Incidental Mutation 'R6678:Sh3bp1'
ID 527359
Institutional Source Beutler Lab
Gene Symbol Sh3bp1
Ensembl Gene ENSMUSG00000022436
Gene Name SH3-domain binding protein 1
Synonyms 3BP-1
MMRRC Submission 044797-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R6678 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 78783994-78796247 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 78792714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001226] [ENSMUST00000061239] [ENSMUST00000109698] [ENSMUST00000132047] [ENSMUST00000134703] [ENSMUST00000151146]
AlphaFold P55194
Predicted Effect probably null
Transcript: ENSMUST00000001226
SMART Domains Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436

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 null
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 null
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 null
Transcript: ENSMUST00000134703
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: ENSMUST00000231057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229803
Meta Mutation Damage Score 0.9491 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,499,891 (GRCm39) N644S possibly damaging Het
Agl C A 3: 116,546,969 (GRCm39) V1294F probably damaging Het
Ash2l A C 8: 26,323,805 (GRCm39) W125G probably damaging Het
Dap C T 15: 31,273,396 (GRCm39) T51M probably benign Het
Dnah12 G A 14: 26,456,847 (GRCm39) R871H probably damaging Het
Filip1l T C 16: 57,390,333 (GRCm39) I307T probably benign Het
Gdap1l1 T A 2: 163,280,574 (GRCm39) S37T probably benign Het
Gm43302 G T 5: 105,438,820 (GRCm39) Q23K probably benign Het
Golga2 T C 2: 32,189,072 (GRCm39) V227A probably damaging Het
Gramd4 A T 15: 85,975,704 (GRCm39) S74C probably damaging Het
Gramd4 G C 15: 85,975,705 (GRCm39) S74T possibly damaging Het
Hsph1 A C 5: 149,541,962 (GRCm39) S755A probably benign Het
Inppl1 A G 7: 101,481,477 (GRCm39) V235A probably damaging Het
Kcnc1 A G 7: 46,047,229 (GRCm39) H43R probably benign Het
Klhl41 T G 2: 69,501,188 (GRCm39) S216R probably benign Het
Kmt2e A G 5: 23,704,293 (GRCm39) E1162G possibly damaging Het
Lrp1 G A 10: 127,396,005 (GRCm39) H2422Y probably damaging Het
Ms4a13 T C 19: 11,161,222 (GRCm39) I106V probably benign Het
Myo1f G A 17: 33,794,819 (GRCm39) D20N probably damaging Het
Ndel1 T C 11: 68,724,239 (GRCm39) T245A possibly damaging Het
Or5al1 A T 2: 85,990,529 (GRCm39) F62I probably damaging Het
P2rx6 C A 16: 17,388,820 (GRCm39) N360K probably benign Het
Pcdhgb5 C T 18: 37,864,255 (GRCm39) L17F probably damaging Het
Plcl1 A G 1: 55,734,935 (GRCm39) K92R probably benign Het
Prelp C T 1: 133,842,513 (GRCm39) D211N probably benign Het
Rgl1 T C 1: 152,400,475 (GRCm39) Y677C probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rreb1 G T 13: 38,083,675 (GRCm39) D113Y probably damaging Het
Sf1 T A 19: 6,424,543 (GRCm39) probably null Het
Shprh T A 10: 11,042,289 (GRCm39) D757E probably benign Het
Slc6a1 A G 6: 114,284,737 (GRCm39) K81R probably benign Het
Spata31e4 A G 13: 50,855,946 (GRCm39) K528R probably benign Het
Ttc22 T A 4: 106,480,242 (GRCm39) S165R probably benign Het
Vmn1r113 G A 7: 20,521,903 (GRCm39) G232S probably benign Het
Vwa7 C A 17: 35,238,776 (GRCm39) A288D probably damaging Het
Wdpcp A G 11: 21,671,105 (GRCm39) I449V probably benign Het
Wdsub1 G A 2: 59,692,975 (GRCm39) T313I probably benign Het
Zyg11a A G 4: 108,046,878 (GRCm39) V532A 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
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'- GAACTTGACCCCTGTTCATACC -3'
(R):5'- AGTTGTAAATCCCACTGTCCC -3'

Sequencing Primer
(F):5'- GACCCCTGTTCATACCATCTCTAG -3'
(R):5'- TTCTCAGGAAATGAACAATGCCTGG -3'
Posted On 2018-07-23