Incidental Mutation 'R4616:Vsig1'
ID 351079
Institutional Source Beutler Lab
Gene Symbol Vsig1
Ensembl Gene ENSMUSG00000031430
Gene Name V-set and immunoglobulin domain containing 1
Synonyms 1700062D20Rik, 4930405J24Rik
MMRRC Submission 041827-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4616 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 139808357-139840221 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 139827135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 95 (A95S)
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: A95S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000033806
Gene: ENSMUSG00000031430
AA Change: A95S

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 C T 14: 103,292,781 (GRCm39) T435M probably benign Het
Adgrf5 T C 17: 43,763,331 (GRCm39) F1078L probably benign Het
Adh6a A T 3: 138,030,708 (GRCm39) N110I probably damaging Het
Aldh16a1 T C 7: 44,798,212 (GRCm39) probably benign Het
Aopep G A 13: 63,446,565 (GRCm39) E123K probably damaging Het
Arhgef17 A G 7: 100,531,692 (GRCm39) F1302S probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bpifa6 T C 2: 153,824,908 (GRCm39) S28P possibly damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Cfb T A 17: 35,078,044 (GRCm39) H962L probably benign Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Clec16a T A 16: 10,462,747 (GRCm39) probably null Het
Cyp1a1 T C 9: 57,609,039 (GRCm39) S307P probably benign Het
Dsg3 T C 18: 20,664,616 (GRCm39) V538A probably benign Het
Erbb3 G A 10: 128,408,639 (GRCm39) Q815* probably null Het
Fam90a1a C A 8: 22,453,862 (GRCm39) Q406K possibly damaging Het
Frmd3 T C 4: 74,106,109 (GRCm39) V585A probably benign Het
Gm8214 T C 1: 183,414,094 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,168,799 (GRCm39) G771D probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Gria2 A T 3: 80,614,204 (GRCm39) I612N probably damaging Het
Ifit1bl1 T C 19: 34,572,010 (GRCm39) E149G probably damaging Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Ighv2-9 G T 12: 113,842,839 (GRCm39) T76K probably damaging Het
Igkv6-13 A T 6: 70,435,019 (GRCm39) M1K probably null Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Itpr1 A G 6: 108,458,184 (GRCm39) N1985D probably damaging Het
Jkampl A G 6: 73,446,252 (GRCm39) V99A probably benign Het
Lama3 T C 18: 12,637,454 (GRCm39) probably null Het
Lamc2 T C 1: 153,041,915 (GRCm39) Y73C probably damaging Het
Maff A G 15: 79,241,898 (GRCm39) D105G probably damaging Het
Mep1a C T 17: 43,797,132 (GRCm39) V312M possibly damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrgbp A T 2: 180,227,107 (GRCm39) silent Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Myo7b T C 18: 32,136,540 (GRCm39) probably null Het
Myo9a T C 9: 59,728,932 (GRCm39) I596T probably damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Or52e3 C T 7: 102,869,629 (GRCm39) R235* probably null Het
Pcsk5 T G 19: 17,538,114 (GRCm39) Q904H probably benign Het
Pdzrn3 G T 6: 101,128,970 (GRCm39) H565Q probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pomgnt1 T A 4: 116,012,087 (GRCm39) I337N probably damaging Het
Psmd3 T C 11: 98,573,752 (GRCm39) V66A probably benign Het
Ptger3 T C 3: 157,272,931 (GRCm39) S93P probably damaging Het
Rbm27 T A 18: 42,434,840 (GRCm39) D301E probably damaging Het
Rdh16 A T 10: 127,637,382 (GRCm39) probably null Het
Slc35a5 A T 16: 44,964,655 (GRCm39) F193I probably benign Het
Slc4a4 A G 5: 89,186,420 (GRCm39) K167R probably damaging Het
Sort1 A T 3: 108,262,857 (GRCm39) T772S possibly damaging Het
Sptbn5 T A 2: 119,879,238 (GRCm39) noncoding transcript Het
Stard5 G T 7: 83,282,489 (GRCm39) probably benign Het
Tbc1d22a A G 15: 86,119,886 (GRCm39) T61A probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Usp53 A T 3: 122,752,769 (GRCm39) M80K probably damaging Het
Vmn1r209 A T 13: 22,990,135 (GRCm39) L185Q probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Zfhx4 T C 3: 5,478,127 (GRCm39) S3556P possibly damaging Het
Other mutations in Vsig1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGCCTCACTAAACTGAGAAATCTAG -3'
(R):5'- TTGATACTGTAGCCCAGAGACTTG -3'

Sequencing Primer
(F):5'- CTGAGAAATCTAGGCTCCCAGG -3'
(R):5'- GTAGCCCAGAGACTTGATTCATTCAC -3'
Posted On 2015-10-08