Mutagenetix > Incidental Mutation

Incidental Mutation 'R8039:Vsig1'

618449

Institutional Source

Beutler Lab

Gene Symbol

Vsig1

Ensembl Gene

ENSMUSG00000031430

Gene Name

V-set and immunoglobulin domain containing 1

Synonyms

1700062D20Rik, 4930405J24Rik

MMRRC Submission

067476-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8039 (G1)

Quality Score

221.999

Status

Not validated

Chromosome

Chromosomal Location

139808357-139840221 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 139833875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 232 (H232Y)

Ref Sequence

ENSEMBL: ENSMUSP00000033806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033806]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033806
AA Change: H232Y

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000033806
Gene: ENSMUSG00000031430
AA Change: H232Y

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	29	139	3.51e-8	SMART
IGc2	154	220	5.93e-6	SMART
transmembrane domain	237	259	N/A	INTRINSIC
low complexity region	322	335	N/A	INTRINSIC
low complexity region	358	388	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: Male chimeras hemizygous for a knock-out allele exhibit abnormal differentiation of gastric epithelia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,547,699 (GRCm39)	H225R	probably damaging	Het
Adgrb2	T	A	4: 129,916,061 (GRCm39)	L1451Q	probably damaging	Het
Afdn	T	C	17: 14,119,403 (GRCm39)	L1713P	probably damaging	Het
Agr2	A	T	12: 36,045,558 (GRCm39)	I15F	probably benign	Het
Agrn	T	C	4: 156,253,468 (GRCm39)	T1808A	probably benign	Het
Akap6	A	G	12: 53,188,459 (GRCm39)	I1958V	probably benign	Het
Ankrd60	C	A	2: 173,414,284 (GRCm39)		probably null	Het
Anpep	A	G	7: 79,489,148 (GRCm39)		probably null	Het
Apoa4	A	T	9: 46,153,591 (GRCm39)	D64V	possibly damaging	Het
Arhgef26	C	A	3: 62,247,351 (GRCm39)	T145N	probably benign	Het
Art1	A	T	7: 101,756,052 (GRCm39)	Q81L	probably benign	Het
Astl	A	T	2: 127,185,903 (GRCm39)	S71C	probably damaging	Het
Atp2a1	A	G	7: 126,047,977 (GRCm39)	I611T	probably damaging	Het
Bltp1	T	A	3: 36,997,363 (GRCm39)	V1140E	probably benign	Het
Cacna2d2	T	A	9: 107,404,632 (GRCm39)	V1139D	possibly damaging	Het
Castor1	G	T	11: 4,171,639 (GRCm39)	A288S	probably damaging	Het
Chst10	T	A	1: 38,905,112 (GRCm39)	K198*	probably null	Het
Ckmt2	G	A	13: 92,011,431 (GRCm39)	H60Y	possibly damaging	Het
Coq7	G	C	7: 118,132,469 (GRCm39)	S2R	possibly damaging	Het
Cspp1	T	A	1: 10,183,238 (GRCm39)	D814E	probably benign	Het
Cyp2c54	CCTCTTTCATAGCTCT	CCTCT	19: 40,062,176 (GRCm39)		probably null	Het
Daam2	C	A	17: 49,771,566 (GRCm39)	G860V	probably damaging	Het
Ecm2	A	T	13: 49,668,326 (GRCm39)	I10F	probably benign	Het
Epb41l1	A	T	2: 156,348,332 (GRCm39)	D312V	probably damaging	Het
Epsti1	G	A	14: 78,168,741 (GRCm39)	R126H	probably damaging	Het
Erc1	A	T	6: 119,750,626 (GRCm39)	Y367*	probably null	Het
Erh	T	A	12: 80,684,352 (GRCm39)	R42W	probably damaging	Het
Fam124a	C	T	14: 62,843,325 (GRCm39)	Q278*	probably null	Het
Fbxo3	T	A	2: 103,885,286 (GRCm39)	L385Q	probably damaging	Het
Fbxo31	T	A	8: 122,285,794 (GRCm39)	T219S	probably damaging	Het
Fstl5	T	G	3: 76,555,725 (GRCm39)	V534G	possibly damaging	Het
Gbp2b	A	T	3: 142,323,925 (GRCm39)	I577F	probably benign	Het
Gbp8	A	T	5: 105,198,783 (GRCm39)	L44*	probably null	Het
Gck	C	T	11: 5,860,301 (GRCm39)	A114T	probably benign	Het
Gtf2i	A	G	5: 134,284,688 (GRCm39)	V537A	possibly damaging	Het
Iqcm	C	A	8: 76,489,733 (GRCm39)	H400Q	probably damaging	Het
Iqcn	T	C	8: 71,163,555 (GRCm39)	V916A	probably benign	Het
Itpr1	T	C	6: 108,363,589 (GRCm39)	L737P	probably damaging	Het
Jakmip1	A	G	5: 37,258,116 (GRCm39)	E254G	probably damaging	Het
Kif15	A	T	9: 122,836,490 (GRCm39)	R1095W	possibly damaging	Het
Klhdc8a	G	A	1: 132,230,846 (GRCm39)	R237Q	probably benign	Het
Klhl38	T	C	15: 58,186,258 (GRCm39)	E157G	probably benign	Het
Klrk1	T	A	6: 129,589,786 (GRCm39)	N221I	probably benign	Het
Lhx8	A	T	3: 154,012,576 (GRCm39)	H345Q	probably damaging	Het
Lims1	T	A	10: 58,245,494 (GRCm39)	N174K	probably benign	Het
Madd	T	A	2: 90,997,406 (GRCm39)	Q754L	probably benign	Het
Mau2	T	C	8: 70,472,440 (GRCm39)	D581G	probably damaging	Het
Miga1	A	T	3: 151,982,393 (GRCm39)	I561N	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mob3c	T	C	4: 115,688,884 (GRCm39)	V139A	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nalf1	T	C	8: 9,257,892 (GRCm39)	T419A	probably benign	Het
Ncapd2	C	T	6: 125,157,989 (GRCm39)	V380I	probably damaging	Het
Nes	G	A	3: 87,884,315 (GRCm39)	R858K	probably benign	Het
Nphp3	T	C	9: 103,909,162 (GRCm39)	S791P	probably benign	Het
Nup210	T	C	6: 91,047,215 (GRCm39)	T496A	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	C	T	2: 88,356,215 (GRCm39)	T96I	probably benign	Het
Or6y1	T	A	1: 174,277,162 (GRCm39)	S324R	unknown	Het
Or8b50	T	A	9: 38,518,685 (GRCm39)	M308K	probably benign	Het
Ovgp1	T	A	3: 105,883,339 (GRCm39)	S105T	probably benign	Het
Pbld2	T	A	10: 62,883,771 (GRCm39)	C79S	probably damaging	Het
Pik3cd	T	A	4: 149,744,323 (GRCm39)	M143L	possibly damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Poln	A	G	5: 34,280,016 (GRCm39)	V282A	probably benign	Het
Ppp1r11	T	C	17: 37,262,338 (GRCm39)	T21A	probably damaging	Het
Prpf8	T	A	11: 75,393,368 (GRCm39)	I1664N	possibly damaging	Het
Prr29	C	T	11: 106,267,738 (GRCm39)	A161V	probably benign	Het
Rasa3	T	C	8: 13,638,931 (GRCm39)	D292G	probably damaging	Het
Rnf25	T	C	1: 74,633,123 (GRCm39)	T411A	probably damaging	Het
Rraga	C	T	4: 86,494,217 (GRCm39)	T21I	probably damaging	Het
Setdb2	T	A	14: 59,639,824 (GRCm39)	Y673F	probably damaging	Het
Sf3a1	C	T	11: 4,117,787 (GRCm39)	T183I	probably damaging	Het
Shank3	A	T	15: 89,389,642 (GRCm39)	H413L	probably damaging	Het
Slc30a5	A	G	13: 100,950,189 (GRCm39)		probably null	Het
Slc6a18	T	C	13: 73,813,745 (GRCm39)	S523G	probably benign	Het
Spaca1	C	T	4: 34,044,207 (GRCm39)	V96I	probably damaging	Het
Sycp2	C	T	2: 178,016,378 (GRCm39)	A695T	probably benign	Het
Tnrc18	C	A	5: 142,717,807 (GRCm39)	G2216C	unknown	Het
Trak2	T	C	1: 58,985,447 (GRCm39)	N17S	probably benign	Het
Ttn	T	A	2: 76,708,776 (GRCm39)	N8792I	unknown	Het
Ttyh1	T	C	7: 4,125,540 (GRCm39)	V64A	probably benign	Het
Usb1	T	A	8: 96,060,041 (GRCm39)	S50R	probably damaging	Het
Ush2a	T	A	1: 188,689,570 (GRCm39)	I5044N	probably damaging	Het
Vmn1r84	A	T	7: 12,095,935 (GRCm39)	F253I	possibly damaging	Het
Vmn2r99	T	C	17: 19,600,302 (GRCm39)	I442T	probably benign	Het

Other mutations in Vsig1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Vsig1	APN	X	139,838,429 (GRCm39)	missense	possibly damaging	0.90
IGL03002:Vsig1	APN	X	139,827,088 (GRCm39)	missense	probably damaging	1.00
IGL03029:Vsig1	APN	X	139,827,261 (GRCm39)	missense	possibly damaging	0.55
R0383:Vsig1	UTSW	X	139,837,062 (GRCm39)	missense	possibly damaging	0.87
R4616:Vsig1	UTSW	X	139,827,135 (GRCm39)	missense	probably benign	0.01
R4617:Vsig1	UTSW	X	139,827,135 (GRCm39)	missense	probably benign	0.01
R4618:Vsig1	UTSW	X	139,827,135 (GRCm39)	missense	probably benign	0.01
R4675:Vsig1	UTSW	X	139,833,861 (GRCm39)	missense	probably damaging	1.00
R7833:Vsig1	UTSW	X	139,833,875 (GRCm39)	missense	probably benign	0.01
R8041:Vsig1	UTSW	X	139,833,875 (GRCm39)	missense	probably benign	0.01
R8042:Vsig1	UTSW	X	139,833,875 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGTTGGAGTTAAGCAATGTAAACTG -3'
(R):5'- TCCTAGACTGTTAGTAACACCACTG -3'

Sequencing Primer
(F):5'- AGTTAAGCAATGTAAACTGAGATGAC -3'
(R):5'- GCCTACTTTCTAATGATTGTGATGC -3'

Posted On

2020-01-23