Incidental Mutation 'R7104:Wdr72'
| ID |
551061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr72
|
| Ensembl Gene |
ENSMUSG00000044976 |
| Gene Name |
WD repeat domain 72 |
| Synonyms |
|
| MMRRC Submission |
045196-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R7104 (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 A
at 74055597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 275
(D275E)
|
| 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: D275E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: D275E
| 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: D275E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl2 |
A |
G |
2: 90,627,891 (GRCm39) |
E232G |
probably damaging |
Het |
| Atf7 |
A |
G |
15: 102,442,670 (GRCm39) |
S480P |
probably benign |
Het |
| Cdk14 |
A |
G |
5: 5,245,325 (GRCm39) |
I166T |
possibly damaging |
Het |
| Cdk5rap2 |
G |
T |
4: 70,267,393 (GRCm39) |
F358L |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,223,928 (GRCm39) |
L897P |
possibly damaging |
Het |
| Cytip |
A |
G |
2: 58,049,986 (GRCm39) |
S28P |
probably benign |
Het |
| Dennd5b |
C |
T |
6: 148,946,102 (GRCm39) |
R503Q |
probably damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,171,159 (GRCm39) |
C480S |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,785,711 (GRCm39) |
D189G |
probably damaging |
Het |
| Engase |
G |
A |
11: 118,372,121 (GRCm39) |
V138M |
probably damaging |
Het |
| Esyt3 |
C |
A |
9: 99,220,840 (GRCm39) |
R121L |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,858,918 (GRCm39) |
I1516L |
probably benign |
Het |
| Gatad2b |
T |
A |
3: 90,258,724 (GRCm39) |
I249N |
probably damaging |
Het |
| Grk6 |
T |
C |
13: 55,602,219 (GRCm39) |
S383P |
probably benign |
Het |
| Hectd1 |
C |
T |
12: 51,874,134 (GRCm39) |
|
probably null |
Het |
| Hipk2 |
A |
G |
6: 38,795,579 (GRCm39) |
L230P |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,310,814 (GRCm39) |
Q1018L |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,797,550 (GRCm39) |
F927S |
probably benign |
Het |
| Itgb3bp |
A |
G |
4: 99,702,335 (GRCm39) |
V3A |
probably damaging |
Het |
| Kcnh7 |
G |
T |
2: 62,618,031 (GRCm39) |
A486D |
possibly damaging |
Het |
| Krt1c |
T |
C |
15: 101,723,522 (GRCm39) |
T318A |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,818,377 (GRCm39) |
F77S |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,068,708 (GRCm39) |
L203* |
probably null |
Het |
| Nos1 |
T |
A |
5: 118,085,496 (GRCm39) |
C1275S |
probably damaging |
Het |
| Or14a256 |
T |
C |
7: 86,264,900 (GRCm39) |
S318G |
probably null |
Het |
| Or4a69 |
A |
G |
2: 89,313,458 (GRCm39) |
V7A |
possibly damaging |
Het |
| Or5an9 |
T |
C |
19: 12,187,242 (GRCm39) |
I104T |
possibly damaging |
Het |
| Or5d39 |
T |
C |
2: 87,979,716 (GRCm39) |
T216A |
possibly damaging |
Het |
| Or5j3 |
T |
A |
2: 86,128,564 (GRCm39) |
S135T |
probably benign |
Het |
| Or8b12b |
A |
T |
9: 37,684,437 (GRCm39) |
N161Y |
possibly damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,623,542 (GRCm39) |
M67V |
possibly damaging |
Het |
| Polq |
C |
A |
16: 36,909,715 (GRCm39) |
Y2366* |
probably null |
Het |
| Prg3 |
T |
C |
2: 84,819,097 (GRCm39) |
S8P |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,962,952 (GRCm39) |
L17* |
probably null |
Het |
| Prl8a8 |
A |
T |
13: 27,695,479 (GRCm39) |
S51R |
probably damaging |
Het |
| Pttg1 |
G |
C |
11: 43,311,976 (GRCm39) |
P160A |
probably benign |
Het |
| Rbfox1 |
C |
A |
16: 7,170,867 (GRCm39) |
R276S |
possibly damaging |
Het |
| Rnase2a |
T |
G |
14: 51,492,988 (GRCm39) |
M126L |
probably benign |
Het |
| Secisbp2 |
A |
T |
13: 51,810,943 (GRCm39) |
K202* |
probably null |
Het |
| Sema6c |
A |
G |
3: 95,076,156 (GRCm39) |
H236R |
possibly damaging |
Het |
| Septin12 |
A |
G |
16: 4,809,857 (GRCm39) |
L181P |
probably damaging |
Het |
| Shc3 |
A |
T |
13: 51,585,241 (GRCm39) |
V458D |
possibly damaging |
Het |
| Tecta |
A |
G |
9: 42,278,239 (GRCm39) |
Y1090H |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,379,429 (GRCm39) |
N998K |
|
Het |
| Tmem131l |
A |
T |
3: 83,826,766 (GRCm39) |
S1184T |
possibly damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,647,887 (GRCm39) |
D251G |
probably damaging |
Het |
| Ttyh3 |
T |
C |
5: 140,615,540 (GRCm39) |
E348G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,439,665 (GRCm39) |
L186P |
probably damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,219,045 (GRCm39) |
N446K |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,959 (GRCm39) |
D193G |
possibly damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,262,376 (GRCm39) |
M121K |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,253 (GRCm39) |
D189G |
|
Het |
| Vwc2l |
C |
A |
1: 70,768,252 (GRCm39) |
C105* |
probably null |
Het |
| Zfhx4 |
A |
T |
3: 5,467,549 (GRCm39) |
D2594V |
probably damaging |
Het |
| Zfp174 |
C |
T |
16: 3,672,269 (GRCm39) |
H273Y |
probably benign |
Het |
| Zwilch |
A |
G |
9: 64,068,658 (GRCm39) |
S203P |
probably 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 |
|
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'- GTAGCATTATTTCCACCATCGC -3'
(R):5'- TGCAGGCCCAGAGTAAATCTTC -3'
Sequencing Primer
(F):5'- AATTCTCTGCTAATCTTGCAGGCAG -3'
(R):5'- GGCCCAGAGTAAATCTTCCAGTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation