Incidental Mutation 'R0107:Wdr72'
| ID |
33334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr72
|
| Ensembl Gene |
ENSMUSG00000044976 |
| Gene Name |
WD repeat domain 72 |
| Synonyms |
|
| MMRRC Submission |
038393-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R0107 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
74017608-74190485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74117715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 821
(D821V)
|
| 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: D821V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: D821V
| 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: D809V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.2636 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 90.6%
|
| Validation Efficiency |
99% (71/72) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
A |
3: 59,659,737 (GRCm39) |
L397I |
possibly damaging |
Het |
| Abca1 |
A |
G |
4: 53,080,834 (GRCm39) |
V825A |
probably benign |
Het |
| Adamts7 |
T |
C |
9: 90,062,773 (GRCm39) |
I409T |
possibly damaging |
Het |
| Adck1 |
T |
C |
12: 88,413,426 (GRCm39) |
W253R |
possibly damaging |
Het |
| Afg3l2 |
A |
G |
18: 67,564,836 (GRCm39) |
F213L |
probably damaging |
Het |
| Ankle2 |
T |
C |
5: 110,400,893 (GRCm39) |
V743A |
probably benign |
Het |
| Ankrd34c |
C |
T |
9: 89,611,537 (GRCm39) |
R268H |
probably benign |
Het |
| Arb2a |
A |
G |
13: 78,050,933 (GRCm39) |
D145G |
probably damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Ccdc7b |
T |
G |
8: 129,904,678 (GRCm39) |
|
probably benign |
Het |
| Cd320 |
A |
T |
17: 34,067,059 (GRCm39) |
M169L |
probably benign |
Het |
| Chn1 |
A |
G |
2: 73,445,028 (GRCm39) |
Y338H |
probably damaging |
Het |
| Chuk |
T |
A |
19: 44,085,358 (GRCm39) |
S263C |
probably damaging |
Het |
| Dennd4b |
C |
A |
3: 90,180,043 (GRCm39) |
P663T |
possibly damaging |
Het |
| Dnajc24 |
T |
G |
2: 105,832,259 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,189,275 (GRCm39) |
V1617A |
probably benign |
Het |
| Fermt2 |
T |
C |
14: 45,702,279 (GRCm39) |
N502D |
probably damaging |
Het |
| Frrs1 |
A |
T |
3: 116,690,365 (GRCm39) |
I3F |
probably damaging |
Het |
| Fut1 |
C |
A |
7: 45,268,270 (GRCm39) |
Q20K |
possibly damaging |
Het |
| Gbf1 |
T |
C |
19: 46,273,267 (GRCm39) |
V1709A |
probably benign |
Het |
| Gfra3 |
G |
T |
18: 34,844,359 (GRCm39) |
H60Q |
probably benign |
Het |
| Gm10750 |
T |
A |
2: 148,857,973 (GRCm39) |
M93L |
unknown |
Het |
| Hmcn1 |
T |
A |
1: 150,462,766 (GRCm39) |
I5124L |
probably benign |
Het |
| Hps3 |
A |
C |
3: 20,084,960 (GRCm39) |
L76R |
probably damaging |
Het |
| Ifrd1 |
T |
A |
12: 40,264,080 (GRCm39) |
Q105L |
probably damaging |
Het |
| Irs2 |
A |
T |
8: 11,054,691 (GRCm39) |
V1247E |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,927,731 (GRCm39) |
|
probably benign |
Het |
| Ivns1abp |
A |
T |
1: 151,237,321 (GRCm39) |
N495I |
probably damaging |
Het |
| Kank1 |
T |
A |
19: 25,407,730 (GRCm39) |
|
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,067,388 (GRCm39) |
Q657R |
probably benign |
Het |
| Mthfd1l |
T |
C |
10: 3,991,838 (GRCm39) |
Y597H |
probably benign |
Het |
| Myom1 |
G |
A |
17: 71,384,360 (GRCm39) |
V692I |
probably damaging |
Het |
| Or13a17 |
A |
T |
7: 140,271,258 (GRCm39) |
M147L |
probably benign |
Het |
| Or1j18 |
T |
G |
2: 36,624,730 (GRCm39) |
Y132* |
probably null |
Het |
| Or7g20 |
A |
G |
9: 18,946,629 (GRCm39) |
D70G |
probably damaging |
Het |
| Palmd |
A |
T |
3: 116,717,725 (GRCm39) |
H257Q |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,480,325 (GRCm39) |
V1994D |
probably benign |
Het |
| Phkb |
G |
A |
8: 86,743,560 (GRCm39) |
G553S |
probably benign |
Het |
| Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
| Ptprn |
A |
T |
1: 75,232,356 (GRCm39) |
L453M |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,000,569 (GRCm39) |
D886E |
probably damaging |
Het |
| Rcn1 |
T |
A |
2: 105,225,126 (GRCm39) |
I110F |
possibly damaging |
Het |
| Scn1a |
T |
A |
2: 66,154,977 (GRCm39) |
T661S |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,832,176 (GRCm39) |
Y467H |
possibly damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,395,783 (GRCm39) |
D611E |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,989,395 (GRCm39) |
E104G |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,958,103 (GRCm39) |
K920N |
possibly damaging |
Het |
| St3gal5 |
A |
G |
6: 72,119,133 (GRCm39) |
S82G |
probably benign |
Het |
| Tlk1 |
T |
C |
2: 70,544,333 (GRCm39) |
*767W |
probably null |
Het |
| Tln2 |
A |
G |
9: 67,277,988 (GRCm39) |
V342A |
probably damaging |
Het |
| Tmem104 |
T |
A |
11: 115,093,006 (GRCm39) |
M132K |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,323,702 (GRCm39) |
S387P |
possibly damaging |
Het |
| Tmtc1 |
A |
G |
6: 148,327,411 (GRCm39) |
V34A |
possibly damaging |
Het |
| Trim46 |
A |
G |
3: 89,143,640 (GRCm39) |
F596S |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,100,784 (GRCm39) |
D1870E |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,614,253 (GRCm39) |
T1234A |
probably benign |
Het |
| Vmn1r31 |
T |
A |
6: 58,449,728 (GRCm39) |
T46S |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,669,188 (GRCm39) |
L1341Q |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,464,042 (GRCm39) |
L1400P |
probably damaging |
Het |
| Zfp217 |
T |
A |
2: 169,956,794 (GRCm39) |
K735* |
probably null |
Het |
| Zfp235 |
A |
G |
7: 23,836,541 (GRCm39) |
Q29R |
probably damaging |
Het |
| Zfp628 |
A |
G |
7: 4,923,167 (GRCm39) |
Y463C |
probably damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,751 (GRCm39) |
T401A |
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 |
|
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 |
|
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'- CATCTTGAGGAGAGCCAAGAGCAC -3'
(R):5'- GCATCTGATTGCTGCACAGAGTCAC -3'
Sequencing Primer
(F):5'- CAAAGCATCGTGTAGCTCTC -3'
(R):5'- GTCCAAAACTTTTCTGGAGCACAG -3'
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| Posted On |
2013-05-09 |
Incidental Mutation