Incidental Mutation 'R5866:Vsig10'
| ID |
454171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vsig10
|
| Ensembl Gene |
ENSMUSG00000066894 |
| Gene Name |
V-set and immunoglobulin domain containing 10 |
| Synonyms |
|
| MMRRC Submission |
044075-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5866 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
117457331-117493071 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 117490814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031309]
[ENSMUST00000086464]
[ENSMUST00000086464]
[ENSMUST00000111967]
[ENSMUST00000111967]
|
| AlphaFold |
D3YX43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031309
|
| SMART Domains |
Protein: ENSMUSP00000031309
Gene: ENSMUSG00000029364
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Blast:WD40
|
17 |
54 |
5e-17 |
BLAST |
|
WD40
|
81 |
139 |
3.57e0 |
SMART |
|
WD40
|
142 |
182 |
1.43e-9 |
SMART |
|
WD40
|
186 |
225 |
1.59e-7 |
SMART |
|
WD40
|
228 |
267 |
7.16e-10 |
SMART |
|
WD40
|
270 |
321 |
6.53e-4 |
SMART |
|
WD40
|
324 |
361 |
6.42e-1 |
SMART |
|
SOCS
|
360 |
403 |
5.56e-17 |
SMART |
|
SOCS_box
|
366 |
402 |
1.16e-6 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000086464
|
| SMART Domains |
Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
IG
|
23 |
114 |
4.03e-8 |
SMART |
|
IG
|
132 |
214 |
9.49e-5 |
SMART |
|
Pfam:Ig_2
|
215 |
300 |
2.6e-2 |
PFAM |
|
Pfam:Ig_3
|
216 |
284 |
3.5e-4 |
PFAM |
|
IGc2
|
313 |
384 |
1.12e-6 |
SMART |
|
transmembrane domain
|
403 |
425 |
N/A |
INTRINSIC |
|
coiled coil region
|
446 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000086464
|
| SMART Domains |
Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
IG
|
23 |
114 |
4.03e-8 |
SMART |
|
IG
|
132 |
214 |
9.49e-5 |
SMART |
|
Pfam:Ig_2
|
215 |
300 |
2.6e-2 |
PFAM |
|
Pfam:Ig_3
|
216 |
284 |
3.5e-4 |
PFAM |
|
IGc2
|
313 |
384 |
1.12e-6 |
SMART |
|
transmembrane domain
|
403 |
425 |
N/A |
INTRINSIC |
|
coiled coil region
|
446 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111967
|
| SMART Domains |
Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IG
|
50 |
141 |
4.03e-8 |
SMART |
|
IG
|
159 |
241 |
9.49e-5 |
SMART |
|
Blast:IG_like
|
248 |
327 |
2e-33 |
BLAST |
|
IGc2
|
340 |
411 |
1.12e-6 |
SMART |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
coiled coil region
|
473 |
508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111967
|
| SMART Domains |
Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IG
|
50 |
141 |
4.03e-8 |
SMART |
|
IG
|
159 |
241 |
9.49e-5 |
SMART |
|
Blast:IG_like
|
248 |
327 |
2e-33 |
BLAST |
|
IGc2
|
340 |
411 |
1.12e-6 |
SMART |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
coiled coil region
|
473 |
508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122416
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147182
|
| SMART Domains |
Protein: ENSMUSP00000125808
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG_like
|
1 |
41 |
3e-14 |
BLAST |
|
IGc2
|
54 |
125 |
1.12e-6 |
SMART |
|
transmembrane domain
|
144 |
166 |
N/A |
INTRINSIC |
|
coiled coil region
|
187 |
222 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9381 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.7%
|
| Validation Efficiency |
91% (51/56) |
| Allele List at MGI |
All alleles(11) : Gene trapped(11) |
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
G |
1: 120,096,814 (GRCm39) |
|
probably benign |
Het |
| A530084C06Rik |
G |
A |
13: 31,743,178 (GRCm39) |
A25V |
unknown |
Het |
| A730018C14Rik |
T |
C |
12: 112,381,472 (GRCm39) |
|
noncoding transcript |
Het |
| Aasdh |
G |
T |
5: 77,024,058 (GRCm39) |
A198E |
probably damaging |
Het |
| Abcb8 |
C |
T |
5: 24,607,101 (GRCm39) |
A328V |
probably damaging |
Het |
| Ace3 |
C |
A |
11: 105,888,330 (GRCm39) |
H347N |
probably damaging |
Het |
| Amy1 |
A |
T |
3: 113,355,569 (GRCm39) |
M302K |
possibly damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,747 (GRCm39) |
V13M |
probably null |
Het |
| Arfgef2 |
T |
A |
2: 166,678,177 (GRCm39) |
V131E |
possibly damaging |
Het |
| Arnt |
T |
A |
3: 95,398,037 (GRCm39) |
|
probably benign |
Het |
| Atl1 |
T |
C |
12: 69,972,785 (GRCm39) |
V35A |
probably damaging |
Het |
| BC061237 |
A |
T |
14: 44,738,730 (GRCm39) |
D43V |
possibly damaging |
Het |
| Cracd |
A |
G |
5: 77,005,384 (GRCm39) |
T582A |
unknown |
Het |
| Cyp4f17 |
T |
C |
17: 32,725,887 (GRCm39) |
S7P |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,393,774 (GRCm39) |
Y70C |
probably damaging |
Het |
| Defb34 |
T |
C |
8: 19,176,468 (GRCm39) |
L53P |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,518,567 (GRCm39) |
T525A |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,030,129 (GRCm39) |
|
probably benign |
Het |
| Fam83d |
T |
A |
2: 158,621,750 (GRCm39) |
|
probably null |
Het |
| Gramd2b |
A |
G |
18: 56,607,108 (GRCm39) |
D74G |
possibly damaging |
Het |
| Hax1 |
A |
G |
3: 89,903,035 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
T |
C |
17: 53,263,804 (GRCm39) |
I767T |
probably benign |
Het |
| Ldah |
G |
A |
12: 8,270,614 (GRCm39) |
V5I |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,460,560 (GRCm39) |
V1758A |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,033,967 (GRCm39) |
D363G |
probably damaging |
Het |
| Or14j6 |
C |
T |
17: 38,214,700 (GRCm39) |
R88* |
probably null |
Het |
| Pdlim7 |
T |
A |
13: 55,646,501 (GRCm39) |
D445V |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,772,203 (GRCm39) |
M1115L |
probably benign |
Het |
| Pigb |
C |
T |
9: 72,936,966 (GRCm39) |
A215T |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,799,935 (GRCm39) |
S2952C |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,051,775 (GRCm39) |
D148G |
probably damaging |
Het |
| Ppp1r36 |
T |
C |
12: 76,473,579 (GRCm39) |
F70S |
possibly damaging |
Het |
| Rad52 |
G |
A |
6: 119,889,907 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
T |
A |
9: 96,427,823 (GRCm39) |
T681S |
probably benign |
Het |
| Rel |
A |
T |
11: 23,692,724 (GRCm39) |
Y436* |
probably null |
Het |
| Sec16a |
G |
A |
2: 26,309,650 (GRCm39) |
P2119S |
probably benign |
Het |
| Sema6d |
C |
A |
2: 124,506,262 (GRCm39) |
T733K |
probably benign |
Het |
| Sf3b3 |
C |
T |
8: 111,541,266 (GRCm39) |
A950T |
probably benign |
Het |
| Slc24a5 |
T |
A |
2: 124,927,591 (GRCm39) |
F297I |
probably damaging |
Het |
| Spp2 |
A |
T |
1: 88,340,025 (GRCm39) |
D122V |
possibly damaging |
Het |
| Stap1 |
A |
G |
5: 86,225,906 (GRCm39) |
K60R |
probably benign |
Het |
| Stat1 |
A |
G |
1: 52,178,423 (GRCm39) |
K286E |
probably damaging |
Het |
| Stn1 |
T |
C |
19: 47,505,568 (GRCm39) |
T129A |
probably benign |
Het |
| Tagap |
C |
T |
17: 8,152,285 (GRCm39) |
T490I |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,637,715 (GRCm39) |
E177G |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,174,150 (GRCm39) |
L841Q |
probably damaging |
Het |
| Tmem59 |
T |
A |
4: 107,047,754 (GRCm39) |
M71K |
probably damaging |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,406 (GRCm39) |
T206I |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,608,421 (GRCm39) |
H1539Y |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,657,387 (GRCm39) |
N1794S |
probably benign |
Het |
| Zfp97 |
T |
A |
17: 17,365,087 (GRCm39) |
F195L |
possibly damaging |
Het |
|
| Other mutations in Vsig10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Vsig10
|
APN |
5 |
117,476,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00340:Vsig10
|
APN |
5 |
117,489,652 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01082:Vsig10
|
APN |
5 |
117,472,970 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01285:Vsig10
|
APN |
5 |
117,462,954 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01790:Vsig10
|
APN |
5 |
117,476,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03004:Vsig10
|
APN |
5 |
117,463,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D3080:Vsig10
|
UTSW |
5 |
117,481,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0101:Vsig10
|
UTSW |
5 |
117,473,134 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0403:Vsig10
|
UTSW |
5 |
117,476,526 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0674:Vsig10
|
UTSW |
5 |
117,481,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Vsig10
|
UTSW |
5 |
117,489,635 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1689:Vsig10
|
UTSW |
5 |
117,490,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1710:Vsig10
|
UTSW |
5 |
117,489,719 (GRCm39) |
missense |
probably benign |
|
|
R1765:Vsig10
|
UTSW |
5 |
117,456,880 (GRCm39) |
unclassified |
probably benign |
|
|
R4422:Vsig10
|
UTSW |
5 |
117,462,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4541:Vsig10
|
UTSW |
5 |
117,490,881 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4909:Vsig10
|
UTSW |
5 |
117,476,308 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4999:Vsig10
|
UTSW |
5 |
117,482,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5855:Vsig10
|
UTSW |
5 |
117,476,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6214:Vsig10
|
UTSW |
5 |
117,481,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Vsig10
|
UTSW |
5 |
117,486,361 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6505:Vsig10
|
UTSW |
5 |
117,489,824 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6854:Vsig10
|
UTSW |
5 |
117,476,472 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7121:Vsig10
|
UTSW |
5 |
117,481,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7596:Vsig10
|
UTSW |
5 |
117,472,848 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8066:Vsig10
|
UTSW |
5 |
117,489,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8335:Vsig10
|
UTSW |
5 |
117,486,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8787:Vsig10
|
UTSW |
5 |
117,472,981 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9026:Vsig10
|
UTSW |
5 |
117,476,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9257:Vsig10
|
UTSW |
5 |
117,463,131 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9386:Vsig10
|
UTSW |
5 |
117,463,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9474:Vsig10
|
UTSW |
5 |
117,463,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCATCTGTGAATGCCTAGGCAG -3'
(R):5'- GAAGAGATGCTGTGCCTGTG -3'
Sequencing Primer
(F):5'- ATCCTCAGCTACATAGTGAGTTTGG -3'
(R):5'- TGTGCTGCAGAGACCCCAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation