Incidental Mutation 'R4097:Wdr26'
ID |
317150 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr26
|
Ensembl Gene |
ENSMUSG00000038733 |
Gene Name |
WD repeat domain 26 |
Synonyms |
Gid7, 1600024A01Rik |
MMRRC Submission |
040984-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.915)
|
Stock # |
R4097 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
181000793-181039566 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 181010352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 550
(I550V)
|
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 |
unknown
Transcript: ENSMUST00000159290
AA Change: I42V
|
SMART Domains |
Protein: ENSMUSP00000123863 Gene: ENSMUSG00000038733 AA Change: I42V
Domain | Start | End | E-Value | Type |
WD40
|
14 |
56 |
2.77e-1 |
SMART |
WD40
|
59 |
99 |
3.83e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159625
|
Predicted Effect |
unknown
Transcript: ENSMUST00000159673
AA Change: I69V
|
SMART Domains |
Protein: ENSMUSP00000125023 Gene: ENSMUSG00000038733 AA Change: I69V
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
AA Change: I566V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000124592 Gene: ENSMUSG00000038733 AA Change: I566V
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
AA Change: I550V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000124186 Gene: ENSMUSG00000038733 AA Change: I550V
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 |
|
Meta Mutation Damage Score |
0.0696 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.1%
|
Validation Efficiency |
100% (48/48) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l2 |
A |
G |
10: 83,348,228 (GRCm39) |
F292L |
probably damaging |
Het |
Ankrd36 |
A |
G |
11: 5,578,703 (GRCm39) |
D664G |
possibly damaging |
Het |
Bbs1 |
T |
A |
19: 4,947,345 (GRCm39) |
Y358F |
probably damaging |
Het |
Becn1 |
C |
T |
11: 101,185,092 (GRCm39) |
|
probably benign |
Het |
Cenpp |
A |
T |
13: 49,647,265 (GRCm39) |
N47I |
possibly damaging |
Het |
Clec4n |
A |
T |
6: 123,207,700 (GRCm39) |
H55L |
possibly damaging |
Het |
Cntnap4 |
A |
G |
8: 113,478,939 (GRCm39) |
I222V |
probably benign |
Het |
Cttnbp2 |
T |
C |
6: 18,420,871 (GRCm39) |
E370G |
probably benign |
Het |
Cyp4a10 |
T |
A |
4: 115,386,480 (GRCm39) |
V413E |
probably damaging |
Het |
Dctn2 |
C |
T |
10: 127,113,362 (GRCm39) |
L249F |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,881,285 (GRCm39) |
S146G |
probably damaging |
Het |
Dzip3 |
A |
T |
16: 48,778,852 (GRCm39) |
L315* |
probably null |
Het |
Evpl |
T |
C |
11: 116,114,003 (GRCm39) |
E1229G |
possibly damaging |
Het |
Ice2 |
T |
C |
9: 69,328,953 (GRCm39) |
V775A |
possibly damaging |
Het |
Jmjd1c |
A |
G |
10: 67,054,787 (GRCm39) |
E69G |
probably benign |
Het |
Lrrc66 |
T |
A |
5: 73,765,047 (GRCm39) |
R665S |
possibly damaging |
Het |
Mpdz |
T |
A |
4: 81,253,937 (GRCm39) |
H1065L |
probably damaging |
Het |
Nrf1 |
C |
T |
6: 30,151,671 (GRCm39) |
Q503* |
probably null |
Het |
Nt5dc3 |
G |
A |
10: 86,669,820 (GRCm39) |
A472T |
probably benign |
Het |
Oprk1 |
T |
A |
1: 5,673,034 (GRCm39) |
|
probably benign |
Het |
Or7g17 |
T |
C |
9: 18,767,933 (GRCm39) |
I4T |
probably benign |
Het |
Or9g3 |
T |
C |
2: 85,590,040 (GRCm39) |
I227V |
possibly damaging |
Het |
Pramel6 |
T |
G |
2: 87,339,697 (GRCm39) |
F154V |
probably benign |
Het |
Ralb |
T |
C |
1: 119,411,228 (GRCm39) |
D37G |
probably benign |
Het |
Ranbp9 |
A |
T |
13: 43,574,733 (GRCm39) |
Y412N |
probably damaging |
Het |
Scg2 |
T |
A |
1: 79,413,538 (GRCm39) |
D395V |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Serpine3 |
T |
A |
14: 62,908,395 (GRCm39) |
L141Q |
probably damaging |
Het |
Sgpl1 |
C |
T |
10: 60,939,017 (GRCm39) |
G394D |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,412,951 (GRCm39) |
Y44C |
probably damaging |
Het |
Slc6a20b |
A |
G |
9: 123,441,822 (GRCm39) |
|
probably benign |
Het |
Snapc5 |
T |
C |
9: 64,087,809 (GRCm39) |
I40T |
probably damaging |
Het |
Spopl |
T |
C |
2: 23,401,413 (GRCm39) |
H365R |
probably benign |
Het |
Stil |
T |
A |
4: 114,880,797 (GRCm39) |
I447N |
probably benign |
Het |
Taf3 |
C |
A |
2: 9,957,178 (GRCm39) |
V330F |
possibly damaging |
Het |
Tgoln1 |
T |
C |
6: 72,592,784 (GRCm39) |
E232G |
probably damaging |
Het |
Thrap3 |
A |
G |
4: 126,065,595 (GRCm39) |
L729P |
probably damaging |
Het |
Tmem269 |
A |
T |
4: 119,062,977 (GRCm39) |
F220Y |
probably damaging |
Het |
Tnrc18 |
ATCTTCC |
A |
5: 142,759,561 (GRCm39) |
|
probably benign |
Het |
Ubxn6 |
T |
C |
17: 56,376,712 (GRCm39) |
T227A |
probably benign |
Het |
Wdr17 |
C |
A |
8: 55,088,504 (GRCm39) |
R1182I |
probably damaging |
Het |
Wdr43 |
A |
G |
17: 71,964,532 (GRCm39) |
N637S |
probably benign |
Het |
Zfp516 |
A |
G |
18: 83,005,381 (GRCm39) |
T762A |
possibly damaging |
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 |
|
IGL02612:Wdr26
|
APN |
1 |
181,005,361 (GRCm39) |
utr 3 prime |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTGGGTTCCATCACCAAC -3'
(R):5'- ACTGCTAGGGCTACAGAGTTGAG -3'
Sequencing Primer
(F):5'- TTGGGTTCCATCACCAACAATAC -3'
(R):5'- TGAGCTGTCTCAGAAAACAGC -3'
|
Posted On |
2015-05-15 |