Incidental Mutation 'R6352:Wdr74'
ID |
513310 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr74
|
Ensembl Gene |
ENSMUSG00000042729 |
Gene Name |
WD repeat domain 74 |
Synonyms |
5730436H21Rik |
MMRRC Submission |
044504-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.969)
|
Stock # |
R6352 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
8713191-8717988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8716822 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 200
(V200A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147765
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010254]
[ENSMUST00000049424]
[ENSMUST00000073430]
[ENSMUST00000163172]
[ENSMUST00000175872]
[ENSMUST00000210512]
[ENSMUST00000177373]
[ENSMUST00000176013]
[ENSMUST00000176314]
[ENSMUST00000176381]
[ENSMUST00000175901]
[ENSMUST00000177322]
[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 |
probably benign
Transcript: ENSMUST00000049424
AA Change: V244A
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000043315 Gene: ENSMUSG00000042729 AA Change: V244A
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: V200A
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000187020
|
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 |
noncoding transcript
Transcript: ENSMUST00000176093
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176260
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176009
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183342
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210592
AA Change: V244A
PolyPhen 2
Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
|
Meta Mutation Damage Score |
0.1062 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
96% (48/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
C |
17: 48,347,945 (GRCm39) |
S120G |
probably benign |
Het |
Abca13 |
G |
A |
11: 9,259,139 (GRCm39) |
|
probably null |
Het |
Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
Adgra3 |
T |
A |
5: 50,136,478 (GRCm39) |
D669V |
probably benign |
Het |
Adgra3 |
T |
A |
5: 50,147,592 (GRCm39) |
M483L |
probably benign |
Het |
Ccdc42 |
T |
C |
11: 68,485,191 (GRCm39) |
V88A |
probably damaging |
Het |
Cdh16 |
G |
C |
8: 105,343,624 (GRCm39) |
S624C |
probably damaging |
Het |
Cpt1c |
A |
T |
7: 44,616,219 (GRCm39) |
|
probably null |
Het |
Cul9 |
T |
C |
17: 46,822,241 (GRCm39) |
T1795A |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,339,053 (GRCm39) |
V3098I |
probably damaging |
Het |
Fbxl16 |
T |
C |
17: 26,037,919 (GRCm39) |
L426P |
probably damaging |
Het |
Flt4 |
T |
C |
11: 49,534,333 (GRCm39) |
I1168T |
probably benign |
Het |
Fmo5 |
T |
C |
3: 97,552,991 (GRCm39) |
V313A |
probably benign |
Het |
Foxj3 |
A |
G |
4: 119,442,975 (GRCm39) |
N133S |
probably damaging |
Het |
Gbp8 |
T |
C |
5: 105,162,926 (GRCm39) |
I489M |
possibly damaging |
Het |
Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Hdgfl1 |
T |
G |
13: 26,953,733 (GRCm39) |
E113D |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,997,949 (GRCm39) |
S317T |
possibly damaging |
Het |
Hycc2 |
A |
G |
1: 58,596,471 (GRCm39) |
V38A |
probably damaging |
Het |
Insr |
C |
T |
8: 3,223,479 (GRCm39) |
|
probably null |
Het |
Iqcf5 |
A |
G |
9: 106,392,929 (GRCm39) |
E62G |
possibly damaging |
Het |
Kcnj3 |
G |
A |
2: 55,327,561 (GRCm39) |
V117I |
probably benign |
Het |
Klf9 |
T |
A |
19: 23,119,138 (GRCm39) |
M7K |
probably benign |
Het |
Mboat1 |
G |
A |
13: 30,386,403 (GRCm39) |
G139E |
possibly damaging |
Het |
Mical3 |
T |
C |
6: 120,929,434 (GRCm39) |
T1811A |
probably damaging |
Het |
Mllt10 |
A |
C |
2: 18,128,604 (GRCm39) |
K117T |
probably damaging |
Het |
Mpped1 |
A |
G |
15: 83,720,564 (GRCm39) |
D8G |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,143,108 (GRCm39) |
D1012V |
probably damaging |
Het |
Myo9b |
C |
A |
8: 71,801,054 (GRCm39) |
P1070T |
probably benign |
Het |
Myo9b |
C |
T |
8: 71,801,055 (GRCm39) |
P1071L |
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,072,527 (GRCm39) |
I439F |
probably damaging |
Het |
Nlrp9a |
T |
A |
7: 26,257,051 (GRCm39) |
I134N |
probably damaging |
Het |
Nop2 |
C |
T |
6: 125,114,170 (GRCm39) |
T212M |
probably benign |
Het |
Notch4 |
T |
C |
17: 34,786,435 (GRCm39) |
C188R |
probably damaging |
Het |
Or10q12 |
A |
T |
19: 13,745,828 (GRCm39) |
M41L |
probably benign |
Het |
Or2ag19 |
G |
T |
7: 106,444,429 (GRCm39) |
V204F |
probably damaging |
Het |
Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
Plet1 |
T |
C |
9: 50,412,407 (GRCm39) |
S142P |
probably damaging |
Het |
Ptk7 |
A |
T |
17: 46,887,816 (GRCm39) |
W539R |
probably benign |
Het |
Ptprd |
A |
T |
4: 76,009,789 (GRCm39) |
|
probably null |
Het |
Rgs22 |
T |
G |
15: 36,093,067 (GRCm39) |
Q402P |
probably damaging |
Het |
Rpl10a |
T |
C |
17: 28,549,820 (GRCm39) |
V167A |
possibly damaging |
Het |
Sdr16c5 |
A |
G |
4: 4,016,421 (GRCm39) |
S2P |
probably benign |
Het |
Slc14a2 |
T |
C |
18: 78,252,309 (GRCm39) |
M1V |
probably null |
Het |
Spta1 |
T |
A |
1: 174,039,212 (GRCm39) |
M1185K |
possibly damaging |
Het |
Syde2 |
G |
T |
3: 145,704,229 (GRCm39) |
E127* |
probably null |
Het |
Thoc2l |
A |
G |
5: 104,668,064 (GRCm39) |
E862G |
probably benign |
Het |
Ugt2b38 |
T |
A |
5: 87,571,860 (GRCm39) |
R57S |
possibly damaging |
Het |
Wdr11 |
C |
T |
7: 129,208,399 (GRCm39) |
L385F |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCCGTGTCTATGATCCAGTC -3'
(R):5'- GGCATGGGTGTTAGCTAACC -3'
Sequencing Primer
(F):5'- GTGTCTATGATCCAGTCTCCCC -3'
(R):5'- GCTAACCAGCCACTGAATATGTAG -3'
|
Posted On |
2018-04-27 |