Incidental Mutation 'IGL01592:Igsf6'
ID91614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igsf6
Ensembl Gene ENSMUSG00000035004
Gene Nameimmunoglobulin superfamily, member 6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL01592
Quality Score
Status
Chromosome7
Chromosomal Location121064067-121074572 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121070793 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 42 (Y42C)
Ref Sequence ENSEMBL: ENSMUSP00000039059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033163] [ENSMUST00000047194] [ENSMUST00000207351]
Predicted Effect probably benign
Transcript: ENSMUST00000033163
SMART Domains Protein: ENSMUSP00000033163
Gene: ENSMUSG00000030876

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 39 50 N/A INTRINSIC
Pfam:DREV 56 317 1.4e-142 PFAM
Pfam:Methyltransf_23 123 289 2.7e-12 PFAM
Pfam:Methyltransf_12 150 236 9.1e-10 PFAM
Pfam:Methyltransf_11 150 238 9.4e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000047194
AA Change: Y42C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039059
Gene: ENSMUSG00000035004
AA Change: Y42C

DomainStartEndE-ValueType
IG 35 142 2.79e-2 SMART
transmembrane domain 154 176 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207835
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 A G 12: 53,142,142 D2113G probably damaging Het
Atf6b T A 17: 34,649,137 V125E probably damaging Het
Cdan1 T A 2: 120,725,985 Y653F probably damaging Het
Ces1d A G 8: 93,195,089 probably benign Het
Dnah2 G T 11: 69,431,087 N3802K probably benign Het
Dnah5 A G 15: 28,236,637 I370V probably benign Het
Dpp10 T C 1: 123,334,370 E761G probably damaging Het
Dusp19 A G 2: 80,617,481 E33G probably damaging Het
E2f7 T A 10: 110,746,406 D25E possibly damaging Het
E2f8 T C 7: 48,867,857 T733A probably damaging Het
Golga1 T C 2: 39,063,282 E32G probably damaging Het
Grip1 T A 10: 119,930,003 V80E probably damaging Het
Katna1 T G 10: 7,741,454 M70R probably damaging Het
Limk2 T C 11: 3,359,052 K102R probably benign Het
Lypla1 T A 1: 4,828,651 probably null Het
Olfr373 T A 8: 72,100,512 F251I probably damaging Het
Olfr810 A G 10: 129,791,319 I90T probably damaging Het
Pgap1 G A 1: 54,521,311 P444L probably damaging Het
Pigr G A 1: 130,849,058 V657M probably damaging Het
Plscr1 T A 9: 92,266,750 Y214* probably null Het
Polq A C 16: 37,034,850 I436L probably benign Het
Ppfia2 T A 10: 106,836,048 probably benign Het
Serpina12 A G 12: 104,038,122 S84P probably damaging Het
Slc30a6 T A 17: 74,419,528 probably benign Het
Trim38 A G 13: 23,791,427 T450A possibly damaging Het
Ubqlnl A T 7: 104,150,289 probably benign Het
Vmn2r24 A G 6: 123,787,486 K441E probably benign Het
Wnt8a A G 18: 34,544,793 T85A probably damaging Het
Other mutations in Igsf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Igsf6 APN 7 121070653 nonsense probably null
IGL02519:Igsf6 APN 7 121068273 missense possibly damaging 0.72
IGL02636:Igsf6 APN 7 121067280 intron probably benign
R0106:Igsf6 UTSW 7 121074454 missense probably benign 0.28
R0106:Igsf6 UTSW 7 121074454 missense probably benign 0.28
R1776:Igsf6 UTSW 7 121068299 missense probably damaging 0.97
R1817:Igsf6 UTSW 7 121070808 missense probably damaging 1.00
R7770:Igsf6 UTSW 7 121068325 missense probably benign 0.01
Posted On2013-12-09