Incidental Mutation 'IGL02939:Zfp597'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp597
Ensembl Gene ENSMUSG00000039789
Gene Namezinc finger protein 597
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #IGL02939
Quality Score
Chromosomal Location3858321-3884561 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 3865941 bp
Amino Acid Change Serine to Leucine at position 317 (S317L)
Ref Sequence ENSEMBL: ENSMUSP00000088009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090522]
Predicted Effect probably benign
Transcript: ENSMUST00000090522
AA Change: S317L

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000088009
Gene: ENSMUSG00000039789
AA Change: S317L

KRAB 14 75 2.61e-4 SMART
ZnF_C2H2 155 177 5.21e-4 SMART
ZnF_C2H2 183 205 6.88e-4 SMART
ZnF_C2H2 211 233 1.2e-3 SMART
ZnF_C2H2 239 261 2.4e-3 SMART
ZnF_C2H2 336 358 2.17e-1 SMART
ZnF_C2H2 364 386 1.33e-1 SMART
ZnF_C2H2 392 414 2.75e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119599
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181068
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple zinc finger domains. Loss of the related gene in rodents results in defects in neural development and embryonic lethality in mutant homozygotes. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and maternally expressed. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik T C 5: 9,461,478 Y947H probably damaging Het
Atp6ap1 A G X: 74,297,318 D47G probably benign Het
Atr T C 9: 95,865,261 F199L probably benign Het
Bivm C A 1: 44,142,960 H443N probably benign Het
Btnl2 A T 17: 34,361,069 H192L probably benign Het
Ccdc178 A T 18: 22,120,718 C155S probably benign Het
Celsr1 C A 15: 85,901,472 V2934L probably benign Het
Celsr3 T C 9: 108,849,453 S3294P probably damaging Het
Ddx10 T A 9: 53,204,279 E585V possibly damaging Het
Eps15l1 A T 8: 72,384,762 probably benign Het
Erlin1 G T 19: 44,063,052 T70K probably damaging Het
Ext2 A T 2: 93,704,619 probably null Het
Fam124a G A 14: 62,555,919 probably null Het
Fam53a T C 5: 33,607,759 D201G probably damaging Het
Fgf14 C T 14: 124,132,479 G136D possibly damaging Het
Gdi2 A T 13: 3,564,623 T323S probably benign Het
Gemin5 A T 11: 58,156,730 N339K probably damaging Het
Golga4 A C 9: 118,534,632 K233T probably damaging Het
Golga4 A G 9: 118,535,454 E286G probably benign Het
Gosr1 A G 11: 76,750,906 probably benign Het
Haus8 A G 8: 71,255,717 probably benign Het
Itgb3bp T C 4: 99,802,136 T49A probably null Het
Ldlrad4 A G 18: 68,254,514 D299G probably damaging Het
Lpo A G 11: 87,815,178 M273T possibly damaging Het
Map3k4 T A 17: 12,272,149 S132C probably damaging Het
Mycbp2 T G 14: 103,177,279 T2566P probably benign Het
Nalcn T C 14: 123,298,872 E1255G probably null Het
Nop56 A T 2: 130,278,197 K157N probably damaging Het
Olfr802 A T 10: 129,681,988 Y250* probably null Het
Olfr979 C T 9: 40,000,898 E110K probably benign Het
Pcdh15 A G 10: 74,504,816 probably benign Het
Pi4ka T C 16: 17,354,210 H557R probably damaging Het
Plekha4 C T 7: 45,532,363 Q64* probably null Het
Ppp2r3c G A 12: 55,298,407 probably benign Het
Rgmb C T 17: 15,807,493 M321I probably benign Het
Rnf31 T C 14: 55,595,674 S363P probably benign Het
Sap18b T A 8: 95,825,701 M113K probably benign Het
Scara3 T A 14: 65,931,656 M171L probably benign Het
Slc9a2 T G 1: 40,742,703 M364R probably damaging Het
Sorcs1 C T 19: 50,677,930 W180* probably null Het
Stat6 T A 10: 127,646,940 M10K probably benign Het
Sun1 T C 5: 139,235,488 probably benign Het
Tead2 T C 7: 45,220,434 probably benign Het
Tjp1 T G 7: 65,314,890 E844D probably damaging Het
Tmtc2 A G 10: 105,370,550 S295P probably damaging Het
Ttn G A 2: 76,782,412 R17108C probably damaging Het
Ubr1 T C 2: 120,881,183 probably null Het
Vmn2r108 T A 17: 20,471,283 H326L probably benign Het
Xdh A G 17: 73,943,845 probably null Het
Zfp385b A G 2: 77,412,059 S439P probably benign Het
Zfp638 A G 6: 83,969,232 D1081G probably damaging Het
Zfp93 C T 7: 24,275,084 H165Y possibly damaging Het
Other mutations in Zfp597
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02972:Zfp597 APN 16 3866523 missense probably benign 0.20
IGL03289:Zfp597 APN 16 3865922 missense possibly damaging 0.95
R0336:Zfp597 UTSW 16 3866379 missense probably benign 0.15
R0621:Zfp597 UTSW 16 3866364 missense probably benign 0.01
R4270:Zfp597 UTSW 16 3872090 start codon destroyed probably null 1.00
R4361:Zfp597 UTSW 16 3865900 missense probably damaging 1.00
R4774:Zfp597 UTSW 16 3865987 missense probably benign 0.04
R5033:Zfp597 UTSW 16 3866638 missense probably damaging 1.00
R5128:Zfp597 UTSW 16 3872124 unclassified probably benign
R5786:Zfp597 UTSW 16 3866159 nonsense probably null
R5940:Zfp597 UTSW 16 3865821 missense probably damaging 0.99
R7007:Zfp597 UTSW 16 3865927 missense probably benign 0.25
R7008:Zfp597 UTSW 16 3865767 missense probably benign
R7392:Zfp597 UTSW 16 3866505 missense probably benign 0.00
Z1176:Zfp597 UTSW 16 3866129 missense not run
Posted On2015-12-18