Incidental Mutation 'R6638:Wdsub1'
ID |
525568 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdsub1
|
Ensembl Gene |
ENSMUSG00000026988 |
Gene Name |
WD repeat, SAM and U-box domain containing 1 |
Synonyms |
2610014F08Rik, 1700048E19Rik |
MMRRC Submission |
044759-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R6638 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
59682708-59712935 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 59700785 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028368]
[ENSMUST00000102751]
[ENSMUST00000133809]
|
AlphaFold |
Q9D0I6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028368
|
SMART Domains |
Protein: ENSMUSP00000028368 Gene: ENSMUSG00000026988
Domain | Start | End | E-Value | Type |
WD40
|
1 |
38 |
7.85e-7 |
SMART |
WD40
|
43 |
82 |
1.96e-7 |
SMART |
WD40
|
85 |
125 |
5.47e-6 |
SMART |
WD40
|
128 |
167 |
1.5e-3 |
SMART |
WD40
|
169 |
217 |
2.48e-4 |
SMART |
WD40
|
227 |
266 |
4.91e-8 |
SMART |
WD40
|
269 |
308 |
7.05e-9 |
SMART |
SAM
|
327 |
394 |
1.12e-15 |
SMART |
Ubox
|
405 |
468 |
1.69e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102751
|
SMART Domains |
Protein: ENSMUSP00000099812 Gene: ENSMUSG00000026988
Domain | Start | End | E-Value | Type |
WD40
|
1 |
38 |
7.85e-7 |
SMART |
WD40
|
43 |
82 |
1.96e-7 |
SMART |
WD40
|
85 |
125 |
5.47e-6 |
SMART |
WD40
|
128 |
167 |
1.5e-3 |
SMART |
WD40
|
169 |
217 |
2.48e-4 |
SMART |
WD40
|
227 |
266 |
4.91e-8 |
SMART |
WD40
|
269 |
308 |
7.05e-9 |
SMART |
SAM
|
327 |
394 |
1.12e-15 |
SMART |
Pfam:U-box
|
402 |
423 |
9.3e-10 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000133809
AA Change: L150H
|
SMART Domains |
Protein: ENSMUSP00000114814 Gene: ENSMUSG00000026988 AA Change: L150H
Domain | Start | End | E-Value | Type |
WD40
|
7 |
46 |
1.5e-3 |
SMART |
WD40
|
48 |
96 |
2.48e-4 |
SMART |
WD40
|
106 |
145 |
6e-3 |
SMART |
low complexity region
|
163 |
175 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139689
|
SMART Domains |
Protein: ENSMUSP00000121438 Gene: ENSMUSG00000026988
Domain | Start | End | E-Value | Type |
WD40
|
1 |
32 |
4.28e0 |
SMART |
WD40
|
34 |
82 |
2.48e-4 |
SMART |
WD40
|
92 |
131 |
4.91e-8 |
SMART |
WD40
|
134 |
173 |
7.05e-9 |
SMART |
Pfam:SAM_2
|
193 |
241 |
5.3e-10 |
PFAM |
Pfam:SAM_1
|
194 |
241 |
2.4e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140852
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144343
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,451,521 (GRCm39) |
N868K |
probably benign |
Het |
Cep112 |
T |
C |
11: 108,746,696 (GRCm39) |
S980P |
probably damaging |
Het |
Dlk1 |
A |
G |
12: 109,426,204 (GRCm39) |
E95G |
probably damaging |
Het |
Dnah6 |
A |
T |
6: 73,012,263 (GRCm39) |
|
probably null |
Het |
Dppa2 |
A |
T |
16: 48,134,523 (GRCm39) |
H118L |
possibly damaging |
Het |
Eif4enif1 |
T |
C |
11: 3,192,463 (GRCm39) |
S740P |
probably damaging |
Het |
Eva1b |
T |
C |
4: 126,043,265 (GRCm39) |
S102P |
probably benign |
Het |
Fndc3a |
G |
A |
14: 72,796,688 (GRCm39) |
R637* |
probably null |
Het |
Fras1 |
A |
T |
5: 96,905,953 (GRCm39) |
D3119V |
possibly damaging |
Het |
Hmgcr |
T |
C |
13: 96,795,490 (GRCm39) |
T360A |
probably benign |
Het |
Kif21a |
A |
G |
15: 90,850,610 (GRCm39) |
V1017A |
probably damaging |
Het |
Lats2 |
A |
G |
14: 57,936,822 (GRCm39) |
S556P |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,840,940 (GRCm39) |
F1366S |
probably benign |
Het |
Mtmr2 |
C |
A |
9: 13,707,429 (GRCm39) |
A327E |
probably damaging |
Het |
Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
Or9r3 |
T |
C |
10: 129,947,739 (GRCm39) |
T307A |
probably benign |
Het |
Ovch2 |
A |
T |
7: 107,388,301 (GRCm39) |
H426Q |
probably benign |
Het |
Plxna1 |
A |
T |
6: 89,301,382 (GRCm39) |
V1506E |
probably damaging |
Het |
Poldip3 |
A |
T |
15: 83,017,401 (GRCm39) |
S225T |
probably damaging |
Het |
Polr3h |
A |
G |
15: 81,802,505 (GRCm39) |
L108P |
possibly damaging |
Het |
Prss44 |
G |
A |
9: 110,646,271 (GRCm39) |
V333M |
probably damaging |
Het |
Ptprk |
C |
T |
10: 28,471,807 (GRCm39) |
R1432C |
probably damaging |
Het |
Rpl36al |
A |
G |
12: 69,229,708 (GRCm39) |
L68P |
probably damaging |
Het |
Tagap |
T |
C |
17: 8,145,906 (GRCm39) |
S26P |
possibly damaging |
Het |
Vapb |
A |
G |
2: 173,613,362 (GRCm39) |
K87R |
probably damaging |
Het |
Vmn1r35 |
G |
A |
6: 66,655,848 (GRCm39) |
T274I |
possibly damaging |
Het |
Xrcc5 |
C |
T |
1: 72,422,521 (GRCm39) |
S651L |
possibly damaging |
Het |
Zfyve27 |
T |
A |
19: 42,169,936 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Wdsub1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02211:Wdsub1
|
APN |
2 |
59,689,080 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02887:Wdsub1
|
APN |
2 |
59,683,176 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02984:Wdsub1
|
UTSW |
2 |
59,707,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R0116:Wdsub1
|
UTSW |
2 |
59,707,009 (GRCm39) |
splice site |
probably null |
|
R0504:Wdsub1
|
UTSW |
2 |
59,708,669 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1437:Wdsub1
|
UTSW |
2 |
59,708,477 (GRCm39) |
missense |
probably damaging |
0.98 |
R1452:Wdsub1
|
UTSW |
2 |
59,707,144 (GRCm39) |
missense |
probably null |
|
R1566:Wdsub1
|
UTSW |
2 |
59,707,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R1767:Wdsub1
|
UTSW |
2 |
59,689,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R2938:Wdsub1
|
UTSW |
2 |
59,703,630 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4209:Wdsub1
|
UTSW |
2 |
59,707,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R4583:Wdsub1
|
UTSW |
2 |
59,708,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R4794:Wdsub1
|
UTSW |
2 |
59,693,188 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4803:Wdsub1
|
UTSW |
2 |
59,700,743 (GRCm39) |
intron |
probably benign |
|
R4987:Wdsub1
|
UTSW |
2 |
59,700,737 (GRCm39) |
intron |
probably benign |
|
R4989:Wdsub1
|
UTSW |
2 |
59,700,758 (GRCm39) |
intron |
probably benign |
|
R5311:Wdsub1
|
UTSW |
2 |
59,708,873 (GRCm39) |
utr 5 prime |
probably benign |
|
R5402:Wdsub1
|
UTSW |
2 |
59,700,822 (GRCm39) |
missense |
probably benign |
|
R5408:Wdsub1
|
UTSW |
2 |
59,691,887 (GRCm39) |
unclassified |
probably benign |
|
R5572:Wdsub1
|
UTSW |
2 |
59,693,051 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5681:Wdsub1
|
UTSW |
2 |
59,683,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R5864:Wdsub1
|
UTSW |
2 |
59,708,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R6582:Wdsub1
|
UTSW |
2 |
59,708,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R6678:Wdsub1
|
UTSW |
2 |
59,692,975 (GRCm39) |
missense |
probably benign |
0.45 |
R6842:Wdsub1
|
UTSW |
2 |
59,708,532 (GRCm39) |
missense |
probably benign |
0.09 |
R6907:Wdsub1
|
UTSW |
2 |
59,692,028 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7041:Wdsub1
|
UTSW |
2 |
59,683,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R7288:Wdsub1
|
UTSW |
2 |
59,708,487 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7769:Wdsub1
|
UTSW |
2 |
59,708,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R7942:Wdsub1
|
UTSW |
2 |
59,707,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R8291:Wdsub1
|
UTSW |
2 |
59,693,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R8309:Wdsub1
|
UTSW |
2 |
59,704,578 (GRCm39) |
unclassified |
probably benign |
|
R8458:Wdsub1
|
UTSW |
2 |
59,692,045 (GRCm39) |
missense |
probably benign |
0.00 |
R8775:Wdsub1
|
UTSW |
2 |
59,693,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R8775-TAIL:Wdsub1
|
UTSW |
2 |
59,693,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R8997:Wdsub1
|
UTSW |
2 |
59,688,977 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Wdsub1
|
UTSW |
2 |
59,707,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTTATGACCCTCCTGG -3'
(R):5'- CACTATGGCCAGAAAAGCTTTC -3'
Sequencing Primer
(F):5'- ATTTCTGAGTTCGAGGCCAGCC -3'
(R):5'- CTGAGAAAATTCATCCGTTTGCC -3'
|
Posted On |
2018-06-22 |