Incidental Mutation 'R5500:Sh3bp5'
ID 430577
Institutional Source Beutler Lab
Gene Symbol Sh3bp5
Ensembl Gene ENSMUSG00000021892
Gene Name SH3-domain binding protein 5 (BTK-associated)
Synonyms Sab
MMRRC Submission 043061-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.228) question?
Stock # R5500 (G1)
Quality Score 209
Status Not validated
Chromosome 14
Chromosomal Location 31094571-31158056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31099452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 265 (R265L)
Ref Sequence ENSEMBL: ENSMUSP00000117152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091903] [ENSMUST00000100730] [ENSMUST00000140002]
AlphaFold Q9Z131
Predicted Effect probably benign
Transcript: ENSMUST00000091903
AA Change: R265L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000089517
Gene: ENSMUSG00000021892
AA Change: R265L

DomainStartEndE-ValueType
Pfam:SH3BP5 42 272 2.2e-99 PFAM
low complexity region 323 335 N/A INTRINSIC
low complexity region 407 428 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100730
AA Change: R263L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000098296
Gene: ENSMUSG00000021892
AA Change: R263L

DomainStartEndE-ValueType
Pfam:SH3BP5 60 274 5.5e-95 PFAM
low complexity region 321 333 N/A INTRINSIC
low complexity region 405 426 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140002
AA Change: R265L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000117152
Gene: ENSMUSG00000021892
AA Change: R265L

DomainStartEndE-ValueType
Pfam:SH3BP5 42 272 2.3e-99 PFAM
low complexity region 323 335 N/A INTRINSIC
low complexity region 407 428 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147586
Meta Mutation Damage Score 0.2831 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,451,508 (GRCm39) Q864L probably benign Het
AI182371 A G 2: 34,990,650 (GRCm39) S16P probably damaging Het
Amy1 A T 3: 113,356,371 (GRCm39) Y262N probably damaging Het
Cdh23 T C 10: 60,150,090 (GRCm39) D2583G probably damaging Het
Ddx60 A G 8: 62,403,485 (GRCm39) K303E probably benign Het
Dis3l2 T C 1: 86,948,841 (GRCm39) probably null Het
Evi5l T A 8: 4,241,658 (GRCm39) M329K probably damaging Het
Fam169b A G 7: 68,000,117 (GRCm39) D221G probably damaging Het
Farsb T C 1: 78,447,761 (GRCm39) D126G probably damaging Het
Gm4847 A G 1: 166,462,611 (GRCm39) I293T probably damaging Het
Ighmbp2 T C 19: 3,318,687 (GRCm39) H463R possibly damaging Het
Iigp1c G A 18: 60,379,092 (GRCm39) R209H probably damaging Het
Kank1 A T 19: 25,401,696 (GRCm39) D1101V possibly damaging Het
Kcnh8 G A 17: 53,033,008 (GRCm39) M98I probably benign Het
Kdsr A G 1: 106,687,374 (GRCm39) probably benign Het
Kif18b A T 11: 102,806,526 (GRCm39) V107E probably damaging Het
Klhl41 A G 2: 69,513,873 (GRCm39) E584G probably damaging Het
Kpnb1 G A 11: 97,063,937 (GRCm39) A389V possibly damaging Het
Krtap31-2 A G 11: 99,827,173 (GRCm39) T2A possibly damaging Het
Lama3 A T 18: 12,589,821 (GRCm39) I784F possibly damaging Het
Lpar1 G A 4: 58,486,573 (GRCm39) R233C probably benign Het
Neb C A 2: 52,052,079 (GRCm39) probably null Het
Neo1 A G 9: 58,824,337 (GRCm39) I697T possibly damaging Het
Ntaq1 T C 15: 58,016,006 (GRCm39) V85A possibly damaging Het
Pgm2l1 T G 7: 99,917,340 (GRCm39) S486A probably benign Het
Prpf40a A T 2: 53,035,296 (GRCm39) S748R probably benign Het
Recql4 A G 15: 76,589,778 (GRCm39) probably benign Het
Rhbdl1 T C 17: 26,055,528 (GRCm39) T20A possibly damaging Het
Ric8a T C 7: 140,438,228 (GRCm39) Y156H probably benign Het
Rnf111 C A 9: 70,383,325 (GRCm39) G203C possibly damaging Het
Slc2a12 G A 10: 22,541,036 (GRCm39) G297E probably damaging Het
Slc35f1 A T 10: 52,809,318 (GRCm39) I102F probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slitrk3 T C 3: 72,957,680 (GRCm39) Y364C probably damaging Het
Tdrd9 T C 12: 111,989,702 (GRCm39) Y505H probably benign Het
Tlr1 G T 5: 65,084,441 (GRCm39) D45E probably benign Het
Upp1 G A 11: 9,081,774 (GRCm39) V104M probably damaging Het
Usp9y A G Y: 1,341,875 (GRCm39) V1330A probably damaging Het
Zbed5 T A 5: 129,930,823 (GRCm39) Y257* probably null Het
Other mutations in Sh3bp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Sh3bp5 APN 14 31,101,347 (GRCm39) nonsense probably null
IGL02828:Sh3bp5 APN 14 31,156,106 (GRCm39) splice site probably benign
R1925:Sh3bp5 UTSW 14 31,157,880 (GRCm39) missense probably benign
R2511:Sh3bp5 UTSW 14 31,133,586 (GRCm39) missense probably damaging 1.00
R4798:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R4799:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5303:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5306:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5307:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5308:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5400:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5401:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5402:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5421:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5422:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5496:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5498:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5687:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5688:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5724:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5762:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5765:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5862:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5938:Sh3bp5 UTSW 14 31,109,791 (GRCm39) missense possibly damaging 0.65
R5940:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R5941:Sh3bp5 UTSW 14 31,099,452 (GRCm39) missense probably benign 0.06
R6516:Sh3bp5 UTSW 14 31,097,629 (GRCm39) missense possibly damaging 0.84
R6935:Sh3bp5 UTSW 14 31,101,473 (GRCm39) missense probably damaging 0.96
R7309:Sh3bp5 UTSW 14 31,100,246 (GRCm39) missense probably benign 0.21
R8196:Sh3bp5 UTSW 14 31,139,399 (GRCm39) missense probably benign 0.21
R8224:Sh3bp5 UTSW 14 31,099,473 (GRCm39) missense probably damaging 0.97
R8535:Sh3bp5 UTSW 14 31,139,375 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATCAAATGAGCACAGCGTCC -3'
(R):5'- TGTTGTAATCATGTGTCACCCC -3'

Sequencing Primer
(F):5'- AGCGTCCCACAATACATGAG -3'
(R):5'- ATGTGTCACCCCCTCCATCAG -3'
Posted On 2016-10-05