Incidental Mutation 'PIT1430001:Sh3bp1'
ID 529328
Institutional Source Beutler Lab
Gene Symbol Sh3bp1
Ensembl Gene ENSMUSG00000022436
Gene Name SH3-domain binding protein 1
Synonyms 3BP-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # PIT1430001 (G1)
Quality Score 100
Status Validated
Chromosome 15
Chromosomal Location 78783994-78796247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78798224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 19 (A19T)
Ref Sequence ENSEMBL: ENSMUSP00000086796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001226] [ENSMUST00000061239] [ENSMUST00000089378] [ENSMUST00000109698] [ENSMUST00000132047] [ENSMUST00000134703] [ENSMUST00000151146]
AlphaFold P55194
PDB Structure Crystal structure of the murine AUM (phosphoglycolate phosphatase) capping domain as a fusion protein with the catalytic core domain of murine chronophin (pyridoxal phosphate phosphatase) [X-RAY DIFFRACTION]
Crystal Structure of a Monomeric Variant of murine Chronophin (Pyridoxal Phosphate phosphatase) [X-RAY DIFFRACTION]
Crystal Structure of murine Chronophin (Pyridoxal Phosphate Phosphatase) in complex with Beryllium trifluoride [X-RAY DIFFRACTION]
Crystal Structure of murine Chronophin (Pyridoxal Phosphate Phosphatase) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000001226
SMART Domains Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436

DomainStartEndE-ValueType
Pfam:BAR 2 254 7e-37 PFAM
RhoGAP 287 466 2.04e-63 SMART
low complexity region 500 518 N/A INTRINSIC
low complexity region 558 593 N/A INTRINSIC
low complexity region 604 633 N/A INTRINSIC
low complexity region 661 672 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061239
SMART Domains Protein: ENSMUSP00000052181
Gene: ENSMUSG00000022436

DomainStartEndE-ValueType
Pfam:BAR 2 254 2.2e-36 PFAM
RhoGAP 287 466 2.04e-63 SMART
low complexity region 500 518 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089378
AA Change: A19T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086796
Gene: ENSMUSG00000116165
AA Change: A19T

DomainStartEndE-ValueType
Pfam:Hydrolase 19 247 3.6e-13 PFAM
Pfam:Hydrolase_6 22 128 3.2e-29 PFAM
Pfam:Hydrolase_like 206 286 2.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109698
SMART Domains Protein: ENSMUSP00000105320
Gene: ENSMUSG00000022436

DomainStartEndE-ValueType
Pfam:BAR 2 254 2.2e-36 PFAM
RhoGAP 287 466 2.04e-63 SMART
low complexity region 500 518 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132047
SMART Domains Protein: ENSMUSP00000138598
Gene: ENSMUSG00000022436

DomainStartEndE-ValueType
Pfam:BAR 2 254 5.4e-36 PFAM
RhoGAP 287 466 2.04e-63 SMART
low complexity region 500 518 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134703
Predicted Effect probably benign
Transcript: ENSMUST00000151146
SMART Domains Protein: ENSMUSP00000138780
Gene: ENSMUSG00000022436

DomainStartEndE-ValueType
Pfam:BAR 2 143 9e-22 PFAM
low complexity region 160 177 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150472
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (136/137)
Allele List at MGI
Other mutations in this stock
Total: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,207,160 (GRCm39) I524F possibly damaging Het
4930511M06Rik T C 18: 57,517,241 (GRCm39) probably benign Het
9330159F19Rik T A 10: 29,100,711 (GRCm39) N361K probably damaging Het
Adgra2 A G 8: 27,604,216 (GRCm39) M469V possibly damaging Het
Akap9 A G 5: 4,079,849 (GRCm39) D1867G probably damaging Het
Ankrd17 T C 5: 90,400,832 (GRCm39) T1687A possibly damaging Het
Ap1m2 G A 9: 21,209,548 (GRCm39) P376L probably damaging Het
Bicc1 A G 10: 70,793,511 (GRCm39) S196P possibly damaging Het
Cacnb2 C T 2: 14,976,412 (GRCm39) R228* probably null Het
Ccdc43 A G 11: 102,582,976 (GRCm39) S83P probably damaging Het
Cdc42bpg T A 19: 6,372,582 (GRCm39) probably null Het
Cdh16 C A 8: 105,344,271 (GRCm39) M89I probably benign Het
Cecr2 A C 6: 120,735,440 (GRCm39) H892P probably benign Het
Chd5 T A 4: 152,455,094 (GRCm39) S859T probably damaging Het
Chrd G A 16: 20,557,748 (GRCm39) probably null Het
Chrna2 T A 14: 66,387,186 (GRCm39) L444Q probably benign Het
Ckap4 A G 10: 84,363,630 (GRCm39) S478P probably damaging Het
Cldn4 A T 5: 134,975,514 (GRCm39) M29K possibly damaging Het
Clpb T C 7: 101,435,926 (GRCm39) V615A possibly damaging Het
Cyb5r4 G A 9: 86,920,791 (GRCm39) G142E probably benign Het
Cyp1a1 A G 9: 57,608,194 (GRCm39) Y274C probably benign Het
D2hgdh T C 1: 93,754,001 (GRCm39) probably benign Het
Dgkh T A 14: 78,818,953 (GRCm39) E919V probably damaging Het
Dnah1 A G 14: 30,984,537 (GRCm39) Y3916H probably damaging Het
Dpp10 A G 1: 123,268,911 (GRCm39) probably benign Het
Dync2i2 T C 2: 29,922,147 (GRCm39) Y438C probably damaging Het
Egfr A G 11: 16,860,214 (GRCm39) T1043A probably benign Het
Elp5 T G 11: 69,857,935 (GRCm39) probably null Het
Emilin3 A T 2: 160,750,402 (GRCm39) M449K possibly damaging Het
Epb41l4a T G 18: 33,930,400 (GRCm39) T686P probably damaging Het
Eppk1 A G 15: 76,105,236 (GRCm38) C2482R probably benign Het
Eps8l3 T C 3: 107,792,183 (GRCm39) L370P probably damaging Het
Erbin A T 13: 103,996,017 (GRCm39) S228R probably damaging Het
Fam149a C T 8: 45,804,743 (GRCm39) E280K probably benign Het
Fam78b T C 1: 166,829,313 (GRCm39) I60T probably benign Het
Fank1 A T 7: 133,478,529 (GRCm39) R197* probably null Het
Fbxo21 C T 5: 118,115,931 (GRCm39) S83F possibly damaging Het
Fbxo4 G C 15: 4,008,782 (GRCm39) T42R probably benign Het
Fhad1 C G 4: 141,637,060 (GRCm39) E1135D probably damaging Het
Fmo1 T A 1: 162,657,622 (GRCm39) E506D probably benign Het
Glipr1l2 A T 10: 111,942,745 (GRCm39) T231S probably benign Het
Gm11651 C G 11: 105,863,917 (GRCm39) probably benign Het
Gm16043 A G 6: 8,426,969 (GRCm39) probably null Het
Gm572 T G 4: 148,755,850 (GRCm39) W389G unknown Het
Gpc6 G A 14: 118,188,594 (GRCm39) W409* probably null Het
Gpr155 T C 2: 73,200,482 (GRCm39) T342A probably benign Het
Hcn4 A C 9: 58,766,833 (GRCm39) H798P unknown Het
Herc2 T C 7: 55,876,702 (GRCm39) S4513P probably damaging Het
Hmcn1 G A 1: 150,684,488 (GRCm39) R361C probably benign Het
Hoxa4 G T 6: 52,168,199 (GRCm39) P157Q possibly damaging Het
Ift122 A C 6: 115,902,705 (GRCm39) probably benign Het
Igfbpl1 G A 4: 45,826,756 (GRCm39) S13L unknown Het
Igsf10 T C 3: 59,235,579 (GRCm39) D1534G probably benign Het
Il1rap T G 16: 26,529,343 (GRCm39) L339V possibly damaging Het
Irf2bpl C T 12: 86,930,229 (GRCm39) R148H possibly damaging Het
Ivns1abp A T 1: 151,237,356 (GRCm39) R58W probably damaging Het
Kcnq5 C T 1: 21,605,405 (GRCm39) V167M probably damaging Het
Lrrcc1 G A 3: 14,610,656 (GRCm39) C337Y probably damaging Het
Lrriq3 A G 3: 154,804,507 (GRCm39) I56V probably benign Het
Masp1 C A 16: 23,332,694 (GRCm39) S47I probably damaging Het
Mcm7 A T 5: 138,165,708 (GRCm39) probably benign Het
Mdm2 G T 10: 117,530,840 (GRCm39) S210R probably damaging Het
Mical1 A G 10: 41,359,492 (GRCm39) R500G possibly damaging Het
Mtarc1 T G 1: 184,539,246 (GRCm39) T37P probably benign Het
Myc A C 15: 61,859,542 (GRCm39) T73P probably damaging Het
Myh15 G A 16: 49,017,254 (GRCm39) probably null Het
Myh4 A G 11: 67,149,658 (GRCm39) M1768V probably benign Het
Nap1l1 T C 10: 111,322,597 (GRCm39) Y66H probably damaging Het
Ncoa1 C T 12: 4,373,005 (GRCm39) R132K probably benign Het
Nfatc3 C T 8: 106,786,605 (GRCm39) S28F possibly damaging Het
Nhlrc3 T A 3: 53,361,050 (GRCm39) K235M probably damaging Het
Nrk G A X: 137,879,463 (GRCm39) E757K probably damaging Het
Obsl1 G A 1: 75,482,811 (GRCm39) P20S probably damaging Het
P2rx7 C T 5: 122,819,279 (GRCm39) A567V probably damaging Het
Pate9 A T 9: 36,446,295 (GRCm39) L39* probably null Het
Pcdhb15 G A 18: 37,608,724 (GRCm39) R652H probably benign Het
Pcdhga4 T C 18: 37,819,267 (GRCm39) V272A probably benign Het
Pcdhgb1 T G 18: 37,814,472 (GRCm39) V321G probably damaging Het
Pde2a C G 7: 101,100,684 (GRCm39) probably benign Het
Pdhb C T 14: 8,170,425 (GRCm38) E109K probably damaging Het
Pkd1 C A 17: 24,788,485 (GRCm39) L748M probably damaging Het
Pkd2 A T 5: 104,607,654 (GRCm39) E51V probably damaging Het
Pkdrej A G 15: 85,705,493 (GRCm39) Y148H probably damaging Het
Polr3gl C G 3: 96,488,228 (GRCm39) probably benign Het
Ppfia1 A T 7: 144,052,073 (GRCm39) L882Q probably damaging Het
Ppp4r3b G T 11: 29,159,434 (GRCm39) R596L probably benign Het
Ppp6r3 G A 19: 3,521,059 (GRCm39) Q85* probably null Het
Prss8 A G 7: 127,521,424 (GRCm39) probably benign Het
Qng1 T A 13: 58,532,827 (GRCm39) K48* probably null Het
Rab22a A G 2: 173,536,963 (GRCm39) I87V probably benign Het
Rev1 A C 1: 38,095,337 (GRCm39) probably benign Het
Rnase13 A G 14: 52,159,987 (GRCm39) Y51H probably damaging Het
Rnf26 T C 9: 44,023,942 (GRCm39) H102R probably damaging Het
Rnf5 T C 17: 34,822,341 (GRCm39) E36G probably damaging Het
Rplp1 T G 9: 61,821,658 (GRCm39) D18A probably benign Het
Rrs1 C A 1: 9,616,150 (GRCm39) D134E probably damaging Het
Sec14l1 A G 11: 117,034,629 (GRCm39) Y166C probably damaging Het
Sec14l2 A T 11: 4,059,209 (GRCm39) Y153* probably null Het
Senp1 A G 15: 97,982,870 (GRCm39) L39P probably damaging Het
Senp2 T A 16: 21,832,864 (GRCm39) probably benign Het
Sis G A 3: 72,830,162 (GRCm39) P1130S probably damaging Het
Slc16a12 C T 19: 34,654,759 (GRCm39) A95T possibly damaging Het
Slc22a4 A G 11: 53,918,783 (GRCm39) V7A probably benign Het
Slc35c2 C T 2: 165,119,452 (GRCm39) S296N probably benign Het
Slf1 A G 13: 77,198,169 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,859 (GRCm39) V616E possibly damaging Het
Smarca2 T A 19: 26,626,493 (GRCm39) M439K probably benign Het
Snx29 G A 16: 11,221,488 (GRCm39) A305T probably benign Het
Socs5 C T 17: 87,441,044 (GRCm39) probably benign Het
Spata31d1a G T 13: 59,849,010 (GRCm39) H1039Q probably benign Het
Srgap1 G A 10: 121,732,658 (GRCm39) probably benign Het
Synj1 A T 16: 90,761,396 (GRCm39) I650N probably damaging Het
Tac4 A C 11: 95,158,190 (GRCm39) probably benign Het
Tbck A C 3: 132,428,487 (GRCm39) T281P probably benign Het
Tbx22 T C X: 106,720,611 (GRCm39) L62P probably damaging Het
Terf2 G C 8: 107,822,934 (GRCm39) R70G probably damaging Het
Tfdp1 C T 8: 13,422,526 (GRCm39) P138S probably benign Het
Tigd2 T C 6: 59,188,233 (GRCm39) Y367H probably damaging Het
Tmprss15 A T 16: 78,821,640 (GRCm39) probably null Het
Tmprss6 C T 15: 78,324,827 (GRCm39) G741D probably damaging Het
Tnrc6b A C 15: 80,813,387 (GRCm39) T1715P probably damaging Het
Tpcn1 T C 5: 120,686,388 (GRCm39) probably benign Het
Trappc2l T C 8: 123,339,874 (GRCm39) S35P probably damaging Het
Trim63 T C 4: 134,048,484 (GRCm39) probably benign Het
Trim66 G T 7: 109,074,454 (GRCm39) D602E probably damaging Het
Trp53bp1 G A 2: 121,101,756 (GRCm39) P2S probably damaging Het
Tspan14 A G 14: 40,637,488 (GRCm39) L100P probably damaging Het
Tspan15 C T 10: 62,023,899 (GRCm39) E260K probably damaging Het
Ubxn10 T C 4: 138,448,199 (GRCm39) D159G probably benign Het
Unc5a T G 13: 55,151,709 (GRCm39) V713G probably damaging Het
Usp16 C T 16: 87,270,020 (GRCm39) A324V probably damaging Het
Uvssa G A 5: 33,559,914 (GRCm39) R422Q possibly damaging Het
Wipf1 A C 2: 73,267,946 (GRCm39) F151V probably damaging Het
Xpo1 A T 11: 23,226,437 (GRCm39) K104N possibly damaging Het
Ybx3 T C 6: 131,356,422 (GRCm39) T150A probably damaging Het
Yju2 C T 17: 56,271,479 (GRCm39) probably benign Het
Zap70 T A 1: 36,818,250 (GRCm39) S312R possibly damaging Het
Zfp534 T G 4: 147,759,880 (GRCm39) K263T probably benign Het
Zfp534 T G 4: 147,759,917 (GRCm39) N251H probably benign Het
Other mutations in Sh3bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Sh3bp1 APN 15 78,789,314 (GRCm39) missense possibly damaging 0.58
IGL01879:Sh3bp1 APN 15 78,792,192 (GRCm39) missense probably damaging 1.00
IGL02112:Sh3bp1 APN 15 78,790,084 (GRCm39) critical splice donor site probably null
IGL02216:Sh3bp1 APN 15 78,789,364 (GRCm39) missense probably benign 0.07
IGL02385:Sh3bp1 APN 15 78,790,088 (GRCm39) splice site probably benign
IGL02417:Sh3bp1 APN 15 78,785,699 (GRCm39) missense probably damaging 1.00
IGL02551:Sh3bp1 APN 15 78,788,538 (GRCm39) missense probably benign 0.01
PIT4585001:Sh3bp1 UTSW 15 78,794,276 (GRCm39) missense possibly damaging 0.49
R0255:Sh3bp1 UTSW 15 78,788,534 (GRCm39) nonsense probably null
R0318:Sh3bp1 UTSW 15 78,795,907 (GRCm39) missense probably damaging 0.97
R0544:Sh3bp1 UTSW 15 78,789,975 (GRCm39) missense probably damaging 1.00
R0554:Sh3bp1 UTSW 15 78,791,467 (GRCm39) missense probably damaging 1.00
R1424:Sh3bp1 UTSW 15 78,787,899 (GRCm39) critical splice donor site probably null
R1465:Sh3bp1 UTSW 15 78,791,545 (GRCm39) splice site probably benign
R1813:Sh3bp1 UTSW 15 78,787,880 (GRCm39) missense probably damaging 0.96
R1835:Sh3bp1 UTSW 15 78,789,350 (GRCm39) missense probably damaging 1.00
R2291:Sh3bp1 UTSW 15 78,802,519 (GRCm39) missense possibly damaging 0.93
R2415:Sh3bp1 UTSW 15 78,785,361 (GRCm39) start gained probably benign
R2509:Sh3bp1 UTSW 15 78,795,706 (GRCm39) missense probably damaging 1.00
R2511:Sh3bp1 UTSW 15 78,795,706 (GRCm39) missense probably damaging 1.00
R3054:Sh3bp1 UTSW 15 78,795,622 (GRCm39) missense probably benign 0.01
R3827:Sh3bp1 UTSW 15 78,788,697 (GRCm39) missense possibly damaging 0.67
R3855:Sh3bp1 UTSW 15 78,785,361 (GRCm39) start gained probably benign
R4767:Sh3bp1 UTSW 15 78,788,697 (GRCm39) missense possibly damaging 0.67
R4787:Sh3bp1 UTSW 15 78,792,195 (GRCm39) missense possibly damaging 0.80
R4852:Sh3bp1 UTSW 15 78,788,538 (GRCm39) missense probably benign 0.01
R4872:Sh3bp1 UTSW 15 78,792,237 (GRCm39) missense probably benign 0.31
R5194:Sh3bp1 UTSW 15 78,787,301 (GRCm39) missense probably damaging 1.00
R6320:Sh3bp1 UTSW 15 78,795,715 (GRCm39) missense probably damaging 1.00
R6322:Sh3bp1 UTSW 15 78,795,715 (GRCm39) missense probably damaging 1.00
R6569:Sh3bp1 UTSW 15 78,795,896 (GRCm39) missense probably damaging 1.00
R6678:Sh3bp1 UTSW 15 78,792,714 (GRCm39) critical splice donor site probably null
R6905:Sh3bp1 UTSW 15 78,789,230 (GRCm39) missense probably benign 0.00
R7564:Sh3bp1 UTSW 15 78,795,760 (GRCm39) missense probably damaging 1.00
R7744:Sh3bp1 UTSW 15 78,794,209 (GRCm39) missense possibly damaging 0.61
R7916:Sh3bp1 UTSW 15 78,791,421 (GRCm39) missense probably benign 0.01
R8048:Sh3bp1 UTSW 15 78,794,272 (GRCm39) missense probably benign 0.26
R8887:Sh3bp1 UTSW 15 78,788,540 (GRCm39) critical splice donor site probably null
R9043:Sh3bp1 UTSW 15 78,791,449 (GRCm39) missense possibly damaging 0.71
R9057:Sh3bp1 UTSW 15 78,794,209 (GRCm39) missense probably benign 0.00
R9548:Sh3bp1 UTSW 15 78,788,673 (GRCm39) missense possibly damaging 0.94
R9666:Sh3bp1 UTSW 15 78,792,622 (GRCm39) missense probably benign 0.10
Z1177:Sh3bp1 UTSW 15 78,786,772 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2018-07-31