Incidental Mutation 'IGL01903:Sh3bp5l'
ID179601
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: 0.111) question?
Stock #IGL01903
Quality Score
Status
Chromosome11
Chromosomal Location58330724-58347728 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58346038 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 274 (R274G)
Ref Sequence ENSEMBL: ENSMUSP00000112077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073128] [ENSMUST00000116376]
Predicted Effect probably damaging
Transcript: ENSMUST00000073128
AA Change: R274G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000072872
Gene: ENSMUSG00000013646
AA Change: R274G

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: R274G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112077
Gene: ENSMUSG00000013646
AA Change: R274G

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: ENSMUST00000127119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154278
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 122,155,401 probably benign Het
Adad1 T A 3: 37,085,082 probably null Het
Asxl3 T A 18: 22,434,576 D70E probably benign Het
Atat1 T A 17: 35,897,800 I380L probably benign Het
Ccnj A G 19: 40,846,010 E351G probably damaging Het
Clca4b A T 3: 144,928,259 Y132N probably damaging Het
Cttnbp2 A C 6: 18,501,965 V16G probably damaging Het
Gcdh A T 8: 84,888,604 L389Q probably damaging Het
Ggta1 A T 2: 35,402,557 F258Y possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3696 T A 14: 7,089,782 probably benign Het
Gramd3 A T 18: 56,474,029 S72C probably damaging Het
Hal G A 10: 93,500,607 probably benign Het
Haus4 A T 14: 54,542,429 S288T possibly damaging Het
Herc1 A T 9: 66,386,872 K499* probably null Het
Hyou1 C T 9: 44,381,141 probably benign Het
Kng2 C T 16: 22,987,790 R553Q possibly damaging Het
Leng9 G A 7: 4,148,747 A310V probably damaging Het
Magi3 G T 3: 104,051,210 Q520K possibly damaging Het
Mark1 A G 1: 184,929,380 probably benign Het
Mybl1 T A 1: 9,671,576 probably null Het
Ncapd2 A G 6: 125,177,460 S598P probably benign Het
Olfr1110 A C 2: 87,135,379 probably null Het
Olfr126 T C 17: 37,609,867 I295V possibly damaging Het
Olfr1297 T C 2: 111,621,658 K139E probably benign Het
Olfr1441 G A 19: 12,422,683 V125I probably benign Het
Otud6b C T 4: 14,818,458 E148K probably benign Het
Pgghg A G 7: 140,946,828 Q686R probably benign Het
Pkhd1 C A 1: 20,198,137 C3339F probably damaging Het
Pla2g4a T C 1: 149,840,619 D697G possibly damaging Het
Serping1 A T 2: 84,769,772 probably null Het
Sfxn4 T C 19: 60,858,680 Y55C probably damaging Het
Snx13 A G 12: 35,085,969 T88A probably benign Het
Spz1 G T 13: 92,574,899 N356K probably damaging Het
Taf2 A T 15: 55,060,016 F288L probably benign Het
Tti1 T C 2: 158,000,622 E829G probably benign Het
Ube2z T C 11: 96,065,000 D92G possibly damaging Het
Vmn2r7 A G 3: 64,719,443 Y142H probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp397 T A 18: 23,960,029 N190K probably benign Het
Other mutations in Sh3bp5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Sh3bp5l APN 11 58346060 missense probably benign 0.01
IGL01503:Sh3bp5l APN 11 58338001 missense probably damaging 1.00
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
R7762:Sh3bp5l UTSW 11 58345928 critical splice acceptor site probably null
R8200:Sh3bp5l UTSW 11 58331859 missense probably damaging 1.00
Posted On2014-05-07