Incidental Mutation 'IGL03289:Igsf5'
ID415835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igsf5
Ensembl Gene ENSMUSG00000000159
Gene Nameimmunoglobulin superfamily, member 5
SynonymsIgsf5, Jam4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL03289
Quality Score
Status
Chromosome16
Chromosomal Location96361668-96525580 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 96525432 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 271 (D271V)
Ref Sequence ENSEMBL: ENSMUSP00000109426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061739] [ENSMUST00000113795]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061739
AA Change: D35V

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000113795
AA Change: D271V

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159
AA Change: D271V

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 125 4.74e-5 SMART
transmembrane domain 139 161 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in no obvious abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 A G 11: 61,877,968 probably benign Het
Akap9 A G 5: 4,077,261 Y3703C probably damaging Het
Ankk1 A G 9: 49,415,695 V728A probably benign Het
B3galt2 T C 1: 143,647,304 Y393H probably damaging Het
Cd163l1 T C 7: 140,229,060 probably null Het
Clcn4 T A 7: 7,284,258 I664F probably damaging Het
Clec2e A T 6: 129,098,455 I41N probably damaging Het
Col2a1 A T 15: 97,980,881 N845K unknown Het
Cubn T G 2: 13,426,967 I1272L probably benign Het
Dnajc5 T C 2: 181,547,467 Y79H probably damaging Het
Eml6 G T 11: 29,795,328 A1006E possibly damaging Het
Kalrn G A 16: 34,385,297 A70V possibly damaging Het
Kcnn2 A T 18: 45,677,044 K309N probably damaging Het
Lrch4 T C 5: 137,633,577 S22P probably damaging Het
Mcpt2 A T 14: 56,044,337 I215F probably damaging Het
Mrc1 T C 2: 14,308,823 probably null Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Olfr364-ps1 C T 2: 37,146,578 A122V probably damaging Het
Osbp2 A G 11: 3,863,380 V163A probably benign Het
Pla2g6 G A 15: 79,317,785 P62L probably damaging Het
Senp1 G T 15: 98,085,045 H20Q probably damaging Het
Slc16a6 A G 11: 109,463,499 Y31H probably damaging Het
Thbs2 T A 17: 14,690,122 N72Y probably benign Het
Usp34 T A 11: 23,393,818 S1366T possibly damaging Het
Vmn1r216 T A 13: 23,100,012 D288E possibly damaging Het
Vmn2r11 T C 5: 109,048,922 probably benign Het
Vnn3 A T 10: 23,865,837 S347C possibly damaging Het
Yme1l1 T C 2: 23,160,268 V37A probably benign Het
Zfp597 A T 16: 3,865,922 D323E possibly damaging Het
Other mutations in Igsf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Igsf5 APN 16 96391020 missense possibly damaging 0.72
IGL01335:Igsf5 APN 16 96373153 splice site probably benign
IGL02576:Igsf5 APN 16 96386581 missense probably benign 0.23
IGL02721:Igsf5 APN 16 96391022 missense probably damaging 0.98
R0630:Igsf5 UTSW 16 96372823 splice site probably benign
R1858:Igsf5 UTSW 16 96386629 splice site probably null
R1961:Igsf5 UTSW 16 96378351 missense probably damaging 1.00
R2508:Igsf5 UTSW 16 96364047 missense probably benign 0.01
R4491:Igsf5 UTSW 16 96364081 missense probably benign 0.02
R5123:Igsf5 UTSW 16 96373079 missense probably damaging 1.00
R5262:Igsf5 UTSW 16 96391037 nonsense probably null
R5384:Igsf5 UTSW 16 96391026 missense probably benign 0.21
R5558:Igsf5 UTSW 16 96386531 missense possibly damaging 0.95
R5950:Igsf5 UTSW 16 96372872 missense probably benign 0.07
R5957:Igsf5 UTSW 16 96364049 missense probably benign 0.10
R6199:Igsf5 UTSW 16 96421739 missense possibly damaging 0.66
R6298:Igsf5 UTSW 16 96396448 missense possibly damaging 0.93
R7164:Igsf5 UTSW 16 96372848 missense possibly damaging 0.85
R7197:Igsf5 UTSW 16 96403346 missense probably damaging 1.00
Z1176:Igsf5 UTSW 16 96391023 missense probably damaging 1.00
Z1177:Igsf5 UTSW 16 96378333 missense probably benign 0.06
Posted On2016-08-02