Incidental Mutation 'IGL02172:Zfp57'
ID282931
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? Probably essential (E-score: 0.768) question?
Stock #IGL02172
Quality Score
Status
Chromosome17
Chromosomal Location37001163-37010635 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 37009589 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 112 (V112L)
Ref Sequence ENSEMBL: ENSMUSP00000133821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069250] [ENSMUST00000089968] [ENSMUST00000102665] [ENSMUST00000167275] [ENSMUST00000172527] [ENSMUST00000172540] [ENSMUST00000172580] [ENSMUST00000173588] [ENSMUST00000173921] [ENSMUST00000174524] [ENSMUST00000174672] [ENSMUST00000174747]
Predicted Effect possibly damaging
Transcript: ENSMUST00000069250
AA Change: V112L

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065811
Gene: ENSMUSG00000036036
AA Change: V112L

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 possibly damaging
Transcript: ENSMUST00000089968
AA Change: V109L

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000087414
Gene: ENSMUSG00000036036
AA Change: V109L

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 possibly damaging
Transcript: ENSMUST00000172540
AA Change: V109L

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134024
Gene: ENSMUSG00000036036
AA Change: V109L

DomainStartEndE-ValueType
KRAB 12 72 9.05e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000172580
AA Change: V109L

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133894
Gene: ENSMUSG00000036036
AA Change: V109L

DomainStartEndE-ValueType
KRAB 12 72 9.05e-22 SMART
ZnF_C2H2 137 159 4.17e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173588
AA Change: V69L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135655
Gene: ENSMUSG00000036036
AA Change: V69L

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: V112L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134418
Gene: ENSMUSG00000036036
AA Change: V112L

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 possibly damaging
Transcript: ENSMUST00000174672
AA Change: V112L

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133821
Gene: ENSMUSG00000036036
AA Change: V112L

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,004,873 V3236A probably damaging Het
Abca12 A G 1: 71,302,658 V1048A probably benign Het
Adgre1 C T 17: 57,478,879 T875I probably damaging Het
Arhgef26 T C 3: 62,459,676 V810A probably benign Het
Atf1 T A 15: 100,254,441 V105E probably damaging Het
Bbs9 C T 9: 22,579,476 T300I possibly damaging Het
Brd7 G T 8: 88,351,824 H226Q probably benign Het
Cadps T C 14: 12,705,681 K238R probably damaging Het
Chordc1 A G 9: 18,302,092 T80A possibly damaging Het
Clca4a A T 3: 144,970,394 C126* probably null Het
Col24a1 A T 3: 145,314,962 T365S probably benign Het
Crb1 C T 1: 139,237,227 G1053D probably damaging Het
Creb3l4 A T 3: 90,242,775 S20T probably benign Het
Cyp2c67 C T 19: 39,649,002 C10Y possibly damaging Het
Dhdh A T 7: 45,475,617 C294S probably damaging Het
Fam135a A G 1: 24,024,780 probably null Het
Fsd1 G T 17: 55,990,244 probably benign Het
Gatad2b A G 3: 90,355,671 probably benign Het
Glb1l2 T C 9: 26,769,086 D232G probably damaging Het
Gm10553 T C 1: 85,100,294 L44P probably damaging Het
Hecw1 T C 13: 14,264,149 Y883C probably damaging Het
Helq A G 5: 100,790,147 F478L probably damaging Het
Ift172 T C 5: 31,281,337 probably benign Het
Krtcap3 A C 5: 31,252,053 T55P probably damaging Het
Megf6 A G 4: 154,270,692 D1488G probably damaging Het
Mrpl1 T C 5: 96,231,715 V203A probably damaging Het
Myh2 A T 11: 67,189,052 D1084V possibly damaging Het
Necap2 T A 4: 141,078,310 probably benign Het
Nemp1 A G 10: 127,692,999 S191G probably benign Het
Nrip1 T C 16: 76,291,492 D1059G probably damaging Het
Ntrk3 A T 7: 78,460,272 probably benign Het
Olfr558 G A 7: 102,709,844 R195H probably benign Het
Olfr583 A G 7: 103,051,375 I26V probably benign Het
Prkdc T G 16: 15,809,759 V3427G probably benign Het
Ptprn2 A T 12: 116,873,697 probably benign Het
Ptprt A T 2: 161,555,502 L1095H probably damaging Het
Ren1 T A 1: 133,359,033 L300Q possibly damaging Het
Rgl3 A G 9: 21,976,838 I460T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Runx1t1 A C 4: 13,859,924 Q265P probably benign Het
Sh3d21 A G 4: 126,152,360 S282P probably benign Het
Slc39a13 T C 2: 91,063,160 E318G possibly damaging Het
Srd5a3 T C 5: 76,147,709 I82T probably benign Het
Stard7 C A 2: 127,290,872 T220N probably damaging Het
Tbx4 G A 11: 85,914,563 G493R possibly damaging Het
Trerf1 A T 17: 47,317,817 noncoding transcript Het
Trim59 T A 3: 69,037,477 I177L probably benign Het
Trpm7 T C 2: 126,795,328 M1789V possibly damaging Het
Tsc22d1 T C 14: 76,417,692 V455A probably benign Het
Vmn2r118 C A 17: 55,624,598 M25I probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wdr90 G A 17: 25,850,434 T1233I probably benign Het
Zcchc2 G A 1: 106,000,934 D308N probably benign Het
Zfp874b A T 13: 67,474,016 Y388N probably damaging Het
Other mutations in Zfp57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Zfp57 APN 17 37009622 missense possibly damaging 0.79
IGL02351:Zfp57 APN 17 37010027 missense probably benign 0.04
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
Z1088:Zfp57 UTSW 17 37010138 missense probably damaging 1.00
Posted On2015-04-16