Incidental Mutation 'R6111:Wdr72'
| ID |
484850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr72
|
| Ensembl Gene |
ENSMUSG00000044976 |
| Gene Name |
WD repeat domain 72 |
| Synonyms |
|
| MMRRC Submission |
044260-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R6111 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
74017608-74190485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74117607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 773
(M773T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055879]
[ENSMUST00000215440]
|
| AlphaFold |
D3YYM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055879
AA Change: M785T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000057320
Gene: ENSMUSG00000044976
AA Change: M785T
| 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 benign
Transcript: ENSMUST00000215440
AA Change: M773T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (57/58) |
| 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 |
|---|
| 2210408I21Rik |
A |
G |
13: 77,476,021 (GRCm39) |
E1110G |
possibly damaging |
Het |
| Abcd4 |
G |
A |
12: 84,661,888 (GRCm39) |
T79I |
probably damaging |
Het |
| Acd |
A |
G |
8: 106,424,919 (GRCm39) |
M407T |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,877,360 (GRCm39) |
H460L |
probably damaging |
Het |
| Atad2 |
G |
A |
15: 57,971,487 (GRCm39) |
H752Y |
probably benign |
Het |
| Bmal2 |
T |
C |
6: 146,722,097 (GRCm39) |
F223L |
probably benign |
Het |
| Camsap2 |
A |
G |
1: 136,209,036 (GRCm39) |
S819P |
probably benign |
Het |
| Col24a1 |
C |
A |
3: 145,019,815 (GRCm39) |
T62K |
probably damaging |
Het |
| Cpne6 |
G |
A |
14: 55,752,091 (GRCm39) |
V283M |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,055,368 (GRCm39) |
S590P |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,989,038 (GRCm39) |
M146K |
unknown |
Het |
| Dclk2 |
A |
G |
3: 86,712,968 (GRCm39) |
Y495H |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,757,766 (GRCm39) |
C330* |
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,931,692 (GRCm39) |
L37P |
possibly damaging |
Het |
| Dock2 |
G |
A |
11: 34,599,614 (GRCm39) |
P322S |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,208,323 (GRCm39) |
E443G |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,015,953 (GRCm39) |
D338V |
possibly damaging |
Het |
| Fcmr |
A |
G |
1: 130,805,566 (GRCm39) |
I267V |
probably damaging |
Het |
| Gfra3 |
T |
A |
18: 34,823,927 (GRCm39) |
H349L |
probably damaging |
Het |
| Gm25747 |
A |
G |
12: 113,392,703 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
G |
A |
9: 4,502,430 (GRCm39) |
R368C |
probably damaging |
Het |
| H2-Q5 |
A |
T |
17: 35,613,885 (GRCm39) |
I145F |
possibly damaging |
Het |
| Hace1 |
A |
T |
10: 45,465,606 (GRCm39) |
K54I |
possibly damaging |
Het |
| Ift122 |
T |
A |
6: 115,852,247 (GRCm39) |
I79N |
probably damaging |
Het |
| Ino80b |
A |
G |
6: 83,101,347 (GRCm39) |
V121A |
probably damaging |
Het |
| Kcnq1 |
A |
G |
7: 142,661,474 (GRCm39) |
T63A |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,050,822 (GRCm39) |
Q762K |
probably benign |
Het |
| Mios |
G |
A |
6: 8,214,836 (GRCm39) |
A11T |
probably benign |
Het |
| Nfatc1 |
A |
G |
18: 80,741,125 (GRCm39) |
S278P |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,053,609 (GRCm39) |
S2091P |
probably benign |
Het |
| Nudt19 |
T |
A |
7: 35,254,952 (GRCm39) |
D93V |
probably benign |
Het |
| Or8b12b |
T |
C |
9: 37,684,228 (GRCm39) |
I91T |
probably damaging |
Het |
| Osbpl2 |
A |
G |
2: 179,791,994 (GRCm39) |
T233A |
probably benign |
Het |
| P3h1 |
C |
T |
4: 119,098,329 (GRCm39) |
R369* |
probably null |
Het |
| Pcdhb3 |
A |
T |
18: 37,435,242 (GRCm39) |
I403L |
probably benign |
Het |
| Pigo |
T |
C |
4: 43,019,724 (GRCm39) |
D935G |
probably benign |
Het |
| Plpp1 |
A |
G |
13: 113,003,451 (GRCm39) |
H224R |
probably damaging |
Het |
| Rai1 |
T |
A |
11: 60,078,732 (GRCm39) |
M932K |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,384,412 (GRCm39) |
F122L |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,546,153 (GRCm39) |
T77A |
unknown |
Het |
| Skint5 |
T |
C |
4: 113,562,845 (GRCm39) |
T786A |
unknown |
Het |
| Smok3c |
C |
A |
5: 138,063,365 (GRCm39) |
P284Q |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,923,963 (GRCm39) |
V786A |
probably damaging |
Het |
| Tmem273 |
T |
C |
14: 32,528,755 (GRCm39) |
I40T |
possibly damaging |
Het |
| Tnfrsf10b |
T |
A |
14: 70,020,007 (GRCm39) |
C380S |
possibly damaging |
Het |
| Tsen54 |
T |
C |
11: 115,710,956 (GRCm39) |
V176A |
possibly damaging |
Het |
| Ttll4 |
A |
T |
1: 74,736,698 (GRCm39) |
K1141M |
possibly damaging |
Het |
| Ttpa |
A |
T |
4: 20,014,772 (GRCm39) |
I116F |
probably damaging |
Het |
| Tubgcp6 |
T |
C |
15: 88,985,123 (GRCm39) |
D1655G |
possibly damaging |
Het |
| Usp38 |
A |
G |
8: 81,740,551 (GRCm39) |
V172A |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,520,997 (GRCm39) |
S324P |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,161 (GRCm39) |
H1467Q |
possibly damaging |
Het |
| Zdhhc8 |
G |
T |
16: 18,042,762 (GRCm39) |
S479R |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 88,509,315 (GRCm39) |
V322A |
probably damaging |
Het |
| Zfp87 |
T |
G |
13: 74,520,504 (GRCm39) |
E191D |
probably benign |
Het |
| Zfp933 |
T |
C |
4: 147,913,217 (GRCm39) |
T14A |
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 |
|
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'- GGCTCATTCTATGGAGGTGAC -3'
(R):5'- GGTCTTCATTCGAGGCAAGTC -3'
Sequencing Primer
(F):5'- GTGACATCTTGAGGAGAGCC -3'
(R):5'- TTCATTCGAGGCAAGTCCCAAAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation