Mutagenetix > Incidental Mutation

Incidental Mutation 'R4422:Vsig10'

327138

Institutional Source

Beutler Lab

Gene Symbol

Vsig10

Ensembl Gene

ENSMUSG00000066894

Gene Name

V-set and immunoglobulin domain containing 10

Synonyms

MMRRC Submission

041695-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117457331-117493071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117462986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 71 (S71P)

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: S44P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
AA Change: S44P

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: S71P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
AA Change: S71P

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: ENSMUST00000128524

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (67/70)

Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 26,895,412 (GRCm39)	S1168P	probably benign	Het
Adgrf2	T	C	17: 43,024,046 (GRCm39)	M142V	probably benign	Het
Akna	G	T	4: 63,305,330 (GRCm39)	Q479K	possibly damaging	Het
Arhgef9	T	G	X: 94,144,670 (GRCm39)	I131L	possibly damaging	Het
AW551984	A	T	9: 39,511,373 (GRCm39)	C111S	probably null	Het
Bak1	C	A	17: 27,240,298 (GRCm39)	G130W	probably damaging	Het
Bank1	T	A	3: 135,788,972 (GRCm39)	Q441L	probably damaging	Het
C030034I22Rik	T	C	17: 69,725,153 (GRCm39)		noncoding transcript	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cct7	A	G	6: 85,444,127 (GRCm39)	R355G	probably damaging	Het
Cd19	C	T	7: 126,012,578 (GRCm39)	V272I	probably benign	Het
Cenpf	A	G	1: 189,390,547 (GRCm39)	L1095S	probably damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Chrm3	A	T	13: 9,928,591 (GRCm39)	Y148*	probably null	Het
Chrnb3	T	C	8: 27,886,761 (GRCm39)	V445A	possibly damaging	Het
Col4a4	T	A	1: 82,467,559 (GRCm39)	M852L	unknown	Het
Dhx29	T	C	13: 113,083,781 (GRCm39)	L612P	probably damaging	Het
Dlgap2	T	C	8: 14,793,463 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,972,799 (GRCm39)	T2045A	possibly damaging	Het
Dync1li1	A	G	9: 114,538,377 (GRCm39)	T245A	probably damaging	Het
Epha4	T	C	1: 77,488,354 (GRCm39)	E42G	probably damaging	Het
Fam120b	C	A	17: 15,622,445 (GRCm39)	T141K	probably damaging	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Gcnt2	T	G	13: 41,014,001 (GRCm39)	Y57*	probably null	Het
Gm5409	C	T	6: 41,396,519 (GRCm39)		noncoding transcript	Het
Hip1r	A	G	5: 124,135,069 (GRCm39)	K402E	possibly damaging	Het
Hlcs	G	A	16: 93,939,819 (GRCm39)	P506L	possibly damaging	Het
Itih4	T	A	14: 30,611,821 (GRCm39)	F142I	probably damaging	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lamb2	A	G	9: 108,360,754 (GRCm39)	D518G	probably damaging	Het
Ldlr	G	A	9: 21,649,248 (GRCm39)	C341Y	probably damaging	Het
Lsr	G	T	7: 30,665,422 (GRCm39)	N177K	probably benign	Het
Macf1	G	A	4: 123,359,839 (GRCm39)	S1815F	probably damaging	Het
Mms22l	T	C	4: 24,503,008 (GRCm39)	S95P	probably damaging	Het
Mon2	A	G	10: 122,878,887 (GRCm39)	L218P	probably damaging	Het
Nlrp4f	C	T	13: 65,332,776 (GRCm39)		probably null	Het
Nrde2	G	A	12: 100,112,286 (GRCm39)	Q137*	probably null	Het
Or12e10	C	A	2: 87,640,989 (GRCm39)	T275K	probably damaging	Het
Or51l14	G	T	7: 103,101,450 (GRCm39)	R302L	probably damaging	Het
Or6z7	G	T	7: 6,484,037 (GRCm39)	Y39*	probably null	Het
Phf24	G	A	4: 42,934,817 (GRCm39)	C151Y	probably damaging	Het
Pik3r1	T	G	13: 101,830,892 (GRCm39)	N3T	probably benign	Het
Plcb2	T	C	2: 118,542,484 (GRCm39)	K821E	probably benign	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Prelid2	T	C	18: 42,045,461 (GRCm39)	T150A	probably benign	Het
Psg21	A	G	7: 18,381,257 (GRCm39)	S429P	probably damaging	Het
Reg4	T	C	3: 98,140,360 (GRCm39)	Y114H	possibly damaging	Het
Rsbn1l	G	T	5: 21,101,544 (GRCm39)	H665Q	probably damaging	Het
Rspo2	T	C	15: 43,033,150 (GRCm39)	N24S	probably benign	Het
Ryr2	G	T	13: 11,731,952 (GRCm39)	C2329*	probably null	Het
Skint2	T	A	4: 112,441,785 (GRCm39)		probably benign	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tmem53	T	C	4: 117,123,149 (GRCm39)	Y37H	probably damaging	Het
Tmem59l	G	A	8: 70,938,749 (GRCm39)	R111W	probably damaging	Het
Tnks2	G	A	19: 36,823,053 (GRCm39)	V107I	probably damaging	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Tubgcp4	T	A	2: 121,019,882 (GRCm39)	L404*	probably null	Het
Vmn2r86	T	C	10: 130,288,845 (GRCm39)	I219V	possibly damaging	Het
Wnk1	T	C	6: 119,930,856 (GRCm39)	N896S	probably benign	Het
Zfp871	T	A	17: 32,993,808 (GRCm39)	S437C	probably benign	Het
Zfp871	C	A	17: 32,993,807 (GRCm39)	S456I	probably benign	Het
Zfp873	A	G	10: 81,896,708 (GRCm39)	T480A	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
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
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'- ACGCACGCACATGACATTG -3'
(R):5'- AGTCTCACTTACTGGCCACC -3'

Sequencing Primer
(F):5'- GCACGCACATGACATTGCTATTAG -3'
(R):5'- CCAGTGGGTCTCATTCAGAAC -3'

Posted On

2015-07-07