Incidental Mutation 'IGL02252:Snrk'
ID286461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrk
Ensembl Gene ENSMUSG00000038145
Gene NameSNF related kinase
Synonyms2010012F07Rik, SNRK
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.305) question?
Stock #IGL02252
Quality Score
Status
Chromosome9
Chromosomal Location122117266-122169702 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122157260 bp
ZygosityHeterozygous
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]
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: 68,614,334 probably benign Het
Actl7b A T 4: 56,741,205 I51N probably damaging Het
Adamts12 A G 15: 11,311,015 I1119M probably benign Het
Apol10a T A 15: 77,488,470 V102D probably benign Het
Atrx T C X: 105,845,823 E1628G possibly damaging Het
Btnl2 C T 17: 34,365,390 S429F possibly damaging Het
C4bp C A 1: 130,636,787 D387Y probably damaging Het
Crybg3 G T 16: 59,552,524 probably benign Het
Dcaf12 G T 4: 41,294,085 H351N probably benign Het
Fign A G 2: 63,980,639 S96P probably benign Het
Ggt5 A G 10: 75,602,732 I96V possibly damaging Het
Gm11639 C A 11: 104,753,927 R1114S possibly damaging Het
Gm3238 A G 10: 77,770,857 probably benign Het
Gm4792 G T 10: 94,295,240 P69Q unknown Het
Gm5155 G T 7: 17,910,532 V525F possibly damaging Het
Ighv1-58 A T 12: 115,312,277 N80K possibly damaging Het
Ikbkap G T 4: 56,759,813 Q1151K probably benign Het
Irgm1 C T 11: 48,866,154 G277S possibly damaging Het
Jsrp1 A G 10: 80,808,873 V233A probably benign Het
Kcp T A 6: 29,504,549 R85W probably damaging Het
Kif14 T C 1: 136,478,392 Y565H probably damaging Het
Klk1b4 G A 7: 44,210,670 W69* probably null Het
Knl1 A T 2: 119,072,540 Q1574L probably damaging Het
Lao1 A G 4: 118,967,416 N232D probably benign Het
Lipn A G 19: 34,071,757 I108V probably benign Het
Lrrc49 T A 9: 60,687,859 M1L probably benign Het
Matn2 G T 15: 34,316,590 R26L probably damaging Het
Mmp16 G A 4: 18,110,523 D440N probably damaging Het
Mn1 G A 5: 111,421,241 A1026T probably damaging Het
Mrgpra1 A T 7: 47,335,164 F256I probably benign Het
Msantd3 A C 4: 48,560,869 E148D probably benign Het
Mylk3 G T 8: 85,355,476 L361I probably benign Het
Nlrp12 A G 7: 3,245,350 S117P probably benign Het
Nsmaf T C 4: 6,398,378 E870G probably benign Het
Olfr469 C A 7: 107,823,146 A108S probably benign Het
Olfr854 T A 9: 19,566,971 I138F probably damaging Het
Oplah T C 15: 76,304,764 T320A probably damaging Het
Pard3 T G 8: 127,398,756 S729A probably benign Het
Pdzd9 T C 7: 120,663,015 I75V probably benign Het
Pgf A G 12: 85,169,425 probably benign Het
Phf1 T A 17: 26,935,135 V140D possibly damaging Het
Pkd1l3 T C 8: 109,631,076 S775P possibly damaging Het
Rhobtb1 A T 10: 69,249,685 T85S probably damaging Het
Sez6 T A 11: 77,974,513 Y659N probably damaging Het
Sfmbt1 T C 14: 30,817,733 L826P probably damaging Het
Sftpd T A 14: 41,172,514 D316V probably damaging Het
Shc2 T C 10: 79,626,370 D313G probably benign Het
Sntg1 G T 1: 8,414,228 P456Q probably benign Het
Sorbs1 A T 19: 40,314,397 N783K probably damaging Het
Stag3 A T 5: 138,302,548 I923F probably damaging Het
Tep1 T A 14: 50,830,255 H2168L possibly damaging Het
Tmem132c A T 5: 127,462,927 N339I possibly damaging Het
Trim34b A G 7: 104,329,932 T129A probably damaging Het
Ttc21a T C 9: 119,956,928 L664P probably damaging Het
Ubl5 C T 9: 20,645,627 R56* probably null Het
Ubox5 G A 2: 130,599,787 R327W probably damaging Het
Ubr5 G T 15: 38,024,894 A546E probably damaging Het
Umodl1 T C 17: 30,994,815 probably null Het
Unc45a T C 7: 80,332,969 probably benign Het
Vmn1r236 C T 17: 21,286,839 T73I probably benign Het
Vmn2r67 T G 7: 85,155,800 N35H probably benign Het
Vmn2r74 A G 7: 85,957,323 Y272H probably benign Het
Wdr43 T A 17: 71,626,850 D147E probably damaging Het
Zfp352 A T 4: 90,224,130 D169V probably benign Het
Zim1 A T 7: 6,688,628 N15K unknown Het
Other mutations in Snrk
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5722:Snrk UTSW 9 122164006 missense probably benign 0.00
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
Posted On2015-04-16