Incidental Mutation 'R6705:Wdr27'
| ID |
528920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr27
|
| Ensembl Gene |
ENSMUSG00000046991 |
| Gene Name |
WD repeat domain 27 |
| Synonyms |
0610012K18Rik |
| MMRRC Submission |
044823-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R6705 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
15038781-15163420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15154852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 22
(Y22N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170386]
[ENSMUST00000228330]
[ENSMUST00000232147]
|
| AlphaFold |
Q8C5V5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170386
AA Change: Y22N
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: Y22N
| 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 |
noncoding transcript
Transcript: ENSMUST00000228221
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228330
AA Change: Y22N
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228869
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232147
AA Change: Y22N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.3339 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
G |
A |
19: 57,204,253 (GRCm39) |
T46I |
probably benign |
Het |
| Afdn |
G |
A |
17: 14,108,283 (GRCm39) |
V1269I |
probably benign |
Het |
| Aldh5a1 |
A |
T |
13: 25,096,253 (GRCm39) |
N448K |
probably damaging |
Het |
| Cant1 |
G |
T |
11: 118,298,698 (GRCm39) |
T355K |
probably damaging |
Het |
| Ccn2 |
T |
A |
10: 24,471,853 (GRCm39) |
L25Q |
probably damaging |
Het |
| Comp |
C |
A |
8: 70,829,387 (GRCm39) |
N321K |
probably damaging |
Het |
| D1Pas1 |
G |
T |
1: 186,700,576 (GRCm39) |
E168D |
probably benign |
Het |
| Ddx23 |
G |
A |
15: 98,550,849 (GRCm39) |
R111* |
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Erlin2 |
T |
A |
8: 27,526,468 (GRCm39) |
L276Q |
probably damaging |
Het |
| Etaa1 |
T |
C |
11: 17,895,639 (GRCm39) |
N826S |
probably benign |
Het |
| Fam168b |
A |
T |
1: 34,867,864 (GRCm39) |
N45K |
probably damaging |
Het |
| Gas2l2 |
G |
A |
11: 83,313,462 (GRCm39) |
R617* |
probably null |
Het |
| Gtf3c2 |
C |
A |
5: 31,323,352 (GRCm39) |
C533F |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,092,062 (GRCm39) |
T676A |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,925,716 (GRCm39) |
|
probably null |
Het |
| Igkv3-7 |
A |
T |
6: 70,585,004 (GRCm39) |
S95C |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,952,926 (GRCm39) |
I899V |
probably damaging |
Het |
| Lgr5 |
G |
A |
10: 115,423,193 (GRCm39) |
S69F |
probably damaging |
Het |
| Lrrc55 |
A |
T |
2: 85,026,699 (GRCm39) |
D108E |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,429,027 (GRCm39) |
N667S |
possibly damaging |
Het |
| Myf6 |
C |
T |
10: 107,329,690 (GRCm39) |
V198M |
possibly damaging |
Het |
| Nav2 |
T |
C |
7: 49,201,664 (GRCm39) |
S1413P |
probably damaging |
Het |
| Nfe2l1 |
A |
C |
11: 96,718,451 (GRCm39) |
V28G |
probably damaging |
Het |
| Nup210 |
G |
T |
6: 91,064,942 (GRCm39) |
T186K |
possibly damaging |
Het |
| Or13a18 |
T |
A |
7: 140,190,697 (GRCm39) |
M206K |
probably damaging |
Het |
| Or6c1b |
G |
A |
10: 129,272,941 (GRCm39) |
D87N |
probably benign |
Het |
| Or8b12 |
T |
A |
9: 37,658,030 (GRCm39) |
I200N |
possibly damaging |
Het |
| Or8b4 |
T |
A |
9: 37,830,080 (GRCm39) |
N42K |
probably damaging |
Het |
| Ppfia1 |
G |
A |
7: 144,072,911 (GRCm39) |
T301M |
possibly damaging |
Het |
| Ppp1r14c |
A |
T |
10: 3,316,890 (GRCm39) |
Y75F |
probably damaging |
Het |
| Ppp1r3g |
C |
A |
13: 36,152,880 (GRCm39) |
A100E |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,823,493 (GRCm39) |
T1557A |
probably benign |
Het |
| Shc1 |
C |
T |
3: 89,330,266 (GRCm39) |
R67* |
probably null |
Het |
| Skint10 |
A |
T |
4: 112,630,301 (GRCm39) |
|
probably benign |
Het |
| Slk |
A |
G |
19: 47,597,498 (GRCm39) |
N102S |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,332,203 (GRCm39) |
|
probably benign |
Het |
| Tiam2 |
G |
A |
17: 3,568,518 (GRCm39) |
V1555I |
probably benign |
Het |
| Vmn1r174 |
C |
A |
7: 23,453,851 (GRCm39) |
S172R |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,151,157 (GRCm39) |
N823K |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 146,878,582 (GRCm39) |
|
probably null |
Het |
| Zbp1 |
A |
T |
2: 173,055,680 (GRCm39) |
C161* |
probably null |
Het |
| Zfp236 |
T |
A |
18: 82,651,862 (GRCm39) |
E821V |
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 |
|
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 |
|
R9183:Wdr27
|
UTSW |
17 |
15,148,651 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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'- CTCACAGGTGACTCCATGAG -3'
(R):5'- TACACTCATGCTCATGGTGATG -3'
Sequencing Primer
(F):5'- CTCCATGAGAGGGAATGTTTCTAG -3'
(R):5'- CCGTGTATTGCACATGGT -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation