Incidental Mutation 'R9057:Sh3bp1'
ID 688773
Institutional Source Beutler Lab
Gene Symbol Sh3bp1
Ensembl Gene ENSMUSG00000022436
Gene Name SH3-domain binding protein 1
Synonyms 3BP-1
MMRRC Submission 068883-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R9057 (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 G at 78794209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 526 (T526A)
Ref Sequence ENSEMBL: ENSMUSP00000052181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001226] [ENSMUST00000061239] [ENSMUST00000089378] [ENSMUST00000109698] [ENSMUST00000132047] [ENSMUST00000134703] [ENSMUST00000151146]
AlphaFold P55194
Predicted Effect probably benign
Transcript: ENSMUST00000001226
AA Change: T526A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436
AA Change: T526A

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: T526A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000052181
Gene: ENSMUSG00000022436
AA Change: T526A

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
AA Change: T526A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105320
Gene: ENSMUSG00000022436
AA Change: T526A

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: T526A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138598
Gene: ENSMUSG00000022436
AA Change: T526A

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: T462A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T A 9: 63,524,782 (GRCm39) probably benign Het
Abca2 G A 2: 25,331,584 (GRCm39) D1324N probably benign Het
Acat1 C T 9: 53,503,300 (GRCm39) G180R probably damaging Het
AI837181 A C 19: 5,476,730 (GRCm39) T298P probably damaging Het
Alms1 T A 6: 85,586,814 (GRCm39) D556E unknown Het
Ankle1 T A 8: 71,858,961 (GRCm39) W65R probably benign Het
Ano5 A G 7: 51,203,654 (GRCm39) N234S probably benign Het
Asb7 T A 7: 66,309,395 (GRCm39) probably benign Het
Atad2b T A 12: 5,068,102 (GRCm39) C1033* probably null Het
B4galnt1 A G 10: 127,006,999 (GRCm39) D452G probably damaging Het
B4gat1 G T 19: 5,089,056 (GRCm39) A18S possibly damaging Het
Bard1 A G 1: 71,069,807 (GRCm39) Y724H probably damaging Het
Bcl9 A T 3: 97,112,306 (GRCm39) M1383K possibly damaging Het
Cenpt C A 8: 106,576,405 (GRCm39) *43L probably null Het
Ces2f C A 8: 105,674,744 (GRCm39) H49N probably benign Het
Col17a1 A T 19: 47,637,522 (GRCm39) D1245E probably damaging Het
Col19a1 G T 1: 24,549,962 (GRCm39) H312N unknown Het
Cyb5d2 C T 11: 72,679,924 (GRCm39) E124K probably benign Het
Dnah5 C T 15: 28,391,014 (GRCm39) A3291V probably damaging Het
Exo5 A T 4: 120,779,186 (GRCm39) D226E probably damaging Het
Ggt6 C T 11: 72,328,067 (GRCm39) T189M probably damaging Het
Gm5592 C A 7: 40,938,887 (GRCm39) S723Y possibly damaging Het
Golga3 C T 5: 110,332,465 (GRCm39) T133M probably damaging Het
Heatr5a C T 12: 51,986,420 (GRCm39) E598K probably damaging Het
Hfe T A 13: 23,889,658 (GRCm39) I330F possibly damaging Het
Htt A G 5: 35,009,454 (GRCm39) I1478M possibly damaging Het
Igf1r T C 7: 67,833,186 (GRCm39) F449L probably damaging Het
Ints4 T C 7: 97,158,987 (GRCm39) V453A possibly damaging Het
Ints6 A G 14: 62,951,740 (GRCm39) probably null Het
Klrh1 T A 6: 129,752,803 (GRCm39) M1L probably benign Het
Kpna4 G A 3: 69,002,018 (GRCm39) T248M probably damaging Het
Lactb T C 9: 66,874,977 (GRCm39) I372V possibly damaging Het
Mib1 T A 18: 10,795,728 (GRCm39) D696E possibly damaging Het
Mpzl3 G A 9: 44,979,592 (GRCm39) R181Q probably damaging Het
Mup12 A T 4: 60,696,779 (GRCm39) I33N probably damaging Het
Myh10 A G 11: 68,656,011 (GRCm39) I502V possibly damaging Het
Nacad C A 11: 6,550,876 (GRCm39) V772F possibly damaging Het
Nbeal2 G T 9: 110,456,218 (GRCm39) T2417N probably benign Het
Nif3l1 A G 1: 58,489,648 (GRCm39) D179G probably benign Het
Or2ag17 A T 7: 106,389,296 (GRCm39) V304D probably damaging Het
Or6e1 T C 14: 54,520,148 (GRCm39) E68G probably damaging Het
Pan2 A T 10: 128,156,141 (GRCm39) H1133L probably damaging Het
Pgk2 A G 17: 40,518,735 (GRCm39) V231A possibly damaging Het
Psmd12 G A 11: 107,377,328 (GRCm39) R129Q probably null Het
Rpl23a G A 11: 78,072,021 (GRCm39) R139C probably benign Het
Sars2 G T 7: 28,446,246 (GRCm39) Q158H Het
Scd3 C T 19: 44,224,340 (GRCm39) P191L probably damaging Het
Serac1 C A 17: 6,111,890 (GRCm39) S262I probably damaging Het
Slc26a3 A T 12: 31,520,958 (GRCm39) T721S probably benign Het
Slc8a1 A C 17: 81,955,479 (GRCm39) S520A probably benign Het
Sp9 A T 2: 73,103,613 (GRCm39) S56C probably damaging Het
Spire2 T A 8: 124,095,547 (GRCm39) probably benign Het
Syne2 T G 12: 75,937,167 (GRCm39) L255R probably damaging Het
Tcp11l1 A G 2: 104,528,026 (GRCm39) I156T probably damaging Het
Tnrc6b G A 15: 80,763,349 (GRCm39) A284T probably benign Het
Trappc14 A T 5: 138,260,949 (GRCm39) V232E probably damaging Het
Tsc1 T A 2: 28,575,874 (GRCm39) L919H probably damaging Het
Vps13c T A 9: 67,828,209 (GRCm39) H1454Q probably benign Het
Vps41 T A 13: 19,027,702 (GRCm39) D537E probably benign Het
Wnt16 T A 6: 22,288,823 (GRCm39) C47S probably damaging Het
Zfhx2 C T 14: 55,310,027 (GRCm39) E840K possibly damaging Het
Zfp61 A T 7: 23,990,702 (GRCm39) V483E probably benign Het
Zfp870 A T 17: 33,102,793 (GRCm39) S179T 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
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
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'- CACCTGAAGTATCTAGTCAAGAGAC -3'
(R):5'- CCAAGGAATAAGCTGGGTCC -3'

Sequencing Primer
(F):5'- TCAAGAGACTAAGACCGAGGACAC -3'
(R):5'- GCCCAGAGCTTCTCACTATG -3'
Posted On 2021-11-19