Incidental Mutation 'R7744:Sh3bp1'
ID 596757
Institutional Source Beutler Lab
Gene Symbol Sh3bp1
Ensembl Gene ENSMUSG00000022436
Gene Name SH3-domain binding protein 1
Synonyms 3BP-1
MMRRC Submission 045800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R7744 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 78783994-78796247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 78794209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 526 (T526P)
Ref Sequence ENSEMBL: ENSMUSP00000052181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001226] [ENSMUST00000061239] [ENSMUST00000089378] [ENSMUST00000109698] [ENSMUST00000132047] [ENSMUST00000134703] [ENSMUST00000151146]
AlphaFold P55194
Predicted Effect possibly damaging
Transcript: ENSMUST00000001226
AA Change: T526P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436
AA Change: T526P

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 possibly damaging
Transcript: ENSMUST00000061239
AA Change: T526P

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000052181
Gene: ENSMUSG00000022436
AA Change: T526P

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 possibly damaging
Transcript: ENSMUST00000109698
AA Change: T526P

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105320
Gene: ENSMUSG00000022436
AA Change: T526P

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 possibly damaging
Transcript: ENSMUST00000132047
AA Change: T526P

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138598
Gene: ENSMUSG00000022436
AA Change: T526P

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 possibly damaging
Transcript: ENSMUST00000134703
AA Change: T462P

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
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
Meta Mutation Damage Score 0.0709 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,240,421 (GRCm39) N761K possibly damaging Het
Abi2 A G 1: 60,476,362 (GRCm39) I145V probably benign Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Atf7ip2 T A 16: 10,059,522 (GRCm39) V354E possibly damaging Het
Bglap T C 3: 88,290,958 (GRCm39) Y91C probably damaging Het
Cacna1e A T 1: 154,341,538 (GRCm39) S1219T probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cd177 A G 7: 24,449,800 (GRCm39) C562R probably damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Chd7 T A 4: 8,862,485 (GRCm39) probably null Het
Dyrk3 A G 1: 131,057,543 (GRCm39) V210A probably damaging Het
Eif3c C A 7: 126,158,066 (GRCm39) G297W probably damaging Het
Eml1 A G 12: 108,482,863 (GRCm39) H494R probably benign Het
Enpp2 A T 15: 54,764,629 (GRCm39) probably null Het
Fbxw21 C A 9: 108,986,720 (GRCm39) C53F possibly damaging Het
Fndc3a C A 14: 72,799,156 (GRCm39) G609V possibly damaging Het
Grid1 A G 14: 35,172,036 (GRCm39) D514G probably damaging Het
Gxylt2 T C 6: 100,760,278 (GRCm39) V271A probably damaging Het
Hes1 A G 16: 29,884,997 (GRCm39) K74R probably damaging Het
Igsf9 A G 1: 172,319,752 (GRCm39) N349S probably benign Het
Isx T A 8: 75,600,285 (GRCm39) I6N possibly damaging Het
Kcnb1 A T 2: 167,030,251 (GRCm39) F98Y probably damaging Het
Kif1b G C 4: 149,321,532 (GRCm39) T1129R possibly damaging Het
Klra10 T A 6: 130,249,724 (GRCm39) probably null Het
Mcm10 A T 2: 4,996,253 (GRCm39) L870Q probably damaging Het
Mettl16 T A 11: 74,693,829 (GRCm39) I280K probably benign Het
Mre11a G A 9: 14,721,128 (GRCm39) R349Q possibly damaging Het
Mrpl10 C T 11: 96,935,402 (GRCm39) T34I probably damaging Het
Muc16 T A 9: 18,496,392 (GRCm39) probably null Het
Myt1l T C 12: 29,877,548 (GRCm39) C400R unknown Het
Nbr1 C T 11: 101,460,210 (GRCm39) T402M probably damaging Het
Ndufs1 A G 1: 63,200,099 (GRCm39) M271T possibly damaging Het
Or10q1 A G 19: 13,727,419 (GRCm39) *316W probably null Het
Or4c29 C T 2: 88,740,003 (GRCm39) V245I possibly damaging Het
Or51f23c-ps1 G T 7: 102,431,597 (GRCm39) V305L probably benign Het
Pakap T C 4: 57,709,519 (GRCm39) S155P probably damaging Het
Pced1a C T 2: 130,263,972 (GRCm39) D227N probably damaging Het
Phf21b A G 15: 84,689,070 (GRCm39) I152T probably damaging Het
Pla2g4a A G 1: 149,736,853 (GRCm39) V430A probably benign Het
Plbd1 T C 6: 136,594,244 (GRCm39) E335G probably benign Het
Plce1 G A 19: 38,608,899 (GRCm39) V403M possibly damaging Het
Pnpla6 T A 8: 3,581,677 (GRCm39) N642K probably benign Het
Ptprb T C 10: 116,113,389 (GRCm39) I123T probably benign Het
Rab3il1 T A 19: 10,005,641 (GRCm39) probably null Het
Ranbp3 C T 17: 57,015,219 (GRCm39) T307M possibly damaging Het
Rasgrp2 T C 19: 6,455,031 (GRCm39) S254P probably damaging Het
Rgl3 T C 9: 21,898,866 (GRCm39) K191R probably benign Het
Rnf223 G A 4: 156,216,982 (GRCm39) R119H probably benign Het
Sapcd2 C T 2: 25,263,508 (GRCm39) P217S unknown Het
Setd7 C T 3: 51,434,261 (GRCm39) probably null Het
Slc17a4 C A 13: 24,085,767 (GRCm39) W382L probably benign Het
Slc26a3 A T 12: 31,513,464 (GRCm39) probably null Het
Tmem129 A G 5: 33,811,732 (GRCm39) L356P probably damaging Het
Trib1 T A 15: 59,526,512 (GRCm39) Y361N probably benign Het
Xirp1 T A 9: 119,845,912 (GRCm39) R990S possibly damaging Het
Zfp950 A C 19: 61,116,010 (GRCm39) 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
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
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'- ACACCTGAAGTATCTAGTCAAGAG -3'
(R):5'- CCAAGGAATAAGCTGGGTCC -3'

Sequencing Primer
(F):5'- TCAAGAGACTAAGACCGAGGACAC -3'
(R):5'- GCCCAGAGCTTCTCACTATG -3'
Posted On 2019-11-26