Incidental Mutation 'R8200:Sh3bp5l'
ID 635636
Institutional Source Beutler Lab
Gene Symbol Sh3bp5l
Ensembl Gene ENSMUSG00000013646
Gene Name SH3 binding domain protein 5 like
Synonyms 2310074E09Rik
MMRRC Submission 067623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R8200 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 58221550-58238554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58222685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 60 (I60T)
Ref Sequence ENSEMBL: ENSMUSP00000072872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065533] [ENSMUST00000073128] [ENSMUST00000116376] [ENSMUST00000186859]
AlphaFold Q99LH9
Predicted Effect probably benign
Transcript: ENSMUST00000065533
Predicted Effect probably damaging
Transcript: ENSMUST00000073128
AA Change: I60T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000072872
Gene: ENSMUSG00000013646
AA Change: I60T

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
Pfam:SH3BP5 52 289 1.3e-103 PFAM
low complexity region 296 337 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000116376
AA Change: I60T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112077
Gene: ENSMUSG00000013646
AA Change: I60T

DomainStartEndE-ValueType
low complexity region 34 45 N/A INTRINSIC
Pfam:SH3BP5 54 280 2.5e-97 PFAM
low complexity region 296 337 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186859
SMART Domains Protein: ENSMUSP00000140236
Gene: ENSMUSG00000049755

DomainStartEndE-ValueType
ZnF_C2H2 15 37 1.8e-5 SMART
ZnF_C2H2 43 65 3.6e-2 SMART
ZnF_C2H2 71 90 6.1e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.3%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555G01Rik T A 14: 5,052,797 (GRCm38) M132K probably benign Het
Abtb2 A G 2: 103,531,162 (GRCm39) I431V probably benign Het
Ache A G 5: 137,292,457 (GRCm39) Q601R probably damaging Het
Ap3d1 A T 10: 80,558,766 (GRCm39) C279* probably null Het
Brms1l T C 12: 55,891,183 (GRCm39) L79P probably damaging Het
Brpf3 C T 17: 29,025,248 (GRCm39) A107V probably benign Het
Catsperd T C 17: 56,939,368 (GRCm39) probably null Het
Ccnb1ip1 C T 14: 51,029,750 (GRCm39) R104H probably benign Het
Ces1g T A 8: 94,055,085 (GRCm39) N204I probably damaging Het
Cmbl T C 15: 31,585,539 (GRCm39) V141A probably benign Het
Dmxl2 A T 9: 54,387,630 (GRCm39) H69Q probably benign Het
Dnah10 T C 5: 124,905,524 (GRCm39) L4113P probably damaging Het
Fam120a T C 13: 49,102,595 (GRCm39) H220R probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Gm43218 C T 6: 70,217,528 (GRCm39) G76E probably damaging Het
Gypa A T 8: 81,220,695 (GRCm39) T5S unknown Het
Hyal6 A G 6: 24,734,565 (GRCm39) D166G probably benign Het
Immt T A 6: 71,848,421 (GRCm39) V470D probably damaging Het
Itpr1 A G 6: 108,371,826 (GRCm39) S1167G probably benign Het
Ndufs1 A T 1: 63,209,331 (GRCm39) probably null Het
Nr1i3 C A 1: 171,045,266 (GRCm39) H305N probably benign Het
Nucb2 T C 7: 116,132,398 (GRCm39) probably null Het
Plau A C 14: 20,889,181 (GRCm39) K130T possibly damaging Het
Ppef2 A T 5: 92,393,251 (GRCm39) V246E probably benign Het
Prune2 G A 19: 17,102,337 (GRCm39) V2499I probably benign Het
Rnf207 C T 4: 152,398,492 (GRCm39) probably null Het
Septin9 A G 11: 117,123,542 (GRCm39) T7A probably benign Het
Taar9 A G 10: 23,985,317 (GRCm39) L39P probably damaging Het
Tcl1b5 A T 12: 105,145,212 (GRCm39) M59L probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Thap2 A T 10: 115,212,392 (GRCm39) F44L Het
Trp53bp1 A G 2: 121,066,657 (GRCm39) S690P probably benign Het
Ttc9 T C 12: 81,707,435 (GRCm39) Y165H probably damaging Het
Ttll11 A G 2: 35,834,940 (GRCm39) I162T probably damaging Het
Ttll5 T A 12: 85,926,184 (GRCm39) I326N probably damaging Het
Tuft1 A T 3: 94,523,977 (GRCm39) D292E probably damaging Het
Ubap2l T C 3: 89,930,933 (GRCm39) S365G probably benign Het
Ugt2b37 G A 5: 87,388,750 (GRCm39) Q488* probably null Het
Vmo1 A G 11: 70,405,325 (GRCm39) V35A possibly damaging Het
Wdr36 A G 18: 32,998,979 (GRCm39) K875R probably benign Het
Other mutations in Sh3bp5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Sh3bp5l APN 11 58,236,886 (GRCm39) missense probably benign 0.01
IGL01503:Sh3bp5l APN 11 58,228,827 (GRCm39) missense probably damaging 1.00
IGL01903:Sh3bp5l APN 11 58,236,864 (GRCm39) missense probably damaging 0.96
IGL02556:Sh3bp5l APN 11 58,237,087 (GRCm39) missense probably damaging 1.00
IGL02755:Sh3bp5l APN 11 58,228,829 (GRCm39) missense probably benign
R0746:Sh3bp5l UTSW 11 58,237,173 (GRCm39) missense probably benign 0.06
R1801:Sh3bp5l UTSW 11 58,237,177 (GRCm39) missense probably benign
R4646:Sh3bp5l UTSW 11 58,237,177 (GRCm39) missense probably benign
R5049:Sh3bp5l UTSW 11 58,228,950 (GRCm39) intron probably benign
R5715:Sh3bp5l UTSW 11 58,236,841 (GRCm39) missense possibly damaging 0.81
R6791:Sh3bp5l UTSW 11 58,237,098 (GRCm39) missense probably damaging 0.99
R6882:Sh3bp5l UTSW 11 58,222,525 (GRCm39) missense probably benign
R7251:Sh3bp5l UTSW 11 58,232,128 (GRCm39) missense probably damaging 1.00
R7762:Sh3bp5l UTSW 11 58,236,754 (GRCm39) critical splice acceptor site probably null
R9642:Sh3bp5l UTSW 11 58,237,085 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCCAGGAAGCCTCAAACTGG -3'
(R):5'- GCACTTGTCACACTTGTCACAC -3'

Sequencing Primer
(F):5'- AGCCCTCTCTTGTGCATAGGG -3'
(R):5'- ACACTGAACCGCCACGTTTTATG -3'
Posted On 2020-07-13