Incidental Mutation 'IGL02252:Snrk'
ID 286461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrk
Ensembl Gene ENSMUSG00000038145
Gene Name SNF related kinase
Synonyms SNRK, 2010012F07Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.733) question?
Stock # IGL02252
Quality Score
Status
Chromosome 9
Chromosomal Location 121946332-121998768 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121986326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 232 (Y232H)
Ref Sequence ENSEMBL: ENSMUSP00000119878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118886] [ENSMUST00000119215] [ENSMUST00000120173] [ENSMUST00000134949]
AlphaFold Q8VDU5
Predicted Effect probably damaging
Transcript: ENSMUST00000118886
AA Change: Y232H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114132
Gene: ENSMUSG00000038145
AA Change: Y232H

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

DomainStartEndE-ValueType
S_TKc 16 219 8.7e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120173
AA Change: Y232H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112919
Gene: ENSMUSG00000038145
AA Change: Y232H

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 damaging
Transcript: ENSMUST00000134949
AA Change: Y232H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119878
Gene: ENSMUSG00000038145
AA Change: Y232H

DomainStartEndE-ValueType
S_TKc 16 269 6.85e-104 SMART
Blast:S_TKc 361 409 1e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217631
Coding Region Coverage
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,444,678 (GRCm39) probably benign Het
Actl7b A T 4: 56,741,205 (GRCm39) I51N probably damaging Het
Adamts12 A G 15: 11,311,101 (GRCm39) I1119M probably benign Het
Apol10a T A 15: 77,372,670 (GRCm39) V102D probably benign Het
Atrx T C X: 104,889,429 (GRCm39) E1628G possibly damaging Het
Btnl2 C T 17: 34,584,364 (GRCm39) S429F possibly damaging Het
C4bp C A 1: 130,564,524 (GRCm39) D387Y probably damaging Het
Ceacam23 G T 7: 17,644,457 (GRCm39) V525F possibly damaging Het
Crybg3 G T 16: 59,372,887 (GRCm39) probably benign Het
Dcaf12 G T 4: 41,294,085 (GRCm39) H351N probably benign Het
Efcab3 C A 11: 104,644,753 (GRCm39) R1114S possibly damaging Het
Elp1 G T 4: 56,759,813 (GRCm39) Q1151K probably benign Het
Fign A G 2: 63,810,983 (GRCm39) S96P probably benign Het
Ggt5 A G 10: 75,438,566 (GRCm39) I96V possibly damaging Het
Gm3238 A G 10: 77,606,691 (GRCm39) probably benign Het
Gm4792 G T 10: 94,131,102 (GRCm39) P69Q unknown Het
Ighv1-58 A T 12: 115,275,897 (GRCm39) N80K possibly damaging Het
Irgm1 C T 11: 48,756,981 (GRCm39) G277S possibly damaging Het
Jsrp1 A G 10: 80,644,707 (GRCm39) V233A probably benign Het
Kcp T A 6: 29,504,548 (GRCm39) R85W probably damaging Het
Kif14 T C 1: 136,406,130 (GRCm39) Y565H probably damaging Het
Klk1b4 G A 7: 43,860,094 (GRCm39) W69* probably null Het
Knl1 A T 2: 118,903,021 (GRCm39) Q1574L probably damaging Het
Lao1 A G 4: 118,824,613 (GRCm39) N232D probably benign Het
Lipn A G 19: 34,049,157 (GRCm39) I108V probably benign Het
Lrrc49 T A 9: 60,595,142 (GRCm39) M1L probably benign Het
Matn2 G T 15: 34,316,736 (GRCm39) R26L probably damaging Het
Mmp16 G A 4: 18,110,523 (GRCm39) D440N probably damaging Het
Mn1 G A 5: 111,569,107 (GRCm39) A1026T probably damaging Het
Mrgpra1 A T 7: 46,984,912 (GRCm39) F256I probably benign Het
Msantd3 A C 4: 48,560,869 (GRCm39) E148D probably benign Het
Mylk3 G T 8: 86,082,105 (GRCm39) L361I probably benign Het
Nlrp12 A G 7: 3,293,980 (GRCm39) S117P probably benign Het
Nsmaf T C 4: 6,398,378 (GRCm39) E870G probably benign Het
Oplah T C 15: 76,188,964 (GRCm39) T320A probably damaging Het
Or5p50 C A 7: 107,422,353 (GRCm39) A108S probably benign Het
Or7g34 T A 9: 19,478,267 (GRCm39) I138F probably damaging Het
Pard3 T G 8: 128,125,237 (GRCm39) S729A probably benign Het
Pdzd9 T C 7: 120,262,238 (GRCm39) I75V probably benign Het
Pgf A G 12: 85,216,199 (GRCm39) probably benign Het
Phf1 T A 17: 27,154,109 (GRCm39) V140D possibly damaging Het
Pkd1l3 T C 8: 110,357,708 (GRCm39) S775P possibly damaging Het
Rhobtb1 A T 10: 69,085,515 (GRCm39) T85S probably damaging Het
Sez6 T A 11: 77,865,339 (GRCm39) Y659N probably damaging Het
Sfmbt1 T C 14: 30,539,690 (GRCm39) L826P probably damaging Het
Sftpd T A 14: 40,894,471 (GRCm39) D316V probably damaging Het
Shc2 T C 10: 79,462,204 (GRCm39) D313G probably benign Het
Sntg1 G T 1: 8,484,452 (GRCm39) P456Q probably benign Het
Sorbs1 A T 19: 40,302,841 (GRCm39) N783K probably damaging Het
Stag3 A T 5: 138,300,810 (GRCm39) I923F probably damaging Het
Tep1 T A 14: 51,067,712 (GRCm39) H2168L possibly damaging Het
Tmem132c A T 5: 127,539,991 (GRCm39) N339I possibly damaging Het
Trim34b A G 7: 103,979,139 (GRCm39) T129A probably damaging Het
Ttc21a T C 9: 119,785,994 (GRCm39) L664P probably damaging Het
Ubl5 C T 9: 20,556,923 (GRCm39) R56* probably null Het
Ubox5 G A 2: 130,441,707 (GRCm39) R327W probably damaging Het
Ubr5 G T 15: 38,025,138 (GRCm39) A546E probably damaging Het
Umodl1 T C 17: 31,213,789 (GRCm39) probably null Het
Unc45a T C 7: 79,982,717 (GRCm39) probably benign Het
Vmn1r236 C T 17: 21,507,101 (GRCm39) T73I probably benign Het
Vmn2r67 T G 7: 84,805,008 (GRCm39) N35H probably benign Het
Vmn2r74 A G 7: 85,606,531 (GRCm39) Y272H probably benign Het
Wdr43 T A 17: 71,933,845 (GRCm39) D147E probably damaging Het
Zfp352 A T 4: 90,112,367 (GRCm39) D169V probably benign Het
Zim1 A T 7: 6,691,627 (GRCm39) N15K unknown Het
Other mutations in Snrk
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9627:Snrk UTSW 9 121,966,427 (GRCm39) nonsense probably null
R9695:Snrk UTSW 9 121,995,640 (GRCm39) missense probably benign 0.43
Posted On 2015-04-16