Incidental Mutation 'IGL02612:Wdr26'
ID |
300538 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdr26
|
Ensembl Gene |
ENSMUSG00000038733 |
Gene Name |
WD repeat domain 26 |
Synonyms |
Gid7, 1600024A01Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.915)
|
Stock # |
IGL02612
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
181000793-181039566 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
A to T
at 181005361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162819]
[ENSMUST00000162963]
|
AlphaFold |
Q8C6G8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036329
|
SMART Domains |
Protein: ENSMUSP00000045177 Gene: ENSMUSG00000038733
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
low complexity region
|
43 |
70 |
N/A |
INTRINSIC |
low complexity region
|
71 |
83 |
N/A |
INTRINSIC |
LisH
|
100 |
132 |
9.73e-1 |
SMART |
Blast:CTLH
|
133 |
183 |
6e-28 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159290
|
SMART Domains |
Protein: ENSMUSP00000123863 Gene: ENSMUSG00000038733
Domain | Start | End | E-Value | Type |
WD40
|
14 |
56 |
2.77e-1 |
SMART |
WD40
|
59 |
99 |
3.83e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159673
|
SMART Domains |
Protein: ENSMUSP00000125023 Gene: ENSMUSG00000038733
Domain | Start | End | E-Value | Type |
Blast:WD40
|
2 |
38 |
4e-12 |
BLAST |
WD40
|
41 |
83 |
2.77e-1 |
SMART |
WD40
|
86 |
126 |
3.83e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159698
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162819
|
SMART Domains |
Protein: ENSMUSP00000124592 Gene: ENSMUSG00000038733
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
low complexity region
|
46 |
73 |
N/A |
INTRINSIC |
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
LisH
|
103 |
135 |
9.73e-1 |
SMART |
CTLH
|
136 |
211 |
2.41e-5 |
SMART |
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
WD40
|
324 |
363 |
4.76e-6 |
SMART |
WD40
|
370 |
411 |
1.35e-5 |
SMART |
WD40
|
414 |
454 |
2.12e-3 |
SMART |
WD40
|
537 |
579 |
2.77e-1 |
SMART |
WD40
|
582 |
622 |
3.83e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162963
|
SMART Domains |
Protein: ENSMUSP00000124186 Gene: ENSMUSG00000038733
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
low complexity region
|
46 |
73 |
N/A |
INTRINSIC |
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
LisH
|
103 |
135 |
9.73e-1 |
SMART |
CTLH
|
136 |
195 |
4.97e-7 |
SMART |
low complexity region
|
260 |
271 |
N/A |
INTRINSIC |
WD40
|
308 |
347 |
4.76e-6 |
SMART |
WD40
|
354 |
395 |
1.35e-5 |
SMART |
WD40
|
398 |
438 |
2.12e-3 |
SMART |
WD40
|
521 |
563 |
2.77e-1 |
SMART |
WD40
|
566 |
606 |
3.83e-10 |
SMART |
|
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 member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,654,971 (GRCm39) |
M1432L |
probably benign |
Het |
Alg11 |
A |
G |
8: 22,551,999 (GRCm39) |
R48G |
probably benign |
Het |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
Bmp4 |
T |
A |
14: 46,621,938 (GRCm39) |
D202V |
probably damaging |
Het |
Car12 |
T |
G |
9: 66,669,706 (GRCm39) |
L300R |
probably damaging |
Het |
Cdc37l1 |
T |
A |
19: 28,993,502 (GRCm39) |
*336R |
probably null |
Het |
Cep89 |
A |
G |
7: 35,124,080 (GRCm39) |
|
probably null |
Het |
Ces3b |
T |
A |
8: 105,811,901 (GRCm39) |
D103E |
possibly damaging |
Het |
Chd5 |
A |
G |
4: 152,445,033 (GRCm39) |
D338G |
probably damaging |
Het |
Crot |
A |
G |
5: 9,019,945 (GRCm39) |
C466R |
probably damaging |
Het |
Dach2 |
T |
C |
X: 112,660,101 (GRCm39) |
M194T |
probably benign |
Het |
Dmrtc1b |
A |
G |
X: 101,756,873 (GRCm39) |
D100G |
probably benign |
Het |
Epm2a |
G |
A |
10: 11,332,980 (GRCm39) |
R271H |
probably damaging |
Het |
Fem1c |
G |
T |
18: 46,638,781 (GRCm39) |
T407K |
probably benign |
Het |
Fer1l4 |
T |
C |
2: 155,889,848 (GRCm39) |
Y273C |
probably damaging |
Het |
Foxc2 |
C |
A |
8: 121,844,576 (GRCm39) |
A408E |
probably benign |
Het |
Gbp10 |
A |
T |
5: 105,366,368 (GRCm39) |
M512K |
possibly damaging |
Het |
Gm5134 |
T |
C |
10: 75,828,323 (GRCm39) |
L301P |
probably damaging |
Het |
Grk3 |
A |
T |
5: 113,117,100 (GRCm39) |
D100E |
probably benign |
Het |
Gsdma3 |
T |
A |
11: 98,526,707 (GRCm39) |
D322E |
probably damaging |
Het |
Gucy1a2 |
C |
A |
9: 3,894,556 (GRCm39) |
L680I |
possibly damaging |
Het |
Ighv7-2 |
T |
C |
12: 113,875,766 (GRCm39) |
Y79C |
probably damaging |
Het |
Igkv4-50 |
T |
C |
6: 69,678,024 (GRCm39) |
T27A |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,106,404 (GRCm39) |
D1002G |
probably damaging |
Het |
Map4k5 |
T |
A |
12: 69,896,358 (GRCm39) |
I169F |
possibly damaging |
Het |
Mink1 |
T |
C |
11: 70,488,052 (GRCm39) |
V39A |
probably damaging |
Het |
Mms22l |
T |
A |
4: 24,508,482 (GRCm39) |
H301Q |
probably benign |
Het |
Myh4 |
C |
T |
11: 67,147,305 (GRCm39) |
T1650I |
probably benign |
Het |
Or52n4 |
A |
T |
7: 104,293,870 (GRCm39) |
D234E |
probably benign |
Het |
Or8b37 |
T |
A |
9: 37,958,662 (GRCm39) |
L48Q |
probably damaging |
Het |
Or8b44 |
T |
C |
9: 38,410,769 (GRCm39) |
M268T |
probably benign |
Het |
Pate10 |
T |
C |
9: 35,653,460 (GRCm39) |
I88T |
possibly damaging |
Het |
Pbxip1 |
C |
T |
3: 89,350,988 (GRCm39) |
T117M |
probably damaging |
Het |
Pgghg |
C |
T |
7: 140,526,251 (GRCm39) |
T572M |
probably damaging |
Het |
Phactr2 |
G |
A |
10: 13,121,167 (GRCm39) |
T511I |
probably damaging |
Het |
Pip5k1a |
T |
C |
3: 94,974,724 (GRCm39) |
I385V |
probably benign |
Het |
Pwp2 |
A |
G |
10: 78,018,828 (GRCm39) |
C60R |
probably damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Rttn |
G |
T |
18: 88,991,750 (GRCm39) |
D110Y |
probably damaging |
Het |
Setbp1 |
G |
T |
18: 78,798,925 (GRCm39) |
H1418Q |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,569,608 (GRCm39) |
I37V |
probably benign |
Het |
Slc27a6 |
A |
T |
18: 58,689,977 (GRCm39) |
I148F |
probably benign |
Het |
Slmap |
A |
G |
14: 26,180,621 (GRCm39) |
|
probably benign |
Het |
Speer4a3 |
A |
C |
5: 26,156,614 (GRCm39) |
Y122D |
probably benign |
Het |
Stil |
A |
G |
4: 114,880,893 (GRCm39) |
Q479R |
possibly damaging |
Het |
Svop |
A |
G |
5: 114,166,321 (GRCm39) |
*549Q |
probably null |
Het |
Tnks |
C |
T |
8: 35,316,453 (GRCm39) |
V889I |
possibly damaging |
Het |
Tnrc6c |
T |
A |
11: 117,633,826 (GRCm39) |
V1308E |
possibly damaging |
Het |
Vmn1r208 |
C |
A |
13: 22,956,993 (GRCm39) |
C168F |
probably damaging |
Het |
Vmn2r117 |
A |
T |
17: 23,678,758 (GRCm39) |
M822K |
possibly damaging |
Het |
Vwa8 |
A |
G |
14: 79,420,552 (GRCm39) |
N1751S |
probably benign |
Het |
Vwde |
A |
T |
6: 13,187,148 (GRCm39) |
F780I |
probably damaging |
Het |
Washc2 |
T |
C |
6: 116,197,577 (GRCm39) |
I184T |
possibly damaging |
Het |
Zfp608 |
G |
A |
18: 55,031,273 (GRCm39) |
T889M |
probably damaging |
Het |
Zfp955a |
G |
T |
17: 33,463,039 (GRCm39) |
Q31K |
probably damaging |
Het |
Zpbp2 |
T |
C |
11: 98,446,343 (GRCm39) |
L145S |
probably benign |
Het |
|
Other mutations in Wdr26 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01625:Wdr26
|
APN |
1 |
181,019,381 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01941:Wdr26
|
APN |
1 |
181,038,635 (GRCm39) |
splice site |
probably benign |
|
IGL02660:Wdr26
|
APN |
1 |
181,026,463 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02685:Wdr26
|
APN |
1 |
181,011,345 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02884:Wdr26
|
APN |
1 |
181,010,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R0396:Wdr26
|
UTSW |
1 |
181,008,216 (GRCm39) |
intron |
probably benign |
|
R0453:Wdr26
|
UTSW |
1 |
181,010,444 (GRCm39) |
nonsense |
probably null |
|
R0530:Wdr26
|
UTSW |
1 |
181,013,635 (GRCm39) |
splice site |
probably null |
|
R0729:Wdr26
|
UTSW |
1 |
181,013,470 (GRCm39) |
splice site |
probably null |
|
R1170:Wdr26
|
UTSW |
1 |
181,008,859 (GRCm39) |
splice site |
probably benign |
|
R1466:Wdr26
|
UTSW |
1 |
181,013,499 (GRCm39) |
splice site |
probably benign |
|
R1830:Wdr26
|
UTSW |
1 |
181,019,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R2883:Wdr26
|
UTSW |
1 |
181,038,685 (GRCm39) |
missense |
probably damaging |
0.99 |
R4090:Wdr26
|
UTSW |
1 |
181,030,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R4097:Wdr26
|
UTSW |
1 |
181,010,352 (GRCm39) |
missense |
probably benign |
0.00 |
R4953:Wdr26
|
UTSW |
1 |
181,025,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R5223:Wdr26
|
UTSW |
1 |
181,015,251 (GRCm39) |
missense |
probably benign |
0.07 |
R5834:Wdr26
|
UTSW |
1 |
181,030,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R5884:Wdr26
|
UTSW |
1 |
181,015,106 (GRCm39) |
intron |
probably benign |
|
R6174:Wdr26
|
UTSW |
1 |
181,019,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R6334:Wdr26
|
UTSW |
1 |
181,030,771 (GRCm39) |
|
|
|
R7161:Wdr26
|
UTSW |
1 |
181,030,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R7255:Wdr26
|
UTSW |
1 |
181,008,889 (GRCm39) |
missense |
probably benign |
0.24 |
R7406:Wdr26
|
UTSW |
1 |
181,015,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R7804:Wdr26
|
UTSW |
1 |
181,010,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R7815:Wdr26
|
UTSW |
1 |
181,036,638 (GRCm39) |
missense |
probably benign |
0.28 |
R8717:Wdr26
|
UTSW |
1 |
181,011,913 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9072:Wdr26
|
UTSW |
1 |
181,010,351 (GRCm39) |
missense |
probably damaging |
0.99 |
R9358:Wdr26
|
UTSW |
1 |
181,019,423 (GRCm39) |
missense |
probably damaging |
0.98 |
R9520:Wdr26
|
UTSW |
1 |
181,036,587 (GRCm39) |
missense |
probably benign |
0.06 |
R9523:Wdr26
|
UTSW |
1 |
181,013,620 (GRCm39) |
missense |
probably benign |
0.38 |
R9719:Wdr26
|
UTSW |
1 |
181,015,224 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9793:Wdr26
|
UTSW |
1 |
181,036,812 (GRCm39) |
missense |
probably damaging |
0.98 |
R9795:Wdr26
|
UTSW |
1 |
181,036,812 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2015-04-16 |