Incidental Mutation 'R0621:Zfp597'
ID 58695
Institutional Source Beutler Lab
Gene Symbol Zfp597
Ensembl Gene ENSMUSG00000039789
Gene Name zinc finger protein 597
Synonyms 4933407K12Rik
MMRRC Submission 038810-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R0621 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 3679408-3702241 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3684228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 176 (I176T)
Ref Sequence ENSEMBL: ENSMUSP00000088009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090522]
AlphaFold E9Q6S0
Predicted Effect probably benign
Transcript: ENSMUST00000090522
AA Change: I176T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000088009
Gene: ENSMUSG00000039789
AA Change: I176T

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
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T C 11: 76,399,898 (GRCm39) D33G probably damaging Het
Adgre1 T A 17: 57,748,359 (GRCm39) S520T probably damaging Het
Afg2a C T 3: 37,486,178 (GRCm39) T300I probably benign Het
Ankrd40 A G 11: 94,230,433 (GRCm39) probably null Het
Aph1b A T 9: 66,686,616 (GRCm39) I177K possibly damaging Het
Armc3 A T 2: 19,300,204 (GRCm39) N579I probably damaging Het
Atxn7l1 T C 12: 33,376,099 (GRCm39) V131A probably benign Het
C130073F10Rik A G 4: 101,747,992 (GRCm39) Y61H probably damaging Het
C1s2 A T 6: 124,608,071 (GRCm39) L214Q probably damaging Het
Caprin2 A T 6: 148,760,176 (GRCm39) S425T possibly damaging Het
Cdc42ep4 G A 11: 113,619,522 (GRCm39) R290C probably damaging Het
Cenpf T C 1: 189,404,825 (GRCm39) T352A probably benign Het
Col6a4 A T 9: 105,943,990 (GRCm39) F1161L probably damaging Het
Dctn2 T C 10: 127,113,809 (GRCm39) probably null Het
Ddx24 T C 12: 103,391,817 (GRCm39) probably benign Het
Dsg1c C A 18: 20,412,752 (GRCm39) A591D possibly damaging Het
Efnb3 T C 11: 69,446,798 (GRCm39) D304G probably damaging Het
Erbb3 T C 10: 128,422,094 (GRCm39) Y50C probably benign Het
Eya3 T G 4: 132,422,113 (GRCm39) D275E probably benign Het
Fam81a G T 9: 70,000,929 (GRCm39) Q272K probably benign Het
Foxf1 T C 8: 121,811,919 (GRCm39) V261A probably damaging Het
Gm9637 G A 14: 19,402,011 (GRCm38) noncoding transcript Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
Gtf2h2 A T 13: 100,625,433 (GRCm39) L61Q probably damaging Het
Hey2 T A 10: 30,710,382 (GRCm39) I124F probably benign Het
Hoxb3 A T 11: 96,236,789 (GRCm39) Y289F probably damaging Het
Kctd3 C T 1: 188,713,538 (GRCm39) R399Q probably damaging Het
Kif26b C G 1: 178,743,218 (GRCm39) P1105A probably benign Het
Klhl30 C T 1: 91,285,585 (GRCm39) T369M probably damaging Het
Lipo2 C T 19: 33,708,339 (GRCm39) G225D probably damaging Het
Macf1 T C 4: 123,274,327 (GRCm39) K6350E probably damaging Het
Myh13 A C 11: 67,232,058 (GRCm39) N446T probably damaging Het
Nos1ap T C 1: 170,146,150 (GRCm39) D468G probably damaging Het
Or10j2 C T 1: 173,098,242 (GRCm39) P167S possibly damaging Het
Or11h7 G A 14: 50,891,419 (GRCm39) G242R possibly damaging Het
Or4a77 C A 2: 89,487,459 (GRCm39) E109* probably null Het
Pde3a T C 6: 141,195,725 (GRCm39) L137P probably damaging Het
Ppm1f G A 16: 16,733,172 (GRCm39) R233Q probably benign Het
Rtf2 C A 2: 172,308,216 (GRCm39) A205E possibly damaging Het
Sh2d5 T C 4: 137,985,629 (GRCm39) F359S probably benign Het
Siglec1 G A 2: 130,916,188 (GRCm39) T1254M probably benign Het
Slc39a11 G A 11: 113,354,905 (GRCm39) P108L probably benign Het
Slc6a5 G A 7: 49,567,113 (GRCm39) probably null Het
Snph C T 2: 151,435,642 (GRCm39) V360M probably damaging Het
Snx29 A G 16: 11,223,651 (GRCm39) probably null Het
Sos1 A G 17: 80,759,408 (GRCm39) probably null Het
St8sia6 T A 2: 13,662,093 (GRCm39) N246I probably damaging Het
Thy1 T A 9: 43,958,030 (GRCm39) F53I probably damaging Het
Tle3 T A 9: 61,317,387 (GRCm39) Y421* probably null Het
Ttc21b C T 2: 66,056,355 (GRCm39) R677Q probably benign Het
Vmn2r107 A T 17: 20,595,252 (GRCm39) I602F probably benign Het
Wdr17 C A 8: 55,096,226 (GRCm39) G1016C probably benign Het
Wdr62 T C 7: 29,953,486 (GRCm39) E182G possibly damaging Het
Other mutations in Zfp597
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02939:Zfp597 APN 16 3,683,805 (GRCm39) missense probably benign 0.27
IGL02972:Zfp597 APN 16 3,684,387 (GRCm39) missense probably benign 0.20
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
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
Predicted Primers PCR Primer
(F):5'- GCAGTGTGTCTGATGAACCTCTCTC -3'
(R):5'- AGAAAAGGACTCCATTGCTGCACC -3'

Sequencing Primer
(F):5'- AAACCTCTCCcacatacactac -3'
(R):5'- TACTCTGAGCAATCTGAGCAG -3'
Posted On 2013-07-11