Incidental Mutation 'R9627:Snrk'
ID 725226
Institutional Source Beutler Lab
Gene Symbol Snrk
Ensembl Gene ENSMUSG00000038145
Gene Name SNF related kinase
Synonyms SNRK, 2010012F07Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.733) question?
Stock # R9627 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 121946332-121998768 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 121966427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 117 (K117*)
Ref Sequence ENSEMBL: ENSMUSP00000114132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118886] [ENSMUST00000119215] [ENSMUST00000120173] [ENSMUST00000134949] [ENSMUST00000139181] [ENSMUST00000146832]
AlphaFold Q8VDU5
Predicted Effect probably null
Transcript: ENSMUST00000118886
AA Change: K117*
SMART Domains Protein: ENSMUSP00000114132
Gene: ENSMUSG00000038145
AA Change: K117*

DomainStartEndE-ValueType
S_TKc 16 269 6.85e-104 SMART
Blast:S_TKc 361 671 6e-91 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000119215
AA Change: K117*
SMART Domains Protein: ENSMUSP00000113906
Gene: ENSMUSG00000038145
AA Change: K117*

DomainStartEndE-ValueType
S_TKc 16 219 8.7e-11 SMART
Predicted Effect probably null
Transcript: ENSMUST00000120173
AA Change: K117*
SMART Domains Protein: ENSMUSP00000112919
Gene: ENSMUSG00000038145
AA Change: K117*

DomainStartEndE-ValueType
S_TKc 16 269 6.85e-104 SMART
Blast:S_TKc 361 671 6e-91 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000134949
AA Change: K117*
SMART Domains Protein: ENSMUSP00000119878
Gene: ENSMUSG00000038145
AA Change: K117*

DomainStartEndE-ValueType
S_TKc 16 269 6.85e-104 SMART
Blast:S_TKc 361 409 1e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000139181
SMART Domains Protein: ENSMUSP00000120582
Gene: ENSMUSG00000038145

DomainStartEndE-ValueType
Pfam:Pkinase 16 90 5.4e-15 PFAM
Pfam:Pkinase_Tyr 16 90 5.6e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146832
SMART Domains Protein: ENSMUSP00000117994
Gene: ENSMUSG00000038145

DomainStartEndE-ValueType
Pfam:Pkinase 16 54 1e-5 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality with enlarged left ventricle and altered lipid levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,487,834 (GRCm39) probably benign Het
Abca14 T C 7: 119,854,530 (GRCm39) V898A probably benign Het
Adamtsl1 A T 4: 86,306,762 (GRCm39) D1400V possibly damaging Het
Akap6 T A 12: 53,151,413 (GRCm39) M1159K Het
Atg13 C A 2: 91,509,098 (GRCm39) G446* probably null Het
Atp6v1g2 G T 17: 35,454,956 (GRCm39) probably null Het
Bmp2k C T 5: 97,201,028 (GRCm39) A316V possibly damaging Het
Ccdc34 AAGA AA 2: 109,871,010 (GRCm39) probably null Het
Cfap251 A G 5: 123,460,557 (GRCm39) D1173G probably benign Het
Cln6 T A 9: 62,754,303 (GRCm39) I115N probably damaging Het
Cma1 T C 14: 56,181,289 (GRCm39) T39A probably benign Het
Cpsf1 A T 15: 76,484,088 (GRCm39) M744K probably damaging Het
Csf1r A G 18: 61,260,972 (GRCm39) Y721C probably damaging Het
Dcaf12 A G 4: 41,293,976 (GRCm39) L387P probably benign Het
Ephb1 T C 9: 101,918,468 (GRCm39) E347G possibly damaging Het
Fig4 T A 10: 41,108,178 (GRCm39) H674L probably benign Het
Foxa3 T A 7: 18,748,458 (GRCm39) K223* probably null Het
Gimap7 T C 6: 48,700,600 (GRCm39) V62A probably damaging Het
Glrx3 T A 7: 137,046,755 (GRCm39) V49E probably benign Het
Greb1 T C 12: 16,756,167 (GRCm39) Y823C probably damaging Het
H3c7 G T 13: 23,728,793 (GRCm39) V47L possibly damaging Het
Hapln4 C A 8: 70,539,520 (GRCm39) R184S possibly damaging Het
Hmcn1 C T 1: 150,506,054 (GRCm39) C3824Y probably damaging Het
Hrnr T C 3: 93,233,235 (GRCm39) S1158P unknown Het
Itln1 A G 1: 171,360,985 (GRCm39) S36P probably benign Het
Kcnh5 A C 12: 75,160,990 (GRCm39) I306S probably damaging Het
Kctd19 T A 8: 106,113,997 (GRCm39) M559L probably benign Het
Kif2a A G 13: 107,158,558 (GRCm39) I9T possibly damaging Het
Klra5 G A 6: 129,883,701 (GRCm39) T142I probably benign Het
Ldlrad3 A G 2: 101,785,423 (GRCm39) V184A probably damaging Het
Lrrc27 T C 7: 138,808,582 (GRCm39) probably benign Het
Mark1 A G 1: 184,646,817 (GRCm39) V340A probably benign Het
Mrps31 T C 8: 22,901,558 (GRCm39) V26A probably benign Het
Mtrr G A 13: 68,725,756 (GRCm39) L118F probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nbas G T 12: 13,350,203 (GRCm39) V285F possibly damaging Het
Nfrkb T C 9: 31,321,189 (GRCm39) L675P possibly damaging Het
Or10v9 T A 19: 11,832,910 (GRCm39) I136F possibly damaging Het
Or1q1 T A 2: 36,887,665 (GRCm39) V281E Het
Or5k15 T A 16: 58,709,771 (GRCm39) I271L probably benign Het
Phkg1 C T 5: 129,893,376 (GRCm39) W358* probably null Het
Plekhj1 A C 10: 80,633,494 (GRCm39) I51S possibly damaging Het
Plxnd1 C T 6: 115,940,274 (GRCm39) R1370Q possibly damaging Het
Prkg2 T C 5: 99,079,869 (GRCm39) *763W probably null Het
Rhobtb2 A G 14: 70,034,349 (GRCm39) F292S probably damaging Het
Rlf A T 4: 121,007,002 (GRCm39) C769* probably null Het
Rmi1 C A 13: 58,557,366 (GRCm39) D538E possibly damaging Het
Scn4a C T 11: 106,212,839 (GRCm39) V1389I probably benign Het
Serpinc1 A T 1: 160,821,101 (GRCm39) K183* probably null Het
Setd4 A T 16: 93,380,562 (GRCm39) M399K possibly damaging Het
Setx T C 2: 29,034,661 (GRCm39) M382T probably damaging Het
Slc6a9 A G 4: 117,721,210 (GRCm39) Y208C probably damaging Het
Slfn2 A T 11: 82,960,367 (GRCm39) K115N Het
Spata31 A G 13: 65,065,409 (GRCm39) Y38C possibly damaging Het
Stab2 T C 10: 86,793,704 (GRCm39) T464A probably damaging Het
Tagap1 C T 17: 7,224,327 (GRCm39) G123D probably benign Het
Tas2r136 T C 6: 132,754,948 (GRCm39) K60E possibly damaging Het
Tasor T C 14: 27,194,123 (GRCm39) S1108P probably benign Het
Tmem200b A C 4: 131,649,437 (GRCm39) Y119S probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Wwp2 T G 8: 108,278,959 (GRCm39) L578W probably damaging Het
Zfp53 T A 17: 21,728,745 (GRCm39) C259* probably null Het
Other mutations in Snrk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02252:Snrk APN 9 121,986,326 (GRCm39) missense probably damaging 1.00
saadat UTSW 9 121,995,610 (GRCm39) missense possibly damaging 0.95
R0017:Snrk UTSW 9 121,995,306 (GRCm39) missense probably damaging 1.00
R0564:Snrk UTSW 9 121,995,610 (GRCm39) missense possibly damaging 0.95
R1282:Snrk UTSW 9 121,989,586 (GRCm39) missense possibly damaging 0.77
R3835:Snrk UTSW 9 121,966,069 (GRCm39) start gained probably benign
R5116:Snrk UTSW 9 121,989,396 (GRCm39) missense probably benign 0.01
R5722:Snrk UTSW 9 121,993,072 (GRCm39) missense probably benign 0.00
R5995:Snrk UTSW 9 121,986,288 (GRCm39) missense probably damaging 1.00
R6437:Snrk UTSW 9 121,995,879 (GRCm39) missense probably damaging 0.99
R6828:Snrk UTSW 9 121,966,632 (GRCm39) missense probably damaging 1.00
R7432:Snrk UTSW 9 121,986,276 (GRCm39) missense probably damaging 1.00
R7476:Snrk UTSW 9 121,986,288 (GRCm39) missense probably damaging 1.00
R8284:Snrk UTSW 9 121,989,538 (GRCm39) missense probably damaging 1.00
R8779:Snrk UTSW 9 121,995,688 (GRCm39) missense probably damaging 0.99
R8941:Snrk UTSW 9 121,989,597 (GRCm39) missense probably benign 0.00
R9385:Snrk UTSW 9 121,995,463 (GRCm39) missense probably benign 0.27
R9426:Snrk UTSW 9 121,986,326 (GRCm39) missense probably damaging 1.00
R9695:Snrk UTSW 9 121,995,640 (GRCm39) missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- CTCTTCCAGGAAGTGAGGTG -3'
(R):5'- GCATCGTACTCATCGCCAAG -3'

Sequencing Primer
(F):5'- GTGCATGAAACTAGTGCAGCACC -3'
(R):5'- ATCGCCAAGCAGGATTTCTG -3'
Posted On 2022-09-12