Incidental Mutation 'R5027:Wdr72'
| ID |
391441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr72
|
| Ensembl Gene |
ENSMUSG00000044976 |
| Gene Name |
WD repeat domain 72 |
| Synonyms |
|
| MMRRC Submission |
042618-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R5027 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
74017608-74190485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74053258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 187
(W187R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055879]
[ENSMUST00000215440]
|
| AlphaFold |
D3YYM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055879
AA Change: W187R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: W187R
| 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 |
noncoding transcript
Transcript: ENSMUST00000098564
|
| SMART Domains |
Protein: ENSMUSP00000096163
Gene: ENSMUSG00000044976
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
45 |
1.24e0 |
SMART |
|
WD40
|
51 |
97 |
4.11e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215440
AA Change: W187R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8149 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
| Validation Efficiency |
97% (97/100) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
G |
7: 119,911,505 (GRCm39) |
I1363R |
probably benign |
Het |
| Abcc1 |
T |
C |
16: 14,221,917 (GRCm39) |
|
probably null |
Het |
| Adgrf1 |
T |
A |
17: 43,614,638 (GRCm39) |
F241I |
probably damaging |
Het |
| Afg3l1 |
T |
C |
8: 124,216,553 (GRCm39) |
M264T |
probably benign |
Het |
| Ankle1 |
T |
C |
8: 71,861,623 (GRCm39) |
S434P |
probably damaging |
Het |
| Apoe |
C |
T |
7: 19,430,940 (GRCm39) |
A101T |
probably damaging |
Het |
| Apol11a |
G |
T |
15: 77,401,153 (GRCm39) |
K213N |
probably damaging |
Het |
| Asap2 |
A |
G |
12: 21,254,082 (GRCm39) |
M198V |
probably damaging |
Het |
| Atg4b |
C |
T |
1: 93,714,297 (GRCm39) |
A360V |
probably benign |
Het |
| B3gnt5 |
T |
A |
16: 19,588,444 (GRCm39) |
V221D |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,928,988 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
C |
A |
1: 155,809,100 (GRCm39) |
W492L |
probably benign |
Het |
| Cln6 |
A |
G |
9: 62,754,375 (GRCm39) |
Y139C |
probably damaging |
Het |
| Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
| Cul9 |
C |
T |
17: 46,811,708 (GRCm39) |
E2507K |
probably damaging |
Het |
| Dgkz |
A |
T |
2: 91,775,888 (GRCm39) |
V125D |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,993,365 (GRCm39) |
M1127V |
probably benign |
Het |
| Dnajb1 |
C |
A |
8: 84,336,732 (GRCm39) |
D67E |
probably benign |
Het |
| Dync1li1 |
A |
G |
9: 114,542,612 (GRCm39) |
D258G |
probably damaging |
Het |
| Egflam |
G |
T |
15: 7,283,125 (GRCm39) |
P311T |
probably benign |
Het |
| Fbxw11 |
T |
A |
11: 32,602,811 (GRCm39) |
|
probably benign |
Het |
| Fn3krp |
T |
G |
11: 121,320,274 (GRCm39) |
D206E |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,819,477 (GRCm39) |
H5070R |
possibly damaging |
Het |
| Gm6605 |
T |
C |
7: 38,149,683 (GRCm39) |
|
noncoding transcript |
Het |
| Gna14 |
C |
A |
19: 16,580,636 (GRCm39) |
T158K |
probably benign |
Het |
| Gstt2 |
A |
T |
10: 75,667,726 (GRCm39) |
I243N |
probably damaging |
Het |
| Haus6 |
C |
T |
4: 86,523,933 (GRCm39) |
D50N |
possibly damaging |
Het |
| Hcrtr2 |
A |
G |
9: 76,230,578 (GRCm39) |
I70T |
probably benign |
Het |
| Herc1 |
G |
A |
9: 66,380,811 (GRCm39) |
V3563I |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,411,900 (GRCm39) |
I4707F |
probably damaging |
Het |
| Hic2 |
C |
T |
16: 17,076,611 (GRCm39) |
A480V |
possibly damaging |
Het |
| Hsd17b3 |
A |
G |
13: 64,210,720 (GRCm39) |
Y212H |
probably damaging |
Het |
| Hspa5 |
A |
G |
2: 34,665,827 (GRCm39) |
K557R |
probably damaging |
Het |
| Iqch |
T |
C |
9: 63,432,294 (GRCm39) |
E367G |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lars2 |
A |
G |
9: 123,270,560 (GRCm39) |
M551V |
probably benign |
Het |
| Lbp |
T |
C |
2: 158,150,646 (GRCm39) |
I57T |
possibly damaging |
Het |
| Liat1 |
A |
G |
11: 75,891,047 (GRCm39) |
K54E |
probably damaging |
Het |
| Litaf |
T |
C |
16: 10,778,868 (GRCm39) |
Q142R |
possibly damaging |
Het |
| Lpar5 |
G |
C |
6: 125,059,110 (GRCm39) |
R277P |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,216,349 (GRCm39) |
I2710F |
probably benign |
Het |
| Myo7b |
T |
A |
18: 32,108,265 (GRCm39) |
I1199F |
probably benign |
Het |
| Naca |
A |
C |
10: 127,883,990 (GRCm39) |
E2140D |
possibly damaging |
Het |
| Nup214 |
G |
T |
2: 31,881,329 (GRCm39) |
G396C |
probably damaging |
Het |
| Or2v1 |
A |
T |
11: 49,025,451 (GRCm39) |
Q144L |
probably benign |
Het |
| Or5aq7 |
T |
A |
2: 86,938,150 (GRCm39) |
I194F |
probably benign |
Het |
| Or5j3 |
G |
A |
2: 86,128,540 (GRCm39) |
V127I |
possibly damaging |
Het |
| Or7g33 |
A |
G |
9: 19,448,573 (GRCm39) |
Y218H |
probably damaging |
Het |
| Or8b57 |
A |
T |
9: 40,003,690 (GRCm39) |
S187T |
probably damaging |
Het |
| P4htm |
A |
G |
9: 108,456,492 (GRCm39) |
V436A |
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,017,307 (GRCm39) |
I117V |
possibly damaging |
Het |
| Phlpp1 |
T |
G |
1: 106,209,201 (GRCm39) |
V518G |
probably damaging |
Het |
| Piwil4 |
G |
A |
9: 14,621,240 (GRCm39) |
L598F |
probably damaging |
Het |
| Polr1b |
T |
G |
2: 128,965,803 (GRCm39) |
I815R |
possibly damaging |
Het |
| Ppef2 |
T |
C |
5: 92,382,150 (GRCm39) |
N515S |
probably damaging |
Het |
| Prp2rt |
A |
G |
13: 97,235,648 (GRCm39) |
I33T |
probably benign |
Het |
| Prpsap2 |
G |
T |
11: 61,631,830 (GRCm39) |
|
probably null |
Het |
| Rab27a |
A |
G |
9: 73,002,695 (GRCm39) |
D208G |
probably benign |
Het |
| Ralgds |
A |
G |
2: 28,442,102 (GRCm39) |
|
probably null |
Het |
| Raph1 |
C |
A |
1: 60,535,436 (GRCm39) |
C540F |
probably damaging |
Het |
| Rbsn |
A |
G |
6: 92,175,231 (GRCm39) |
L281P |
probably damaging |
Het |
| Rigi |
T |
A |
4: 40,208,845 (GRCm39) |
M756L |
probably benign |
Het |
| Rmdn1 |
G |
T |
4: 19,588,533 (GRCm39) |
G110* |
probably null |
Het |
| Rph3a |
T |
A |
5: 121,092,512 (GRCm39) |
E363V |
possibly damaging |
Het |
| Serpina16 |
G |
T |
12: 103,641,262 (GRCm39) |
Y154* |
probably null |
Het |
| Sh2d3c |
G |
A |
2: 32,634,814 (GRCm39) |
E198K |
possibly damaging |
Het |
| Shank2 |
C |
A |
7: 143,812,842 (GRCm39) |
Y663* |
probably null |
Het |
| Sharpin |
T |
C |
15: 76,234,225 (GRCm39) |
|
probably benign |
Het |
| Slitrk1 |
G |
A |
14: 109,149,740 (GRCm39) |
P324S |
probably benign |
Het |
| Sorbs2 |
T |
A |
8: 46,199,571 (GRCm39) |
|
probably null |
Het |
| Spag16 |
C |
T |
1: 69,962,963 (GRCm39) |
|
probably benign |
Het |
| Sycp2l |
A |
T |
13: 41,283,247 (GRCm39) |
|
probably null |
Het |
| Synj1 |
A |
T |
16: 90,737,407 (GRCm39) |
|
probably null |
Het |
| Sytl1 |
T |
C |
4: 132,983,530 (GRCm39) |
|
probably benign |
Het |
| Tkfc |
A |
T |
19: 10,570,023 (GRCm39) |
|
probably null |
Het |
| Tnn |
T |
C |
1: 159,972,781 (GRCm39) |
T274A |
probably damaging |
Het |
| Trav14-2 |
T |
A |
14: 53,878,505 (GRCm39) |
W35R |
probably damaging |
Het |
| Trim72 |
T |
C |
7: 127,607,137 (GRCm39) |
M222T |
probably damaging |
Het |
| Trim9 |
A |
G |
12: 70,393,482 (GRCm39) |
V154A |
probably damaging |
Het |
| Ttc7b |
T |
C |
12: 100,268,001 (GRCm39) |
Y266C |
probably damaging |
Het |
| Uchl3 |
T |
A |
14: 101,903,982 (GRCm39) |
I43K |
possibly damaging |
Het |
| Vdac1 |
T |
A |
11: 52,279,305 (GRCm39) |
N269K |
possibly damaging |
Het |
| Zfp30 |
T |
A |
7: 29,492,491 (GRCm39) |
C248* |
probably null |
Het |
| Zfp940 |
A |
T |
7: 29,550,381 (GRCm39) |
|
probably benign |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
|
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'- ACACACATAGGGTAGAACCTGG -3'
(R):5'- CGGTTGGAAGGATGCAATTCAG -3'
Sequencing Primer
(F):5'- GGTAGAACCTGGAATGGAATCATTC -3'
(R):5'- ATGCAATTCAGATGCCTCGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation