Incidental Mutation 'IGL02372:Sbk1'
ID290974
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sbk1
Ensembl Gene ENSMUSG00000042978
Gene NameSH3-binding kinase 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.365) question?
Stock #IGL02372
Quality Score
Status
Chromosome7
Chromosomal Location126272619-126295016 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 126291058 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 81 (L81P)
Ref Sequence ENSEMBL: ENSMUSP00000060907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056028] [ENSMUST00000206424]
Predicted Effect probably damaging
Transcript: ENSMUST00000056028
AA Change: L81P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060907
Gene: ENSMUSG00000042978
AA Change: L81P

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
S_TKc 53 318 6.54e-69 SMART
low complexity region 357 394 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206424
Predicted Effect probably benign
Transcript: ENSMUST00000206541
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001P01Rik A T 11: 97,775,699 Y54N probably damaging Het
Alyref A G 11: 120,594,875 probably benign Het
Ankrd27 A G 7: 35,633,036 probably null Het
Arc A G 15: 74,672,105 S90P probably damaging Het
Atp6v1e1 T A 6: 120,801,123 K150N probably benign Het
Atrn T C 2: 131,002,754 probably benign Het
Ccnb1 A G 13: 100,781,316 Y259H probably damaging Het
Celsr1 A G 15: 85,929,907 V1938A probably benign Het
Ckmt2 A G 13: 91,865,224 V37A probably benign Het
Dpys G T 15: 39,793,271 P467T probably benign Het
Ehbp1l1 T C 19: 5,710,834 T1535A possibly damaging Het
Eif4enif1 T C 11: 3,229,986 L302P probably benign Het
Faf1 T G 4: 109,935,582 F584V probably benign Het
Glb1l2 G A 9: 26,796,476 R72C probably damaging Het
Gm9892 T C 8: 52,196,836 noncoding transcript Het
Hecw1 G T 13: 14,264,121 D892E probably damaging Het
Hr A G 14: 70,558,350 E474G possibly damaging Het
Ltbp1 T G 17: 75,252,406 F297V probably damaging Het
Myc A G 15: 61,987,858 N127D probably damaging Het
Nbn T A 4: 15,986,613 N671K probably benign Het
Nup210l C A 3: 90,201,971 T1607N possibly damaging Het
Olfr281 A T 15: 98,456,828 T173S probably damaging Het
Osbpl1a T A 18: 12,841,313 K22* probably null Het
Phf20l1 T C 15: 66,641,801 L942P probably damaging Het
Plekhg5 C T 4: 152,102,080 R40W probably damaging Het
Pomt2 C T 12: 87,122,835 probably benign Het
Rab3gap1 A G 1: 127,919,561 probably benign Het
Scrib G A 15: 76,048,255 P1524S probably damaging Het
Smpdl3a T A 10: 57,807,515 N240K probably benign Het
Smyd4 A T 11: 75,390,285 K195* probably null Het
Tulp3 A T 6: 128,327,598 M231K possibly damaging Het
Zfp87 A G 13: 67,520,620 probably benign Het
Other mutations in Sbk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Sbk1 APN 7 126292012 splice site probably null
R0826:Sbk1 UTSW 7 126291835 missense probably damaging 1.00
R1473:Sbk1 UTSW 7 126292252 missense possibly damaging 0.73
R3715:Sbk1 UTSW 7 126290011 missense probably benign 0.00
R4649:Sbk1 UTSW 7 126291129 missense probably damaging 1.00
R5600:Sbk1 UTSW 7 126292243 missense probably damaging 1.00
R6477:Sbk1 UTSW 7 126291178 missense probably damaging 0.98
R7904:Sbk1 UTSW 7 126292036 missense probably damaging 1.00
R8164:Sbk1 UTSW 7 126292539 missense possibly damaging 0.96
Posted On2015-04-16