Incidental Mutation 'IGL00980:Icosl'
ID28431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Icosl
Ensembl Gene ENSMUSG00000000732
Gene Nameicos ligand
SynonymsB7h, B7-H2, B7RP-1, GL50, GL50-B, ICOS-L, LICOS
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL00980
Quality Score
Status
Chromosome10
Chromosomal Location78069302-78083913 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78071971 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 122 (S122P)
Ref Sequence ENSEMBL: ENSMUSP00000101032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105393]
Predicted Effect probably damaging
Transcript: ENSMUST00000105393
AA Change: S122P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101032
Gene: ENSMUSG00000000732
AA Change: S122P

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
IG 47 161 4.67e-4 SMART
Pfam:C2-set_2 165 253 5.2e-9 PFAM
transmembrane domain 280 299 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217675
Predicted Effect unknown
Transcript: ENSMUST00000219038
AA Change: S118P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219633
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene exhibit defects in the humoral immune response associated with an impaired interactions between T and B cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C T 3: 37,000,041 T3103I probably damaging Het
Adam2 A T 14: 66,056,528 Y283* probably null Het
Bend3 C A 10: 43,511,566 Q652K probably damaging Het
Ccdc136 G A 6: 29,420,258 S992N probably damaging Het
Cct6a T C 5: 129,791,793 probably benign Het
Cd74 A T 18: 60,811,326 I203F probably benign Het
Cd8b1 C A 6: 71,332,479 C182* probably null Het
Cmtr1 T A 17: 29,691,284 D454E probably benign Het
Cyp2b13 T A 7: 26,081,727 F188Y probably benign Het
Dppa2 T C 16: 48,311,686 S49P possibly damaging Het
Fhl5 G T 4: 25,207,181 L196I possibly damaging Het
Gimap4 T A 6: 48,690,938 V81D probably damaging Het
Gm4884 T G 7: 41,043,726 M373R probably damaging Het
Gnrhr C T 5: 86,197,303 probably null Het
H2-Oa T G 17: 34,094,563 L196R probably damaging Het
Itpr3 A G 17: 27,110,956 T1575A probably benign Het
Krt80 T C 15: 101,349,998 K373E possibly damaging Het
Lamp1 G A 8: 13,171,195 probably benign Het
Npvf T C 6: 50,650,885 K185E probably damaging Het
Nuf2 A G 1: 169,510,434 M258T probably damaging Het
Olfr1416 T C 1: 92,479,680 probably null Het
Olfr883 G A 9: 38,025,811 V2I probably benign Het
Smurf2 A C 11: 106,836,095 I469S probably damaging Het
Soat1 T A 1: 156,441,341 H180L probably benign Het
Spink5 G T 18: 44,007,710 D659Y probably damaging Het
Sprtn T C 8: 124,900,298 M139T probably damaging Het
Tas2r137 T C 6: 40,491,418 S61P possibly damaging Het
Tec G A 5: 72,786,798 L89F probably damaging Het
Trav21-dv12 A T 14: 53,876,650 M76L probably benign Het
Ttc7 A C 17: 87,321,446 T271P possibly damaging Het
Tyk2 G A 9: 21,120,588 T397I probably benign Het
Ugt1a6b T A 1: 88,107,605 Y222N possibly damaging Het
Vmn2r2 A T 3: 64,117,180 M660K probably benign Het
Vmn2r52 T A 7: 10,171,090 Y274F probably damaging Het
Wscd1 A C 11: 71,788,942 N547T possibly damaging Het
Zfp335 C A 2: 164,902,674 E394* probably null Het
Other mutations in Icosl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02540:Icosl APN 10 78069536 critical splice donor site probably null
R0304:Icosl UTSW 10 78075322 missense probably benign
R0512:Icosl UTSW 10 78071966 missense possibly damaging 0.77
R0584:Icosl UTSW 10 78071875 missense possibly damaging 0.82
R0711:Icosl UTSW 10 78073941 missense probably damaging 1.00
R2005:Icosl UTSW 10 78071953 missense possibly damaging 0.63
R2006:Icosl UTSW 10 78071953 missense possibly damaging 0.63
R2189:Icosl UTSW 10 78073925 missense possibly damaging 0.62
R3417:Icosl UTSW 10 78072035 missense possibly damaging 0.46
R4423:Icosl UTSW 10 78071873 missense possibly damaging 0.92
R5183:Icosl UTSW 10 78069485 unclassified probably benign
R5579:Icosl UTSW 10 78073763 missense probably damaging 0.99
R6388:Icosl UTSW 10 78069532 missense possibly damaging 0.96
R7336:Icosl UTSW 10 78073873 nonsense probably null
Posted On2013-04-17