Incidental Mutation 'IGL02112:Sh3bp1'
ID 280224
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 # IGL02112
Quality Score
Status
Chromosome 15
Chromosomal Location 78783994-78796247 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 78790084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001226] [ENSMUST00000001226] [ENSMUST00000001226] [ENSMUST00000061239] [ENSMUST00000061239] [ENSMUST00000061239] [ENSMUST00000109698] [ENSMUST00000109698] [ENSMUST00000109698] [ENSMUST00000132047] [ENSMUST00000134703] [ENSMUST00000148893] [ENSMUST00000151146]
AlphaFold P55194
Predicted Effect probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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: ENSMUST00000229803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229492
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,175 (GRCm39) Y490F possibly damaging Het
Appbp2 A T 11: 85,092,446 (GRCm39) H271Q probably benign Het
Arhgap17 A T 7: 122,917,640 (GRCm39) D181E possibly damaging Het
Arhgap25 T A 6: 87,444,919 (GRCm39) Y286F possibly damaging Het
Atf2 T C 2: 73,649,381 (GRCm39) K352R probably damaging Het
Bdp1 G A 13: 100,174,308 (GRCm39) T2076I probably benign Het
C1s2 A G 6: 124,602,267 (GRCm39) V642A probably benign Het
Cldn18 T A 9: 99,580,128 (GRCm39) T170S probably benign Het
Cntnap5c T A 17: 58,620,853 (GRCm39) H977Q probably benign Het
Col15a1 T A 4: 47,253,985 (GRCm39) probably benign Het
Csmd1 A T 8: 16,131,719 (GRCm39) Y1669N probably benign Het
Csmd3 A C 15: 48,177,265 (GRCm39) S424R possibly damaging Het
Cyp4a31 A G 4: 115,428,180 (GRCm39) D306G probably damaging Het
E2f2 A G 4: 135,920,145 (GRCm39) T377A probably benign Het
Edil3 A G 13: 89,328,374 (GRCm39) D276G probably damaging Het
Ei24 A T 9: 36,693,638 (GRCm39) Y305N probably damaging Het
Erbin T C 13: 103,998,844 (GRCm39) N181D probably benign Het
Gli3 A G 13: 15,837,099 (GRCm39) Q494R probably damaging Het
Gm16519 T C 17: 71,236,291 (GRCm39) I80T probably damaging Het
Haus8 T A 8: 71,708,205 (GRCm39) E163V probably damaging Het
Hephl1 G T 9: 14,993,111 (GRCm39) probably benign Het
Hnrnph3 A G 10: 62,852,184 (GRCm39) probably null Het
Liat1 G T 11: 75,894,214 (GRCm39) C197F probably benign Het
Mast2 A T 4: 116,176,961 (GRCm39) C437S probably damaging Het
Mef2a A C 7: 66,914,620 (GRCm39) S91R probably damaging Het
Mfge8 A T 7: 78,793,088 (GRCm39) V126D probably benign Het
Nrdc A G 4: 108,884,629 (GRCm39) probably benign Het
Or7d10 T A 9: 19,831,821 (GRCm39) N105K possibly damaging Het
Panx2 A G 15: 88,953,772 (GRCm39) T576A probably benign Het
Per3 T C 4: 151,113,640 (GRCm39) Y306C probably benign Het
Ppm1h G A 10: 122,638,305 (GRCm39) G192R possibly damaging Het
Prss22 T C 17: 24,212,945 (GRCm39) E264G probably damaging Het
Rasa3 A G 8: 13,635,042 (GRCm39) probably benign Het
Rpl7a-ps8 C A 7: 19,687,985 (GRCm39) probably benign Het
Rundc1 A G 11: 101,324,425 (GRCm39) D377G probably benign Het
Sobp A G 10: 42,897,873 (GRCm39) S571P probably benign Het
Styxl2 C A 1: 165,927,240 (GRCm39) E791* probably null Het
Syce1 C A 7: 140,359,545 (GRCm39) M114I probably benign Het
Tdrd6 G A 17: 43,940,242 (GRCm39) R269W probably damaging Het
Tmprss13 T C 9: 45,250,702 (GRCm39) S408P probably damaging Het
Tonsl T C 15: 76,517,602 (GRCm39) T706A probably benign Het
Tpcn2 A G 7: 144,810,529 (GRCm39) S603P probably benign Het
Trmt12 A T 15: 58,744,665 (GRCm39) Q21L probably damaging Het
Vmn1r68 C T 7: 10,261,787 (GRCm39) G104S probably damaging Het
Vmn2r82 T C 10: 79,231,833 (GRCm39) W611R probably benign Het
Vmn2r90 C A 17: 17,932,465 (GRCm39) T124K probably damaging Het
Vmn2r99 A G 17: 19,600,494 (GRCm39) E506G probably null 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
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
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