Incidental Mutation 'IGL02351:Zfp57'
ID289466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp57
Ensembl Gene ENSMUSG00000036036
Gene Namezinc finger protein 57
SynonymsG19
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.426) question?
Stock #IGL02351
Quality Score
Status
Chromosome17
Chromosomal Location37001163-37010635 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 37010027 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 258 (V258I)
Ref Sequence ENSEMBL: ENSMUSP00000134418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069250] [ENSMUST00000089968] [ENSMUST00000102665] [ENSMUST00000167275] [ENSMUST00000172527] [ENSMUST00000172540] [ENSMUST00000172580] [ENSMUST00000173588] [ENSMUST00000173921] [ENSMUST00000174524] [ENSMUST00000174672] [ENSMUST00000174747]
Predicted Effect probably benign
Transcript: ENSMUST00000069250
AA Change: V258I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000065811
Gene: ENSMUSG00000036036
AA Change: V258I

DomainStartEndE-ValueType
KRAB 15 75 3.9e-24 SMART
ZnF_C2H2 140 162 1.8e-5 SMART
ZnF_C2H2 168 190 9.1e-6 SMART
low complexity region 195 207 N/A INTRINSIC
ZnF_C2H2 264 286 4.2e-4 SMART
ZnF_C2H2 313 333 9.2e-2 SMART
low complexity region 377 383 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089968
AA Change: V255I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087414
Gene: ENSMUSG00000036036
AA Change: V255I

DomainStartEndE-ValueType
KRAB 12 72 9.05e-22 SMART
ZnF_C2H2 137 159 4.17e-3 SMART
ZnF_C2H2 165 187 2.09e-3 SMART
low complexity region 192 204 N/A INTRINSIC
ZnF_C2H2 261 283 9.44e-2 SMART
ZnF_C2H2 310 330 2.17e1 SMART
low complexity region 374 380 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102665
SMART Domains Protein: ENSMUSP00000099726
Gene: ENSMUSG00000076439

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
IGv 48 129 2.28e-16 SMART
transmembrane domain 156 178 N/A INTRINSIC
transmembrane domain 209 231 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167275
SMART Domains Protein: ENSMUSP00000129489
Gene: ENSMUSG00000076439

DomainStartEndE-ValueType
low complexity region 4 27 N/A INTRINSIC
IGv 48 129 2.28e-16 SMART
transmembrane domain 156 178 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172502
Predicted Effect probably benign
Transcript: ENSMUST00000172527
SMART Domains Protein: ENSMUSP00000134116
Gene: ENSMUSG00000036036

DomainStartEndE-ValueType
KRAB 15 62 1.87e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172540
SMART Domains Protein: ENSMUSP00000134024
Gene: ENSMUSG00000036036

DomainStartEndE-ValueType
KRAB 12 72 9.05e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172580
SMART Domains Protein: ENSMUSP00000133894
Gene: ENSMUSG00000036036

DomainStartEndE-ValueType
KRAB 12 72 9.05e-22 SMART
ZnF_C2H2 137 159 4.17e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173588
SMART Domains Protein: ENSMUSP00000135655
Gene: ENSMUSG00000036036

DomainStartEndE-ValueType
Blast:KRAB 1 32 3e-14 BLAST
ZnF_C2H2 97 119 4.17e-3 SMART
ZnF_C2H2 125 145 1.36e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173921
Predicted Effect probably benign
Transcript: ENSMUST00000174524
AA Change: V258I

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000134418
Gene: ENSMUSG00000036036
AA Change: V258I

DomainStartEndE-ValueType
KRAB 15 75 3.8e-24 SMART
ZnF_C2H2 140 162 1.8e-5 SMART
ZnF_C2H2 168 190 8.9e-6 SMART
low complexity region 195 207 N/A INTRINSIC
ZnF_C2H2 264 286 4.1e-4 SMART
ZnF_C2H2 313 333 9e-2 SMART
low complexity region 377 383 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174672
AA Change: V258I

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133821
Gene: ENSMUSG00000036036
AA Change: V258I

DomainStartEndE-ValueType
KRAB 15 75 3.8e-24 SMART
ZnF_C2H2 140 162 1.8e-5 SMART
ZnF_C2H2 168 190 8.9e-6 SMART
low complexity region 195 207 N/A INTRINSIC
ZnF_C2H2 264 286 4.1e-4 SMART
ZnF_C2H2 313 333 9e-2 SMART
low complexity region 377 383 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174747
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit some postnatal lethality with abnormal imprinting and fetal lethality observed in the homozygous offspring of homozygous females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,654,055 T448A possibly damaging Het
Adamtsl1 T A 4: 86,156,873 probably null Het
Adgra3 A G 5: 50,058,558 V73A probably benign Het
Aggf1 T C 13: 95,352,850 probably benign Het
Aktip C T 8: 91,126,892 V96I possibly damaging Het
Atm A G 9: 53,522,176 I258T probably benign Het
Baz1b C T 5: 135,244,306 T1428I probably damaging Het
C3ar1 A T 6: 122,849,975 Y428N probably damaging Het
C87499 A T 4: 88,627,890 I405N probably damaging Het
Cadps A G 14: 12,597,380 S437P probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cbwd1 A T 19: 24,931,662 probably null Het
Cenpq A G 17: 40,924,332 L213P probably damaging Het
Cept1 A G 3: 106,539,188 probably null Het
Cln6 A G 9: 62,847,125 I150V probably benign Het
Cyb5r3 T C 15: 83,160,935 T94A probably benign Het
Cyp2c67 A G 19: 39,617,417 M345T probably damaging Het
Dapk2 T A 9: 66,246,523 I187N probably damaging Het
Dkk2 A G 3: 132,177,912 D191G probably benign Het
Dnah8 T A 17: 30,767,811 F3145I probably damaging Het
Dock1 A C 7: 135,108,819 D1190A possibly damaging Het
Ehhadh T A 16: 21,762,870 L457F probably damaging Het
Ercc6l2 T C 13: 63,853,683 L552P probably damaging Het
Ghrhr T G 6: 55,384,153 I284S probably damaging Het
Gm10288 A T 3: 146,839,199 noncoding transcript Het
Gp6 T G 7: 4,394,508 I19L probably benign Het
Gria4 G A 9: 4,456,206 S698L possibly damaging Het
Ifng A T 10: 118,442,505 I53F possibly damaging Het
Kazn A C 4: 142,147,016 probably null Het
Khk A T 5: 30,928,504 I136F probably damaging Het
Lnx1 T A 5: 74,627,366 N98Y probably damaging Het
Lsp1 T C 7: 142,488,942 probably null Het
Lta4h A T 10: 93,478,467 N467I probably benign Het
Mcmbp C A 7: 128,709,781 probably null Het
Me2 A T 18: 73,797,967 I85K probably benign Het
Muc4 C T 16: 32,750,986 T288I possibly damaging Het
Nadsyn1 A T 7: 143,799,912 Y525N probably damaging Het
Nt5e G A 9: 88,327,893 V70M probably damaging Het
Olfr677 G A 7: 105,056,975 G243D probably damaging Het
Olfr827 T G 10: 130,210,734 Y132S probably damaging Het
Olfr883 A T 9: 38,026,036 I77L possibly damaging Het
Pkd1l3 A G 8: 109,646,497 probably benign Het
Ppm1d A T 11: 85,345,715 E440V probably damaging Het
Ripor2 A T 13: 24,731,589 E1047D probably damaging Het
Rwdd2b G A 16: 87,437,448 A18V probably benign Het
Serpina5 G T 12: 104,102,125 K148N probably damaging Het
Setx A G 2: 29,146,964 K1154E probably benign Het
Skap1 T A 11: 96,708,556 probably null Het
Spcs2 T C 7: 99,849,034 K81R probably damaging Het
Stt3b T A 9: 115,250,907 M646L possibly damaging Het
Suco T C 1: 161,818,626 T1169A probably benign Het
Susd1 A T 4: 59,427,985 Y66* probably null Het
Trim34a T A 7: 104,261,234 C414* probably null Het
Trim58 G A 11: 58,651,350 G379S probably damaging Het
Vmn2r50 T A 7: 10,053,075 Q35L probably benign Het
Zfp418 T C 7: 7,174,691 probably benign Het
Other mutations in Zfp57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Zfp57 APN 17 37009622 missense possibly damaging 0.79
IGL02172:Zfp57 APN 17 37009589 missense possibly damaging 0.90
IGL02358:Zfp57 APN 17 37010027 missense probably benign 0.04
IGL02530:Zfp57 APN 17 37006164 missense probably damaging 1.00
R0788:Zfp57 UTSW 17 37006200 unclassified probably benign
R0891:Zfp57 UTSW 17 37006176 missense probably damaging 0.97
R1457:Zfp57 UTSW 17 37006098 missense probably damaging 0.99
R1898:Zfp57 UTSW 17 37009758 missense possibly damaging 0.84
R2064:Zfp57 UTSW 17 37009676 missense possibly damaging 0.80
R4794:Zfp57 UTSW 17 37010130 missense possibly damaging 0.52
R6200:Zfp57 UTSW 17 37010411 missense probably benign
R6404:Zfp57 UTSW 17 37009824 missense probably damaging 1.00
R6467:Zfp57 UTSW 17 37006050 missense possibly damaging 0.84
R7942:Zfp57 UTSW 17 37009674 missense probably damaging 1.00
R8051:Zfp57 UTSW 17 37009893 missense probably damaging 0.98
R8296:Zfp57 UTSW 17 37010244 missense probably benign 0.00
Z1088:Zfp57 UTSW 17 37010138 missense probably damaging 1.00
Posted On2015-04-16