Incidental Mutation 'R6320:Sh3bp1'
ID 510121
Institutional Source Beutler Lab
Gene Symbol Sh3bp1
Ensembl Gene ENSMUSG00000022436
Gene Name SH3-domain binding protein 1
Synonyms 3BP-1
MMRRC Submission 044475-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R6320 (G1)
Quality Score 163.009
Status Validated
Chromosome 15
Chromosomal Location 78783994-78796247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78795715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 615 (P615S)
Ref Sequence ENSEMBL: ENSMUSP00000001226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001226] [ENSMUST00000061239] [ENSMUST00000089378] [ENSMUST00000109698] [ENSMUST00000132047] [ENSMUST00000134703] [ENSMUST00000151146]
AlphaFold P55194
Predicted Effect probably damaging
Transcript: ENSMUST00000001226
AA Change: P615S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436
AA Change: P615S

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
SMART Domains Protein: ENSMUSP00000086796
Gene: ENSMUSG00000116165

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: ENSMUST00000231057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229803
Meta Mutation Damage Score 0.0710 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1b G T 3: 20,369,943 (GRCm39) A221D probably benign Het
Aldh18a1 A T 19: 40,559,005 (GRCm39) D280E probably benign Het
Apob G A 12: 8,039,194 (GRCm39) D475N probably benign Het
Bmi1 C T 2: 18,689,186 (GRCm39) T290I probably benign Het
Brd8 A T 18: 34,746,292 (GRCm39) D139E possibly damaging Het
Cacna1e C A 1: 154,317,270 (GRCm39) V1467F possibly damaging Het
Cdh15 A G 8: 123,591,086 (GRCm39) D445G probably benign Het
Ceacam5 T A 7: 17,481,123 (GRCm39) L290H probably damaging Het
Celsr1 G T 15: 85,785,160 (GRCm39) Q3025K probably benign Het
Chi3l1 T A 1: 134,109,996 (GRCm39) M1K probably null Het
Crybg2 T C 4: 133,808,737 (GRCm39) S1404P probably damaging Het
Cubn C A 2: 13,285,006 (GRCm39) C3470F probably damaging Het
Cyp20a1 T C 1: 60,391,331 (GRCm39) probably null Het
Cyp24a1 G T 2: 170,328,704 (GRCm39) T408K probably benign Het
Cyp2a12 A T 7: 26,730,577 (GRCm39) I181F possibly damaging Het
Dnm1l A T 16: 16,149,952 (GRCm39) I268N probably damaging Het
Eif2a A G 3: 58,464,517 (GRCm39) probably null Het
Epg5 T C 18: 78,005,613 (GRCm39) F701S probably damaging Het
Fbxo46 T C 7: 18,870,466 (GRCm39) S362P possibly damaging Het
Fgf22 A G 10: 79,592,830 (GRCm39) probably benign Het
Fhod1 A C 8: 106,063,982 (GRCm39) probably benign Het
Flnc T A 6: 29,459,062 (GRCm39) V2448D probably damaging Het
Gm2696 G T 10: 77,671,972 (GRCm39) probably benign Het
Gmpr T C 13: 45,685,874 (GRCm39) S214P possibly damaging Het
Krt6a A G 15: 101,600,744 (GRCm39) V308A probably damaging Het
Lig3 T A 11: 82,684,833 (GRCm39) probably null Het
Lrrc37a T A 11: 103,394,877 (GRCm39) N183Y probably benign Het
Mapk8ip3 C A 17: 25,125,879 (GRCm39) G422V probably damaging Het
Mks1 T C 11: 87,746,325 (GRCm39) S97P probably benign Het
Mphosph9 A T 5: 124,463,024 (GRCm39) V7E probably damaging Het
Msh5 A G 17: 35,248,900 (GRCm39) L711P probably damaging Het
Naga T A 15: 82,216,404 (GRCm39) probably null Het
Nherf4 A G 9: 44,159,980 (GRCm39) V380A probably benign Het
Nlrp10 T A 7: 108,524,953 (GRCm39) T176S possibly damaging Het
Nqo1 T C 8: 108,115,582 (GRCm39) N232D probably benign Het
Or1j21 C G 2: 36,683,585 (GRCm39) N112K possibly damaging Het
Or2b6 T A 13: 21,823,418 (GRCm39) I92L probably damaging Het
P2ry6 A G 7: 100,587,603 (GRCm39) F252S probably damaging Het
P3h3 G A 6: 124,831,835 (GRCm39) R317W probably benign Het
Pakap T A 4: 57,710,173 (GRCm39) C373S probably damaging Het
Phkb T A 8: 86,602,327 (GRCm39) D39E probably benign Het
Psg16 G A 7: 16,822,112 (GRCm39) G23D probably damaging Het
Ptgr2 T A 12: 84,349,111 (GRCm39) I150K probably benign Het
Ptprf A G 4: 118,070,011 (GRCm39) V1457A probably benign Het
Sart3 A T 5: 113,889,301 (GRCm39) Y508N probably benign Het
Ska3 A T 14: 58,054,148 (GRCm39) N267K probably benign Het
Slc26a7 A G 4: 14,524,498 (GRCm39) I462T probably benign Het
Slu7 C T 11: 43,332,316 (GRCm39) A244V probably benign Het
Smarca4 C T 9: 21,548,671 (GRCm39) P319L probably damaging Het
Smg9 A G 7: 24,120,286 (GRCm39) D420G probably benign Het
Strc T A 2: 121,205,439 (GRCm39) D25V probably benign Het
Syne2 T G 12: 76,108,424 (GRCm39) V936G probably damaging Het
Tbc1d7 C T 13: 43,306,409 (GRCm39) probably benign Het
Terb1 C A 8: 105,173,831 (GRCm39) D751Y probably damaging Het
Trpc1 A G 9: 95,603,303 (GRCm39) Y410H probably damaging Het
Ush2a A G 1: 188,089,043 (GRCm39) N333D probably benign Het
Usp34 T C 11: 23,402,520 (GRCm39) S2438P probably damaging Het
Vps35l T C 7: 118,353,072 (GRCm39) V189A probably benign Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Zfp7 G A 15: 76,774,810 (GRCm39) G284D possibly damaging Het
Zfyve26 A G 12: 79,286,776 (GRCm39) S2271P probably damaging Het
Zscan18 G A 7: 12,509,147 (GRCm39) 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
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
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'- TGTCATGTGCACAGACACGC -3'
(R):5'- TCTCTGAAATGAGGCCCCTG -3'

Sequencing Primer
(F):5'- GTTGCCTTCACAGCCAAGC -3'
(R):5'- TGTAGCTACTCCCTGGTC -3'
Posted On 2018-04-02