Incidental Mutation 'IGL02957:Wdr27'
| ID |
365201 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr27
|
| Ensembl Gene |
ENSMUSG00000046991 |
| Gene Name |
WD repeat domain 27 |
| Synonyms |
0610012K18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
IGL02957
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
14818519-14943158 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 14910110 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170386]
[ENSMUST00000228330]
[ENSMUST00000232147]
|
| AlphaFold |
Q8C5V5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170386
|
| SMART Domains |
Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
| 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: ENSMUST00000228233
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228330
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232147
|
| Coding Region Coverage |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630095E13Rik |
G |
T |
9: 36,637,850 (GRCm38) |
T38K |
probably benign |
Het |
| Abi2 |
A |
G |
1: 60,470,786 (GRCm38) |
D262G |
probably damaging |
Het |
| Ahcyl1 |
G |
T |
3: 107,667,642 (GRCm38) |
Q462K |
probably damaging |
Het |
| Btbd11 |
C |
T |
10: 85,631,286 (GRCm38) |
|
probably benign |
Het |
| Btbd11 |
T |
A |
10: 85,633,837 (GRCm38) |
M405K |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,766,455 (GRCm38) |
T20A |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,634,068 (GRCm38) |
Y594N |
possibly damaging |
Het |
| Crtc2 |
C |
T |
3: 90,262,533 (GRCm38) |
P412L |
probably damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,779,662 (GRCm38) |
R373* |
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,763,133 (GRCm38) |
D1277G |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,448,507 (GRCm38) |
V3058E |
possibly damaging |
Het |
| Eif3l |
T |
C |
15: 79,089,828 (GRCm38) |
L481P |
probably benign |
Het |
| Fbxw7 |
A |
T |
3: 84,976,237 (GRCm38) |
T573S |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 28,091,847 (GRCm38) |
Y844* |
probably null |
Het |
| Fcrls |
C |
A |
3: 87,262,194 (GRCm38) |
V13F |
possibly damaging |
Het |
| Gbx2 |
T |
G |
1: 89,930,653 (GRCm38) |
S35R |
probably benign |
Het |
| Gm10767 |
A |
T |
13: 66,908,213 (GRCm38) |
|
probably benign |
Het |
| H2-M9 |
A |
G |
17: 36,642,157 (GRCm38) |
L86S |
probably benign |
Het |
| Hebp1 |
C |
T |
6: 135,137,992 (GRCm38) |
G157D |
probably benign |
Het |
| Igf2bp3 |
C |
A |
6: 49,087,404 (GRCm38) |
V560L |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,330,864 (GRCm38) |
I632T |
probably damaging |
Het |
| Kcnab2 |
A |
T |
4: 152,435,869 (GRCm38) |
S5T |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,007,665 (GRCm38) |
S502G |
probably benign |
Het |
| Lpcat2 |
T |
A |
8: 92,875,584 (GRCm38) |
Y224* |
probably null |
Het |
| Mcrip2 |
A |
G |
17: 25,868,525 (GRCm38) |
V24A |
probably damaging |
Het |
| Mttp |
T |
C |
3: 138,109,081 (GRCm38) |
K493E |
possibly damaging |
Het |
| Myl7 |
A |
G |
11: 5,897,137 (GRCm38) |
S139P |
possibly damaging |
Het |
| Npepps |
C |
T |
11: 97,242,652 (GRCm38) |
R268H |
probably damaging |
Het |
| Oas1c |
C |
T |
5: 120,805,413 (GRCm38) |
W18* |
probably null |
Het |
| Olfr1328 |
G |
T |
4: 118,934,119 (GRCm38) |
T241N |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 100,318,905 (GRCm38) |
|
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,065,745 (GRCm38) |
T436I |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,512,908 (GRCm38) |
W989R |
probably damaging |
Het |
| Podxl |
A |
G |
6: 31,528,449 (GRCm38) |
|
probably benign |
Het |
| Pot1b |
T |
C |
17: 55,700,009 (GRCm38) |
Y36C |
probably damaging |
Het |
| Ppme1 |
A |
T |
7: 100,338,440 (GRCm38) |
I103K |
possibly damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,198,918 (GRCm38) |
I108T |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,397,598 (GRCm38) |
H281R |
probably benign |
Het |
| Prep |
T |
C |
10: 45,126,030 (GRCm38) |
V427A |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,496,026 (GRCm38) |
D451G |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,706,535 (GRCm38) |
|
probably benign |
Het |
| Rrm2 |
A |
G |
12: 24,708,441 (GRCm38) |
N32S |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,249,224 (GRCm38) |
L752P |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,195,845 (GRCm38) |
I429N |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,169,990 (GRCm38) |
L336P |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,311,992 (GRCm38) |
M284L |
probably benign |
Het |
| Syde2 |
T |
C |
3: 145,989,179 (GRCm38) |
|
probably benign |
Het |
| Tcta |
G |
A |
9: 108,305,332 (GRCm38) |
S91F |
possibly damaging |
Het |
| Traf3ip2 |
A |
T |
10: 39,654,410 (GRCm38) |
T517S |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,285,872 (GRCm38) |
Y359C |
probably damaging |
Het |
| Vmn1r66 |
A |
G |
7: 10,274,810 (GRCm38) |
S99P |
probably damaging |
Het |
| Vmn2r8 |
G |
A |
5: 108,802,225 (GRCm38) |
T252M |
probably benign |
Het |
| Yipf1 |
A |
G |
4: 107,336,150 (GRCm38) |
T78A |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,710,929 (GRCm38) |
Y233F |
probably benign |
Het |
|
| Other mutations in Wdr27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Wdr27
|
APN |
17 |
14,928,310 (GRCm38) |
nonsense |
probably null |
|
|
IGL00973:Wdr27
|
APN |
17 |
14,913,878 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01012:Wdr27
|
APN |
17 |
14,926,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01924:Wdr27
|
APN |
17 |
14,917,226 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02044:Wdr27
|
APN |
17 |
14,901,769 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL02198:Wdr27
|
APN |
17 |
14,908,598 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL02430:Wdr27
|
APN |
17 |
14,901,800 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02496:Wdr27
|
APN |
17 |
14,892,431 (GRCm38) |
splice site |
probably benign |
|
|
IGL02552:Wdr27
|
APN |
17 |
14,926,191 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02590:Wdr27
|
APN |
17 |
14,917,779 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02892:Wdr27
|
APN |
17 |
14,876,176 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03295:Wdr27
|
APN |
17 |
14,934,575 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
PIT4498001:Wdr27
|
UTSW |
17 |
14,934,569 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0329:Wdr27
|
UTSW |
17 |
14,934,459 (GRCm38) |
splice site |
probably benign |
|
|
R0671:Wdr27
|
UTSW |
17 |
14,928,396 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1166:Wdr27
|
UTSW |
17 |
14,892,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1308:Wdr27
|
UTSW |
17 |
14,928,384 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1652:Wdr27
|
UTSW |
17 |
14,917,270 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1771:Wdr27
|
UTSW |
17 |
14,892,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1966:Wdr27
|
UTSW |
17 |
14,934,599 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2106:Wdr27
|
UTSW |
17 |
14,920,854 (GRCm38) |
missense |
probably benign |
0.44 |
|
R2131:Wdr27
|
UTSW |
17 |
14,928,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3803:Wdr27
|
UTSW |
17 |
14,918,109 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4335:Wdr27
|
UTSW |
17 |
14,920,756 (GRCm38) |
splice site |
probably null |
|
|
R4577:Wdr27
|
UTSW |
17 |
14,903,462 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4787:Wdr27
|
UTSW |
17 |
14,932,554 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4853:Wdr27
|
UTSW |
17 |
14,917,213 (GRCm38) |
splice site |
probably null |
|
|
R4922:Wdr27
|
UTSW |
17 |
14,920,754 (GRCm38) |
splice site |
probably null |
|
|
R4951:Wdr27
|
UTSW |
17 |
14,876,133 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5784:Wdr27
|
UTSW |
17 |
14,926,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5809:Wdr27
|
UTSW |
17 |
14,883,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6128:Wdr27
|
UTSW |
17 |
14,932,534 (GRCm38) |
nonsense |
probably null |
|
|
R6584:Wdr27
|
UTSW |
17 |
14,901,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6705:Wdr27
|
UTSW |
17 |
14,934,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7511:Wdr27
|
UTSW |
17 |
14,883,703 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8273:Wdr27
|
UTSW |
17 |
14,829,576 (GRCm38) |
missense |
probably benign |
|
|
R8350:Wdr27
|
UTSW |
17 |
14,932,525 (GRCm38) |
missense |
probably benign |
|
|
R8353:Wdr27
|
UTSW |
17 |
14,892,489 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8450:Wdr27
|
UTSW |
17 |
14,932,525 (GRCm38) |
missense |
probably benign |
|
|
R8453:Wdr27
|
UTSW |
17 |
14,892,489 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8535:Wdr27
|
UTSW |
17 |
14,903,537 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8735:Wdr27
|
UTSW |
17 |
14,883,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8960:Wdr27
|
UTSW |
17 |
14,883,646 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9120:Wdr27
|
UTSW |
17 |
14,932,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9183:Wdr27
|
UTSW |
17 |
14,928,389 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R9351:Wdr27
|
UTSW |
17 |
14,908,571 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R9373:Wdr27
|
UTSW |
17 |
14,934,533 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9389:Wdr27
|
UTSW |
17 |
14,891,718 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2015-12-18 |
Incidental Mutation