Incidental Mutation 'IGL03023:Vsig2'
ID408043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vsig2
Ensembl Gene ENSMUSG00000001943
Gene NameV-set and immunoglobulin domain containing 2
SynonymsCTM, 1190004B15Rik, CTX, 2210413P10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.227) question?
Stock #IGL03023
Quality Score
Status
Chromosome9
Chromosomal Location37539255-37544205 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 37542412 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 136 (Y136C)
Ref Sequence ENSEMBL: ENSMUSP00000150115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002008] [ENSMUST00000002011] [ENSMUST00000065668] [ENSMUST00000213699] [ENSMUST00000214142] [ENSMUST00000215271] [ENSMUST00000215957]
Predicted Effect probably damaging
Transcript: ENSMUST00000002008
AA Change: Y216C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002008
Gene: ENSMUSG00000001943
AA Change: Y216C

DomainStartEndE-ValueType
IGv 41 124 4.03e-8 SMART
IGc2 158 225 1.06e-7 SMART
transmembrane domain 243 265 N/A INTRINSIC
low complexity region 315 326 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000002011
SMART Domains Protein: ENSMUSP00000002011
Gene: ENSMUSG00000001946

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
IG 39 153 4.82e-6 SMART
IGc2 168 234 1.17e-4 SMART
transmembrane domain 252 274 N/A INTRINSIC
low complexity region 319 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000065668
SMART Domains Protein: ENSMUSP00000070113
Gene: ENSMUSG00000053310

DomainStartEndE-ValueType
low complexity region 12 24 N/A INTRINSIC
IQ 25 47 1.92e-3 SMART
low complexity region 52 77 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213502
Predicted Effect probably damaging
Transcript: ENSMUST00000213699
AA Change: Y22C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214142
Predicted Effect probably damaging
Transcript: ENSMUST00000215271
AA Change: Y136C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215710
Predicted Effect probably benign
Transcript: ENSMUST00000215957
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,904,984 D28G probably damaging Het
BC067074 A G 13: 113,351,741 D99G probably benign Het
Btaf1 C T 19: 37,010,015 R1746C possibly damaging Het
Comp T C 8: 70,378,610 probably benign Het
Cyp2d9 A G 15: 82,455,518 T313A probably damaging Het
Cyp3a59 T A 5: 146,085,850 D55E probably benign Het
Dysf A G 6: 84,193,007 Y1790C probably damaging Het
Fmo3 A C 1: 162,958,465 F319V probably benign Het
Frem2 A T 3: 53,655,628 V486D probably benign Het
Gucy2c A T 6: 136,702,796 probably null Het
Hdac7 A T 15: 97,797,957 Y674N probably damaging Het
Inpp5a G A 7: 139,525,786 probably null Het
Jup T C 11: 100,380,692 probably benign Het
Krt84 T C 15: 101,528,445 T385A possibly damaging Het
Nbeal1 T C 1: 60,253,413 Y1075H probably damaging Het
Nphp4 A G 4: 152,524,235 probably null Het
Olfr109 A G 17: 37,466,994 T263A probably benign Het
Olfr1178 G A 2: 88,391,343 C32Y probably damaging Het
Olfr1333 A T 4: 118,830,252 F63I probably damaging Het
Psmc4 T A 7: 28,042,860 I264L possibly damaging Het
Rwdd4a T C 8: 47,542,768 V61A probably benign Het
Setx A G 2: 29,145,902 T800A probably benign Het
Vmn1r74 T C 7: 11,847,330 C186R possibly damaging Het
Other mutations in Vsig2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02096:Vsig2 APN 9 37539955 missense probably damaging 0.97
R0013:Vsig2 UTSW 9 37542576 splice site probably benign
R0013:Vsig2 UTSW 9 37542576 splice site probably benign
R0412:Vsig2 UTSW 9 37542690 missense probably damaging 1.00
R3422:Vsig2 UTSW 9 37541479 missense possibly damaging 0.70
R6917:Vsig2 UTSW 9 37541449 missense probably benign 0.02
Posted On2016-08-02