Incidental Mutation 'R5311:Wdsub1'
| ID |
500906 |
| 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 |
042894-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R5311 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
59682708-59712935 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
T to A
at 59708873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028368]
[ENSMUST00000102751]
[ENSMUST00000128671]
[ENSMUST00000133809]
[ENSMUST00000140475]
|
| 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 |
probably benign
Transcript: ENSMUST00000128671
|
| SMART Domains |
Protein: ENSMUSP00000121242
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 |
|
Blast:WD40
|
169 |
194 |
1e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133809
|
| SMART Domains |
Protein: ENSMUSP00000114814
Gene: ENSMUSG00000026988
| 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 |
probably benign
Transcript: ENSMUST00000140475
|
| SMART Domains |
Protein: ENSMUSP00000114811
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 |
|
Blast:WD40
|
169 |
194 |
1e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140852
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
A |
G |
5: 142,453,442 (GRCm39) |
K137E |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,429,923 (GRCm39) |
V371G |
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 29,068,987 (GRCm39) |
Y247H |
probably damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,917,556 (GRCm39) |
V927A |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Edar |
G |
A |
10: 58,443,257 (GRCm39) |
P290S |
possibly damaging |
Het |
| Ext2 |
T |
C |
2: 93,526,606 (GRCm39) |
I677V |
probably benign |
Het |
| Fam53a |
A |
G |
5: 33,765,080 (GRCm39) |
S209P |
probably damaging |
Het |
| Fshr |
A |
T |
17: 89,318,441 (GRCm39) |
|
probably null |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Gm14295 |
A |
T |
2: 176,502,465 (GRCm39) |
I652L |
probably benign |
Het |
| Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
T |
A |
11: 48,779,716 (GRCm39) |
E402V |
probably damaging |
Het |
| Gm6899 |
GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC |
GGAGGCCGCCCAGTGGCAGAGGC |
11: 26,543,725 (GRCm39) |
|
probably null |
Het |
| Itih2 |
T |
C |
2: 10,115,346 (GRCm39) |
D342G |
probably benign |
Het |
| Lgi2 |
A |
T |
5: 52,711,827 (GRCm39) |
D164E |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,050,448 (GRCm39) |
I768T |
probably damaging |
Het |
| Map1a |
C |
A |
2: 121,132,868 (GRCm39) |
A990E |
probably damaging |
Het |
| Mdh1b |
A |
G |
1: 63,759,163 (GRCm39) |
V143A |
probably benign |
Het |
| Mrgprb3 |
C |
T |
7: 48,293,059 (GRCm39) |
C164Y |
probably damaging |
Het |
| Mtpap |
T |
A |
18: 4,386,328 (GRCm39) |
V316E |
probably damaging |
Het |
| Mybpc3 |
T |
A |
2: 90,959,023 (GRCm39) |
C655* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,986,204 (GRCm39) |
E1558G |
possibly damaging |
Het |
| Mylk |
A |
G |
16: 34,742,127 (GRCm39) |
T880A |
probably benign |
Het |
| Nckap1 |
T |
A |
2: 80,370,466 (GRCm39) |
D408V |
probably damaging |
Het |
| Nos3 |
A |
T |
5: 24,582,343 (GRCm39) |
H605L |
probably benign |
Het |
| Nrxn2 |
C |
A |
19: 6,581,428 (GRCm39) |
D411E |
probably benign |
Het |
| Or1af1 |
T |
C |
2: 37,109,633 (GRCm39) |
V44A |
probably benign |
Het |
| Or8j3b |
T |
A |
2: 86,205,094 (GRCm39) |
I221L |
possibly damaging |
Het |
| Pde4d |
C |
A |
13: 109,769,398 (GRCm39) |
P29T |
probably benign |
Het |
| Pde4d |
C |
T |
13: 109,769,399 (GRCm39) |
P29L |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,636,094 (GRCm39) |
V412A |
possibly damaging |
Het |
| Rev1 |
T |
A |
1: 38,118,474 (GRCm39) |
I480L |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,028,708 (GRCm39) |
T711A |
probably benign |
Het |
| RP23-191E1.1 |
T |
A |
3: 106,204,784 (GRCm39) |
|
noncoding transcript |
Het |
| Serpina11 |
A |
T |
12: 103,952,221 (GRCm39) |
I183N |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,921,236 (GRCm39) |
H645R |
probably damaging |
Het |
| Skint7 |
G |
A |
4: 111,837,501 (GRCm39) |
R93H |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,894,910 (GRCm39) |
E632G |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Trps1 |
G |
A |
15: 50,528,156 (GRCm39) |
T658I |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,438,691 (GRCm39) |
T287A |
probably damaging |
Het |
| Ugt2b35 |
G |
A |
5: 87,159,139 (GRCm39) |
W444* |
probably null |
Het |
| Vmn1r219 |
T |
A |
13: 23,347,063 (GRCm39) |
V84D |
probably damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,154,121 (GRCm39) |
Y61C |
probably damaging |
Het |
| Vmn2r104 |
G |
A |
17: 20,250,163 (GRCm39) |
P703S |
probably damaging |
Het |
| Zfp667 |
A |
G |
7: 6,308,715 (GRCm39) |
Q461R |
probably benign |
Het |
| Zfp941 |
C |
A |
7: 140,391,872 (GRCm39) |
G496* |
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 |
|
|
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 |
|
R6638:Wdsub1
|
UTSW |
2 |
59,700,785 (GRCm39) |
intron |
probably benign |
|
|
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'- GCATAGGTGTGGAACTTCAGC -3'
(R):5'- TGGTGGAGGGATCATCTGATAC -3'
Sequencing Primer
(F):5'- ACTTCAGCGGGGAGTACG -3'
(R):5'- GACTTTAATAGGTCTGAGGTAAAGC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation