Mutagenetix > Incidental Mutation

Incidental Mutation 'R6214:Vsig10'

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

Genbank: NM_001033311; MGI: 2448533

Essential gene?

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

Stock #

R6214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117319083-117355005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117343924 bp (GRCm38)

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: 136,241,425	D727A	possibly damaging	Het
Aste1	A	G	9: 105,396,857	K38E	probably damaging	Het
Atp13a5	T	C	16: 29,251,407	Y909C	probably damaging	Het
Ccdc13	A	G	9: 121,798,909		probably benign	Het
Cd79b	C	A	11: 106,312,441		probably null	Het
Chia1	T	C	3: 106,122,445	F132L	probably damaging	Het
Cntrl	A	G	2: 35,129,634	E491G	probably benign	Het
Ctdnep1	T	C	11: 69,989,508	F206L	probably damaging	Het
Dido1	T	C	2: 180,662,152	K1320E	probably damaging	Het
Dmbt1	G	T	7: 131,066,733	C573F	possibly damaging	Het
Dmtn	A	G	14: 70,613,336	I205T	probably benign	Het
Eif4g3	C	T	4: 138,058,003	H137Y	probably damaging	Het
Flg2	G	T	3: 93,201,859	C398F	possibly damaging	Het
Gabbr1	A	G	17: 37,069,365	D604G	probably damaging	Het
Glis2	T	A	16: 4,610,333	L83*	probably null	Het
Glra3	A	G	8: 55,991,256		probably null	Het
Gm15448	A	G	7: 3,821,718	I554T	probably damaging	Het
Gm8890	C	T	5: 11,257,230	T25I	probably damaging	Het
Hipk3	T	C	2: 104,433,741	D804G	probably damaging	Het
Kcnd1	G	C	X: 7,823,909	A23P	probably damaging	Homo
Lrrc9	A	T	12: 72,459,853	E301D	probably damaging	Het
Ms4a6c	T	C	19: 11,471,136	I11T	possibly damaging	Het
Myo1d	A	T	11: 80,779,791	M1K	probably null	Het
Nav3	A	G	10: 109,852,565	L617P	probably damaging	Het
Olfr918	A	G	9: 38,673,214	S90P	probably benign	Het
Pcsk7	A	C	9: 45,910,376	N156T	possibly damaging	Het
Pde4d	C	T	13: 109,949,433	S515L	probably damaging	Het
Prom2	A	G	2: 127,539,775		probably null	Het
Rsf1	G	GACGGCGGCA	7: 97,579,909		probably benign	Het
Scn3a	T	C	2: 65,495,036	I1046V	probably benign	Het
Slc13a1	A	T	6: 24,090,796	Y541*	probably null	Het
Spen	C	T	4: 141,479,112	E735K	unknown	Het
Tm6sf2	T	C	8: 70,073,074	V27A	possibly damaging	Het
Trim21	A	G	7: 102,559,439	S358P	probably damaging	Het
Ttc21a	A	G	9: 119,966,772	Y1224C	probably damaging	Het
Ttn	T	A	2: 76,880,208		probably benign	Het
Vmn2r99	A	G	17: 19,382,558	Q525R	probably benign	Het
Ywhag	A	G	5: 135,911,074	I222T	probably damaging	Het

Other mutations in Vsig10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Vsig10	APN	5	117338414	missense	probably benign	0.00
IGL00340:Vsig10	APN	5	117351587	missense	probably benign	0.03
IGL01082:Vsig10	APN	5	117334905	missense	probably benign	0.33
IGL01285:Vsig10	APN	5	117324889	missense	probably benign	0.43
IGL01790:Vsig10	APN	5	117338314	missense	probably damaging	1.00
IGL03004:Vsig10	APN	5	117325075	missense	probably damaging	1.00
D3080:Vsig10	UTSW	5	117343819	missense	probably damaging	1.00
R0101:Vsig10	UTSW	5	117335069	critical splice donor site	probably null
R0403:Vsig10	UTSW	5	117338461	missense	probably benign	0.05
R0674:Vsig10	UTSW	5	117343846	missense	probably damaging	1.00
R1437:Vsig10	UTSW	5	117351570	missense	probably damaging	0.96
R1689:Vsig10	UTSW	5	117352760	missense	probably benign	0.00
R1710:Vsig10	UTSW	5	117351654	missense	probably benign
R1765:Vsig10	UTSW	5	117318815	unclassified	probably benign
R4422:Vsig10	UTSW	5	117324921	missense	probably benign	0.00
R4541:Vsig10	UTSW	5	117352816	utr 3 prime	probably benign
R4909:Vsig10	UTSW	5	117338243	missense	probably benign	0.31
R4999:Vsig10	UTSW	5	117343975	missense	probably damaging	1.00
R5855:Vsig10	UTSW	5	117338270	missense	probably damaging	1.00
R5866:Vsig10	UTSW	5	117352749	critical splice acceptor site	probably null
R6418:Vsig10	UTSW	5	117348296	missense	probably benign	0.03
R6505:Vsig10	UTSW	5	117351759	missense	possibly damaging	0.95
R6854:Vsig10	UTSW	5	117338407	missense	probably benign	0.36
R7121:Vsig10	UTSW	5	117343902	missense	probably damaging	1.00
R7596:Vsig10	UTSW	5	117334783	missense	possibly damaging	0.46
R8066:Vsig10	UTSW	5	117351784	missense	probably benign	0.00
R8335:Vsig10	UTSW	5	117348370	missense	probably damaging	1.00
R8787:Vsig10	UTSW	5	117334916	missense	probably benign	0.18
R9026:Vsig10	UTSW	5	117338258	missense	probably benign	0.00
R9257:Vsig10	UTSW	5	117325066	missense	probably benign	0.29
R9386:Vsig10	UTSW	5	117325075	missense	probably damaging	1.00
R9474:Vsig10	UTSW	5	117325039	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