |
Het |
Adgra2 |
A |
G |
8: 27,612,031 (GRCm39) |
T1327A |
possibly damaging |
Het |
Aldh9a1 |
T |
C |
1: 167,184,904 (GRCm39) |
V272A |
possibly damaging |
Het |
Ankfn1 |
T |
A |
11: 89,396,167 (GRCm39) |
H193L |
probably benign |
Het |
Asb1 |
A |
G |
1: 91,480,116 (GRCm39) |
R280G |
probably benign |
Het |
Atg14 |
G |
T |
14: 47,788,780 (GRCm39) |
A191E |
probably damaging |
Het |
Bcl9 |
G |
T |
3: 97,112,960 (GRCm39) |
P1165Q |
possibly damaging |
Het |
Cdk8 |
G |
A |
5: 146,235,664 (GRCm39) |
A264T |
probably damaging |
Het |
Cep152 |
G |
A |
2: 125,406,150 (GRCm39) |
Q1461* |
probably null |
Het |
Cep170b |
G |
T |
12: 112,704,045 (GRCm39) |
W659L |
probably damaging |
Het |
Cep57l1 |
T |
C |
10: 41,597,626 (GRCm39) |
E335G |
probably damaging |
Het |
Cpt1b |
T |
A |
15: 89,303,229 (GRCm39) |
T609S |
possibly damaging |
Het |
Cyp2c50 |
A |
T |
19: 40,086,512 (GRCm39) |
I359F |
probably damaging |
Het |
Dpf1 |
T |
A |
7: 29,013,742 (GRCm39) |
N272K |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,821,984 (GRCm39) |
T5906A |
possibly damaging |
Het |
Gin1 |
A |
T |
1: 97,712,498 (GRCm39) |
R220S |
probably benign |
Het |
Gm30083 |
T |
C |
14: 33,736,861 (GRCm39) |
Y32C |
probably benign |
Het |
Gm45861 |
A |
G |
8: 27,994,083 (GRCm39) |
E445G |
unknown |
Het |
Golga2 |
T |
C |
2: 32,193,874 (GRCm39) |
S567P |
probably damaging |
Het |
Gpr89 |
A |
G |
3: 96,780,813 (GRCm39) |
V353A |
probably damaging |
Het |
Grin2d |
T |
C |
7: 45,506,948 (GRCm39) |
K509R |
possibly damaging |
Het |
Hip1r |
T |
C |
5: 124,139,319 (GRCm39) |
I904T |
probably damaging |
Het |
Ikbke |
T |
A |
1: 131,187,022 (GRCm39) |
|
probably null |
Het |
Il1r1 |
T |
A |
1: 40,341,532 (GRCm39) |
C315S |
probably damaging |
Het |
Ireb2 |
T |
A |
9: 54,789,730 (GRCm39) |
F135I |
possibly damaging |
Het |
Jakmip3 |
C |
T |
7: 138,621,915 (GRCm39) |
L272F |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,949,440 (GRCm39) |
F1937Y |
probably damaging |
Het |
Krtap4-16 |
G |
A |
11: 99,742,271 (GRCm39) |
T43I |
unknown |
Het |
Lats2 |
A |
G |
14: 57,936,875 (GRCm39) |
V538A |
possibly damaging |
Het |
Megf8 |
T |
A |
7: 25,046,907 (GRCm39) |
W1597R |
probably damaging |
Het |
Mideas |
A |
T |
12: 84,219,885 (GRCm39) |
D356E |
probably benign |
Het |
Mtus2 |
A |
T |
5: 148,014,025 (GRCm39) |
T273S |
probably benign |
Het |
Nsun6 |
T |
A |
2: 15,047,106 (GRCm39) |
E81D |
probably benign |
Het |
Or13c7 |
G |
A |
4: 43,855,183 (GRCm39) |
M291I |
probably benign |
Het |
Or4c125 |
A |
T |
2: 89,170,517 (GRCm39) |
I43K |
probably damaging |
Het |
Or56a41 |
A |
G |
7: 104,740,445 (GRCm39) |
F134L |
probably benign |
Het |
Or8c10 |
A |
G |
9: 38,278,912 (GRCm39) |
I13M |
probably damaging |
Het |
Or8k23 |
A |
G |
2: 86,186,408 (GRCm39) |
F106S |
probably benign |
Het |
Oxsm |
T |
C |
14: 16,241,000 (GRCm38) |
T350A |
probably damaging |
Het |
Pard3 |
G |
A |
8: 128,115,900 (GRCm39) |
R663Q |
possibly damaging |
Het |
Pcdh15 |
T |
A |
10: 74,479,335 (GRCm39) |
I482N |
probably benign |
Het |
Pcsk2 |
G |
A |
2: 143,655,501 (GRCm39) |
D562N |
probably damaging |
Het |
Pdzk1ip1 |
T |
C |
4: 114,950,177 (GRCm39) |
M146T |
probably benign |
Het |
Plch1 |
T |
A |
3: 63,660,747 (GRCm39) |
T279S |
|
Het |
Plec |
C |
T |
15: 76,058,177 (GRCm39) |
R3920Q |
probably damaging |
Het |
Polr2g |
A |
T |
19: 8,774,631 (GRCm39) |
V84E |
probably damaging |
Het |
Ppm1m |
C |
T |
9: 106,075,104 (GRCm39) |
R147H |
probably damaging |
Het |
Ppp2r2c |
G |
T |
5: 37,080,383 (GRCm39) |
V48L |
probably damaging |
Het |
Pramel25 |
T |
A |
4: 143,521,855 (GRCm39) |
C490* |
probably null |
Het |
Prcp |
A |
T |
7: 92,524,598 (GRCm39) |
T18S |
probably benign |
Het |
Rapsn |
A |
G |
2: 90,872,268 (GRCm39) |
S201G |
probably damaging |
Het |
Rragd |
A |
G |
4: 33,012,998 (GRCm39) |
T332A |
probably benign |
Het |
Scrn2 |
A |
G |
11: 96,921,342 (GRCm39) |
D34G |
probably damaging |
Het |
Serpinb6c |
T |
C |
13: 34,079,303 (GRCm39) |
T130A |
probably benign |
Het |
Setd1b |
G |
A |
5: 123,298,401 (GRCm39) |
G1479D |
probably damaging |
Het |
Shd |
T |
A |
17: 56,283,268 (GRCm39) |
L299Q |
probably damaging |
Het |
Slc5a4b |
C |
T |
10: 75,945,896 (GRCm39) |
V55I |
probably benign |
Het |
Smg1 |
C |
A |
7: 117,755,933 (GRCm39) |
R2405L |
unknown |
Het |
Stxbp2 |
A |
T |
8: 3,686,392 (GRCm39) |
M332L |
|
Het |
Tedc2 |
A |
G |
17: 24,435,328 (GRCm39) |
C354R |
probably benign |
Het |
Tek |
A |
T |
4: 94,692,523 (GRCm39) |
R210S |
possibly damaging |
Het |
Tnk2 |
T |
A |
16: 32,489,018 (GRCm39) |
M286K |
probably damaging |
Het |
Ttc21a |
G |
A |
9: 119,771,686 (GRCm39) |
V162I |
probably benign |
Het |
Usf3 |
T |
A |
16: 44,042,170 (GRCm39) |
C2217S |
possibly damaging |
Het |
Zan |
A |
G |
5: 137,456,812 (GRCm39) |
V1308A |
unknown |
Het |
Zfp521 |
C |
T |
18: 13,978,922 (GRCm39) |
R497Q |
probably damaging |
Het |
Zfp799 |
T |
A |
17: 33,039,435 (GRCm39) |
K277M |
probably damaging |
Het |
Zfp949 |
C |
T |
9: 88,436,500 (GRCm39) |
|
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 |
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 |
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'- CTGTGCTCCAGAAAAGTTTTGG -3'
(R):5'- GCAGGACATGAGGACATTTCC -3'
Sequencing Primer
(F):5'- TGGACTTGTCAAGTAAATACACAGCC -3'
(R):5'- GGACATGAGGACATTTCCCTAAC -3'
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Posted On |
2022-10-06 |