Incidental Mutation 'R3422:Vsig2'
| ID |
267085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vsig2
|
| Ensembl Gene |
ENSMUSG00000001943 |
| Gene Name |
V-set and immunoglobulin domain containing 2 |
| Synonyms |
2210413P10Rik, CTX, CTM, 1190004B15Rik |
| MMRRC Submission |
040640-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R3422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
37450551-37455501 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37452775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 195
(V195I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002008]
[ENSMUST00000002011]
[ENSMUST00000065668]
[ENSMUST00000146860]
[ENSMUST00000215271]
[ENSMUST00000213699]
[ENSMUST00000215957]
[ENSMUST00000214142]
|
| AlphaFold |
Q9Z109 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002008
AA Change: V195I
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000002008
Gene: ENSMUSG00000001943
AA Change: V195I
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
41 |
124 |
4.03e-8 |
SMART |
|
IGc2
|
158 |
225 |
1.06e-7 |
SMART |
|
transmembrane domain
|
243 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002011
|
| SMART Domains |
Protein: ENSMUSP00000002011
Gene: ENSMUSG00000001946
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
IG
|
39 |
153 |
4.82e-6 |
SMART |
|
IGc2
|
168 |
234 |
1.17e-4 |
SMART |
|
transmembrane domain
|
252 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065668
|
| SMART Domains |
Protein: ENSMUSP00000070113
Gene: ENSMUSG00000053310
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
IQ
|
25 |
47 |
1.92e-3 |
SMART |
|
low complexity region
|
52 |
77 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131832
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146860
|
| SMART Domains |
Protein: ENSMUSP00000122473
Gene: ENSMUSG00000001946
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
9 |
123 |
4.82e-6 |
SMART |
|
IGc2
|
138 |
204 |
1.17e-4 |
SMART |
|
transmembrane domain
|
222 |
244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213502
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215271
AA Change: V115I
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213699
AA Change: V1I
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215710
|
| Meta Mutation Damage Score |
0.0719 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
G |
6: 34,770,900 (GRCm39) |
T132A |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,983,072 (GRCm39) |
D1452G |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,984,116 (GRCm39) |
D1800G |
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,518,686 (GRCm39) |
D51N |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,466,586 (GRCm39) |
T2117A |
possibly damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,782,292 (GRCm39) |
K216M |
probably null |
Het |
| Ccdc73 |
G |
A |
2: 104,782,293 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,400,597 (GRCm39) |
W650R |
probably damaging |
Het |
| D930048N14Rik |
T |
C |
11: 51,545,785 (GRCm39) |
*226R |
probably null |
Het |
| Grin1 |
C |
T |
2: 25,193,926 (GRCm39) |
G390D |
probably damaging |
Het |
| Ifit1bl1 |
T |
G |
19: 34,571,350 (GRCm39) |
N369T |
probably benign |
Het |
| Kcnip1 |
A |
G |
11: 33,595,594 (GRCm39) |
V43A |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,621,595 (GRCm39) |
I81N |
probably damaging |
Het |
| Me2 |
C |
T |
18: 73,924,265 (GRCm39) |
A316T |
probably damaging |
Het |
| Mgat4d |
T |
C |
8: 84,084,772 (GRCm39) |
S172P |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nmt2 |
A |
G |
2: 3,285,425 (GRCm39) |
E31G |
possibly damaging |
Het |
| Nuak2 |
A |
G |
1: 132,259,818 (GRCm39) |
D532G |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,882,536 (GRCm39) |
V63L |
possibly damaging |
Het |
| Odad2 |
T |
C |
18: 7,223,523 (GRCm39) |
|
probably benign |
Het |
| Or1e1 |
A |
G |
11: 73,245,460 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4k15b |
T |
C |
14: 50,271,997 (GRCm39) |
T288A |
possibly damaging |
Het |
| Otub1 |
C |
T |
19: 7,176,424 (GRCm39) |
D237N |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,254,738 (GRCm39) |
F416L |
probably damaging |
Het |
| Psmb2 |
T |
C |
4: 126,571,630 (GRCm39) |
M28T |
probably damaging |
Het |
| Saysd1 |
T |
A |
14: 20,132,994 (GRCm39) |
K54N |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,012,407 (GRCm39) |
V359A |
probably benign |
Het |
| Slc7a3 |
T |
A |
X: 100,124,481 (GRCm39) |
|
probably benign |
Het |
| Soat2 |
T |
C |
15: 102,065,244 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,311 (GRCm39) |
K756R |
probably benign |
Het |
| Tafa1 |
C |
A |
6: 96,626,099 (GRCm39) |
D112E |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,773 (GRCm39) |
I189V |
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,961,937 (GRCm39) |
F130S |
possibly damaging |
Het |
| Zfp91 |
G |
A |
19: 12,747,656 (GRCm39) |
A489V |
probably benign |
Het |
|
| Other mutations in Vsig2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02096:Vsig2
|
APN |
9 |
37,451,251 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03023:Vsig2
|
APN |
9 |
37,453,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Vsig2
|
UTSW |
9 |
37,453,872 (GRCm39) |
splice site |
probably benign |
|
|
R0013:Vsig2
|
UTSW |
9 |
37,453,872 (GRCm39) |
splice site |
probably benign |
|
|
R0412:Vsig2
|
UTSW |
9 |
37,453,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6917:Vsig2
|
UTSW |
9 |
37,452,745 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8155:Vsig2
|
UTSW |
9 |
37,455,329 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8290:Vsig2
|
UTSW |
9 |
37,451,264 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9524:Vsig2
|
UTSW |
9 |
37,455,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9682:Vsig2
|
UTSW |
9 |
37,451,771 (GRCm39) |
missense |
probably benign |
0.39 |
|
RF023:Vsig2
|
UTSW |
9 |
37,450,559 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCCTCCTGTGGTTTTCG -3'
(R):5'- AGTGCGAGATTGTTCCCTG -3'
Sequencing Primer
(F):5'- GTGGTTTTCGCAGTGCCCC -3'
(R):5'- TCCAGGAAGACATTTAGCTTGAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation