Incidental Mutation 'R9183:Wdr27'
ID |
697212 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr27
|
Ensembl Gene |
ENSMUSG00000046991 |
Gene Name |
WD repeat domain 27 |
Synonyms |
0610012K18Rik |
MMRRC Submission |
068950-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.170)
|
Stock # |
R9183 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
15038781-15163420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 15148651 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 114
(R114Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126736
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170386]
[ENSMUST00000228330]
[ENSMUST00000232147]
|
AlphaFold |
Q8C5V5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170386
AA Change: R114Q
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000126736 Gene: ENSMUSG00000046991 AA Change: R114Q
Domain | Start | End | E-Value | Type |
WD40
|
59 |
99 |
4.79e-1 |
SMART |
WD40
|
114 |
149 |
6.36e1 |
SMART |
WD40
|
152 |
192 |
3.93e-7 |
SMART |
WD40
|
195 |
235 |
2.38e1 |
SMART |
low complexity region
|
473 |
492 |
N/A |
INTRINSIC |
WD40
|
498 |
539 |
1.48e1 |
SMART |
WD40
|
542 |
581 |
5.26e-8 |
SMART |
WD40
|
642 |
684 |
2.97e0 |
SMART |
WD40
|
687 |
737 |
7.64e1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228330
AA Change: R114Q
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232147
AA Change: R114Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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 multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
A |
G |
14: 8,251,559 (GRCm38) |
C313R |
probably damaging |
Het |
Adap2 |
A |
G |
11: 80,045,882 (GRCm39) |
N54S |
probably damaging |
Het |
Adcy8 |
T |
C |
15: 64,694,116 (GRCm39) |
D387G |
probably damaging |
Het |
Adgra1 |
G |
A |
7: 139,455,716 (GRCm39) |
R448Q |
probably benign |
Het |
Antxr1 |
A |
T |
6: 87,264,025 (GRCm39) |
D148E |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,545,627 (GRCm39) |
V1034E |
probably null |
Het |
Arpp21 |
C |
T |
9: 111,895,066 (GRCm39) |
A731T |
probably benign |
Het |
Asl |
T |
A |
5: 130,042,312 (GRCm39) |
R255W |
probably damaging |
Het |
Asxl1 |
T |
A |
2: 153,239,840 (GRCm39) |
S544T |
probably damaging |
Het |
Atp8a1 |
A |
C |
5: 67,924,378 (GRCm39) |
Y329D |
|
Het |
Calcr |
A |
T |
6: 3,711,463 (GRCm39) |
I186N |
probably damaging |
Het |
Cdh18 |
T |
C |
15: 23,227,065 (GRCm39) |
|
probably null |
Het |
Celsr3 |
T |
C |
9: 108,706,595 (GRCm39) |
L1026P |
probably damaging |
Het |
Ces2a |
T |
A |
8: 105,460,774 (GRCm39) |
V24E |
possibly damaging |
Het |
Clybl |
T |
C |
14: 122,639,387 (GRCm39) |
I317T |
probably damaging |
Het |
Col13a1 |
T |
A |
10: 61,699,758 (GRCm39) |
T476S |
unknown |
Het |
Cyp4f15 |
T |
C |
17: 32,919,205 (GRCm39) |
S343P |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,059,112 (GRCm39) |
T263A |
probably benign |
Het |
Fbxo28 |
A |
G |
1: 182,157,526 (GRCm39) |
V97A |
possibly damaging |
Het |
Frem2 |
C |
T |
3: 53,427,486 (GRCm39) |
V2889I |
probably damaging |
Het |
Garnl3 |
T |
C |
2: 32,895,080 (GRCm39) |
E663G |
probably damaging |
Het |
Gen1 |
T |
A |
12: 11,299,186 (GRCm39) |
K338M |
probably damaging |
Het |
Gfi1 |
A |
G |
5: 107,873,819 (GRCm39) |
|
probably null |
Het |
Gfod2 |
A |
G |
8: 106,449,653 (GRCm39) |
S95P |
probably benign |
Het |
H2-T13 |
T |
A |
17: 36,392,382 (GRCm39) |
H31L |
unknown |
Het |
Heatr1 |
A |
G |
13: 12,436,266 (GRCm39) |
Q1224R |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,437,551 (GRCm39) |
K1059E |
possibly damaging |
Het |
Hmgcs2 |
C |
T |
3: 98,198,232 (GRCm39) |
A45V |
possibly damaging |
Het |
Hnmt |
C |
A |
2: 23,893,655 (GRCm39) |
V280L |
probably benign |
Het |
Ifi35 |
G |
T |
11: 101,348,091 (GRCm39) |
V66L |
probably benign |
Het |
Kcnn2 |
T |
C |
18: 45,694,379 (GRCm39) |
I188T |
probably damaging |
Het |
Klhl8 |
C |
A |
5: 104,012,111 (GRCm39) |
A575S |
probably benign |
Het |
Krt6a |
T |
C |
15: 101,601,446 (GRCm39) |
D225G |
probably benign |
Het |
Lrtm2 |
T |
C |
6: 119,294,384 (GRCm39) |
Y249C |
probably damaging |
Het |
Med12l |
C |
T |
3: 58,984,498 (GRCm39) |
R479C |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,352,637 (GRCm39) |
Y709F |
possibly damaging |
Het |
Nsd2 |
G |
A |
5: 34,028,796 (GRCm39) |
A162T |
probably damaging |
Het |
Or6c38 |
A |
G |
10: 128,929,201 (GRCm39) |
M214T |
probably benign |
Het |
Phaf1 |
C |
A |
8: 105,957,840 (GRCm39) |
Q49K |
probably benign |
Het |
Polr2h |
T |
C |
16: 20,539,285 (GRCm39) |
Y90H |
possibly damaging |
Het |
Prkaa1 |
A |
T |
15: 5,205,969 (GRCm39) |
E275V |
probably damaging |
Het |
Prss22 |
C |
T |
17: 24,213,592 (GRCm39) |
G233E |
probably damaging |
Het |
Rhcg |
A |
T |
7: 79,244,564 (GRCm39) |
L496* |
probably null |
Het |
Rnf213 |
A |
G |
11: 119,318,448 (GRCm39) |
E1084G |
|
Het |
Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
Slc14a1 |
T |
A |
18: 78,154,598 (GRCm39) |
I263F |
probably benign |
Het |
Slc40a1 |
C |
T |
1: 45,948,671 (GRCm39) |
M536I |
possibly damaging |
Het |
Slco6c1 |
T |
A |
1: 96,996,775 (GRCm39) |
|
probably null |
Het |
Stk32a |
T |
C |
18: 43,394,405 (GRCm39) |
F118S |
probably damaging |
Het |
Sytl1 |
G |
T |
4: 132,980,934 (GRCm39) |
R467S |
possibly damaging |
Het |
Thbs2 |
T |
C |
17: 14,896,526 (GRCm39) |
I788V |
probably benign |
Het |
Tmed6 |
T |
A |
8: 107,788,390 (GRCm39) |
R186* |
probably null |
Het |
Trnau1ap |
G |
A |
4: 132,052,565 (GRCm39) |
R78C |
probably damaging |
Het |
Trpv1 |
A |
T |
11: 73,135,039 (GRCm39) |
D412V |
possibly damaging |
Het |
Ttc16 |
C |
T |
2: 32,647,329 (GRCm39) |
V688M |
probably benign |
Het |
Ubr5 |
C |
A |
15: 37,997,420 (GRCm39) |
L1738F |
|
Het |
Vmn2r89 |
A |
G |
14: 51,692,501 (GRCm39) |
I101M |
probably benign |
Het |
Wdr48 |
A |
G |
9: 119,749,730 (GRCm39) |
H563R |
possibly damaging |
Het |
Wdr49 |
A |
C |
3: 75,205,419 (GRCm39) |
S666A |
probably benign |
Het |
Wwox |
T |
C |
8: 115,433,110 (GRCm39) |
S259P |
probably damaging |
Het |
Zfp160 |
T |
A |
17: 21,240,354 (GRCm39) |
D12E |
possibly damaging |
Het |
Zfp800 |
A |
G |
6: 28,243,172 (GRCm39) |
Y598H |
probably benign |
Het |
Zfp970 |
T |
C |
2: 177,167,536 (GRCm39) |
L370P |
probably damaging |
Het |
Zmat5 |
A |
T |
11: 4,672,431 (GRCm39) |
D16V |
probably damaging |
Het |
|
Other mutations in Wdr27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Wdr27
|
APN |
17 |
15,148,572 (GRCm39) |
nonsense |
probably null |
|
IGL00973:Wdr27
|
APN |
17 |
15,134,140 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01012:Wdr27
|
APN |
17 |
15,146,509 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01924:Wdr27
|
APN |
17 |
15,137,488 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02044:Wdr27
|
APN |
17 |
15,122,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02198:Wdr27
|
APN |
17 |
15,128,860 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL02430:Wdr27
|
APN |
17 |
15,122,062 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02496:Wdr27
|
APN |
17 |
15,112,693 (GRCm39) |
splice site |
probably benign |
|
IGL02552:Wdr27
|
APN |
17 |
15,146,453 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02590:Wdr27
|
APN |
17 |
15,138,041 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02892:Wdr27
|
APN |
17 |
15,096,438 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02957:Wdr27
|
APN |
17 |
15,130,372 (GRCm39) |
splice site |
probably benign |
|
IGL03295:Wdr27
|
APN |
17 |
15,154,837 (GRCm39) |
missense |
possibly damaging |
0.71 |
PIT4498001:Wdr27
|
UTSW |
17 |
15,154,831 (GRCm39) |
missense |
probably benign |
0.01 |
R0329:Wdr27
|
UTSW |
17 |
15,154,721 (GRCm39) |
splice site |
probably benign |
|
R0671:Wdr27
|
UTSW |
17 |
15,148,658 (GRCm39) |
missense |
probably benign |
0.04 |
R1166:Wdr27
|
UTSW |
17 |
15,112,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R1308:Wdr27
|
UTSW |
17 |
15,148,646 (GRCm39) |
missense |
probably damaging |
0.98 |
R1652:Wdr27
|
UTSW |
17 |
15,137,532 (GRCm39) |
missense |
probably benign |
0.01 |
R1771:Wdr27
|
UTSW |
17 |
15,112,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R1966:Wdr27
|
UTSW |
17 |
15,154,861 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2106:Wdr27
|
UTSW |
17 |
15,141,116 (GRCm39) |
missense |
probably benign |
0.44 |
R2131:Wdr27
|
UTSW |
17 |
15,148,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R3803:Wdr27
|
UTSW |
17 |
15,138,371 (GRCm39) |
missense |
probably benign |
0.01 |
R4335:Wdr27
|
UTSW |
17 |
15,141,018 (GRCm39) |
splice site |
probably null |
|
R4577:Wdr27
|
UTSW |
17 |
15,123,724 (GRCm39) |
missense |
probably benign |
0.00 |
R4787:Wdr27
|
UTSW |
17 |
15,152,816 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4853:Wdr27
|
UTSW |
17 |
15,137,475 (GRCm39) |
splice site |
probably null |
|
R4922:Wdr27
|
UTSW |
17 |
15,141,016 (GRCm39) |
splice site |
probably null |
|
R4951:Wdr27
|
UTSW |
17 |
15,096,395 (GRCm39) |
missense |
probably damaging |
0.99 |
R5784:Wdr27
|
UTSW |
17 |
15,146,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R5809:Wdr27
|
UTSW |
17 |
15,103,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R6128:Wdr27
|
UTSW |
17 |
15,152,796 (GRCm39) |
nonsense |
probably null |
|
R6584:Wdr27
|
UTSW |
17 |
15,122,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R6705:Wdr27
|
UTSW |
17 |
15,154,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R7511:Wdr27
|
UTSW |
17 |
15,103,965 (GRCm39) |
missense |
probably benign |
0.00 |
R8273:Wdr27
|
UTSW |
17 |
15,049,838 (GRCm39) |
missense |
probably benign |
|
R8350:Wdr27
|
UTSW |
17 |
15,152,787 (GRCm39) |
missense |
probably benign |
|
R8353:Wdr27
|
UTSW |
17 |
15,112,751 (GRCm39) |
missense |
probably benign |
0.08 |
R8450:Wdr27
|
UTSW |
17 |
15,152,787 (GRCm39) |
missense |
probably benign |
|
R8453:Wdr27
|
UTSW |
17 |
15,112,751 (GRCm39) |
missense |
probably benign |
0.08 |
R8535:Wdr27
|
UTSW |
17 |
15,123,799 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8735:Wdr27
|
UTSW |
17 |
15,103,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R8960:Wdr27
|
UTSW |
17 |
15,103,908 (GRCm39) |
missense |
probably benign |
0.01 |
R9120:Wdr27
|
UTSW |
17 |
15,152,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R9351:Wdr27
|
UTSW |
17 |
15,128,833 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9373:Wdr27
|
UTSW |
17 |
15,154,795 (GRCm39) |
missense |
probably benign |
0.00 |
R9389:Wdr27
|
UTSW |
17 |
15,111,980 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCGTTTTAAAGAGGGAAGC -3'
(R):5'- GAGGCCAGTTTCCATATGGC -3'
Sequencing Primer
(F):5'- GAAGCAGGAATGAAATACTCACC -3'
(R):5'- TGATCCTGTACTGAAAAACCTCAGG -3'
|
Posted On |
2022-02-07 |