Incidental Mutation 'R8142:Wdr72'
| ID |
632590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr72
|
| Ensembl Gene |
ENSMUSG00000044976 |
| Gene Name |
WD repeat domain 72 |
| Synonyms |
|
| MMRRC Submission |
067570-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R8142 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
74017608-74190485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 74046949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 65
(V65G)
|
| 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: V65G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: V65G
| 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: V65G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 91.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v1e2 |
A |
T |
17: 87,252,083 (GRCm39) |
I105N |
possibly damaging |
Het |
| Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,909,465 (GRCm39) |
S980P |
probably damaging |
Het |
| Ccno |
T |
G |
13: 113,125,489 (GRCm39) |
L151R |
probably damaging |
Het |
| Cdh2 |
A |
C |
18: 16,734,791 (GRCm39) |
I801S |
probably benign |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Dab1 |
T |
A |
4: 104,535,921 (GRCm39) |
V110D |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,660,189 (GRCm39) |
T828A |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,384,519 (GRCm39) |
V3088L |
probably benign |
Het |
| Dtd2 |
T |
A |
12: 52,046,593 (GRCm39) |
D82V |
probably damaging |
Het |
| Dusp5 |
T |
C |
19: 53,525,912 (GRCm39) |
F185L |
probably damaging |
Het |
| Epha10 |
A |
G |
4: 124,779,639 (GRCm39) |
T162A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,945,352 (GRCm39) |
D1415V |
probably damaging |
Het |
| Fitm1 |
T |
C |
14: 55,813,247 (GRCm39) |
Y37H |
possibly damaging |
Het |
| Flg2 |
G |
T |
3: 93,122,782 (GRCm39) |
E1651* |
probably null |
Het |
| Ifit3 |
G |
T |
19: 34,564,901 (GRCm39) |
C149F |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,622,616 (GRCm39) |
H465Q |
possibly damaging |
Het |
| Ltn1 |
A |
C |
16: 87,178,529 (GRCm39) |
S1567A |
probably benign |
Het |
| Marchf1 |
T |
C |
8: 66,908,778 (GRCm39) |
V166A |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,737,448 (GRCm39) |
H424R |
possibly damaging |
Het |
| Mypop |
A |
G |
7: 18,735,051 (GRCm39) |
T383A |
unknown |
Het |
| Ngef |
G |
C |
1: 87,468,463 (GRCm39) |
R99G |
probably benign |
Het |
| Nherf4 |
A |
G |
9: 44,162,078 (GRCm39) |
|
probably null |
Het |
| Npepps |
G |
T |
11: 97,109,398 (GRCm39) |
A726D |
probably damaging |
Het |
| Or6c63-ps1 |
T |
A |
10: 128,900,519 (GRCm39) |
D9V |
probably benign |
Het |
| Pcdhgb4 |
A |
G |
18: 37,854,166 (GRCm39) |
D187G |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,349,269 (GRCm39) |
E1034G |
possibly damaging |
Het |
| Pira1 |
A |
G |
7: 3,739,842 (GRCm39) |
S418P |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,378,327 (GRCm39) |
R1027H |
probably benign |
Het |
| Pon2 |
A |
T |
6: 5,266,239 (GRCm39) |
V260D |
probably benign |
Het |
| Rnase13 |
A |
G |
14: 52,159,893 (GRCm39) |
I82T |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,546,608 (GRCm39) |
S194P |
probably benign |
Het |
| Serpinb6c |
T |
A |
13: 34,064,096 (GRCm39) |
I320L |
probably benign |
Het |
| Sh3rf3 |
C |
T |
10: 58,885,205 (GRCm39) |
R363* |
probably null |
Het |
| Slc11a1 |
T |
C |
1: 74,424,418 (GRCm39) |
F500L |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,257,890 (GRCm39) |
|
probably null |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,219,958 (GRCm39) |
N362S |
possibly damaging |
Het |
| Stau2 |
A |
G |
1: 16,530,575 (GRCm39) |
S115P |
unknown |
Het |
| Stk38l |
A |
G |
6: 146,660,070 (GRCm39) |
N34S |
probably benign |
Het |
| Tmem201 |
T |
C |
4: 149,803,114 (GRCm39) |
T585A |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,744,258 (GRCm39) |
I1297F |
possibly damaging |
Het |
| Uncx |
A |
G |
5: 139,532,655 (GRCm39) |
D240G |
possibly damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,564 (GRCm39) |
I293V |
|
Het |
| Vps11 |
T |
C |
9: 44,265,852 (GRCm39) |
T476A |
probably benign |
Het |
| Vrtn |
T |
C |
12: 84,697,395 (GRCm39) |
L715P |
probably damaging |
Het |
| Zbtb21 |
T |
C |
16: 97,752,675 (GRCm39) |
E536G |
probably damaging |
Het |
| Zbtb34 |
G |
T |
2: 33,302,493 (GRCm39) |
S16* |
probably null |
Het |
| Zfhx2 |
G |
A |
14: 55,310,895 (GRCm39) |
L600F |
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 |
|
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'- CAGCTTACCTGAAACTTGTGCAC -3'
(R):5'- TGCTGGGATTCTAACACAGG -3'
Sequencing Primer
(F):5'- CTTGTGCACATAAAACCTCTTAGC -3'
(R):5'- TGCTGGGATTCTAACACAGGAAATC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation