Incidental Mutation 'R5722:Snrk'
ID452276
Institutional Source Beutler Lab
Gene Symbol Snrk
Ensembl Gene ENSMUSG00000038145
Gene NameSNF related kinase
Synonyms2010012F07Rik, SNRK
MMRRC Submission 043340-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.698) question?
Stock #R5722 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location122117266-122169702 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122164006 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 345 (I345T)
Ref Sequence ENSEMBL: ENSMUSP00000112919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118886] [ENSMUST00000120173] [ENSMUST00000134949]
Predicted Effect probably benign
Transcript: ENSMUST00000118886
AA Change: I345T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114132
Gene: ENSMUSG00000038145
AA Change: I345T

DomainStartEndE-ValueType
S_TKc 16 269 6.85e-104 SMART
Blast:S_TKc 361 671 6e-91 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000120173
AA Change: I345T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112919
Gene: ENSMUSG00000038145
AA Change: I345T

DomainStartEndE-ValueType
S_TKc 16 269 6.85e-104 SMART
Blast:S_TKc 361 671 6e-91 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131169
Predicted Effect probably benign
Transcript: ENSMUST00000134949
AA Change: I345T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119878
Gene: ENSMUSG00000038145
AA Change: I345T

DomainStartEndE-ValueType
S_TKc 16 269 6.85e-104 SMART
Blast:S_TKc 361 409 1e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217631
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T A 2: 111,204,123 T355S probably benign Het
4930432K21Rik A G 8: 84,171,844 E537G probably damaging Het
Actl6a G A 3: 32,718,045 R164H probably damaging Het
Afg3l2 A G 18: 67,440,199 Y178H probably benign Het
Agtr1a A G 13: 30,382,033 *360W probably null Het
Arfgef1 A G 1: 10,138,884 V1830A probably benign Het
Asic2 A T 11: 81,967,980 S69T probably benign Het
Axin1 A T 17: 26,182,557 N368Y probably damaging Het
Ces1d G A 8: 93,178,128 P328L probably benign Het
Cndp2 T A 18: 84,668,078 K461* probably null Het
Cntnap5c A T 17: 58,313,857 H977L probably benign Het
Fkbpl G A 17: 34,645,329 A24T probably benign Het
Glg1 T C 8: 111,169,562 T177A possibly damaging Het
Gm7168 T C 17: 13,949,562 V397A probably benign Het
Hif1a T A 12: 73,941,759 D535E probably benign Het
Hjurp GT GTT 1: 88,266,524 probably null Het
Ice1 T C 13: 70,615,100 E173G possibly damaging Het
Ighmbp2 A G 19: 3,279,909 V115A probably damaging Het
Irf2 A T 8: 46,818,796 E101D possibly damaging Het
Kat8 G A 7: 127,924,816 E343K probably damaging Het
Kyat1 C T 2: 30,188,111 C127Y probably damaging Het
Mrgpra4 T C 7: 47,981,007 H282R probably benign Het
Npsr1 C A 9: 24,313,800 P368Q probably damaging Het
Nwd1 G A 8: 72,675,244 V839M probably damaging Het
Olfr430 G T 1: 174,069,870 D191Y probably damaging Het
Olfr644 T A 7: 104,068,723 M103L probably damaging Het
P4ha3 A G 7: 100,305,991 D351G probably benign Het
Pard3b T A 1: 62,440,001 probably null Het
Pik3c2b G T 1: 133,103,836 G1505W probably damaging Het
Plppr5 A T 3: 117,621,065 I112L probably benign Het
Ptprq A G 10: 107,686,365 I575T possibly damaging Het
Ranbp3l A G 15: 9,000,832 E46G probably damaging Het
Rbm46 A G 3: 82,865,333 V164A possibly damaging Het
Sap25 A G 5: 137,641,451 E13G probably benign Het
Setbp1 A T 18: 78,856,645 V1269E possibly damaging Het
Smgc T A 15: 91,841,906 S18R possibly damaging Het
Sp4 T A 12: 118,299,241 I357F possibly damaging Het
Sra1 A G 18: 36,674,978 L399P probably damaging Het
Stat6 A G 10: 127,658,373 T658A probably benign Het
Sv2a G A 3: 96,185,023 R13H probably benign Het
Thoc3 G T 13: 54,460,201 T310N probably damaging Het
Tmem8 CGGGG CGGGGG 17: 26,120,562 probably null Het
Tox3 A C 8: 90,347,861 probably null Het
Trpc6 A G 9: 8,680,549 E848G possibly damaging Het
Ttn T A 2: 76,708,246 T34703S possibly damaging Het
Ttn T C 2: 76,945,968 I1577V probably damaging Het
Ubqln3 G A 7: 104,141,467 P472L probably benign Het
Ugt2b36 C T 5: 87,092,438 W29* probably null Het
Wdr17 C T 8: 54,660,771 probably null Het
Zfp790 C A 7: 29,830,089 S733* probably null Het
Other mutations in Snrk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02252:Snrk APN 9 122157260 missense probably damaging 1.00
saadat UTSW 9 122166544 missense possibly damaging 0.95
R0017:Snrk UTSW 9 122166240 missense probably damaging 1.00
R0564:Snrk UTSW 9 122166544 missense possibly damaging 0.95
R1282:Snrk UTSW 9 122160520 missense possibly damaging 0.77
R3835:Snrk UTSW 9 122137003 start gained probably benign
R5116:Snrk UTSW 9 122160330 missense probably benign 0.01
R5995:Snrk UTSW 9 122157222 missense probably damaging 1.00
R6437:Snrk UTSW 9 122166813 missense probably damaging 0.99
R6828:Snrk UTSW 9 122137566 missense probably damaging 1.00
R7432:Snrk UTSW 9 122157210 missense probably damaging 1.00
R7476:Snrk UTSW 9 122157222 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTTAAAAGCTTCCCAGATACCGG -3'
(R):5'- TACCACGTATAGCAGAGAAGC -3'

Sequencing Primer
(F):5'- CCAGATACCGGATTTCATTAGGC -3'
(R):5'- CTGTAACCTCTGTGGAAAGCAGC -3'
Posted On2017-01-03