Incidental Mutation 'R5498:Sh3bp5'
ID 432488
Institutional Source Beutler Lab
Gene Symbol Sh3bp5
Ensembl Gene ENSMUSG00000021892
Gene Name SH3-domain binding protein 5 (BTK-associated)
Synonyms Sab
MMRRC Submission 043059-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.228) question?
Stock # R5498 (G1)
Quality Score 141
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: 98.2%
  • 3x: 97.2%
  • 10x: 94.8%
  • 20x: 89.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T A 5: 109,885,413 (GRCm39) K148N probably benign Het
Abca6 T A 11: 110,099,670 (GRCm39) D959V possibly damaging Het
Acot12 T C 13: 91,929,352 (GRCm39) V393A probably damaging Het
Ano3 C A 2: 110,527,448 (GRCm39) V587F possibly damaging Het
Bub1 T C 2: 127,656,629 (GRCm39) D471G possibly damaging Het
Cdh15 G T 8: 123,591,917 (GRCm39) V601F possibly damaging Het
Cdt1 C T 8: 123,297,239 (GRCm39) R311W probably damaging Het
Cnot1 A T 8: 96,483,983 (GRCm39) I706N possibly damaging Het
Fbn1 A G 2: 125,202,096 (GRCm39) I1259T probably damaging Het
Furin A T 7: 80,041,542 (GRCm39) W539R probably damaging Het
Hivep1 A T 13: 42,276,634 (GRCm39) probably null Het
Igkv3-9 A G 6: 70,565,727 (GRCm39) M109V probably benign Het
Klf10 G A 15: 38,296,283 (GRCm39) R421W probably damaging Het
Mtor A T 4: 148,624,821 (GRCm39) Y2144F possibly damaging Het
Mybpc2 T C 7: 44,165,689 (GRCm39) Y297C probably damaging Het
Myom2 G A 8: 15,179,142 (GRCm39) E1325K probably benign Het
Nsd1 A T 13: 55,361,115 (GRCm39) K28* probably null Het
Or2r11 C T 6: 42,437,228 (GRCm39) A242T probably benign Het
Or51b4 T G 7: 103,530,839 (GRCm39) T204P probably damaging Het
Phc2 C A 4: 128,602,787 (GRCm39) N120K probably benign Het
Pias3 A G 3: 96,609,504 (GRCm39) T274A possibly damaging Het
Plcb4 T A 2: 135,818,092 (GRCm39) I786N probably damaging Het
Plec G A 15: 76,061,654 (GRCm39) S2626L probably damaging Het
Polg A G 7: 79,104,418 (GRCm39) L819P probably damaging Het
Ppp2r3d T C 9: 124,439,123 (GRCm38) probably benign Het
Resf1 A G 6: 149,229,738 (GRCm39) D928G probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnpc3 A G 3: 113,404,856 (GRCm39) probably null Het
Sarnp T A 10: 128,689,063 (GRCm39) D65E probably benign Het
Slc16a10 C T 10: 39,913,323 (GRCm39) V462M probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slfn5 A T 11: 82,847,973 (GRCm39) H286L possibly damaging Het
Spag17 G A 3: 100,010,661 (GRCm39) A2052T possibly damaging Het
Sptbn5 A T 2: 119,907,119 (GRCm39) probably benign Het
Tlr3 C T 8: 45,851,851 (GRCm39) D349N possibly damaging Het
Trim45 T C 3: 100,832,457 (GRCm39) V230A possibly damaging Het
Ube3b T C 5: 114,556,635 (GRCm39) F989L probably damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wdr24 A G 17: 26,043,535 (GRCm39) H119R probably damaging Het
Yars2 T A 16: 16,124,387 (GRCm39) H331Q possibly damaging Het
Zscan21 T C 5: 138,131,522 (GRCm39) S349P probably benign 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
R5500: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