Incidental Mutation 'R6854:Vsig10'
| ID |
535141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vsig10
|
| Ensembl Gene |
ENSMUSG00000066894 |
| Gene Name |
V-set and immunoglobulin domain containing 10 |
| Synonyms |
|
| MMRRC Submission |
044957-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6854 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
117457331-117493071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 117476472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 309
(V309I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086464]
[ENSMUST00000111967]
|
| AlphaFold |
D3YX43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086464
AA Change: V282I
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
AA Change: V282I
| 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 benign
Transcript: ENSMUST00000111967
AA Change: V309I
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
AA Change: V309I
| 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: 98.6%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
All alleles(11) : Gene trapped(11) |
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,992,599 (GRCm39) |
S4628P |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,390,920 (GRCm39) |
R735H |
possibly damaging |
Het |
| Atp4a |
T |
C |
7: 30,414,433 (GRCm39) |
V152A |
probably benign |
Het |
| BC035947 |
G |
A |
1: 78,475,125 (GRCm39) |
T469I |
probably damaging |
Het |
| Bicra |
A |
T |
7: 15,722,687 (GRCm39) |
S277T |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,881,127 (GRCm39) |
N1142K |
possibly damaging |
Het |
| Ccnd3 |
T |
C |
17: 47,889,645 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,708,995 (GRCm39) |
K79E |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,269,391 (GRCm39) |
|
probably null |
Het |
| Chd5 |
C |
A |
4: 152,467,395 (GRCm39) |
N1644K |
probably damaging |
Het |
| Flrt3 |
C |
T |
2: 140,502,638 (GRCm39) |
R330H |
probably damaging |
Het |
| Gm6034 |
T |
A |
17: 36,368,110 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,309,983 (GRCm39) |
E741G |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,004,258 (GRCm39) |
V448A |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,702,382 (GRCm39) |
R679G |
probably benign |
Het |
| Klrb1c |
A |
G |
6: 128,765,381 (GRCm39) |
S70P |
possibly damaging |
Het |
| Maml2 |
C |
T |
9: 13,617,131 (GRCm39) |
T159I |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Mycl |
G |
A |
4: 122,894,039 (GRCm39) |
D280N |
probably damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,119,259 (GRCm39) |
T12I |
possibly damaging |
Het |
| Or4f14c |
T |
C |
2: 111,940,992 (GRCm39) |
N202D |
probably benign |
Het |
| Or5h19 |
A |
C |
16: 58,856,428 (GRCm39) |
I224S |
possibly damaging |
Het |
| Palmd |
A |
G |
3: 116,717,112 (GRCm39) |
S462P |
probably benign |
Het |
| Phyhd1 |
A |
C |
2: 30,159,773 (GRCm39) |
I36L |
possibly damaging |
Het |
| Plcd1 |
T |
C |
9: 118,903,389 (GRCm39) |
|
probably null |
Het |
| Pml |
G |
C |
9: 58,127,189 (GRCm39) |
A806G |
probably damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,635,395 (GRCm39) |
A838S |
probably benign |
Het |
| Prkdc |
C |
T |
16: 15,469,402 (GRCm39) |
T169I |
probably damaging |
Het |
| Prr23a1 |
G |
T |
9: 98,724,988 (GRCm39) |
V117L |
possibly damaging |
Het |
| Pus7 |
T |
C |
5: 23,973,845 (GRCm39) |
|
silent |
Het |
| Rdh7 |
T |
C |
10: 127,724,250 (GRCm39) |
E78G |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,570,825 (GRCm39) |
|
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,430 (GRCm39) |
N921S |
possibly damaging |
Het |
| Sema4f |
A |
G |
6: 82,894,983 (GRCm39) |
L404P |
probably damaging |
Het |
| Serinc4 |
T |
A |
2: 121,287,031 (GRCm39) |
M2L |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,001,604 (GRCm39) |
V138A |
probably benign |
Het |
| Slc66a3 |
G |
A |
12: 17,049,830 (GRCm39) |
L43F |
probably damaging |
Het |
| Speer2 |
T |
A |
16: 69,655,775 (GRCm39) |
Q106L |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,650,254 (GRCm39) |
P1821L |
probably damaging |
Het |
| St3gal3 |
C |
A |
4: 117,815,727 (GRCm39) |
M107I |
probably benign |
Het |
| Tmem25 |
T |
C |
9: 44,707,305 (GRCm39) |
K265E |
possibly damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Zfp318 |
G |
GAAGAAA |
17: 46,723,468 (GRCm39) |
|
probably benign |
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 |
|
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'- AGTGGAGGTGTCTTCAGAATC -3'
(R):5'- GGCGGGCATCTTTAAACATGG -3'
Sequencing Primer
(F):5'- GAGGTGTCTTCAGAATCGACTACC -3'
(R):5'- CGGGCATCTTTAAACATGGAAGGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation