Incidental Mutation 'IGL03051:Wdr74'
| ID |
409076 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr74
|
| Ensembl Gene |
ENSMUSG00000042729 |
| Gene Name |
WD repeat domain 74 |
| Synonyms |
5730436H21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
IGL03051
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
8713191-8717988 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 8716875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010254]
[ENSMUST00000049424]
[ENSMUST00000073430]
[ENSMUST00000163172]
[ENSMUST00000175872]
[ENSMUST00000175901]
[ENSMUST00000210592]
[ENSMUST00000210512]
[ENSMUST00000177373]
[ENSMUST00000176314]
[ENSMUST00000176381]
[ENSMUST00000177322]
[ENSMUST00000176013]
|
| AlphaFold |
Q8VCG3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010254
|
| SMART Domains |
Protein: ENSMUSP00000010254
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:Syntaxin-5_N
|
52 |
74 |
1.5e-15 |
PFAM |
|
SCOP:d1fioa_
|
92 |
298 |
7e-36 |
SMART |
|
Blast:t_SNARE
|
258 |
304 |
9e-22 |
BLAST |
|
low complexity region
|
346 |
376 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049424
|
| SMART Domains |
Protein: ENSMUSP00000043315
Gene: ENSMUSG00000042729
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
32 |
71 |
9.94e-1 |
SMART |
|
Blast:WD40
|
76 |
113 |
1e-16 |
BLAST |
|
WD40
|
120 |
159 |
1.85e0 |
SMART |
|
Blast:WD40
|
175 |
211 |
2e-16 |
BLAST |
|
Blast:WD40
|
214 |
255 |
2e-14 |
BLAST |
|
WD40
|
258 |
297 |
2.8e-3 |
SMART |
|
low complexity region
|
326 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073430
|
| SMART Domains |
Protein: ENSMUSP00000073136
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:Syntaxin
|
90 |
194 |
1e-15 |
PFAM |
|
t_SNARE
|
258 |
325 |
4.33e-15 |
SMART |
|
transmembrane domain
|
334 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175642
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175872
|
| SMART Domains |
Protein: ENSMUSP00000135416
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:Syntaxin
|
90 |
194 |
2.7e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175901
|
| SMART Domains |
Protein: ENSMUSP00000134951
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:Syntaxin
|
90 |
194 |
4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210592
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176093
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177373
|
| SMART Domains |
Protein: ENSMUSP00000134794
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Syntaxin
|
1 |
98 |
5.2e-15 |
PFAM |
|
t_SNARE
|
162 |
229 |
4.33e-15 |
SMART |
|
transmembrane domain
|
238 |
257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176314
|
| SMART Domains |
Protein: ENSMUSP00000135348
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176381
|
| SMART Domains |
Protein: ENSMUSP00000134854
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:Syntaxin
|
90 |
194 |
1e-15 |
PFAM |
|
t_SNARE
|
258 |
325 |
4.33e-15 |
SMART |
|
transmembrane domain
|
334 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177322
|
| SMART Domains |
Protein: ENSMUSP00000135624
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176013
|
| SMART Domains |
Protein: ENSMUSP00000135465
Gene: ENSMUSG00000010110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
Pfam:Syntaxin
|
90 |
143 |
3e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
T |
6: 86,964,283 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
A |
T |
9: 106,321,128 (GRCm39) |
F76I |
possibly damaging |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,260,233 (GRCm39) |
C149* |
probably null |
Het |
| Appbp2 |
A |
T |
11: 85,082,565 (GRCm39) |
D555E |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,472,896 (GRCm39) |
Q87R |
probably null |
Het |
| Baz1b |
T |
A |
5: 135,246,079 (GRCm39) |
N509K |
probably benign |
Het |
| Ccn4 |
T |
A |
15: 66,778,399 (GRCm39) |
C73* |
probably null |
Het |
| Ces5a |
C |
A |
8: 94,255,226 (GRCm39) |
G156C |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,939,938 (GRCm39) |
R723W |
probably damaging |
Het |
| Clec4e |
A |
G |
6: 123,266,692 (GRCm39) |
S6P |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,769,696 (GRCm39) |
I468V |
probably damaging |
Het |
| Epb41l4a |
A |
T |
18: 34,007,825 (GRCm39) |
Y233N |
probably damaging |
Het |
| Fam210b |
C |
T |
2: 172,194,612 (GRCm39) |
H155Y |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,272,943 (GRCm39) |
C770* |
probably null |
Het |
| Gpa33 |
A |
G |
1: 165,992,790 (GRCm39) |
H301R |
probably benign |
Het |
| Gpr39 |
T |
A |
1: 125,605,485 (GRCm39) |
C138S |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,271,768 (GRCm39) |
K858* |
probably null |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,576 (GRCm39) |
|
probably benign |
Het |
| Iglv1 |
T |
C |
16: 18,903,973 (GRCm39) |
T49A |
possibly damaging |
Het |
| Kif17 |
A |
C |
4: 138,016,565 (GRCm39) |
D416A |
probably damaging |
Het |
| Mib2 |
T |
C |
4: 155,741,747 (GRCm39) |
T431A |
probably damaging |
Het |
| Mpz |
G |
A |
1: 170,986,380 (GRCm39) |
R98H |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,606,522 (GRCm39) |
E337G |
probably benign |
Het |
| Odam |
G |
A |
5: 88,040,335 (GRCm39) |
|
probably benign |
Het |
| Or1e1f |
T |
A |
11: 73,855,860 (GRCm39) |
L142H |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,056,805 (GRCm39) |
|
probably benign |
Het |
| Pcdh7 |
T |
G |
5: 58,286,415 (GRCm39) |
S1164A |
probably damaging |
Het |
| Pkp4 |
G |
T |
2: 59,142,106 (GRCm39) |
A470S |
probably benign |
Het |
| Plin4 |
A |
T |
17: 56,412,417 (GRCm39) |
M538K |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,212,889 (GRCm39) |
V624A |
probably damaging |
Het |
| Rps6ka5 |
A |
C |
12: 100,582,250 (GRCm39) |
|
probably null |
Het |
| Simc1 |
T |
C |
13: 54,674,036 (GRCm39) |
S795P |
probably benign |
Het |
| Slc35b4 |
A |
T |
6: 34,137,406 (GRCm39) |
|
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Syt14 |
T |
C |
1: 192,615,528 (GRCm39) |
N486S |
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,944,206 (GRCm39) |
N378S |
probably benign |
Het |
| Wdr17 |
T |
A |
8: 55,104,349 (GRCm39) |
D908V |
probably damaging |
Het |
|
| Other mutations in Wdr74 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Wdr74
|
APN |
19 |
8,716,830 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01832:Wdr74
|
APN |
19 |
8,717,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1456:Wdr74
|
UTSW |
19 |
8,717,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1481:Wdr74
|
UTSW |
19 |
8,715,592 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1932:Wdr74
|
UTSW |
19 |
8,715,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4876:Wdr74
|
UTSW |
19 |
8,716,849 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5643:Wdr74
|
UTSW |
19 |
8,715,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Wdr74
|
UTSW |
19 |
8,715,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5927:Wdr74
|
UTSW |
19 |
8,717,197 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6352:Wdr74
|
UTSW |
19 |
8,716,822 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6735:Wdr74
|
UTSW |
19 |
8,713,586 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7516:Wdr74
|
UTSW |
19 |
8,713,554 (GRCm39) |
nonsense |
probably null |
|
|
R8510:Wdr74
|
UTSW |
19 |
8,715,274 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9086:Wdr74
|
UTSW |
19 |
8,713,358 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9193:Wdr74
|
UTSW |
19 |
8,715,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Wdr74
|
UTSW |
19 |
8,716,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation