Incidental Mutation 'IGL02721:Igsf5'
ID 305014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igsf5
Ensembl Gene ENSMUSG00000000159
Gene Name immunoglobulin superfamily, member 5
Synonyms Igsf5, Jam4, 2010003D20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL02721
Quality Score
Status
Chromosome 16
Chromosomal Location 96162868-96223321 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96192222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 274 (S274T)
Ref Sequence ENSEMBL: ENSMUSP00000109425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000163] [ENSMUST00000081093] [ENSMUST00000113794] [ENSMUST00000113795]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000000163
AA Change: S274T

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000163
Gene: ENSMUSG00000000159
AA Change: S274T

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 127 9.63e-6 SMART
IG 134 221 2.64e0 SMART
transmembrane domain 239 261 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000081093
AA Change: S174T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079874
Gene: ENSMUSG00000000159
AA Change: S174T

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 125 4.74e-5 SMART
transmembrane domain 139 161 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113794
AA Change: S274T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109425
Gene: ENSMUSG00000000159
AA Change: S274T

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 127 9.63e-6 SMART
IG 134 221 2.64e0 SMART
transmembrane domain 239 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113795
AA Change: S174T

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159
AA Change: S174T

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 125 4.74e-5 SMART
transmembrane domain 139 161 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139595
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,888,124 (GRCm39) I398L probably benign Het
4931414P19Rik A G 14: 54,823,202 (GRCm39) S332P probably damaging Het
Abca7 T C 10: 79,849,469 (GRCm39) S1877P possibly damaging Het
Adora2b G T 11: 62,155,931 (GRCm39) A127S probably damaging Het
Ahnak A G 19: 8,987,071 (GRCm39) K2785R probably benign Het
Anapc2 G A 2: 25,164,680 (GRCm39) W21* probably null Het
Atp7b A G 8: 22,512,493 (GRCm39) S457P probably benign Het
Catsperb A G 12: 101,591,556 (GRCm39) Q1046R probably null Het
Comp A T 8: 70,828,731 (GRCm39) N188Y probably damaging Het
Crnkl1 A T 2: 145,765,801 (GRCm39) I423K possibly damaging Het
Crtap A T 9: 114,210,707 (GRCm39) V289E probably damaging Het
Ctnna2 T C 6: 76,958,852 (GRCm39) N454S probably damaging Het
Dnah5 A T 15: 28,234,389 (GRCm39) probably null Het
Dstyk T G 1: 132,377,054 (GRCm39) V220G probably benign Het
E230025N22Rik C T 18: 36,828,664 (GRCm39) V5M probably damaging Het
Fam111a T G 19: 12,564,336 (GRCm39) N28K probably benign Het
Fbxo32 A G 15: 58,046,358 (GRCm39) I284T possibly damaging Het
Fgb A C 3: 82,950,674 (GRCm39) V360G possibly damaging Het
Gm3404 A T 5: 146,463,738 (GRCm39) R128* probably null Het
Hal G T 10: 93,343,360 (GRCm39) G535* probably null Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Kdm7a C T 6: 39,150,371 (GRCm39) A134T possibly damaging Het
Klhl25 G T 7: 75,516,648 (GRCm39) W518L probably damaging Het
Map1a A T 2: 121,134,518 (GRCm39) D1778V probably benign Het
Nif3l1 A G 1: 58,497,008 (GRCm39) D311G probably damaging Het
Numa1 A G 7: 101,649,118 (GRCm39) T950A probably benign Het
Nup54 A T 5: 92,565,716 (GRCm39) I406N possibly damaging Het
Or10ab5 G T 7: 108,245,582 (GRCm39) S67* probably null Het
Or2y1d T A 11: 49,321,468 (GRCm39) L55* probably null Het
Or6c210 C T 10: 129,495,824 (GRCm39) P50S probably benign Het
Or6c211 A T 10: 129,505,992 (GRCm39) I132N probably benign Het
Pcdhb18 T A 18: 37,623,084 (GRCm39) M138K probably benign Het
Pik3c2g A G 6: 139,682,699 (GRCm39) T27A probably benign Het
Plekhb2 A G 1: 34,908,445 (GRCm39) N163S probably benign Het
Ros1 G A 10: 52,048,927 (GRCm39) probably benign Het
Sh3gl1 A G 17: 56,324,577 (GRCm39) L357P possibly damaging Het
Skint5 T A 4: 113,799,746 (GRCm39) D141V probably damaging Het
Slc10a5 A G 3: 10,399,595 (GRCm39) V355A probably benign Het
Speer1c T C 5: 10,293,883 (GRCm39) K106E probably damaging Het
Ssh2 G T 11: 77,345,551 (GRCm39) G1179* probably null Het
Syde2 A G 3: 145,707,759 (GRCm39) N566S probably damaging Het
Sytl1 T C 4: 132,986,189 (GRCm39) R149G probably benign Het
Tnpo2 A G 8: 85,781,319 (GRCm39) probably null Het
Top2b T C 14: 16,409,236 (GRCm38) L793P probably damaging Het
U2surp T A 9: 95,356,488 (GRCm39) E789D probably benign Het
Vps13c G A 9: 67,871,431 (GRCm39) probably benign Het
Zbtb34 C T 2: 33,301,270 (GRCm39) G424R probably damaging Het
Zfhx4 A G 3: 5,308,367 (GRCm39) D531G possibly damaging Het
Zfp787 C T 7: 6,135,463 (GRCm39) probably null Het
Other mutations in Igsf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Igsf5 APN 16 96,192,220 (GRCm39) missense possibly damaging 0.72
IGL01335:Igsf5 APN 16 96,174,353 (GRCm39) splice site probably benign
IGL02576:Igsf5 APN 16 96,187,781 (GRCm39) missense probably benign 0.23
IGL03289:Igsf5 APN 16 96,326,632 (GRCm39) missense possibly damaging 0.94
R0630:Igsf5 UTSW 16 96,174,023 (GRCm39) splice site probably benign
R1858:Igsf5 UTSW 16 96,187,829 (GRCm39) splice site probably null
R1961:Igsf5 UTSW 16 96,179,551 (GRCm39) missense probably damaging 1.00
R2508:Igsf5 UTSW 16 96,165,247 (GRCm39) missense probably benign 0.01
R4491:Igsf5 UTSW 16 96,165,281 (GRCm39) missense probably benign 0.02
R5123:Igsf5 UTSW 16 96,174,279 (GRCm39) missense probably damaging 1.00
R5262:Igsf5 UTSW 16 96,192,237 (GRCm39) nonsense probably null
R5384:Igsf5 UTSW 16 96,192,226 (GRCm39) missense probably benign 0.21
R5558:Igsf5 UTSW 16 96,187,731 (GRCm39) missense possibly damaging 0.95
R5950:Igsf5 UTSW 16 96,174,072 (GRCm39) missense probably benign 0.07
R5957:Igsf5 UTSW 16 96,165,249 (GRCm39) missense probably benign 0.10
R6199:Igsf5 UTSW 16 96,222,939 (GRCm39) missense possibly damaging 0.66
R6298:Igsf5 UTSW 16 96,197,648 (GRCm39) missense possibly damaging 0.93
R7164:Igsf5 UTSW 16 96,174,048 (GRCm39) missense possibly damaging 0.85
R7197:Igsf5 UTSW 16 96,204,546 (GRCm39) missense probably damaging 1.00
R8213:Igsf5 UTSW 16 96,174,188 (GRCm39) missense probably damaging 1.00
R8353:Igsf5 UTSW 16 96,222,996 (GRCm39) missense probably benign 0.00
R8453:Igsf5 UTSW 16 96,222,996 (GRCm39) missense probably benign 0.00
R8823:Igsf5 UTSW 16 96,222,939 (GRCm39) missense possibly damaging 0.66
R9798:Igsf5 UTSW 16 96,174,075 (GRCm39) missense probably damaging 1.00
Z1176:Igsf5 UTSW 16 96,192,223 (GRCm39) missense probably damaging 1.00
Z1177:Igsf5 UTSW 16 96,179,533 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16