Incidental Mutation 'R6214:Vsig10'
ID |
503612 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vsig10
|
Ensembl Gene |
ENSMUSG00000066894 |
Gene Name |
V-set and immunoglobulin domain containing 10 |
Synonyms |
|
MMRRC Submission |
044347-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6214 (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 117481989 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 393
(C393Y)
|
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: C366Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083655 Gene: ENSMUSG00000066894 AA Change: C366Y
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: C393Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107598 Gene: ENSMUSG00000066894 AA Change: C393Y
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: ENSMUST00000145052
|
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 |
0.3217 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
All alleles(11) : Gene trapped(11) |
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap3 |
A |
C |
4: 135,968,736 (GRCm39) |
D727A |
possibly damaging |
Het |
Aste1 |
A |
G |
9: 105,274,056 (GRCm39) |
K38E |
probably damaging |
Het |
Atp13a5 |
T |
C |
16: 29,070,159 (GRCm39) |
Y909C |
probably damaging |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Cd79b |
C |
A |
11: 106,203,267 (GRCm39) |
|
probably null |
Het |
Chia1 |
T |
C |
3: 106,029,761 (GRCm39) |
F132L |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,019,646 (GRCm39) |
E491G |
probably benign |
Het |
Ctdnep1 |
T |
C |
11: 69,880,334 (GRCm39) |
F206L |
probably damaging |
Het |
Dido1 |
T |
C |
2: 180,303,945 (GRCm39) |
K1320E |
probably damaging |
Het |
Dmbt1 |
G |
T |
7: 130,668,463 (GRCm39) |
C573F |
possibly damaging |
Het |
Dmtn |
A |
G |
14: 70,850,776 (GRCm39) |
I205T |
probably benign |
Het |
Eif4g3 |
C |
T |
4: 137,785,314 (GRCm39) |
H137Y |
probably damaging |
Het |
Flg2 |
G |
T |
3: 93,109,166 (GRCm39) |
C398F |
possibly damaging |
Het |
Gabbr1 |
A |
G |
17: 37,380,257 (GRCm39) |
D604G |
probably damaging |
Het |
Glis2 |
T |
A |
16: 4,428,197 (GRCm39) |
L83* |
probably null |
Het |
Glra3 |
A |
G |
8: 56,444,291 (GRCm39) |
|
probably null |
Het |
Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
Lrrc9 |
A |
T |
12: 72,506,627 (GRCm39) |
E301D |
probably damaging |
Het |
Ms4a6c |
T |
C |
19: 11,448,500 (GRCm39) |
I11T |
possibly damaging |
Het |
Myo1d |
A |
T |
11: 80,670,617 (GRCm39) |
M1K |
probably null |
Het |
Nav3 |
A |
G |
10: 109,688,426 (GRCm39) |
L617P |
probably damaging |
Het |
Or8b3b |
A |
G |
9: 38,584,510 (GRCm39) |
S90P |
probably benign |
Het |
Pcsk7 |
A |
C |
9: 45,821,674 (GRCm39) |
N156T |
possibly damaging |
Het |
Pde4d |
C |
T |
13: 110,085,967 (GRCm39) |
S515L |
probably damaging |
Het |
Pira13 |
A |
G |
7: 3,824,717 (GRCm39) |
I554T |
probably damaging |
Het |
Prom2 |
A |
G |
2: 127,381,695 (GRCm39) |
|
probably null |
Het |
Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Scn3a |
T |
C |
2: 65,325,380 (GRCm39) |
I1046V |
probably benign |
Het |
Slc13a1 |
A |
T |
6: 24,090,795 (GRCm39) |
Y541* |
probably null |
Het |
Speer1d |
C |
T |
5: 11,307,197 (GRCm39) |
T25I |
probably damaging |
Het |
Spen |
C |
T |
4: 141,206,423 (GRCm39) |
E735K |
unknown |
Het |
Tm6sf2 |
T |
C |
8: 70,525,724 (GRCm39) |
V27A |
possibly damaging |
Het |
Trim21 |
A |
G |
7: 102,208,646 (GRCm39) |
S358P |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,710,552 (GRCm39) |
|
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,602,820 (GRCm39) |
Q525R |
probably benign |
Het |
Ywhag |
A |
G |
5: 135,939,928 (GRCm39) |
I222T |
probably 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 |
R5866:Vsig10
|
UTSW |
5 |
117,490,814 (GRCm39) |
critical splice acceptor site |
probably null |
|
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'- CCCATGAGAACTTGCTTCGTGG -3'
(R):5'- TCTCAAACCACAGGCAAGTG -3'
Sequencing Primer
(F):5'- GGGGGCAACGTGACTCTC -3'
(R):5'- TTGACCATGGCCCATGAAG -3'
|
Posted On |
2018-02-27 |