Incidental Mutation 'IGL02385:Sh3bp1'
ID 291532
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02385
Quality Score
Status
Chromosome 15
Chromosomal Location 78783994-78796247 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 78790088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001226] [ENSMUST00000061239] [ENSMUST00000109698] [ENSMUST00000132047] [ENSMUST00000134703] [ENSMUST00000148893] [ENSMUST00000151146]
AlphaFold P55194
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: 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: ENSMUST00000148893
SMART Domains Protein: ENSMUSP00000117839
Gene: ENSMUSG00000022436

DomainStartEndE-ValueType
Blast:BAR 2 55 1e-5 BLAST
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: ENSMUST00000231057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229803
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,201,630 (GRCm39) D351E probably damaging Het
Adad2 A G 8: 120,341,773 (GRCm39) probably benign Het
Adamts8 A G 9: 30,873,026 (GRCm39) N744D probably benign Het
Atad5 C T 11: 79,985,453 (GRCm39) T180I probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bcl9 A T 3: 97,116,594 (GRCm39) I700K probably benign Het
Bcr T C 10: 74,981,235 (GRCm39) S685P probably damaging Het
Cd36 A G 5: 18,019,717 (GRCm39) V128A probably benign Het
Cfap20dc A G 14: 8,510,920 (GRCm38) V498A possibly damaging Het
Chd2 T C 7: 73,085,570 (GRCm39) Y1688C probably damaging Het
Csmd1 A G 8: 15,953,275 (GRCm39) V3402A probably benign Het
Dsg3 T C 18: 20,660,771 (GRCm39) V370A probably damaging Het
Dus4l A G 12: 31,690,674 (GRCm39) probably benign Het
Fcrlb A G 1: 170,735,168 (GRCm39) S320P probably damaging Het
Fer1l4 T C 2: 155,887,348 (GRCm39) D616G probably benign Het
Fxr2 C T 11: 69,543,095 (GRCm39) R631C possibly damaging Het
Gltpd2 T A 11: 70,410,822 (GRCm39) F152I probably damaging Het
Gpt2 T A 8: 86,242,782 (GRCm39) probably null Het
Hsd3b6 A T 3: 98,713,888 (GRCm39) I137K possibly damaging Het
Kcna6 A G 6: 126,715,917 (GRCm39) V324A probably benign Het
Kcnu1 C T 8: 26,422,298 (GRCm39) L188F probably damaging Het
Kdm1b A G 13: 47,221,982 (GRCm39) I474V possibly damaging Het
Kifap3 C T 1: 163,693,013 (GRCm39) Q602* probably null Het
Lrp4 T A 2: 91,305,065 (GRCm39) C231S possibly damaging Het
Lrrc63 T C 14: 75,323,640 (GRCm39) D528G probably benign Het
Nosip C A 7: 44,726,156 (GRCm39) R240S possibly damaging Het
Or11g26 T C 14: 50,752,900 (GRCm39) S80P probably damaging Het
Or4f57 G A 2: 111,790,603 (GRCm39) P272S probably benign Het
Or4k41 A G 2: 111,279,695 (GRCm39) D70G probably damaging Het
Orc5 A T 5: 22,731,438 (GRCm39) D231E probably damaging Het
Poli A T 18: 70,659,645 (GRCm39) M62K possibly damaging Het
Ppp1r13b A C 12: 111,801,477 (GRCm39) S402R probably damaging Het
Prl3b1 T C 13: 27,433,366 (GRCm39) S174P possibly damaging Het
Ptpra T C 2: 130,382,393 (GRCm39) probably benign Het
Sfpq T A 4: 126,919,929 (GRCm39) probably null Het
Slc7a2 T G 8: 41,352,048 (GRCm39) V37G probably damaging Het
Smc1a A T X: 150,820,655 (GRCm39) E794D possibly damaging Het
Sox6 T C 7: 115,149,274 (GRCm39) R366G possibly damaging Het
Spaca7 A G 8: 12,636,498 (GRCm39) N108S possibly damaging Het
Spon1 T G 7: 113,365,567 (GRCm39) M1R probably null Het
Sult6b2 T C 6: 142,747,498 (GRCm39) R84G probably benign Het
Syt2 A G 1: 134,673,553 (GRCm39) N299S probably benign Het
Syvn1 T C 19: 6,098,570 (GRCm39) V104A probably damaging Het
Tbpl1 A G 10: 22,583,568 (GRCm39) L134P probably damaging Het
Tex11 A T X: 99,920,135 (GRCm39) probably benign Het
Tnfrsf21 A G 17: 43,350,942 (GRCm39) S369G probably damaging Het
Tram1l1 T C 3: 124,115,707 (GRCm39) V289A probably benign Het
Ttyh3 A T 5: 140,619,060 (GRCm39) F277L probably benign Het
Vmn2r17 T G 5: 109,582,247 (GRCm39) N545K probably damaging Het
Wdr20 A T 12: 110,759,657 (GRCm39) H181L probably benign Het
Zscan20 A G 4: 128,498,392 (GRCm39) M2T possibly damaging 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
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
PIT1430001:Sh3bp1 UTSW 15 78,798,224 (GRCm39) missense probably benign
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
Posted On 2015-04-16