Incidental Mutation 'IGL01503:Sh3bp5l'
ID 88963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3bp5l
Ensembl Gene ENSMUSG00000013646
Gene Name SH3 binding domain protein 5 like
Synonyms 2310074E09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL01503
Quality Score
Status
Chromosome 11
Chromosomal Location 58221550-58238554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58228827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 100 (N100S)
Ref Sequence ENSEMBL: ENSMUSP00000112077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073128] [ENSMUST00000116376]
AlphaFold Q99LH9
Predicted Effect probably damaging
Transcript: ENSMUST00000073128
AA Change: N100S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072872
Gene: ENSMUSG00000013646
AA Change: N100S

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
Pfam:SH3BP5 52 289 1.3e-103 PFAM
low complexity region 296 337 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000116376
AA Change: N100S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112077
Gene: ENSMUSG00000013646
AA Change: N100S

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
Pfam:SH3BP5 54 280 2.5e-97 PFAM
low complexity region 296 337 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154278
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 88,971,757 (GRCm39) Y26* probably null Het
Aadacl4fm4 T A 4: 144,401,137 (GRCm39) I116F probably damaging Het
Arpc1a T C 5: 145,032,964 (GRCm39) V91A probably damaging Het
Atp2a1 T A 7: 126,047,750 (GRCm39) I687F probably damaging Het
B3gnt5 A C 16: 19,588,531 (GRCm39) Y250S probably damaging Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
C1s2 T C 6: 124,602,612 (GRCm39) D527G probably damaging Het
Chrna5 T A 9: 54,905,455 (GRCm39) probably benign Het
Cltc C A 11: 86,586,526 (GRCm39) probably benign Het
Dgkh T G 14: 78,853,710 (GRCm39) I439L possibly damaging Het
Dnajc16 G A 4: 141,491,008 (GRCm39) T714I possibly damaging Het
Fam13a A T 6: 58,933,065 (GRCm39) I349N probably damaging Het
Fig4 C T 10: 41,132,514 (GRCm39) D431N probably benign Het
Gabra4 A T 5: 71,798,429 (GRCm39) N183K possibly damaging Het
Ggt5 C T 10: 75,445,944 (GRCm39) probably benign Het
Hdac6 A G X: 7,798,418 (GRCm39) L798P probably damaging Het
Hectd4 T C 5: 121,456,714 (GRCm39) V2030A probably benign Het
Hecw2 A G 1: 53,866,120 (GRCm39) Y1514H probably damaging Het
Hmcn1 T C 1: 150,480,823 (GRCm39) D4451G probably benign Het
Krtcap3 T C 5: 31,409,167 (GRCm39) probably benign Het
Ltn1 A T 16: 87,217,695 (GRCm39) probably benign Het
Mapkapk2 T C 1: 130,986,499 (GRCm39) M1V probably null Het
Mical3 A T 6: 120,935,537 (GRCm39) I1663N probably benign Het
Mvp G T 7: 126,601,133 (GRCm39) probably benign Het
Myo5c A G 9: 75,170,324 (GRCm39) I485V probably damaging Het
N4bp2 T A 5: 65,960,890 (GRCm39) C520* probably null Het
Nos2 A G 11: 78,836,689 (GRCm39) probably benign Het
Ogdh G A 11: 6,305,069 (GRCm39) V925M probably damaging Het
Pde2a T A 7: 101,151,143 (GRCm39) probably benign Het
Plpp6 A G 19: 28,942,279 (GRCm39) *293W probably null Het
Pole T A 5: 110,451,750 (GRCm39) I864K probably damaging Het
Rexo4 A T 2: 26,850,645 (GRCm39) I239N probably benign Het
Scn1a T A 2: 66,152,687 (GRCm39) I748F probably damaging Het
Sfmbt2 A T 2: 10,584,165 (GRCm39) R841* probably null Het
Spic T A 10: 88,511,623 (GRCm39) D211V probably damaging Het
Stab2 A G 10: 86,776,477 (GRCm39) probably benign Het
Tshr A G 12: 91,478,708 (GRCm39) Y83C probably damaging Het
Vsir A G 10: 60,204,373 (GRCm39) E172G probably damaging Het
Wwp2 T C 8: 108,276,413 (GRCm39) S508P probably damaging Het
Other mutations in Sh3bp5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Sh3bp5l APN 11 58,236,886 (GRCm39) missense probably benign 0.01
IGL01903:Sh3bp5l APN 11 58,236,864 (GRCm39) missense probably damaging 0.96
IGL02556:Sh3bp5l APN 11 58,237,087 (GRCm39) missense probably damaging 1.00
IGL02755:Sh3bp5l APN 11 58,228,829 (GRCm39) missense probably benign
R0746:Sh3bp5l UTSW 11 58,237,173 (GRCm39) missense probably benign 0.06
R1801:Sh3bp5l UTSW 11 58,237,177 (GRCm39) missense probably benign
R4646:Sh3bp5l UTSW 11 58,237,177 (GRCm39) missense probably benign
R5049:Sh3bp5l UTSW 11 58,228,950 (GRCm39) intron probably benign
R5715:Sh3bp5l UTSW 11 58,236,841 (GRCm39) missense possibly damaging 0.81
R6791:Sh3bp5l UTSW 11 58,237,098 (GRCm39) missense probably damaging 0.99
R6882:Sh3bp5l UTSW 11 58,222,525 (GRCm39) missense probably benign
R7251:Sh3bp5l UTSW 11 58,232,128 (GRCm39) missense probably damaging 1.00
R7762:Sh3bp5l UTSW 11 58,236,754 (GRCm39) critical splice acceptor site probably null
R8200:Sh3bp5l UTSW 11 58,222,685 (GRCm39) missense probably damaging 1.00
R9642:Sh3bp5l UTSW 11 58,237,085 (GRCm39) nonsense probably null
Posted On 2013-12-03