Incidental Mutation 'R5600:Sbk1'
ID 438990
Institutional Source Beutler Lab
Gene Symbol Sbk1
Ensembl Gene ENSMUSG00000042978
Gene Name SH3-binding kinase 1
Synonyms
MMRRC Submission 043152-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.309) question?
Stock # R5600 (G1)
Quality Score 115
Status Not validated
Chromosome 7
Chromosomal Location 125848034-125894188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 125891415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 283 (R283H)
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: R283H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060907
Gene: ENSMUSG00000042978
AA Change: R283H

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
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol11b A C 15: 77,519,288 (GRCm39) M264R probably damaging Het
Asprv1 G T 6: 86,606,044 (GRCm39) E297* probably null Het
Atp6v1c1 T C 15: 38,687,107 (GRCm39) V234A probably benign Het
Ccp110 G A 7: 118,328,948 (GRCm39) probably null Het
Cfap251 T C 5: 123,426,761 (GRCm39) V383A possibly damaging Het
Fgfrl1 T C 5: 108,853,168 (GRCm39) C173R probably damaging Het
Gm5431 G A 11: 48,785,583 (GRCm39) T264M possibly damaging Het
Golga1 T C 2: 38,910,111 (GRCm39) E637G probably damaging Het
Gpr158 A G 2: 21,832,046 (GRCm39) T1049A probably benign Het
Hcn4 T A 9: 58,766,576 (GRCm39) probably null Het
Krt86 G A 15: 101,374,386 (GRCm39) V260I probably benign Het
Ktn1 A T 14: 47,927,490 (GRCm39) Q548L probably damaging Het
Lingo4 A T 3: 94,309,220 (GRCm39) I53F probably benign Het
Lrrk1 A C 7: 65,956,963 (GRCm39) I336S probably benign Het
Magel2 G T 7: 62,029,514 (GRCm39) G806V unknown Het
Mrc2 T A 11: 105,224,492 (GRCm39) S501T probably damaging Het
Mrps18a T A 17: 46,436,575 (GRCm39) L128* probably null Het
Mtor G T 4: 148,575,927 (GRCm39) L1360F probably damaging Het
Mtpap A G 18: 4,379,674 (GRCm39) E88G probably damaging Het
Myo5c A G 9: 75,196,436 (GRCm39) K1294R probably benign Het
Or10al2 G A 17: 37,983,176 (GRCm39) M87I possibly damaging Het
Pik3c3 G A 18: 30,444,346 (GRCm39) V520M probably damaging Het
Pptc7 T A 5: 122,458,918 (GRCm39) V305E probably damaging Het
Ptgfrn T C 3: 100,963,566 (GRCm39) D682G probably damaging Het
Rfx6 A T 10: 51,599,157 (GRCm39) Q538L probably damaging Het
Sfswap T C 5: 129,590,222 (GRCm39) F240L probably damaging Het
Siglec1 T A 2: 130,927,503 (GRCm39) H101L probably benign Het
Smg1 A G 7: 117,767,107 (GRCm39) probably benign Het
Spink5 A G 18: 44,151,778 (GRCm39) T986A probably damaging Het
Stat1 T A 1: 52,188,101 (GRCm39) S496T probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tenm2 C T 11: 36,054,541 (GRCm39) probably null Het
Tiam1 G T 16: 89,662,253 (GRCm39) R622S probably damaging Het
Vmn2r109 C A 17: 20,761,189 (GRCm39) D723Y probably damaging Het
Vmn2r70 G T 7: 85,212,935 (GRCm39) Q491K probably benign Het
Wnk1 A C 6: 119,926,319 (GRCm39) S1297R probably damaging Het
Zan C T 5: 137,385,233 (GRCm39) V5067I unknown Het
Zfp108 A G 7: 23,960,011 (GRCm39) S201G probably benign Het
Other mutations in Sbk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Sbk1 APN 7 125,891,184 (GRCm39) splice site probably null
IGL02372:Sbk1 APN 7 125,890,230 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGCACTATACCGTACACAGC -3'
(R):5'- CTCAGACGCAGATCTCGATG -3'

Sequencing Primer
(F):5'- CGTACACAGCACCCGAGG -3'
(R):5'- TACTGGAACTGGCACTGGCAC -3'
Posted On 2016-10-26