Incidental Mutation 'R4361:Zfp597'
ID 324933
Institutional Source Beutler Lab
Gene Symbol Zfp597
Ensembl Gene ENSMUSG00000039789
Gene Name zinc finger protein 597
Synonyms 4933407K12Rik
MMRRC Submission 041112-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R4361 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 3679408-3702241 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3683764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 331 (S331T)
Ref Sequence ENSEMBL: ENSMUSP00000088009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090522]
AlphaFold E9Q6S0
Predicted Effect probably damaging
Transcript: ENSMUST00000090522
AA Change: S331T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088009
Gene: ENSMUSG00000039789
AA Change: S331T

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
Meta Mutation Damage Score 0.2725 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (61/61)
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
1700003E16Rik A G 6: 83,139,688 (GRCm39) T538A probably damaging Het
4930578I07Rik T C 14: 67,175,850 (GRCm39) noncoding transcript Het
Aadac T A 3: 59,947,182 (GRCm39) S293R probably benign Het
Cc2d1b G A 4: 108,481,947 (GRCm39) probably benign Het
Ccdc157 C T 11: 4,096,550 (GRCm39) A400T probably damaging Het
Cdc42ep5 A G 7: 4,154,779 (GRCm39) V3A possibly damaging Het
Cyp11b1 T A 15: 74,710,865 (GRCm39) M232L possibly damaging Het
Dhrs2 G A 14: 55,478,646 (GRCm39) D264N probably damaging Het
Dram2 T C 3: 106,473,531 (GRCm39) probably benign Het
Dtx4 C A 19: 12,462,660 (GRCm39) S373I probably benign Het
Eif4a1 G A 11: 69,558,290 (GRCm39) probably benign Het
Eps15 T C 4: 109,237,228 (GRCm39) probably null Het
Fam135b T A 15: 71,362,676 (GRCm39) Q235L probably damaging Het
Fgfr3 T C 5: 33,880,676 (GRCm39) probably benign Het
Gabra4 C T 5: 71,790,888 (GRCm39) probably null Het
Gins1 A G 2: 150,767,821 (GRCm39) Y117C probably damaging Het
Gm12253 T A 11: 58,325,687 (GRCm39) S53T probably benign Het
Gne C A 4: 44,059,947 (GRCm39) A149S possibly damaging Het
Gpc2 A T 5: 138,276,552 (GRCm39) C191* probably null Het
Has2 G T 15: 56,545,344 (GRCm39) A86E probably damaging Het
Ift80 A T 3: 68,870,982 (GRCm39) S205T probably damaging Het
Irx5 G T 8: 93,085,025 (GRCm39) A72S probably damaging Het
Kcnmb4 A T 10: 116,309,410 (GRCm39) V6E probably benign Het
Kcnt1 A T 2: 25,768,044 (GRCm39) Q51L probably benign Het
Klk1b11 A G 7: 43,645,378 (GRCm39) probably null Het
Kmt2d T G 15: 98,761,551 (GRCm39) M600L unknown Het
Lmtk2 T A 5: 144,084,482 (GRCm39) S172R probably damaging Het
Lrrc37 CTTTT CTTTTT 11: 103,508,327 (GRCm39) probably null Het
Lrrc46 G A 11: 96,925,496 (GRCm39) probably benign Het
Mab21l2 C T 3: 86,454,497 (GRCm39) V168M probably damaging Het
Magea3 A C X: 153,731,850 (GRCm39) C218G possibly damaging Het
Magea3 C A X: 153,731,849 (GRCm39) C218F probably benign Het
Man1a2 T C 3: 100,563,358 (GRCm39) K96E probably benign Het
Mroh2a A T 1: 88,182,687 (GRCm39) N1205I possibly damaging Het
Myf6 GGGGGCAG GG 10: 107,330,293 (GRCm39) probably benign Het
Myom2 G A 8: 15,162,018 (GRCm39) V984I possibly damaging Het
Nav1 G A 1: 135,535,175 (GRCm39) probably benign Het
Nav3 T C 10: 109,688,847 (GRCm39) K477E probably damaging Het
Nup98 T A 7: 101,794,921 (GRCm39) H862L probably damaging Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pcnx2 G T 8: 126,495,037 (GRCm39) S1608* probably null Het
Pramel16 A G 4: 143,677,433 (GRCm39) F49L possibly damaging Het
Ren1 A G 1: 133,286,779 (GRCm39) I303V probably benign Het
Retreg3 T A 11: 100,994,713 (GRCm39) probably null Het
Rnf6 C A 5: 146,148,089 (GRCm39) V310F probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scrn2 C T 11: 96,923,064 (GRCm39) A169V probably null Het
Slc4a10 T C 2: 62,073,729 (GRCm39) S264P probably benign Het
Tex26 A T 5: 149,384,388 (GRCm39) Q102L probably benign Het
Tex38 A G 4: 115,637,420 (GRCm39) S128P probably benign Het
Trmt1l A G 1: 151,311,626 (GRCm39) probably benign Het
Tyr G T 7: 87,078,284 (GRCm39) H525Q probably benign Het
Veph1 T C 3: 66,066,737 (GRCm39) N417S probably benign 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
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
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'- GTGACGAGCTGCATACTCAC -3'
(R):5'- GGGAAGCAAATCTGGCTTTG -3'

Sequencing Primer
(F):5'- CACACTGTGCATTTAAAAGGCTC -3'
(R):5'- CTTTGCCTGAAGAGAGAGGTTCATC -3'
Posted On 2015-07-06