Incidental Mutation 'R8948:Vsig10l'
| ID |
681451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vsig10l
|
| Ensembl Gene |
ENSMUSG00000070604 |
| Gene Name |
V-set and immunoglobulin domain containing 10 like |
| Synonyms |
2210412E05Rik |
| MMRRC Submission |
068786-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R8948 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43112575-43121443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43117623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 739
(I739F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107974]
[ENSMUST00000107977]
[ENSMUST00000203042]
[ENSMUST00000203633]
[ENSMUST00000203769]
[ENSMUST00000204680]
|
| AlphaFold |
D3YZF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107974
|
| SMART Domains |
Protein: ENSMUSP00000103608
Gene: ENSMUSG00000013367
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
IG
|
39 |
130 |
1.7e-6 |
SMART |
|
IGc2
|
145 |
202 |
4.45e-10 |
SMART |
|
IGc2
|
229 |
298 |
1.69e-10 |
SMART |
|
low complexity region
|
323 |
334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107977
AA Change: I739F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103611
Gene: ENSMUSG00000070604
AA Change: I739F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
52 |
N/A |
INTRINSIC |
|
IG
|
183 |
285 |
1.92e0 |
SMART |
|
IG
|
298 |
383 |
2.15e-3 |
SMART |
|
IGc2
|
406 |
465 |
4.19e-6 |
SMART |
|
Blast:IG_like
|
582 |
649 |
1e-13 |
BLAST |
|
transmembrane domain
|
764 |
786 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203633
|
| SMART Domains |
Protein: ENSMUSP00000145061
Gene: ENSMUSG00000107482
| Domain | Start | End | E-Value | Type |
|---|
|
ETF
|
26 |
216 |
2.7e-65 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203769
AA Change: I637F
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144692
Gene: ENSMUSG00000070604
AA Change: I637F
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
81 |
183 |
8.1e-3 |
SMART |
|
IG
|
196 |
281 |
9.2e-6 |
SMART |
|
IGc2
|
304 |
363 |
1.8e-8 |
SMART |
|
Blast:IG_like
|
480 |
547 |
9e-14 |
BLAST |
|
transmembrane domain
|
662 |
684 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204680
|
| SMART Domains |
Protein: ENSMUSP00000145493
Gene: ENSMUSG00000107482
| Domain | Start | End | E-Value | Type |
|---|
|
ETF
|
26 |
168 |
2.4e-17 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
C |
16: 8,418,805 (GRCm39) |
I102T |
possibly damaging |
Het |
| Abca9 |
T |
C |
11: 110,054,206 (GRCm39) |
|
probably null |
Het |
| Ago3 |
T |
C |
4: 126,244,115 (GRCm39) |
|
probably null |
Het |
| Akap1 |
G |
T |
11: 88,735,099 (GRCm39) |
A75E |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,041,012 (GRCm39) |
A227E |
possibly damaging |
Het |
| Bmpr1a |
G |
T |
14: 34,163,148 (GRCm39) |
H81N |
possibly damaging |
Het |
| Camkv |
C |
T |
9: 107,824,296 (GRCm39) |
T236I |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,181,358 (GRCm39) |
E601G |
probably benign |
Het |
| Ccin |
G |
A |
4: 43,984,064 (GRCm39) |
R157H |
probably damaging |
Het |
| Cdkn3 |
C |
T |
14: 47,004,780 (GRCm39) |
P114L |
probably damaging |
Het |
| Col6a2 |
C |
T |
10: 76,446,527 (GRCm39) |
G352D |
probably damaging |
Het |
| Csf2rb |
A |
T |
15: 78,232,520 (GRCm39) |
D609V |
probably benign |
Het |
| Ctc1 |
T |
G |
11: 68,917,175 (GRCm39) |
Y110* |
probably null |
Het |
| D630023F18Rik |
T |
A |
1: 65,147,899 (GRCm39) |
N218I |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,408,212 (GRCm39) |
H1873Q |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,012,396 (GRCm39) |
D1901G |
probably damaging |
Het |
| Eddm3b |
T |
A |
14: 51,354,110 (GRCm39) |
S33T |
probably damaging |
Het |
| Efcc1 |
A |
G |
6: 87,728,768 (GRCm39) |
T408A |
probably benign |
Het |
| Epas1 |
A |
G |
17: 87,134,920 (GRCm39) |
T518A |
probably benign |
Het |
| Ergic2 |
A |
T |
6: 148,104,005 (GRCm39) |
M84K |
probably damaging |
Het |
| Ergic3 |
T |
C |
2: 155,853,160 (GRCm39) |
V201A |
probably benign |
Het |
| Espn |
C |
A |
4: 152,223,278 (GRCm39) |
W258L |
probably damaging |
Het |
| Gm45337 |
A |
G |
7: 141,697,817 (GRCm39) |
S156P |
unknown |
Het |
| Hmcn2 |
T |
C |
2: 31,244,741 (GRCm39) |
Y733H |
probably damaging |
Het |
| Itga2 |
C |
T |
13: 115,009,866 (GRCm39) |
G363D |
probably damaging |
Het |
| Kcnk5 |
T |
C |
14: 20,192,046 (GRCm39) |
R372G |
probably benign |
Het |
| Khdc4 |
G |
T |
3: 88,617,219 (GRCm39) |
S506I |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,386,602 (GRCm39) |
D387E |
probably damaging |
Het |
| Lrrn2 |
A |
C |
1: 132,866,104 (GRCm39) |
I390L |
probably benign |
Het |
| Map2 |
G |
T |
1: 66,419,684 (GRCm39) |
R5L |
probably damaging |
Het |
| Muc16 |
C |
T |
9: 18,558,529 (GRCm39) |
R2588K |
unknown |
Het |
| Or3a10 |
A |
G |
11: 73,935,782 (GRCm39) |
F106S |
possibly damaging |
Het |
| Or5b99 |
A |
T |
19: 12,976,445 (GRCm39) |
I32F |
probably damaging |
Het |
| Or7g29 |
A |
G |
9: 19,286,262 (GRCm39) |
I305T |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,103,530 (GRCm39) |
I178T |
probably damaging |
Het |
| Pak2 |
A |
T |
16: 31,852,729 (GRCm39) |
|
probably benign |
Het |
| Perp |
A |
T |
10: 18,729,326 (GRCm39) |
I86F |
possibly damaging |
Het |
| Plpp1 |
A |
T |
13: 112,993,511 (GRCm39) |
I149F |
probably damaging |
Het |
| Polr1f |
T |
A |
12: 33,483,526 (GRCm39) |
Y93N |
probably damaging |
Het |
| Preb |
A |
G |
5: 31,115,671 (GRCm39) |
S220P |
probably damaging |
Het |
| Prrt4 |
T |
C |
6: 29,177,665 (GRCm39) |
T35A |
probably damaging |
Het |
| Ror2 |
T |
A |
13: 53,286,032 (GRCm39) |
I73F |
possibly damaging |
Het |
| Rpl36-ps4 |
A |
G |
17: 88,228,574 (GRCm39) |
T40A |
probably damaging |
Het |
| Rsbn1 |
A |
T |
3: 103,868,830 (GRCm39) |
H623L |
possibly damaging |
Het |
| Sap30 |
C |
A |
8: 57,940,456 (GRCm39) |
A49S |
possibly damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,550,075 (GRCm39) |
T648A |
probably benign |
Het |
| Sh3pxd2a |
T |
C |
19: 47,361,882 (GRCm39) |
R83G |
probably damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,246,042 (GRCm39) |
I130N |
probably damaging |
Het |
| Smchd1 |
C |
T |
17: 71,743,767 (GRCm39) |
R466Q |
probably damaging |
Het |
| Smgc |
C |
T |
15: 91,722,565 (GRCm39) |
|
probably benign |
Het |
| Stk32b |
A |
T |
5: 37,612,341 (GRCm39) |
N348K |
possibly damaging |
Het |
| Sult2a1 |
A |
G |
7: 13,530,342 (GRCm39) |
F266L |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,467,484 (GRCm39) |
M1L |
probably damaging |
Het |
| Telo2 |
A |
G |
17: 25,332,085 (GRCm39) |
V161A |
probably benign |
Het |
| Tmed11 |
C |
T |
5: 108,925,293 (GRCm39) |
R173H |
probably damaging |
Het |
| Trappc6a |
G |
A |
7: 19,249,923 (GRCm39) |
|
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,522 (GRCm39) |
V819D |
probably damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,569 (GRCm39) |
I259T |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,723,340 (GRCm39) |
I286T |
probably damaging |
Het |
| Zfyve1 |
A |
C |
12: 83,594,802 (GRCm39) |
V730G |
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,499,288 (GRCm39) |
D1284E |
possibly damaging |
Het |
| Zmym4 |
C |
T |
4: 126,758,060 (GRCm39) |
R1498H |
probably damaging |
Het |
| Znhit2 |
A |
T |
19: 6,111,803 (GRCm39) |
R183* |
probably null |
Het |
|
| Other mutations in Vsig10l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Vsig10l
|
APN |
7 |
43,114,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01390:Vsig10l
|
APN |
7 |
43,115,889 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02401:Vsig10l
|
APN |
7 |
43,113,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02404:Vsig10l
|
APN |
7 |
43,113,171 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02514:Vsig10l
|
APN |
7 |
43,113,338 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02636:Vsig10l
|
APN |
7 |
43,113,002 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02805:Vsig10l
|
APN |
7 |
43,114,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02823:Vsig10l
|
APN |
7 |
43,115,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02827:Vsig10l
|
APN |
7 |
43,114,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0111:Vsig10l
|
UTSW |
7 |
43,117,525 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0394:Vsig10l
|
UTSW |
7 |
43,114,879 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0465:Vsig10l
|
UTSW |
7 |
43,116,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Vsig10l
|
UTSW |
7 |
43,113,561 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1689:Vsig10l
|
UTSW |
7 |
43,114,792 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1991:Vsig10l
|
UTSW |
7 |
43,116,892 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2103:Vsig10l
|
UTSW |
7 |
43,116,892 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2358:Vsig10l
|
UTSW |
7 |
43,118,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3015:Vsig10l
|
UTSW |
7 |
43,116,881 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4024:Vsig10l
|
UTSW |
7 |
43,117,510 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4031:Vsig10l
|
UTSW |
7 |
43,114,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Vsig10l
|
UTSW |
7 |
43,113,173 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5020:Vsig10l
|
UTSW |
7 |
43,114,741 (GRCm39) |
nonsense |
probably null |
|
|
R5261:Vsig10l
|
UTSW |
7 |
43,120,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5317:Vsig10l
|
UTSW |
7 |
43,114,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5426:Vsig10l
|
UTSW |
7 |
43,114,247 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5656:Vsig10l
|
UTSW |
7 |
43,113,575 (GRCm39) |
nonsense |
probably null |
|
|
R5842:Vsig10l
|
UTSW |
7 |
43,118,396 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6012:Vsig10l
|
UTSW |
7 |
43,117,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6235:Vsig10l
|
UTSW |
7 |
43,118,396 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6309:Vsig10l
|
UTSW |
7 |
43,120,397 (GRCm39) |
splice site |
probably null |
|
|
R6994:Vsig10l
|
UTSW |
7 |
43,114,491 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7250:Vsig10l
|
UTSW |
7 |
43,113,099 (GRCm39) |
missense |
probably benign |
|
|
R7397:Vsig10l
|
UTSW |
7 |
43,117,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7767:Vsig10l
|
UTSW |
7 |
43,113,141 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7956:Vsig10l
|
UTSW |
7 |
43,117,494 (GRCm39) |
missense |
probably benign |
|
|
R8086:Vsig10l
|
UTSW |
7 |
43,114,876 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8139:Vsig10l
|
UTSW |
7 |
43,113,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8297:Vsig10l
|
UTSW |
7 |
43,113,531 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8341:Vsig10l
|
UTSW |
7 |
43,113,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8519:Vsig10l
|
UTSW |
7 |
43,114,326 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8925:Vsig10l
|
UTSW |
7 |
43,116,020 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8927:Vsig10l
|
UTSW |
7 |
43,116,020 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9157:Vsig10l
|
UTSW |
7 |
43,112,948 (GRCm39) |
missense |
|
|
|
R9203:Vsig10l
|
UTSW |
7 |
43,112,657 (GRCm39) |
start codon destroyed |
probably null |
|
|
R9481:Vsig10l
|
UTSW |
7 |
43,112,795 (GRCm39) |
nonsense |
probably null |
|
|
X0028:Vsig10l
|
UTSW |
7 |
43,112,788 (GRCm39) |
utr 3 prime |
probably benign |
|
|
X0067:Vsig10l
|
UTSW |
7 |
43,116,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTCTTCCTGGAGGCTGCAG -3'
(R):5'- AACTAGGTGCTGGGATGCTG -3'
Sequencing Primer
(F):5'- CAGTGCTCACCTGGGATGTAGAG -3'
(R):5'- GATGCTGTCACAGAAGCCC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation