Incidental Mutation 'IGL01832:Wdr74'
ID |
154803 |
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: 0.969)
|
Stock # |
IGL01832
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
8713191-8717988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 8717302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 299
(R299C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010254]
[ENSMUST00000049424]
[ENSMUST00000073430]
[ENSMUST00000163172]
[ENSMUST00000175872]
[ENSMUST00000210512]
[ENSMUST00000177373]
[ENSMUST00000176314]
[ENSMUST00000177322]
[ENSMUST00000176013]
[ENSMUST00000176381]
[ENSMUST00000175901]
[ENSMUST00000210592]
|
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 |
possibly damaging
Transcript: ENSMUST00000049424
AA Change: R299C
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000043315 Gene: ENSMUSG00000042729 AA Change: R299C
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 |
possibly damaging
Transcript: ENSMUST00000210512
AA Change: R255C
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183342
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176260
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176009
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176093
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187020
|
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: 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 |
|
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: 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 damaging
Transcript: ENSMUST00000210592
AA Change: R299C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap10 |
G |
A |
8: 77,985,758 (GRCm39) |
T681I |
probably benign |
Het |
Atg4b |
T |
C |
1: 93,713,626 (GRCm39) |
|
probably benign |
Het |
Atp10b |
T |
A |
11: 43,125,262 (GRCm39) |
M1076K |
probably damaging |
Het |
Atp23 |
A |
T |
10: 126,730,214 (GRCm39) |
N111K |
probably damaging |
Het |
Atxn2 |
C |
A |
5: 121,944,331 (GRCm39) |
Y72* |
probably null |
Het |
C1qtnf12 |
A |
G |
4: 156,050,323 (GRCm39) |
D220G |
probably damaging |
Het |
C2cd3 |
A |
T |
7: 100,076,421 (GRCm39) |
T1171S |
possibly damaging |
Het |
Ccdc15 |
G |
A |
9: 37,222,640 (GRCm39) |
R585W |
probably damaging |
Het |
Cep152 |
A |
C |
2: 125,460,414 (GRCm39) |
Y179* |
probably null |
Het |
Cpa2 |
T |
C |
6: 30,551,998 (GRCm39) |
S242P |
probably benign |
Het |
Ctps2 |
G |
T |
X: 161,719,699 (GRCm39) |
|
probably benign |
Het |
Cttnbp2nl |
A |
G |
3: 104,918,544 (GRCm39) |
S99P |
probably damaging |
Het |
Ddx20 |
A |
G |
3: 105,586,327 (GRCm39) |
S673P |
probably damaging |
Het |
Erbb4 |
T |
C |
1: 68,293,725 (GRCm39) |
K722R |
possibly damaging |
Het |
Ercc8 |
A |
G |
13: 108,305,993 (GRCm39) |
T123A |
probably damaging |
Het |
Ermard |
T |
C |
17: 15,280,111 (GRCm39) |
V87A |
probably damaging |
Het |
Fkbp8 |
A |
G |
8: 70,984,195 (GRCm39) |
H182R |
probably benign |
Het |
Gab2 |
T |
C |
7: 96,953,445 (GRCm39) |
L606P |
probably damaging |
Het |
Gls |
C |
T |
1: 52,207,568 (GRCm39) |
|
probably null |
Het |
Hook3 |
A |
T |
8: 26,562,393 (GRCm39) |
M224K |
possibly damaging |
Het |
Itga5 |
T |
A |
15: 103,264,376 (GRCm39) |
K298* |
probably null |
Het |
Itprid2 |
G |
A |
2: 79,481,762 (GRCm39) |
V481M |
possibly damaging |
Het |
Lrrc74a |
C |
A |
12: 86,808,488 (GRCm39) |
T422K |
probably benign |
Het |
Myh9 |
A |
C |
15: 77,675,953 (GRCm39) |
D244E |
probably benign |
Het |
Ndrg4 |
A |
G |
8: 96,439,947 (GRCm39) |
E349G |
probably damaging |
Het |
Or9m2 |
T |
A |
2: 87,820,513 (GRCm39) |
D19E |
probably benign |
Het |
Otop2 |
T |
C |
11: 115,217,769 (GRCm39) |
S202P |
probably benign |
Het |
Plppr2 |
C |
A |
9: 21,854,742 (GRCm39) |
R138S |
possibly damaging |
Het |
Prkaca |
A |
C |
8: 84,717,366 (GRCm39) |
K206N |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,370,666 (GRCm39) |
T589I |
possibly damaging |
Het |
Ptprq |
A |
G |
10: 107,401,700 (GRCm39) |
|
probably null |
Het |
Slc16a5 |
T |
C |
11: 115,355,827 (GRCm39) |
V96A |
probably benign |
Het |
Tcerg1 |
A |
G |
18: 42,707,620 (GRCm39) |
K1047E |
probably damaging |
Het |
Tinag |
T |
C |
9: 76,939,038 (GRCm39) |
K147E |
probably benign |
Het |
Urgcp |
T |
C |
11: 5,667,325 (GRCm39) |
T338A |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,765,892 (GRCm39) |
S1473L |
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 |
IGL03051:Wdr74
|
APN |
19 |
8,716,875 (GRCm39) |
splice site |
probably benign |
|
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 |
2014-02-04 |