Incidental Mutation 'IGL02244:Sh3kbp1'
ID286110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3kbp1
Ensembl Gene ENSMUSG00000040990
Gene NameSH3-domain kinase binding protein 1
SynonymsIN85, 5830464D22Rik, 1700125L08Rik, Seta, Ruk, 1200007H22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.238) question?
Stock #IGL02244
Quality Score
Status
ChromosomeX
Chromosomal Location159627272-159978069 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 159803728 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 99 (R99W)
Ref Sequence ENSEMBL: ENSMUSP00000108075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073094] [ENSMUST00000080394] [ENSMUST00000112456] [ENSMUST00000123433] [ENSMUST00000141354]
Predicted Effect probably damaging
Transcript: ENSMUST00000073094
AA Change: R99W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072840
Gene: ENSMUSG00000040990
AA Change: R99W

DomainStartEndE-ValueType
SH3 2 57 2.69e-22 SMART
SH3 101 156 5.69e-21 SMART
low complexity region 221 239 N/A INTRINSIC
SH3 314 371 1.26e-22 SMART
low complexity region 381 387 N/A INTRINSIC
low complexity region 421 431 N/A INTRINSIC
low complexity region 436 451 N/A INTRINSIC
low complexity region 535 556 N/A INTRINSIC
low complexity region 600 623 N/A INTRINSIC
coiled coil region 647 704 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000080394
AA Change: R62W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079257
Gene: ENSMUSG00000040990
AA Change: R62W

DomainStartEndE-ValueType
SH3 64 119 5.69e-21 SMART
low complexity region 140 158 N/A INTRINSIC
SH3 233 290 1.26e-22 SMART
low complexity region 300 306 N/A INTRINSIC
low complexity region 340 350 N/A INTRINSIC
low complexity region 355 370 N/A INTRINSIC
low complexity region 454 475 N/A INTRINSIC
low complexity region 519 542 N/A INTRINSIC
coiled coil region 566 623 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112456
AA Change: R99W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108075
Gene: ENSMUSG00000040990
AA Change: R99W

DomainStartEndE-ValueType
SH3 2 57 2.69e-22 SMART
SH3 101 156 5.69e-21 SMART
low complexity region 177 195 N/A INTRINSIC
SH3 270 327 1.26e-22 SMART
low complexity region 337 343 N/A INTRINSIC
low complexity region 377 387 N/A INTRINSIC
low complexity region 392 407 N/A INTRINSIC
low complexity region 491 512 N/A INTRINSIC
low complexity region 556 579 N/A INTRINSIC
coiled coil region 603 660 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123433
AA Change: R40W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114799
Gene: ENSMUSG00000040990
AA Change: R40W

DomainStartEndE-ValueType
SH3 42 97 5.69e-21 SMART
low complexity region 118 136 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000141354
SMART Domains Protein: ENSMUSP00000114262
Gene: ENSMUSG00000040990

DomainStartEndE-ValueType
SH3 64 119 5.69e-21 SMART
low complexity region 140 158 N/A INTRINSIC
SH3 233 290 1.26e-22 SMART
low complexity region 300 306 N/A INTRINSIC
low complexity region 340 350 N/A INTRINSIC
low complexity region 355 370 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150433
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adapter protein that contains three N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele have an increased lean body mass, increased dopamine in the striatum and behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 91,056,197 T17K probably benign Het
Agbl1 T C 7: 76,766,372 S714P probably damaging Het
Araf A G X: 20,853,596 probably benign Het
Armc3 G A 2: 19,286,137 probably null Het
Armc8 A T 9: 99,483,174 D638E probably benign Het
Bpifb5 C T 2: 154,225,148 T107I possibly damaging Het
Ces1e A C 8: 93,212,349 probably null Het
Col4a3 C A 1: 82,669,771 probably benign Het
Col4a5 A G X: 141,599,673 probably benign Het
Crocc T C 4: 141,037,920 H477R probably benign Het
Dgkd C A 1: 87,915,141 N130K probably benign Het
Dock1 C T 7: 134,777,445 Q634* probably null Het
Dzip3 C T 16: 48,980,988 V58I probably benign Het
Fndc3a A G 14: 72,556,367 probably benign Het
Glp2r C T 11: 67,721,991 R379H probably damaging Het
Kctd12b T A X: 153,689,334 M120L probably benign Het
Krt33b A G 11: 100,025,363 V258A probably benign Het
Lpin1 T A 12: 16,541,769 N819I probably damaging Het
Lurap1l T C 4: 80,953,629 S120P probably damaging Het
Lysmd4 T C 7: 67,225,924 S112P probably damaging Het
Myo1e A G 9: 70,367,689 K708R probably benign Het
Nr3c1 T A 18: 39,421,557 probably benign Het
Nup62cl G T X: 140,022,031 N239K probably benign Het
Nwd1 A T 8: 72,707,582 E1269V probably damaging Het
Olfr676 C T 7: 105,035,945 T249M probably damaging Het
Pcdh9 A C 14: 93,326,768 L1084R probably damaging Het
Plxnd1 A G 6: 115,978,257 M543T probably benign Het
Prss53 T A 7: 127,888,792 T173S possibly damaging Het
Reep2 C A 18: 34,840,754 probably benign Het
Rp1 T C 1: 4,348,780 D703G probably benign Het
Sbf2 T G 7: 110,560,295 D36A probably damaging Het
Sis T A 3: 72,956,190 R238S probably benign Het
Slc35e2 T A 4: 155,618,562 V344D probably damaging Het
Specc1 G A 11: 62,128,368 V678I probably benign Het
Supt6 T C 11: 78,232,797 D49G possibly damaging Het
Tecpr1 G A 5: 144,210,003 A515V probably benign Het
Tlr4 G A 4: 66,834,061 probably null Het
Tmco5b A G 2: 113,288,274 E114G probably damaging Het
Tspear A T 10: 77,852,856 probably benign Het
Txlnb T A 10: 17,843,368 V649E probably benign Het
Utp20 A G 10: 88,815,956 probably benign Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Vmn2r70 T A 7: 85,565,003 T314S probably benign Het
Zfp938 G T 10: 82,226,072 T238K possibly damaging Het
Other mutations in Sh3kbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2145:Sh3kbp1 UTSW X 159824496 missense probably benign 0.09
R6726:Sh3kbp1 UTSW X 159841180 missense probably benign 0.01
R6728:Sh3kbp1 UTSW X 159841180 missense probably benign 0.01
Posted On2015-04-16