Incidental Mutation 'R4852:Sh3bp1'
ID 472682
Institutional Source Beutler Lab
Gene Symbol Sh3bp1
Ensembl Gene ENSMUSG00000022436
Gene Name SH3-domain binding protein 1
Synonyms 3BP-1
MMRRC Submission 042464-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R4852 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 78783994-78796247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78788538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 229 (H229Q)
Ref Sequence ENSEMBL: ENSMUSP00000138598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001226] [ENSMUST00000061239] [ENSMUST00000109698] [ENSMUST00000132047] [ENSMUST00000134703] [ENSMUST00000148893] [ENSMUST00000151146]
AlphaFold P55194
Predicted Effect probably benign
Transcript: ENSMUST00000001226
AA Change: H229Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436
AA Change: H229Q

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
AA Change: H229Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000052181
Gene: ENSMUSG00000022436
AA Change: H229Q

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
AA Change: H229Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000105320
Gene: ENSMUSG00000022436
AA Change: H229Q

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
AA Change: H229Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000138598
Gene: ENSMUSG00000022436
AA Change: H229Q

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
AA Change: H165Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000148893
SMART Domains Protein: ENSMUSP00000117839
Gene: ENSMUSG00000022436

DomainStartEndE-ValueType
Blast:BAR 2 55 1e-5 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000151146
AA Change: S204T
SMART Domains Protein: ENSMUSP00000138780
Gene: ENSMUSG00000022436
AA Change: S204T

DomainStartEndE-ValueType
Pfam:BAR 2 143 9e-22 PFAM
low complexity region 160 177 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231057
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4921524L21Rik C G 18: 6,623,487 (GRCm39) L66V possibly damaging Het
4921524L21Rik T A 18: 6,623,488 (GRCm39) L66Q probably damaging Het
Abca6 A G 11: 110,135,029 (GRCm39) V252A probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Acap1 C T 11: 69,775,202 (GRCm39) V354M probably benign Het
Accs T C 2: 93,674,605 (GRCm39) D99G probably damaging Het
Adam9 T C 8: 25,493,317 (GRCm39) Y97C probably damaging Het
Akap6 T C 12: 53,151,458 (GRCm39) V1174A probably damaging Het
Aknad1 C A 3: 108,659,056 (GRCm39) D23E probably damaging Het
Ano2 T C 6: 125,959,886 (GRCm39) C666R possibly damaging Het
Atp4a G A 7: 30,423,693 (GRCm39) A933T probably benign Het
Atxn2 T C 5: 121,952,474 (GRCm39) L224P probably damaging Het
Bin2 T C 15: 100,543,169 (GRCm39) E338G probably damaging Het
Bloc1s5 T C 13: 38,818,960 (GRCm39) K20E probably damaging Het
Bst1 A T 5: 43,977,867 (GRCm39) D72V probably benign Het
Cacna1i T C 15: 80,272,680 (GRCm39) F1631L probably damaging Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Cfap43 A G 19: 47,885,550 (GRCm39) I355T possibly damaging Het
Chuk A T 19: 44,077,197 (GRCm39) M383K possibly damaging Het
Cnga4 A G 7: 105,054,937 (GRCm39) I174V probably benign Het
Cpd T C 11: 76,675,976 (GRCm39) K1226E probably benign Het
Crip2 T C 12: 113,104,204 (GRCm39) C5R probably damaging Het
Cyp3a11 T A 5: 145,797,305 (GRCm39) D358V probably damaging Het
Ebag9 T C 15: 44,487,915 (GRCm39) F21S probably damaging Het
Ercc1 A T 7: 19,084,629 (GRCm39) H70L probably damaging Het
Exoc3 G A 13: 74,347,764 (GRCm39) R69C probably damaging Het
Fgfr4 A T 13: 55,308,969 (GRCm39) R363S possibly damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm7489 T A 15: 53,749,434 (GRCm39) probably benign Het
Gphn G A 12: 78,673,984 (GRCm39) V526M probably damaging Het
Gpr152 G A 19: 4,193,790 (GRCm39) V444I probably benign Het
Gss T C 2: 155,406,785 (GRCm39) E330G probably benign Het
Hbs1l A G 10: 21,234,287 (GRCm39) D556G possibly damaging Het
Helz2 T C 2: 180,871,913 (GRCm39) T2619A probably damaging Het
Hk3 A G 13: 55,160,409 (GRCm39) F304L probably damaging Het
Itgad A T 7: 127,797,702 (GRCm39) N906Y probably damaging Het
Jakmip2 T C 18: 43,710,465 (GRCm39) E246G probably damaging Het
L3mbtl4 A T 17: 68,866,748 (GRCm39) H329L probably damaging Het
Mau2 A G 8: 70,485,827 (GRCm39) probably null Het
Myo16 T C 8: 10,423,474 (GRCm39) L270P probably damaging Het
Naa25 T C 5: 121,568,755 (GRCm39) S606P probably damaging Het
Nags T A 11: 102,037,447 (GRCm39) C179* probably null Het
Naip2 A G 13: 100,298,044 (GRCm39) M664T probably benign Het
Ndufv3 T C 17: 31,747,043 (GRCm39) I311T probably benign Het
Nipsnap1 G T 11: 4,841,468 (GRCm39) E258* probably null Het
Nudc A G 4: 133,261,660 (GRCm39) L208P probably damaging Het
Or1e32 T C 11: 73,705,074 (GRCm39) Y278C probably benign Het
Or51a39 A T 7: 102,362,750 (GRCm39) V290E probably damaging Het
Oscp1 A G 4: 125,970,652 (GRCm39) D137G possibly damaging Het
Pcdhb5 C T 18: 37,455,524 (GRCm39) P635S probably benign Het
Pcdhgb2 T A 18: 37,825,103 (GRCm39) I698N probably damaging Het
Pde4b A G 4: 102,454,967 (GRCm39) Y399C probably damaging Het
Pdf A T 8: 107,774,812 (GRCm39) V140E probably damaging Het
Pglyrp2 T C 17: 32,634,823 (GRCm39) N513S probably benign Het
Ranbp2 T A 10: 58,312,878 (GRCm39) D1199E possibly damaging Het
Rell2 G T 18: 38,089,621 (GRCm39) probably null Het
Rgl2 A G 17: 34,156,147 (GRCm39) H745R probably benign Het
Rnf121 A G 7: 101,672,592 (GRCm39) C264R probably damaging Het
Rnf181 A G 6: 72,338,499 (GRCm39) F3S probably damaging Het
Rsrc1 T A 3: 67,262,935 (GRCm39) D296E probably damaging Het
Rubcn A T 16: 32,663,678 (GRCm39) D319E probably damaging Het
Scaf8 T C 17: 3,228,494 (GRCm39) S431P unknown Het
Septin11 T A 5: 93,310,112 (GRCm39) M305K possibly damaging Het
Serpinb12 A G 1: 106,884,132 (GRCm39) K293E probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Specc1 T A 11: 62,102,510 (GRCm39) V952E probably damaging Het
Spint2 G A 7: 28,956,211 (GRCm39) T158I probably benign Het
St8sia4 A T 1: 95,588,623 (GRCm39) W71R probably damaging Het
Tex48 C T 4: 63,530,151 (GRCm39) V23I possibly damaging Het
Tmc5 G A 7: 118,244,562 (GRCm39) G480D probably benign Het
Tmem8b T A 4: 43,689,713 (GRCm39) M330K probably damaging Het
Tnrc18 C T 5: 142,717,095 (GRCm39) R2453Q probably damaging Het
Trank1 A T 9: 111,220,963 (GRCm39) N2567Y possibly damaging Het
Trps1 T C 15: 50,709,705 (GRCm39) D211G probably damaging Het
Ttn T C 2: 76,555,503 (GRCm39) R30501G probably damaging Het
Ttn T A 2: 76,573,247 (GRCm39) Y25882F probably damaging Het
Unc79 T A 12: 103,139,725 (GRCm39) V2495E probably damaging Het
Uqcr10 T A 11: 4,652,198 (GRCm39) H58L possibly damaging Het
Usp7 A T 16: 8,574,708 (GRCm39) C58* probably null Het
Vmn1r36 A T 6: 66,693,872 (GRCm39) M1K probably null Het
Wdr7 T A 18: 63,911,020 (GRCm39) M804K probably damaging Het
Zfp131 A C 13: 120,250,394 (GRCm39) probably null Het
Zfp507 A G 7: 35,493,480 (GRCm39) V521A 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
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'- AGGACCCAGCATAAAGACCTGG -3'
(R):5'- AGTGAGGTCAGTGACTTGCG -3'

Sequencing Primer
(F):5'- AATTTAAGAGGCCCCCTGTG -3'
(R):5'- GGTGGTAGTCAGCCTGAATCTCC -3'
Posted On 2017-04-14