Incidental Mutation 'R6828:Snrk'
ID 534263
Institutional Source Beutler Lab
Gene Symbol Snrk
Ensembl Gene ENSMUSG00000038145
Gene Name SNF related kinase
Synonyms SNRK, 2010012F07Rik
MMRRC Submission 045020-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.768) question?
Stock # R6828 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 121946332-121998768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121966632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 185 (I185T)
Ref Sequence ENSEMBL: ENSMUSP00000119878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118886] [ENSMUST00000119215] [ENSMUST00000120173] [ENSMUST00000134949] [ENSMUST00000139181] [ENSMUST00000146832]
AlphaFold Q8VDU5
Predicted Effect probably damaging
Transcript: ENSMUST00000118886
AA Change: I185T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114132
Gene: ENSMUSG00000038145
AA Change: I185T

DomainStartEndE-ValueType
S_TKc 16 269 6.85e-104 SMART
Blast:S_TKc 361 671 6e-91 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000119215
AA Change: I185T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113906
Gene: ENSMUSG00000038145
AA Change: I185T

DomainStartEndE-ValueType
S_TKc 16 219 8.7e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120173
AA Change: I185T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112919
Gene: ENSMUSG00000038145
AA Change: I185T

DomainStartEndE-ValueType
S_TKc 16 269 6.85e-104 SMART
Blast:S_TKc 361 671 6e-91 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000134949
AA Change: I185T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119878
Gene: ENSMUSG00000038145
AA Change: I185T

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: 99.4%
  • 20x: 98.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,545,389 (GRCm39) M349K possibly damaging Het
Akap12 A G 10: 4,304,606 (GRCm39) E472G probably damaging Het
Ap2s1 T C 7: 16,482,626 (GRCm39) Y94H probably damaging Het
Apeh A G 9: 107,964,237 (GRCm39) F530L probably damaging Het
Aplnr G A 2: 84,970,103 (GRCm39) probably benign Het
Arid3b A G 9: 57,717,446 (GRCm39) probably null Het
Ash1l A C 3: 88,983,420 (GRCm39) D2874A probably benign Het
Aurka T A 2: 172,199,172 (GRCm39) R277S probably damaging Het
Calhm4 A G 10: 33,919,953 (GRCm39) F105L possibly damaging Het
Ccar1 C A 10: 62,600,209 (GRCm39) W574L probably damaging Het
Cd8b1 T C 6: 71,311,100 (GRCm39) F207L probably benign Het
Clec14a T C 12: 58,315,290 (GRCm39) R111G probably damaging Het
Clk3 G A 9: 57,668,132 (GRCm39) T263I possibly damaging Het
Col11a2 A G 17: 34,272,607 (GRCm39) probably null Het
Col5a3 C T 9: 20,709,748 (GRCm39) G604D unknown Het
Cracdl T C 1: 37,663,898 (GRCm39) T667A possibly damaging Het
Crb2 ACTGCTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 2: 37,666,421 (GRCm39) probably benign Het
Ctps1 A T 4: 120,405,335 (GRCm39) V369D probably damaging Het
Dennd5b A G 6: 148,895,244 (GRCm39) I1262T probably damaging Het
Dmxl1 C T 18: 50,054,091 (GRCm39) P2566S probably damaging Het
Fam170b A G 14: 32,557,915 (GRCm39) D250G probably damaging Het
Foxs1 G A 2: 152,775,048 (GRCm39) Q2* probably null Het
Frmpd1 T C 4: 45,275,383 (GRCm39) V512A probably damaging Het
Fry G A 5: 150,389,911 (GRCm39) probably null Het
Gria1 A G 11: 57,180,288 (GRCm39) Y677C probably damaging Het
Igdcc4 T C 9: 65,029,979 (GRCm39) I343T probably benign Het
Igkv1-132 T C 6: 67,736,697 (GRCm39) V5A probably benign Het
Ikzf5 A T 7: 130,993,401 (GRCm39) C256S probably damaging Het
Itk G A 11: 46,232,045 (GRCm39) H297Y probably damaging Het
Lamb3 A G 1: 193,017,756 (GRCm39) E879G probably benign Het
Lpin2 T C 17: 71,529,123 (GRCm39) V127A probably damaging Het
Man2b1 C A 8: 85,813,548 (GRCm39) P247T possibly damaging Het
Meak7 G A 8: 120,499,306 (GRCm39) T62I possibly damaging Het
Mxd3 T C 13: 55,473,967 (GRCm39) K122E probably benign Het
Npr1 C A 3: 90,372,120 (GRCm39) V231L probably benign Het
Nsd2 C T 5: 34,050,912 (GRCm39) A1263V probably damaging Het
Olfm4 A G 14: 80,258,973 (GRCm39) D374G probably damaging Het
Optc A T 1: 133,825,605 (GRCm39) I307N probably damaging Het
Or5p80 A C 7: 108,229,500 (GRCm39) Q100H possibly damaging Het
Or6c3b A T 10: 129,527,863 (GRCm39) S16T probably damaging Het
Pecr C A 1: 72,306,616 (GRCm39) E222* probably null Het
Pibf1 A G 14: 99,423,987 (GRCm39) N520S probably benign Het
Rhoj A G 12: 75,355,653 (GRCm39) N19S probably benign Het
Rock2 G A 12: 16,992,960 (GRCm39) probably null Het
Rpa1 G A 11: 75,205,697 (GRCm39) T220I probably damaging Het
Sdf2l1 C G 16: 16,950,158 (GRCm39) R6P probably benign Het
Sipa1l3 G A 7: 29,038,457 (GRCm39) H397Y probably benign Het
Srrt A T 5: 137,295,230 (GRCm39) V300E probably damaging Het
Taok2 A T 7: 126,471,047 (GRCm39) probably null Het
Tmem131 T C 1: 36,843,724 (GRCm39) K1379R possibly damaging Het
Usp15 T C 10: 122,963,894 (GRCm39) I543V probably damaging Het
Zfp553 A G 7: 126,835,447 (GRCm39) E334G probably damaging Het
Zim1 T C 7: 6,680,688 (GRCm39) Y325C probably damaging 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
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
R9627:Snrk UTSW 9 121,966,427 (GRCm39) nonsense probably null
R9695:Snrk UTSW 9 121,995,640 (GRCm39) missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- ACTTGGCCAAGAAGTACTTTGCTC -3'
(R):5'- TCTGCCAGCTTAGGAACACAC -3'

Sequencing Primer
(F):5'- GCCAAGAAGTACTTTGCTCAGATAG -3'
(R):5'- GCTTAGGAACACACAGTATTCATGAG -3'
Posted On 2018-09-12