Incidental Mutation 'R6857:Wdr72'
| ID |
535323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr72
|
| Ensembl Gene |
ENSMUSG00000044976 |
| Gene Name |
WD repeat domain 72 |
| Synonyms |
|
| MMRRC Submission |
044959-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R6857 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
74017608-74190485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 74062323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 490
(V490L)
|
| 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: V502L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: V502L
| 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: V490L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1758 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,110,514 (GRCm39) |
L545P |
possibly damaging |
Het |
| Adam4 |
T |
C |
12: 81,466,723 (GRCm39) |
T633A |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 9,014,532 (GRCm39) |
Q119* |
probably null |
Het |
| Anxa10 |
C |
A |
8: 62,514,051 (GRCm39) |
A239S |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,729,018 (GRCm39) |
H175L |
probably benign |
Het |
| Best2 |
A |
G |
8: 85,734,452 (GRCm39) |
V422A |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,759,309 (GRCm39) |
F298S |
possibly damaging |
Het |
| Cd38 |
T |
A |
5: 44,063,540 (GRCm39) |
M211K |
probably damaging |
Het |
| Cd3d |
T |
G |
9: 44,896,902 (GRCm39) |
M92R |
probably damaging |
Het |
| Cdk5rap2 |
C |
A |
4: 70,163,633 (GRCm39) |
E1474* |
probably null |
Het |
| Clvs1 |
A |
G |
4: 9,449,433 (GRCm39) |
K341E |
probably benign |
Het |
| Copg2 |
G |
T |
6: 30,840,533 (GRCm39) |
D112E |
possibly damaging |
Het |
| Cspg4b |
A |
T |
13: 113,456,492 (GRCm39) |
N846I |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 49,997,902 (GRCm39) |
N697Y |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,624,981 (GRCm39) |
S3803P |
possibly damaging |
Het |
| Ecpas |
T |
A |
4: 58,814,065 (GRCm39) |
D1347V |
probably damaging |
Het |
| Epx |
T |
A |
11: 87,760,781 (GRCm39) |
K384* |
probably null |
Het |
| Fam135a |
G |
C |
1: 24,053,870 (GRCm39) |
D1222E |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,991,002 (GRCm39) |
H898L |
unknown |
Het |
| Gapvd1 |
A |
G |
2: 34,618,389 (GRCm39) |
I190T |
probably damaging |
Het |
| Hax1 |
T |
G |
3: 89,904,759 (GRCm39) |
S122R |
probably damaging |
Het |
| Hdac9 |
T |
G |
12: 34,443,362 (GRCm39) |
M272L |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,131,900 (GRCm39) |
S228G |
probably damaging |
Het |
| Itpr2 |
C |
A |
6: 146,298,517 (GRCm39) |
E315* |
probably null |
Het |
| Kctd8 |
T |
C |
5: 69,454,045 (GRCm39) |
N331D |
probably benign |
Het |
| Ky |
G |
A |
9: 102,419,631 (GRCm39) |
G546E |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,821,023 (GRCm39) |
|
probably null |
Het |
| Mtmr12 |
T |
A |
15: 12,263,918 (GRCm39) |
W427R |
probably damaging |
Het |
| Mxra8 |
A |
G |
4: 155,927,593 (GRCm39) |
K434E |
possibly damaging |
Het |
| Myh4 |
T |
C |
11: 67,140,711 (GRCm39) |
C676R |
possibly damaging |
Het |
| Nek7 |
C |
T |
1: 138,443,420 (GRCm39) |
G178R |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,831 (GRCm39) |
C169S |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,518,307 (GRCm39) |
L182P |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,608 (GRCm39) |
L188H |
probably damaging |
Het |
| Paqr5 |
G |
T |
9: 61,883,370 (GRCm39) |
H41N |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,606,920 (GRCm39) |
L405P |
probably damaging |
Het |
| Plpbp |
A |
G |
8: 27,535,454 (GRCm39) |
N79S |
possibly damaging |
Het |
| Plxnd1 |
G |
T |
6: 115,970,724 (GRCm39) |
A348E |
probably benign |
Het |
| Prdm9 |
T |
C |
17: 15,764,518 (GRCm39) |
Q754R |
probably benign |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rgs12 |
A |
T |
5: 35,187,366 (GRCm39) |
K213* |
probably null |
Het |
| Serpina3m |
T |
C |
12: 104,355,585 (GRCm39) |
L84P |
probably damaging |
Het |
| Tab2 |
T |
C |
10: 7,796,177 (GRCm39) |
T102A |
possibly damaging |
Het |
| Tagln3 |
G |
T |
16: 45,544,599 (GRCm39) |
A24E |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,801,114 (GRCm39) |
E1110G |
possibly damaging |
Het |
| Tcf3 |
T |
C |
10: 80,252,733 (GRCm39) |
|
probably null |
Het |
| Tmem14a |
T |
C |
1: 21,299,769 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,748,275 (GRCm39) |
E4258V |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,213,362 (GRCm39) |
D5104N |
possibly damaging |
Het |
| Ugt2b37 |
C |
G |
5: 87,388,705 (GRCm39) |
A503P |
probably damaging |
Het |
| Unc45b |
A |
G |
11: 82,804,038 (GRCm39) |
I72V |
probably benign |
Het |
| Vmn1r88 |
A |
T |
7: 12,912,258 (GRCm39) |
M205L |
possibly damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,760,932 (GRCm39) |
M808I |
probably benign |
Het |
| Zfp1004 |
G |
T |
2: 150,033,982 (GRCm39) |
C132F |
probably damaging |
Het |
| Zfp998 |
A |
T |
13: 66,580,161 (GRCm39) |
H107Q |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,375,096 (GRCm39) |
V785E |
probably damaging |
Het |
| Zswim7 |
A |
T |
11: 62,171,955 (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 |
|
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'- ATAATCTTCTCGGCCAGCTG -3'
(R):5'- GGCCGACAATGTGAGTATTTG -3'
Sequencing Primer
(F):5'- CCAGCTGGGTCTATGTTAAAAATGC -3'
(R):5'- TTGATTACTTCTGGGAACACAGGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation