Incidental Mutation 'R2145:Sh3kbp1'
ID233790
Institutional Source Beutler Lab
Gene Symbol Sh3kbp1
Ensembl Gene ENSMUSG00000040990
Gene NameSH3-domain kinase binding protein 1
SynonymsIN85, 5830464D22Rik, 1700125L08Rik, Seta, Ruk, 1200007H22Rik
MMRRC Submission 040148-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.376) question?
Stock #R2145 (G1)
Quality Score222
Status Validated
ChromosomeX
Chromosomal Location159627272-159978069 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 159824496 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 200 (T200K)
Ref Sequence ENSEMBL: ENSMUSP00000072840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073094] [ENSMUST00000080394] [ENSMUST00000112456] [ENSMUST00000123433] [ENSMUST00000141354]
Predicted Effect probably benign
Transcript: ENSMUST00000073094
AA Change: T200K

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000072840
Gene: ENSMUSG00000040990
AA Change: T200K

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 benign
Transcript: ENSMUST00000080394
SMART Domains Protein: ENSMUSP00000079257
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
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 benign
Transcript: ENSMUST00000112456
SMART Domains Protein: ENSMUSP00000108075
Gene: ENSMUSG00000040990

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 benign
Transcript: ENSMUST00000123433
SMART Domains Protein: ENSMUSP00000114799
Gene: ENSMUSG00000040990

DomainStartEndE-ValueType
SH3 42 97 5.69e-21 SMART
low complexity region 118 136 N/A INTRINSIC
Predicted Effect probably benign
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
Meta Mutation Damage Score 0.0855 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (101/104)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032A03Rik T C 9: 50,764,874 Y32C probably damaging Het
Abca15 A G 7: 120,354,478 N535S probably benign Het
Abcc6 A T 7: 45,998,741 L717Q probably benign Het
Abraxas2 C A 7: 132,883,061 Q278K probably benign Het
Acap2 A T 16: 31,105,524 D637E probably benign Het
AI661453 A G 17: 47,466,098 probably benign Het
Aoah A T 13: 20,840,096 E74V probably damaging Het
Appl1 A G 14: 26,949,619 L292S possibly damaging Het
Astl T A 2: 127,347,189 V166E probably damaging Het
Atp5s A G 12: 69,741,054 Q88R probably damaging Het
Bbs1 T G 19: 4,903,707 K143Q possibly damaging Het
Bbx T C 16: 50,274,544 probably benign Het
Birc6 A T 17: 74,660,413 Q4103L possibly damaging Het
C1qtnf2 T G 11: 43,490,984 F178V probably damaging Het
Camta2 A G 11: 70,671,575 F999L probably benign Het
Clcn7 A G 17: 25,144,451 I34V probably benign Het
Cntn5 G T 9: 9,748,415 P487Q probably damaging Het
Ctu2 T A 8: 122,479,152 I213K probably benign Het
Des C A 1: 75,363,464 probably benign Het
Dgcr8 A T 16: 18,280,230 D432E probably benign Het
Dlgap5 G A 14: 47,395,923 R549* probably null Het
Dmxl2 T C 9: 54,415,910 T1397A probably damaging Het
Dnmt1 T A 9: 20,937,155 probably benign Het
Doxl2 A T 6: 48,976,695 D518V probably damaging Het
Dstyk T A 1: 132,463,375 M838K probably damaging Het
Dtwd1 C A 2: 126,159,984 T208N probably damaging Het
Dvl1 G A 4: 155,847,816 V28I possibly damaging Het
Dync1i2 T A 2: 71,214,563 probably benign Het
Fer1l6 T A 15: 58,627,534 M1251K probably benign Het
Fmod T C 1: 134,040,518 Y99H probably benign Het
Fn1 A T 1: 71,606,004 V1552D probably damaging Het
Fnip2 A T 3: 79,500,432 S281T probably damaging Het
Glb1 A G 9: 114,464,165 H536R probably benign Het
Glis2 T A 16: 4,613,642 S344R possibly damaging Het
Gm1966 T A 7: 106,603,008 H343L possibly damaging Het
Gm4847 A T 1: 166,634,903 S339R probably benign Het
Gpr155 A G 2: 73,356,658 S44P probably benign Het
Gprin1 G A 13: 54,738,632 P610S probably damaging Het
H2-Ob A T 17: 34,242,580 M98L probably benign Het
Hist1h3e T C 13: 23,562,356 T4A probably benign Het
Hmcn2 T C 2: 31,333,931 probably benign Het
Ikbke C A 1: 131,273,474 V176L probably damaging Het
Il13 T C 11: 53,632,524 T85A possibly damaging Het
Inpp5k A T 11: 75,647,191 probably null Het
Irgm2 T C 11: 58,220,529 S361P possibly damaging Het
Itga11 C T 9: 62,732,204 probably benign Het
Kalrn G T 16: 34,009,262 probably benign Het
Kcng1 C A 2: 168,269,032 G71C probably damaging Het
Kcnq5 T A 1: 21,505,349 D291V probably damaging Het
Klhl7 A T 5: 24,100,863 M37L probably benign Het
Letm1 A AG 5: 33,769,515 probably null Het
Lhx6 C T 2: 36,087,466 V325I probably benign Het
Lipc A G 9: 70,934,535 I9T possibly damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,185,261 probably null Het
Mast1 C A 8: 84,921,478 G458V probably damaging Het
Mga T C 2: 119,964,157 V2565A possibly damaging Het
Mkl2 T C 16: 13,412,586 I1045T probably damaging Het
Mpzl2 C G 9: 45,044,173 D127E probably benign Het
Myh3 T A 11: 67,091,056 C793S probably benign Het
Nomo1 T C 7: 46,066,504 L765P probably damaging Het
Nup210 A G 6: 91,028,876 I1335T possibly damaging Het
Olfr549 T C 7: 102,555,060 probably null Het
Oxr1 T A 15: 41,819,944 S254R probably damaging Het
Pan3 A G 5: 147,530,098 I592V possibly damaging Het
Pask C T 1: 93,321,297 A794T probably benign Het
Pex2 T C 3: 5,561,590 E53G probably damaging Het
Pfkfb2 T C 1: 130,698,723 T438A probably benign Het
Phactr4 T C 4: 132,370,784 E391G probably damaging Het
Pira2 A T 7: 3,844,345 L115Q probably damaging Het
Pkhd1l1 A T 15: 44,512,877 probably null Het
Pnlip A G 19: 58,676,444 S235G probably benign Het
Prkd1 A G 12: 50,489,911 V130A possibly damaging Het
Ptpn13 A G 5: 103,556,133 T1344A probably benign Het
Ptprc T C 1: 138,073,681 Y780C probably damaging Het
Pxn T A 5: 115,552,756 probably benign Het
Rap1gap2 G A 11: 74,425,976 T245M probably damaging Het
Rc3h1 G T 1: 160,930,257 K48N probably damaging Het
Rfwd3 T C 8: 111,282,613 I444V probably benign Het
Rictor C T 15: 6,765,107 R293C probably damaging Het
Rif1 T A 2: 52,111,400 I1622N possibly damaging Het
Rnf213 T C 11: 119,415,193 V609A probably benign Het
Scgb1b2 G T 7: 31,291,763 probably benign Het
Serac1 A T 17: 6,050,785 I448N probably damaging Het
Sned1 T A 1: 93,271,684 F495L probably damaging Het
Socs7 T C 11: 97,373,124 F281L probably benign Het
Spta1 C T 1: 174,212,614 L1214F probably benign Het
Ssu72 A G 4: 155,705,443 E21G probably damaging Het
Syngr4 A G 7: 45,887,040 V186A probably benign Het
Tarsl2 G A 7: 65,655,791 M254I possibly damaging Het
Tmem130 C A 5: 144,743,785 V270L probably benign Het
Trim66 A T 7: 109,475,113 I647N probably damaging Het
Tspyl2 A T X: 152,338,894 D572E probably benign Het
Unc45b G A 11: 82,917,754 R222H probably benign Het
Uxs1 T C 1: 43,827,623 Y29C probably damaging Het
Virma T A 4: 11,548,726 probably benign Het
Vmn1r202 C T 13: 22,501,783 G155S possibly damaging Het
Vmn2r24 T A 6: 123,779,013 F15I probably benign Het
Wdr64 A G 1: 175,767,095 T471A probably benign Het
Zfa-ps T A 10: 52,543,277 noncoding transcript Het
Zfp260 A G 7: 30,105,340 K222E probably damaging Het
Zfp300 A G X: 21,081,951 S525P possibly damaging Het
Zfp821 A G 8: 109,724,347 D324G probably damaging Het
Zfp934 T C 13: 62,517,834 D331G probably damaging Het
Zscan29 T C 2: 121,170,106 R7G probably damaging Het
Other mutations in Sh3kbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02244:Sh3kbp1 APN X 159803728 missense probably damaging 1.00
R6726:Sh3kbp1 UTSW X 159841180 missense probably benign 0.01
R6728:Sh3kbp1 UTSW X 159841180 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTCTTGCCATTGTGGTGACC -3'
(R):5'- CACACAGAGACTTGGCATAAGC -3'

Sequencing Primer
(F):5'- GACTTTGGGCTCATTCTGTAATATTC -3'
(R):5'- GACTTGGCATAAGCTCAAGC -3'
Posted On2014-10-01