Incidental Mutation 'IGL01879:Sh3bp1'
ID 178996
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3bp1
Ensembl Gene ENSMUSG00000022436
Gene Name SH3-domain binding protein 1
Synonyms 3BP-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # IGL01879
Quality Score
Status
Chromosome 15
Chromosomal Location 78783994-78796247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 78792192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 450 (S450A)
Ref Sequence ENSEMBL: ENSMUSP00000138598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001226] [ENSMUST00000061239] [ENSMUST00000109698] [ENSMUST00000132047] [ENSMUST00000134703] [ENSMUST00000151146]
AlphaFold P55194
Predicted Effect probably damaging
Transcript: ENSMUST00000001226
AA Change: S450A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436
AA Change: S450A

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 damaging
Transcript: ENSMUST00000061239
AA Change: S450A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052181
Gene: ENSMUSG00000022436
AA Change: S450A

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 damaging
Transcript: ENSMUST00000109698
AA Change: S450A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105320
Gene: ENSMUSG00000022436
AA Change: S450A

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 damaging
Transcript: ENSMUST00000132047
AA Change: S450A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138598
Gene: ENSMUSG00000022436
AA Change: S450A

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: S386A

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150472
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: ENSMUST00000229492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229803
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cgn G A 3: 94,681,674 (GRCm39) R474* probably null Het
Chmp4b T C 2: 154,534,601 (GRCm39) probably benign Het
Chst15 A G 7: 131,871,994 (GRCm39) Y96H possibly damaging Het
Clstn3 A G 6: 124,415,769 (GRCm39) S638P probably damaging Het
Colq C T 14: 31,265,952 (GRCm39) G187E probably damaging Het
Cyp2b23 A G 7: 26,372,279 (GRCm39) Y389H probably benign Het
Cyp3a13 T C 5: 137,917,265 (GRCm39) Q54R probably benign Het
Dscc1 T C 15: 54,950,212 (GRCm39) I178V probably benign Het
Fbxo4 G A 15: 4,005,436 (GRCm39) T148M probably damaging Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gpr162 A G 6: 124,838,204 (GRCm39) S149P probably damaging Het
Grid1 T A 14: 35,172,327 (GRCm39) I611N possibly damaging Het
Mgat5 T C 1: 127,325,287 (GRCm39) F385L probably damaging Het
Npepps T C 11: 97,149,166 (GRCm39) T17A possibly damaging Het
Or4c125 T C 2: 89,170,366 (GRCm39) I93M probably benign Het
Or4n4b A G 14: 50,535,969 (GRCm39) S266P probably benign Het
Or5p60 A T 7: 107,724,371 (GRCm39) I33N possibly damaging Het
Or7g29 A T 9: 19,286,703 (GRCm39) L158* probably null Het
Parg T C 14: 31,993,579 (GRCm39) probably benign Het
Rad51ap2 A G 12: 11,508,139 (GRCm39) D687G probably benign Het
Skap2 T C 6: 51,973,014 (GRCm39) D90G possibly damaging Het
Smc5 C T 19: 23,205,548 (GRCm39) R796H probably damaging Het
Tdrd12 A C 7: 35,221,348 (GRCm39) I146S probably damaging Het
Tinf2 T C 14: 55,918,363 (GRCm39) probably benign Het
Trio G A 15: 27,741,119 (GRCm39) T2702I probably benign Het
Vmn1r88 T A 7: 12,912,229 (GRCm39) M195K probably benign Het
Vmn2r110 T C 17: 20,794,122 (GRCm39) H849R probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r4 C T 3: 64,298,431 (GRCm39) G566R probably damaging Het
Wdpcp A G 11: 21,661,630 (GRCm39) T301A probably damaging Het
Other mutations in Sh3bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Sh3bp1 APN 15 78,789,314 (GRCm39) missense possibly damaging 0.58
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
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
Posted On 2014-05-07