Incidental Mutation 'IGL02972:Zfp597'
ID 365866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp597
Ensembl Gene ENSMUSG00000039789
Gene Name zinc finger protein 597
Synonyms 4933407K12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL02972
Quality Score
Status
Chromosome 16
Chromosomal Location 3679408-3702241 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3684387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 123 (D123G)
Ref Sequence ENSEMBL: ENSMUSP00000088009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090522]
AlphaFold E9Q6S0
Predicted Effect probably benign
Transcript: ENSMUST00000090522
AA Change: D123G

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000088009
Gene: ENSMUSG00000039789
AA Change: D123G

DomainStartEndE-ValueType
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 37,289,412 (GRCm39) I105F possibly damaging Het
Bmpr1b C T 3: 141,576,519 (GRCm39) D105N probably benign Het
Ces2e A T 8: 105,653,693 (GRCm39) S44C probably damaging Het
Chd7 T A 4: 8,855,174 (GRCm39) N2134K probably benign Het
Chst15 T C 7: 131,870,902 (GRCm39) D211G probably damaging Het
Dpp4 T C 2: 62,182,569 (GRCm39) S571G probably damaging Het
Gna11 T C 10: 81,369,225 (GRCm39) I113V probably benign Het
Grm3 T C 5: 9,562,410 (GRCm39) Y480C probably damaging Het
Mccc1 C T 3: 36,039,238 (GRCm39) V252I possibly damaging Het
Nol12 A G 15: 78,824,799 (GRCm39) T209A probably damaging Het
Or2y14 G A 11: 49,404,918 (GRCm39) G151D probably damaging Het
Or52a33 A G 7: 103,289,101 (GRCm39) M82T probably damaging Het
Or7e168 T C 9: 19,720,238 (GRCm39) F208S probably damaging Het
P3h1 C A 4: 119,105,157 (GRCm39) Q712K possibly damaging Het
Per2 T A 1: 91,351,703 (GRCm39) E934D possibly damaging Het
Pfkl T C 10: 77,824,108 (GRCm39) D760G probably benign Het
Piezo2 C A 18: 63,197,856 (GRCm39) probably benign Het
Pkd1l1 C T 11: 8,813,908 (GRCm39) R1481Q probably damaging Het
Plpp3 T C 4: 105,065,989 (GRCm39) V189A possibly damaging Het
Pnpla1 A G 17: 29,105,921 (GRCm39) E592G probably null Het
Prdm2 A T 4: 142,858,736 (GRCm39) M1518K probably benign Het
Rhbdl3 G A 11: 80,222,742 (GRCm39) probably benign Het
Rnf145 C T 11: 44,454,865 (GRCm39) S582F probably benign Het
Rsf1 A G 7: 97,310,533 (GRCm39) D421G probably benign Het
Serac1 A C 17: 6,121,039 (GRCm39) L85* probably null Het
Slc43a1 T G 2: 84,690,462 (GRCm39) V460G probably damaging Het
Slc7a6 G A 8: 106,906,059 (GRCm39) C97Y probably damaging Het
Slco5a1 A T 1: 13,060,379 (GRCm39) L114* probably null Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Taok1 A G 11: 77,450,584 (GRCm39) V396A probably benign Het
Tmem232 T A 17: 65,783,668 (GRCm39) H233L probably benign Het
Tmprss11c C T 5: 86,385,692 (GRCm39) S247N possibly damaging Het
Tnc C T 4: 63,894,715 (GRCm39) S1557N probably benign Het
Txlng A G X: 161,590,551 (GRCm39) M94T probably damaging Het
Ube2b A T 11: 51,879,509 (GRCm39) I87K probably damaging Het
Ubr5 A T 15: 38,042,196 (GRCm39) S133R probably damaging Het
Ugt1a5 C T 1: 88,094,144 (GRCm39) T124I probably benign Het
Vamp1 G T 6: 125,196,610 (GRCm39) R117L probably benign Het
Vmn1r87 G T 7: 12,866,256 (GRCm39) Y10* probably null Het
Zan G A 5: 137,461,948 (GRCm39) T1077I unknown Het
Zc2hc1b C A 10: 13,047,025 (GRCm39) V29F probably damaging Het
Other mutations in Zfp597
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02939:Zfp597 APN 16 3,683,805 (GRCm39) missense probably benign 0.27
IGL03289:Zfp597 APN 16 3,683,786 (GRCm39) missense possibly damaging 0.95
R0336:Zfp597 UTSW 16 3,684,243 (GRCm39) missense probably benign 0.15
R0621:Zfp597 UTSW 16 3,684,228 (GRCm39) missense probably benign 0.01
R4270:Zfp597 UTSW 16 3,689,954 (GRCm39) start codon destroyed probably null 1.00
R4361:Zfp597 UTSW 16 3,683,764 (GRCm39) missense probably damaging 1.00
R4774:Zfp597 UTSW 16 3,683,851 (GRCm39) missense probably benign 0.04
R5033:Zfp597 UTSW 16 3,684,502 (GRCm39) missense probably damaging 1.00
R5128:Zfp597 UTSW 16 3,689,988 (GRCm39) unclassified probably benign
R5786:Zfp597 UTSW 16 3,684,023 (GRCm39) nonsense probably null
R5940:Zfp597 UTSW 16 3,683,685 (GRCm39) missense probably damaging 0.99
R7007:Zfp597 UTSW 16 3,683,791 (GRCm39) missense probably benign 0.25
R7008:Zfp597 UTSW 16 3,683,631 (GRCm39) missense probably benign
R7392:Zfp597 UTSW 16 3,684,369 (GRCm39) missense probably benign 0.00
R7963:Zfp597 UTSW 16 3,689,022 (GRCm39) missense probably benign 0.02
R7976:Zfp597 UTSW 16 3,684,375 (GRCm39) missense possibly damaging 0.82
Z1176:Zfp597 UTSW 16 3,683,993 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18