Incidental Mutation 'R8335:Vsig10'
| ID |
644576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vsig10
|
| Ensembl Gene |
ENSMUSG00000066894 |
| Gene Name |
V-set and immunoglobulin domain containing 10 |
| Synonyms |
|
| MMRRC Submission |
067863-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R8335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
117457331-117493071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117486435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 448
(L448P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086464]
[ENSMUST00000111967]
|
| AlphaFold |
D3YX43 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086464
AA Change: L421P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
AA Change: L421P
| 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 damaging
Transcript: ENSMUST00000111967
AA Change: L448P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
AA Change: L448P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
All alleles(11) : Gene trapped(11) |
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc47 |
C |
G |
11: 106,099,084 (GRCm39) |
E202D |
possibly damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,099,085 (GRCm39) |
E202G |
probably damaging |
Het |
| Depdc1a |
C |
A |
3: 159,228,859 (GRCm39) |
P537Q |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,084,941 (GRCm39) |
M2816K |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,481,628 (GRCm39) |
|
probably null |
Het |
| Gm6356 |
A |
G |
14: 6,971,838 (GRCm38) |
M99T |
probably benign |
Het |
| Ighv1-67 |
A |
C |
12: 115,567,744 (GRCm39) |
V56G |
probably damaging |
Het |
| Il27ra |
A |
T |
8: 84,766,130 (GRCm39) |
L218Q |
probably damaging |
Het |
| Madd |
G |
A |
2: 91,000,584 (GRCm39) |
R494C |
probably damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,500,401 (GRCm39) |
R784W |
probably damaging |
Het |
| Mttp |
C |
T |
3: 137,808,973 (GRCm39) |
D697N |
possibly damaging |
Het |
| Mug2 |
A |
T |
6: 122,017,543 (GRCm39) |
M427L |
probably benign |
Het |
| Or10ag57 |
A |
G |
2: 87,218,204 (GRCm39) |
I52V |
probably benign |
Het |
| Or13l2 |
T |
C |
3: 97,318,024 (GRCm39) |
N158D |
probably benign |
Het |
| Or4a67 |
G |
T |
2: 88,598,117 (GRCm39) |
P181T |
probably damaging |
Het |
| Or8k3b |
T |
A |
2: 86,520,512 (GRCm39) |
D269V |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,971,122 (GRCm39) |
H409R |
unknown |
Het |
| Pkp3 |
T |
C |
7: 140,667,669 (GRCm39) |
I490T |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 106,102,848 (GRCm39) |
V236L |
probably damaging |
Het |
| Pm20d2 |
T |
C |
4: 33,189,245 (GRCm39) |
S46G |
probably benign |
Het |
| Prss33 |
A |
G |
17: 24,053,569 (GRCm39) |
|
probably null |
Het |
| Ptpn3 |
A |
T |
4: 57,235,286 (GRCm39) |
L358I |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,052,096 (GRCm39) |
T758A |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,012,801 (GRCm39) |
R1212C |
probably benign |
Het |
| Sox6 |
G |
A |
7: 115,300,949 (GRCm39) |
L173F |
probably damaging |
Het |
| Spata20 |
T |
C |
11: 94,373,369 (GRCm39) |
K501E |
probably benign |
Het |
| Stat2 |
G |
A |
10: 128,112,452 (GRCm39) |
V31I |
possibly damaging |
Het |
| Synpo2 |
T |
A |
3: 122,908,183 (GRCm39) |
N378Y |
probably damaging |
Het |
| Tacr2 |
A |
T |
10: 62,100,946 (GRCm39) |
H352L |
probably benign |
Het |
| Tmem214 |
A |
G |
5: 31,029,466 (GRCm39) |
K230E |
possibly damaging |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,352 (GRCm39) |
S238P |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,946,053 (GRCm39) |
G922R |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,322,609 (GRCm39) |
|
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,707,077 (GRCm39) |
I661M |
probably benign |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,977 (GRCm39) |
M238L |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,445 (GRCm39) |
S814P |
probably damaging |
Het |
| Xpo1 |
T |
G |
11: 23,230,603 (GRCm39) |
|
probably null |
Het |
| Zfp616 |
A |
T |
11: 73,974,726 (GRCm39) |
K423* |
probably null |
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 |
|
R5866:Vsig10
|
UTSW |
5 |
117,490,814 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
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'- GCTTGGTCTGACTCTGTAAATTCTATC -3'
(R):5'- GCCCATTACTGCTCGGTCAT -3'
Sequencing Primer
(F):5'- GGGTTCTGTGGACATGAAACC -3'
(R):5'- ACTGCTCGGTCATCTTTCCAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation