Incidental Mutation 'IGL00236:Sh3bp5'
ID2153
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3bp5
Ensembl Gene ENSMUSG00000021892
Gene NameSH3-domain binding protein 5 (BTK-associated)
SynonymsSab
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock #IGL00236
Quality Score
Status
Chromosome14
Chromosomal Location31359880-31436078 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 31379390 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 212 (K212*)
Ref Sequence ENSEMBL: ENSMUSP00000117152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091903] [ENSMUST00000100730] [ENSMUST00000140002]
Predicted Effect probably null
Transcript: ENSMUST00000091903
AA Change: K212*
SMART Domains Protein: ENSMUSP00000089517
Gene: ENSMUSG00000021892
AA Change: K212*

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 null
Transcript: ENSMUST00000100730
AA Change: K210*
SMART Domains Protein: ENSMUSP00000098296
Gene: ENSMUSG00000021892
AA Change: K210*

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 null
Transcript: ENSMUST00000140002
AA Change: K212*
SMART Domains Protein: ENSMUSP00000117152
Gene: ENSMUSG00000021892
AA Change: K212*

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh1 A G 12: 87,443,697 V43A probably damaging Het
Ankrd17 A T 5: 90,233,928 S2460T probably damaging Het
Ap4e1 T C 2: 127,028,281 L176P probably damaging Het
Caprin2 A G 6: 148,843,071 I952T probably damaging Het
Cdkl4 A T 17: 80,525,276 probably benign Het
Cfap44 T C 16: 44,407,404 L156P probably damaging Het
Dock9 A G 14: 121,668,468 L90S probably benign Het
Efhb T C 17: 53,462,453 D276G probably damaging Het
Ep300 A G 15: 81,641,418 D1481G unknown Het
Fam83b T C 9: 76,490,978 I948V probably benign Het
Fbxl5 G T 5: 43,765,336 H247N probably damaging Het
Fn1 A G 1: 71,652,873 I37T probably benign Het
Hfe C T 13: 23,705,852 probably benign Het
Ighv1-36 A T 12: 114,880,150 L29Q possibly damaging Het
Inpp5e G T 2: 26,408,521 Q23K probably benign Het
L3mbtl1 T C 2: 162,967,063 S619P probably damaging Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Ntrk1 C T 3: 87,791,438 V99M possibly damaging Het
Olfr1489 A T 19: 13,633,539 I143F probably benign Het
Olfr571 T C 7: 102,909,272 H189R probably damaging Het
Pard6a T C 8: 105,702,814 S135P probably damaging Het
Prss43 G T 9: 110,829,470 Q279H probably benign Het
Ptcd2 T C 13: 99,330,065 N207D probably benign Het
Ros1 T C 10: 52,194,890 I23V probably benign Het
Scg5 A G 2: 113,827,570 probably benign Het
Slc25a30 C T 14: 75,766,925 G244D possibly damaging Het
Slc38a10 T C 11: 120,106,602 R689G probably damaging Het
Spatc1 A G 15: 76,284,794 D321G probably damaging Het
Stat4 A T 1: 52,102,878 Y628F probably damaging Het
Wdr35 G A 12: 9,019,900 V813I probably benign Het
Other mutations in Sh3bp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02828:Sh3bp5 APN 14 31434149 splice site probably benign
R1925:Sh3bp5 UTSW 14 31435923 missense probably benign
R2511:Sh3bp5 UTSW 14 31411629 missense probably damaging 1.00
R4798:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R4799:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5303:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5306:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5307:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5308:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5400:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5401:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5402:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5421:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5422:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5496:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5498:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5500:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5687:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5688:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5724:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5762:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5765:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5862:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5938:Sh3bp5 UTSW 14 31387834 missense possibly damaging 0.65
R5940:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R5941:Sh3bp5 UTSW 14 31377495 missense probably benign 0.06
R6516:Sh3bp5 UTSW 14 31375672 missense possibly damaging 0.84
R6935:Sh3bp5 UTSW 14 31379516 missense probably damaging 0.96
R7309:Sh3bp5 UTSW 14 31378289 missense probably benign 0.21
R8196:Sh3bp5 UTSW 14 31417442 missense probably benign 0.21
R8224:Sh3bp5 UTSW 14 31377516 missense probably damaging 0.97
R8535:Sh3bp5 UTSW 14 31417418 missense probably benign
Posted On2011-12-09