Incidental Mutation 'IGL01503:Sh3bp5l'
ID88963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3bp5l
Ensembl Gene ENSMUSG00000013646
Gene NameSH3 binding domain protein 5 like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL01503
Quality Score
Status
Chromosome11
Chromosomal Location58330724-58347728 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58338001 bp
ZygosityHeterozygous
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]
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: 89,174,869 Y26* probably null Het
Arpc1a T C 5: 145,096,154 V91A probably damaging Het
Atp2a1 T A 7: 126,448,578 I687F probably damaging Het
B3gnt5 A C 16: 19,769,781 Y250S probably damaging Het
Brip1 A G 11: 86,061,877 V1026A probably benign Het
C1s2 T C 6: 124,625,653 D527G probably damaging Het
Chrna5 T A 9: 54,998,171 probably benign Het
Cltc C A 11: 86,695,700 probably benign Het
Dgkh T G 14: 78,616,270 I439L possibly damaging Het
Dnajc16 G A 4: 141,763,697 T714I possibly damaging Het
Fam13a A T 6: 58,956,080 I349N probably damaging Het
Fig4 C T 10: 41,256,518 D431N probably benign Het
Gabra4 A T 5: 71,641,086 N183K possibly damaging Het
Ggt5 C T 10: 75,610,110 probably benign Het
Gm436 T A 4: 144,674,567 I116F probably damaging Het
Hdac6 A G X: 7,932,179 L798P probably damaging Het
Hectd4 T C 5: 121,318,651 V2030A probably benign Het
Hecw2 A G 1: 53,826,961 Y1514H probably damaging Het
Hmcn1 T C 1: 150,605,072 D4451G probably benign Het
Krtcap3 T C 5: 31,251,823 probably benign Het
Ltn1 A T 16: 87,420,807 probably benign Het
Mapkapk2 T C 1: 131,058,762 M1V probably null Het
Mical3 A T 6: 120,958,576 I1663N probably benign Het
Mvp G T 7: 127,001,961 probably benign Het
Myo5c A G 9: 75,263,042 I485V probably damaging Het
N4bp2 T A 5: 65,803,547 C520* probably null Het
Nos2 A G 11: 78,945,863 probably benign Het
Ogdh G A 11: 6,355,069 V925M probably damaging Het
Pde2a T A 7: 101,501,936 probably benign Het
Plpp6 A G 19: 28,964,879 *293W probably null Het
Pole T A 5: 110,303,884 I864K probably damaging Het
Rexo4 A T 2: 26,960,633 I239N probably benign Het
Scn1a T A 2: 66,322,343 I748F probably damaging Het
Sfmbt2 A T 2: 10,579,354 R841* probably null Het
Spic T A 10: 88,675,761 D211V probably damaging Het
Stab2 A G 10: 86,940,613 probably benign Het
Tshr A G 12: 91,511,934 Y83C probably damaging Het
Vsir A G 10: 60,368,594 E172G probably damaging Het
Wwp2 T C 8: 107,549,781 S508P probably damaging Het
Other mutations in Sh3bp5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Sh3bp5l APN 11 58346060 missense probably benign 0.01
IGL01903:Sh3bp5l APN 11 58346038 missense probably damaging 0.96
IGL02556:Sh3bp5l APN 11 58346261 missense probably damaging 1.00
IGL02755:Sh3bp5l APN 11 58338003 missense probably benign
R0746:Sh3bp5l UTSW 11 58346347 missense probably benign 0.06
R1801:Sh3bp5l UTSW 11 58346351 missense probably benign
R4646:Sh3bp5l UTSW 11 58346351 missense probably benign
R5049:Sh3bp5l UTSW 11 58338124 intron probably benign
R5715:Sh3bp5l UTSW 11 58346015 missense possibly damaging 0.81
R6791:Sh3bp5l UTSW 11 58346272 missense probably damaging 0.99
R6882:Sh3bp5l UTSW 11 58331699 missense probably benign
R7251:Sh3bp5l UTSW 11 58341302 missense probably damaging 1.00
Posted On2013-12-03