Incidental Mutation 'R8042:Vsig1'
ID 618602
Institutional Source Beutler Lab
Gene Symbol Vsig1
Ensembl Gene ENSMUSG00000031430
Gene Name V-set and immunoglobulin domain containing 1
Synonyms 1700062D20Rik, 4930405J24Rik
MMRRC Submission 067479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R8042 (G1)
Quality Score 221.999
Status Validated
Chromosome X
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

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 120,002,233 (GRCm39) Y1582C possibly damaging Het
Acly A G 11: 100,405,151 (GRCm39) I339T probably damaging Het
Adcy4 A G 14: 56,012,696 (GRCm39) V541A probably benign Het
Arhgef3 T A 14: 27,084,766 (GRCm39) V45D possibly damaging Het
Azi2 C A 9: 117,891,165 (GRCm39) Q397K probably benign Het
Cacna1h G T 17: 25,611,445 (GRCm39) S451* probably null Het
Cacna2d3 A T 14: 28,826,995 (GRCm39) probably benign Het
Cep85l A G 10: 53,224,759 (GRCm39) Y277H probably damaging Het
Cep97 C A 16: 55,731,965 (GRCm39) V608L probably benign Het
Crb1 T A 1: 139,242,392 (GRCm39) Y362F probably damaging Het
Ctc1 T A 11: 68,920,669 (GRCm39) probably benign Het
Dnah14 T C 1: 181,471,196 (GRCm39) probably null Het
Dock4 T C 12: 40,795,759 (GRCm39) F859L probably benign Het
Errfi1 T C 4: 150,950,914 (GRCm39) F114S possibly damaging Het
Gbp9 T A 5: 105,242,108 (GRCm39) I150F probably damaging Het
Loxhd1 C T 18: 77,518,888 (GRCm39) T1898M probably damaging Het
Lrrc9 A T 12: 72,507,680 (GRCm39) T394S probably benign Het
Ltbp2 T C 12: 84,838,673 (GRCm39) E1115G probably damaging Het
Mast4 T C 13: 102,917,753 (GRCm39) S552G probably damaging Het
Mgat4b T A 11: 50,123,203 (GRCm39) Y263* probably null Het
Moxd2 T C 6: 40,862,301 (GRCm39) I173V probably benign Het
Mrc2 T C 11: 105,239,181 (GRCm39) V1312A probably damaging Het
Myh1 A T 11: 67,097,429 (GRCm39) I465F probably damaging Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nt5dc1 T C 10: 34,273,210 (GRCm39) D196G probably benign Het
Obscn T C 11: 58,931,143 (GRCm39) D5028G possibly damaging Het
Pabpc1 A G 15: 36,598,553 (GRCm39) F447S probably benign Het
Pcsk6 T G 7: 65,577,683 (GRCm39) N201K possibly damaging Het
Pml C A 9: 58,141,968 (GRCm39) R288L probably benign Het
Ptpro A G 6: 137,393,881 (GRCm39) T850A possibly damaging Het
Rnf213 A G 11: 119,332,480 (GRCm39) D2564G Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sec24a T C 11: 51,595,144 (GRCm39) T939A probably benign Het
Serpine1 A T 5: 137,095,855 (GRCm39) L242H probably benign Het
Slc27a4 T A 2: 29,701,202 (GRCm39) V331E probably damaging Het
Slc6a6 A C 6: 91,718,226 (GRCm39) I347L probably benign Het
Spns2 A T 11: 72,345,003 (GRCm39) L495H possibly damaging Het
Stam2 A G 2: 52,596,409 (GRCm39) probably null Het
Syt12 C A 19: 4,503,852 (GRCm39) V260F probably damaging Het
Tdrd7 T A 4: 45,987,516 (GRCm39) S50T possibly damaging Het
Tert T A 13: 73,775,264 (GRCm39) V39E probably damaging Het
Tmem147 T A 7: 30,427,978 (GRCm39) S75C probably damaging Het
Tnpo2 C T 8: 85,778,188 (GRCm39) P564S probably damaging Het
Utp25 A G 1: 192,796,980 (GRCm39) V1A Het
Zfp738 A G 13: 67,819,010 (GRCm39) L327S probably 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
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
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