Incidental Mutation 'R1424:Sh3bp1'
ID 247309
Institutional Source Beutler Lab
Gene Symbol Sh3bp1
Ensembl Gene ENSMUSG00000022436
Gene Name SH3-domain binding protein 1
Synonyms 3BP-1
MMRRC Submission 039480-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R1424 (G1)
Quality Score 49
Status Validated
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 78787899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001226] [ENSMUST00000001226] [ENSMUST00000001226] [ENSMUST00000001226] [ENSMUST00000001226] [ENSMUST00000001226] [ENSMUST00000061239] [ENSMUST00000061239] [ENSMUST00000061239] [ENSMUST00000109698] [ENSMUST00000109698] [ENSMUST00000109698] [ENSMUST00000132047] [ENSMUST00000132047] [ENSMUST00000132047] [ENSMUST00000134703] [ENSMUST00000134703] [ENSMUST00000134703] [ENSMUST00000148893] [ENSMUST00000151146] [ENSMUST00000151146] [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: 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 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: 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 null
Transcript: ENSMUST00000134703
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 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 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: ENSMUST00000229803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229492
Meta Mutation Damage Score 0.9494 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.6%
Validation Efficiency 97% (57/59)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik C A 12: 72,939,669 (GRCm39) E415* probably null Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Acad12 C T 5: 121,742,385 (GRCm39) A408T probably benign Het
Acox2 T A 14: 8,230,247 (GRCm38) H632L probably benign Het
Anxa5 A T 3: 36,506,441 (GRCm39) probably null Het
Ap1m2 A T 9: 21,209,500 (GRCm39) I392N possibly damaging Het
Casp2 T C 6: 42,253,725 (GRCm39) probably benign Het
Cel C T 2: 28,449,636 (GRCm39) A243T probably damaging Het
Depp1 A G 6: 116,628,966 (GRCm39) N103S possibly damaging Het
Dgka A T 10: 128,569,202 (GRCm39) S177T possibly damaging Het
Dnajc6 A G 4: 101,496,544 (GRCm39) T836A possibly damaging Het
Dock3 T C 9: 106,790,392 (GRCm39) S1444G probably damaging Het
Dtl T C 1: 191,293,649 (GRCm39) D176G probably benign Het
Eif4g1 T C 16: 20,497,692 (GRCm39) I230T probably benign Het
Fam227a T A 15: 79,518,309 (GRCm39) I328F probably benign Het
Fam98a A G 17: 75,847,173 (GRCm39) L179S probably damaging Het
Fgb A T 3: 82,954,070 (GRCm39) I56N probably damaging Het
Fmo1 C T 1: 162,657,635 (GRCm39) R502Q probably damaging Het
Fndc3a C T 14: 72,811,811 (GRCm39) A340T probably damaging Het
Gli3 C A 13: 15,900,899 (GRCm39) Q1429K probably benign Het
Gm3443 A T 19: 21,534,959 (GRCm39) I75F possibly damaging Het
Gtpbp6 C T 5: 110,252,155 (GRCm39) probably null Het
Gtsf1 A T 15: 103,318,070 (GRCm39) Y156* probably null Het
Hmcn1 T C 1: 150,522,545 (GRCm39) T3452A probably benign Het
Kcnj10 T A 1: 172,196,822 (GRCm39) V112E probably damaging Het
Lama3 C A 18: 12,653,048 (GRCm39) T256K probably benign Het
Lrrc8d G A 5: 105,974,782 (GRCm39) V63M unknown Het
Matn3 G T 12: 9,011,132 (GRCm39) A348S possibly damaging Het
Mmp16 A G 4: 18,112,121 (GRCm39) probably null Het
Nsd3 A G 8: 26,190,594 (GRCm39) N175S probably damaging Het
Or11h4 A T 14: 50,974,521 (GRCm39) F33I probably benign Het
Or1d2 C A 11: 74,255,780 (GRCm39) P95Q probably benign Het
Or4c35 C T 2: 89,808,415 (GRCm39) Q98* probably null Het
Or4k5 C A 14: 50,385,922 (GRCm39) M136I possibly damaging Het
Pcdhb12 T A 18: 37,571,132 (GRCm39) N759K probably benign Het
Pcsk2 T C 2: 143,415,348 (GRCm39) probably benign Het
Polq G A 16: 36,906,890 (GRCm39) D2284N probably damaging Het
Prdm12 C T 2: 31,533,823 (GRCm39) R147C probably damaging Het
Ptprz1 A G 6: 23,000,382 (GRCm39) D824G probably benign Het
Rere C T 4: 150,701,495 (GRCm39) R1292C probably damaging Het
Rptor T A 11: 119,671,419 (GRCm39) L294* probably null Het
Sbf2 A T 7: 109,914,233 (GRCm39) C1650S probably damaging Het
Sdk1 C T 5: 142,147,621 (GRCm39) T1751I probably damaging Het
Shank2 T A 7: 143,606,109 (GRCm39) D97E probably damaging Het
Tab2 A C 10: 7,795,812 (GRCm39) S149R possibly damaging Het
Taok1 G T 11: 77,440,190 (GRCm39) R606S probably benign Het
Tas2r121 A G 6: 132,677,645 (GRCm39) L109P probably damaging Het
Tmem117 A G 15: 94,829,689 (GRCm39) M175V probably benign Het
Tmprss11b T C 5: 86,812,832 (GRCm39) K155E probably benign Het
Tmtc2 G T 10: 105,249,229 (GRCm39) T168N probably benign Het
Top2b G A 14: 16,383,177 (GRCm38) R55H probably damaging Het
Tsga10ip C T 19: 5,440,942 (GRCm39) probably null Het
Tuba8 A G 6: 121,197,470 (GRCm39) N44S probably benign Het
Ube2o A G 11: 116,434,558 (GRCm39) V590A probably benign Het
Ush2a T G 1: 188,275,075 (GRCm39) probably null Het
Vmn2r23 T A 6: 123,690,229 (GRCm39) Y368* 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
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
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
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 PCR Primer
(F):5'- GGCCATGTTGGTCCTTGAGAACAC -3'
(R):5'- GCACATAAGTACAGCAGAGGTCCTG -3'

Sequencing Primer
(F):5'- GTAGTCTCCAAGATCCCTAGATGG -3'
(R):5'- AGAGGTCCTGGGCGGTG -3'
Posted On 2014-11-07