Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01327:Vsig1'

74313

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vsig1

Ensembl Gene

ENSMUSG00000031430

Gene Name

V-set and immunoglobulin domain containing 1

Synonyms

1700062D20Rik, 4930405J24Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01327

Quality Score

Status

Chromosome

Chromosomal Location

139808357-139840221 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139838429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 283 (V283E)

Ref Sequence

ENSEMBL: ENSMUSP00000033806 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033806
AA Change: V283E

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033806
Gene: ENSMUSG00000031430
AA Change: V283E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127629

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,029,521 (GRCm39)	V497E	probably damaging	Het
Adcy7	T	G	8: 89,045,418 (GRCm39)		probably benign	Het
Aldh1a2	T	A	9: 71,193,248 (GRCm39)	F486I	possibly damaging	Het
Alox12	T	A	11: 70,145,375 (GRCm39)	H66L	probably benign	Het
Apoh	T	G	11: 108,288,187 (GRCm39)	Y102D	probably damaging	Het
Arl9	T	C	5: 77,154,401 (GRCm39)	V43A	possibly damaging	Het
Atf6	A	G	1: 170,616,175 (GRCm39)		probably null	Het
Atp4a	T	A	7: 30,412,675 (GRCm39)	I127N	possibly damaging	Het
AY358078	T	A	14: 52,043,166 (GRCm39)		probably benign	Het
Baat	T	G	4: 49,490,338 (GRCm39)	K249Q	probably damaging	Het
Brat1	C	T	5: 140,703,963 (GRCm39)	Q739*	probably null	Het
C8g	A	G	2: 25,389,089 (GRCm39)	F165L	probably damaging	Het
Cel	T	G	2: 28,447,967 (GRCm39)	D353A	possibly damaging	Het
Col6a1	G	T	10: 76,546,813 (GRCm39)	T803K	unknown	Het
Cpxm1	A	G	2: 130,238,277 (GRCm39)	L95P	probably benign	Het
Ctsr	A	G	13: 61,310,489 (GRCm39)		probably benign	Het
Cyth1	A	G	11: 118,084,439 (GRCm39)		probably null	Het
Dync1h1	A	T	12: 110,583,126 (GRCm39)		probably benign	Het
Ezh1	C	T	11: 101,094,262 (GRCm39)	C407Y	probably damaging	Het
Fam243	T	C	16: 92,117,661 (GRCm39)	Y209C	probably benign	Het
Gm3696	A	T	14: 18,435,903 (GRCm39)	W38R	probably benign	Het
Gm9611	T	C	14: 42,116,622 (GRCm39)	T39A	possibly damaging	Het
Gnpat	T	A	8: 125,605,372 (GRCm39)	L287H	probably damaging	Het
Golm1	G	T	13: 59,792,958 (GRCm39)	N182K	possibly damaging	Het
Hdac6	T	C	X: 7,798,013 (GRCm39)	M899V	probably benign	Het
Hsf3	T	A	X: 95,358,578 (GRCm39)	M272L	probably benign	Het
Kif19a	C	T	11: 114,672,625 (GRCm39)		probably benign	Het
Lcn2	T	G	2: 32,276,030 (GRCm39)	Y100S	possibly damaging	Het
Lrrc8d	T	A	5: 105,960,131 (GRCm39)	S180R	probably damaging	Het
Ly6h	A	G	15: 75,436,948 (GRCm39)		probably benign	Het
Macf1	T	C	4: 123,403,705 (GRCm39)	N705D	probably benign	Het
Mst1r	C	T	9: 107,785,043 (GRCm39)	P234S	probably benign	Het
Msto1	T	A	3: 88,817,939 (GRCm39)		probably null	Het
Myo5a	T	A	9: 75,094,820 (GRCm39)		probably benign	Het
Nipa1	T	C	7: 55,629,409 (GRCm39)	I235V	probably benign	Het
Nlgn3	T	C	X: 100,362,228 (GRCm39)	V399A	probably benign	Het
Or1d2	T	A	11: 74,255,738 (GRCm39)	M81K	possibly damaging	Het
Or2b28	A	G	13: 21,531,377 (GRCm39)	N93S	probably benign	Het
Pih1d1	T	C	7: 44,809,399 (GRCm39)	S289P	probably benign	Het
Ppl	T	C	16: 4,905,508 (GRCm39)	N1596D	probably benign	Het
Psmb6	T	A	11: 70,417,412 (GRCm39)	S114R	possibly damaging	Het
Pum1	C	A	4: 130,457,854 (GRCm39)	Q289K	probably damaging	Het
Shkbp1	T	C	7: 27,054,676 (GRCm39)	I75V	probably benign	Het
Slc24a3	T	A	2: 145,444,478 (GRCm39)	I284N	probably benign	Het
Slc44a3	C	T	3: 121,320,842 (GRCm39)	G53D	probably damaging	Het
Slc9a4	A	C	1: 40,668,565 (GRCm39)	D736A	probably benign	Het
Stra6	A	G	9: 58,059,854 (GRCm39)	D605G	probably benign	Het
Tas2r126	T	A	6: 42,411,684 (GRCm39)	H72Q	probably benign	Het
Tbrg1	C	T	9: 37,564,408 (GRCm39)	R166Q	probably benign	Het
Thumpd1	C	T	7: 119,319,925 (GRCm39)	G14R	probably benign	Het
Ticrr	C	T	7: 79,344,209 (GRCm39)	T1358I	probably benign	Het
Tmtc2	A	T	10: 105,184,340 (GRCm39)	N518K	probably benign	Het
Trpm4	C	A	7: 44,964,497 (GRCm39)	W533C	probably damaging	Het
Tsen54	T	C	11: 115,712,538 (GRCm39)	Y119H	possibly damaging	Het
Tulp3	G	A	6: 128,304,597 (GRCm39)	T219M	probably damaging	Het
Usp19	T	C	9: 108,376,160 (GRCm39)	L1000S	possibly damaging	Het
Vps16	A	T	2: 130,279,616 (GRCm39)	Y43F	probably benign	Het

Other mutations in Vsig1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8039: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

Posted On

2013-10-07