Incidental Mutation 'IGL02372:Sbk1'
ID 290974
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sbk1
Ensembl Gene ENSMUSG00000042978
Gene Name SH3-binding kinase 1
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.309) question?
Stock # IGL02372
Quality Score
Status
Chromosome 7
Chromosomal Location 125848034-125894188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125890230 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8QZX0
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
Alyref A G 11: 120,485,701 (GRCm39) probably benign Het
Ankrd27 A G 7: 35,332,461 (GRCm39) probably null Het
Arc A G 15: 74,543,954 (GRCm39) S90P probably damaging Het
Atp6v1e1 T A 6: 120,778,084 (GRCm39) K150N probably benign Het
Atrn T C 2: 130,844,674 (GRCm39) probably benign Het
Ccnb1 A G 13: 100,917,824 (GRCm39) Y259H probably damaging Het
Celsr1 A G 15: 85,814,108 (GRCm39) V1938A probably benign Het
Ckmt2 A G 13: 92,013,343 (GRCm39) V37A probably benign Het
Dpys G T 15: 39,656,667 (GRCm39) P467T probably benign Het
Ehbp1l1 T C 19: 5,760,862 (GRCm39) T1535A possibly damaging Het
Eif4enif1 T C 11: 3,179,986 (GRCm39) L302P probably benign Het
Faf1 T G 4: 109,792,779 (GRCm39) F584V probably benign Het
Glb1l2 G A 9: 26,707,772 (GRCm39) R72C probably damaging Het
Gm9892 T C 8: 52,649,871 (GRCm39) noncoding transcript Het
Hecw1 G T 13: 14,438,706 (GRCm39) D892E probably damaging Het
Hr A G 14: 70,795,790 (GRCm39) E474G possibly damaging Het
Ltbp1 T G 17: 75,559,401 (GRCm39) F297V probably damaging Het
Myc A G 15: 61,859,707 (GRCm39) N127D probably damaging Het
Nbn T A 4: 15,986,613 (GRCm39) N671K probably benign Het
Nup210l C A 3: 90,109,278 (GRCm39) T1607N possibly damaging Het
Or8s8 A T 15: 98,354,709 (GRCm39) T173S probably damaging Het
Osbpl1a T A 18: 12,974,370 (GRCm39) K22* probably null Het
Phf20l1 T C 15: 66,513,650 (GRCm39) L942P probably damaging Het
Plekhg5 C T 4: 152,186,537 (GRCm39) R40W probably damaging Het
Pomt2 C T 12: 87,169,609 (GRCm39) probably benign Het
Rab3gap1 A G 1: 127,847,298 (GRCm39) probably benign Het
Scrib G A 15: 75,920,104 (GRCm39) P1524S probably damaging Het
Smpdl3a T A 10: 57,683,611 (GRCm39) N240K probably benign Het
Smyd4 A T 11: 75,281,111 (GRCm39) K195* probably null Het
Spmap1 A T 11: 97,666,525 (GRCm39) Y54N probably damaging Het
Tulp3 A T 6: 128,304,561 (GRCm39) M231K possibly damaging Het
Zfp87 A G 13: 67,668,739 (GRCm39) probably benign Het
Other mutations in Sbk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Sbk1 APN 7 125,891,184 (GRCm39) splice site probably null
R0826:Sbk1 UTSW 7 125,891,007 (GRCm39) missense probably damaging 1.00
R1473:Sbk1 UTSW 7 125,891,424 (GRCm39) missense possibly damaging 0.73
R3715:Sbk1 UTSW 7 125,889,183 (GRCm39) missense probably benign 0.00
R4649:Sbk1 UTSW 7 125,890,301 (GRCm39) missense probably damaging 1.00
R5600:Sbk1 UTSW 7 125,891,415 (GRCm39) missense probably damaging 1.00
R6477:Sbk1 UTSW 7 125,890,350 (GRCm39) missense probably damaging 0.98
R7904:Sbk1 UTSW 7 125,891,208 (GRCm39) missense probably damaging 1.00
R8164:Sbk1 UTSW 7 125,891,711 (GRCm39) missense possibly damaging 0.96
Posted On 2015-04-16