Incidental Mutation 'R6200:Zfp57'
ID 503160
Institutional Source Beutler Lab
Gene Symbol Zfp57
Ensembl Gene ENSMUSG00000036036
Gene Name zinc finger protein 57
Synonyms G19
MMRRC Submission 044340-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.419) question?
Stock # R6200 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 37312055-37321527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37321303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 386 (T386S)
Ref Sequence ENSEMBL: ENSMUSP00000133821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069250] [ENSMUST00000089968] [ENSMUST00000102665] [ENSMUST00000167275] [ENSMUST00000174524] [ENSMUST00000174672] [ENSMUST00000174747] [ENSMUST00000172540] [ENSMUST00000173921] [ENSMUST00000172580] [ENSMUST00000172527] [ENSMUST00000173588]
AlphaFold Q8C6P8
Predicted Effect probably benign
Transcript: ENSMUST00000069250
AA Change: T386S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065811
Gene: ENSMUSG00000036036
AA Change: T386S

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: T383S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087414
Gene: ENSMUSG00000036036
AA Change: T383S

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 noncoding transcript
Transcript: ENSMUST00000158194
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: ENSMUST00000174524
AA Change: T386S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134418
Gene: ENSMUSG00000036036
AA Change: T386S

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: T386S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133821
Gene: ENSMUSG00000036036
AA Change: T386S

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
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: ENSMUST00000173921
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: ENSMUST00000172527
SMART Domains Protein: ENSMUSP00000134116
Gene: ENSMUSG00000036036

DomainStartEndE-ValueType
KRAB 15 62 1.87e-14 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 91% (32/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,980,876 (GRCm39) Y54C probably damaging Het
Ash1l A G 3: 88,977,834 (GRCm39) H2719R probably damaging Het
Atraid A G 5: 31,210,210 (GRCm39) N127D probably damaging Het
Capzb T C 4: 139,007,324 (GRCm39) V145A probably benign Het
Catspere2 A G 1: 177,939,124 (GRCm39) N666D possibly damaging Het
Cfhr4 T A 1: 139,682,073 (GRCm39) R174S probably damaging Het
Cldn17 A C 16: 88,303,459 (GRCm39) L90R probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Fancc A C 13: 63,508,062 (GRCm39) L158V probably damaging Het
Fcamr T C 1: 130,730,927 (GRCm39) L60P probably benign Het
G6pd2 C T 5: 61,967,214 (GRCm39) R330C probably benign Het
Gpr158 A T 2: 21,404,227 (GRCm39) N333I probably damaging Het
Herpud2 A G 9: 25,062,130 (GRCm39) Y45H probably damaging Het
Icam5 A G 9: 20,950,045 (GRCm39) Y868C probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Homo
Luzp1 C A 4: 136,268,577 (GRCm39) Q267K probably benign Het
Nkpd1 C A 7: 19,258,528 (GRCm39) A769E possibly damaging Het
Or5p58 AACTCTGTCACT AACT 7: 107,694,732 (GRCm39) probably null Het
Pabpc4l C A 3: 46,401,138 (GRCm39) V169L probably damaging Het
Pcdhga7 A G 18: 37,849,135 (GRCm39) N381D probably damaging Het
Pcsk1 A T 13: 75,263,374 (GRCm39) N372Y possibly damaging Het
Ppp1r21 C T 17: 88,876,613 (GRCm39) T475M possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Psd2 G A 18: 36,139,776 (GRCm39) probably null Het
Psip1 T C 4: 83,392,610 (GRCm39) K100E probably benign Het
Pxdn A G 12: 30,053,111 (GRCm39) H1096R probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc16a8 C T 15: 79,137,137 (GRCm39) G91D probably damaging Het
Slc22a21 A T 11: 53,848,864 (GRCm39) I296N probably damaging Het
Smad9 A G 3: 54,696,607 (GRCm39) D224G probably benign Het
Tle2 G A 10: 81,424,706 (GRCm39) V678M probably damaging Het
Tmc1 C T 19: 20,766,954 (GRCm39) R749Q possibly damaging Het
Tmco3 T A 8: 13,342,077 (GRCm39) probably null Het
Tspoap1 A G 11: 87,652,529 (GRCm39) E101G possibly damaging Het
Other mutations in Zfp57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Zfp57 APN 17 37,320,514 (GRCm39) missense possibly damaging 0.79
IGL02172:Zfp57 APN 17 37,320,481 (GRCm39) missense possibly damaging 0.90
IGL02351:Zfp57 APN 17 37,320,919 (GRCm39) missense probably benign 0.04
IGL02358:Zfp57 APN 17 37,320,919 (GRCm39) missense probably benign 0.04
IGL02530:Zfp57 APN 17 37,317,056 (GRCm39) missense probably damaging 1.00
R0788:Zfp57 UTSW 17 37,317,092 (GRCm39) unclassified probably benign
R0891:Zfp57 UTSW 17 37,317,068 (GRCm39) missense probably damaging 0.97
R1457:Zfp57 UTSW 17 37,316,990 (GRCm39) missense probably damaging 0.99
R1898:Zfp57 UTSW 17 37,320,650 (GRCm39) missense possibly damaging 0.84
R2064:Zfp57 UTSW 17 37,320,568 (GRCm39) missense possibly damaging 0.80
R4794:Zfp57 UTSW 17 37,321,022 (GRCm39) missense possibly damaging 0.52
R6404:Zfp57 UTSW 17 37,320,716 (GRCm39) missense probably damaging 1.00
R6467:Zfp57 UTSW 17 37,316,942 (GRCm39) missense possibly damaging 0.84
R7942:Zfp57 UTSW 17 37,320,566 (GRCm39) missense probably damaging 1.00
R8051:Zfp57 UTSW 17 37,320,785 (GRCm39) missense probably damaging 0.98
R8296:Zfp57 UTSW 17 37,321,136 (GRCm39) missense probably benign 0.00
R8532:Zfp57 UTSW 17 37,320,793 (GRCm39) missense possibly damaging 0.94
R8679:Zfp57 UTSW 17 37,320,938 (GRCm39) missense probably damaging 0.97
R8768:Zfp57 UTSW 17 37,317,077 (GRCm39) missense probably benign 0.09
R9120:Zfp57 UTSW 17 37,320,650 (GRCm39) missense probably benign 0.03
R9412:Zfp57 UTSW 17 37,320,814 (GRCm39) missense probably benign 0.36
Z1088:Zfp57 UTSW 17 37,321,030 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATCACTTGTGCTGCCAAAG -3'
(R):5'- AAGACCTCAGTTTGACCTCCCC -3'

Sequencing Primer
(F):5'- TTGTGCTGCCAAAGACCAATCAG -3'
(R):5'- AAAATTGTATTTATTTTGTGGGGTGG -3'
Posted On 2018-02-27