Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Zfp57'

368883

Institutional Source

Beutler Lab

Gene Symbol

Zfp57

Ensembl Gene

ENSMUSG00000036036

Gene Name

zinc finger protein 57

Synonyms

G19

MMRRC Submission

042420-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37312055-37321527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37321022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 292 (N292S)

Ref Sequence

ENSEMBL: ENSMUSP00000134418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069250] [ENSMUST00000089968] [ENSMUST00000102665] [ENSMUST00000167275] [ENSMUST00000172527] [ENSMUST00000172540] [ENSMUST00000174524] [ENSMUST00000174672] [ENSMUST00000173588] [ENSMUST00000172580] [ENSMUST00000173921] [ENSMUST00000174747]

AlphaFold

Q8C6P8

Predicted Effect

probably benign
Transcript: ENSMUST00000069250
AA Change: N292S

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000065811
Gene: ENSMUSG00000036036
AA Change: N292S

Domain	Start	End	E-Value	Type
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: N289S

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000087414
Gene: ENSMUSG00000036036
AA Change: N289S

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
KRAB	15	62	1.87e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172540

SMART Domains

Protein: ENSMUSP00000134024
Gene: ENSMUSG00000036036

Domain	Start	End	E-Value	Type
KRAB	12	72	9.05e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174524
AA Change: N292S

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134418
Gene: ENSMUSG00000036036
AA Change: N292S

Domain	Start	End	E-Value	Type
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: N292S

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000133821
Gene: ENSMUSG00000036036
AA Change: N292S

Domain	Start	End	E-Value	Type
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: ENSMUST00000173588

SMART Domains

Protein: ENSMUSP00000135655
Gene: ENSMUSG00000036036

Domain	Start	End	E-Value	Type
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: ENSMUST00000172580

SMART Domains

Protein: ENSMUSP00000133894
Gene: ENSMUSG00000036036

Domain	Start	End	E-Value	Type
KRAB	12	72	9.05e-22	SMART
ZnF_C2H2	137	159	4.17e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173921

Predicted Effect

probably benign
Transcript: ENSMUST00000174747

Meta Mutation Damage Score

0.1655

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,198 (GRCm39)	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,459,978 (GRCm39)	E537G	probably damaging	Het
Asic3	C	T	5: 24,620,895 (GRCm39)	A259V	probably damaging	Het
Bcar1	G	A	8: 112,447,552 (GRCm39)	Q142*	probably null	Het
Bcas3	T	C	11: 85,400,294 (GRCm39)	V200A	probably damaging	Het
Cd302	A	T	2: 60,102,493 (GRCm39)	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984 (GRCm39)	N387K	probably damaging	Het
Copa	T	A	1: 171,946,888 (GRCm39)	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,038,059 (GRCm39)	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,171,420 (GRCm39)	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,153,199 (GRCm39)	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,862,300 (GRCm39)	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,761,003 (GRCm39)	Y114F	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Epm2a	A	G	10: 11,266,597 (GRCm39)	D114G	probably benign	Het
Exoc5	T	C	14: 49,286,357 (GRCm39)		probably null	Het
Fam135a	G	A	1: 24,068,241 (GRCm39)	T706I	probably benign	Het
Fasn	A	G	11: 120,702,121 (GRCm39)	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,595 (GRCm39)	E255G	probably damaging	Het
Galnt7	A	T	8: 57,998,397 (GRCm39)	Y311N	probably damaging	Het
Grid1	T	C	14: 34,544,579 (GRCm39)	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933 (GRCm39)	F331L	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif1a	T	C	1: 92,953,449 (GRCm39)	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,806,707 (GRCm39)	F1022L	probably damaging	Het
Med16	G	T	10: 79,735,951 (GRCm39)	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,439,155 (GRCm39)		probably benign	Het
Myh7b	G	A	2: 155,465,186 (GRCm39)	V681I	probably benign	Het
Ndc1	A	G	4: 107,247,419 (GRCm39)	E409G	probably benign	Het
Necap2	A	G	4: 140,798,912 (GRCm39)		probably benign	Het
Or2a57	T	A	6: 43,212,629 (GRCm39)	L29H	probably damaging	Het
Or4p21	A	T	2: 88,276,691 (GRCm39)	M197K	probably benign	Het
Or7g29	C	T	9: 19,286,841 (GRCm39)	S112N	probably benign	Het
Parp12	G	A	6: 39,094,744 (GRCm39)	T117I	probably benign	Het
Pars2	C	A	4: 106,511,407 (GRCm39)	C396*	probably null	Het
Prg4	A	T	1: 150,330,297 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,114,492 (GRCm39)	T523I	probably damaging	Het
Prph	T	A	15: 98,955,308 (GRCm39)	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,567,552 (GRCm39)	Y549H	probably damaging	Het
Rbm12	A	T	2: 155,937,489 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,549,183 (GRCm39)	Y75C	probably damaging	Het
Rock2	G	A	12: 16,990,408 (GRCm39)	R110H	probably damaging	Het
Samd1	G	A	8: 84,726,346 (GRCm39)	E468K	probably damaging	Het
Samd11	T	A	4: 156,333,922 (GRCm39)	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,065,151 (GRCm39)	G37V	probably damaging	Het
Sf1	C	A	19: 6,425,694 (GRCm39)		probably benign	Het
Slc17a5	T	A	9: 78,481,997 (GRCm39)	H183L	probably damaging	Het
Slco1a7	A	G	6: 141,713,288 (GRCm39)	V31A	probably benign	Het
Smgc	T	A	15: 91,725,657 (GRCm39)	S13T	probably benign	Het
Snapin	A	G	3: 90,398,092 (GRCm39)		probably benign	Het
Spata31e4	C	G	13: 50,857,275 (GRCm39)	P971R	probably benign	Het
Ssc5d	C	T	7: 4,946,744 (GRCm39)	P1033S	probably benign	Het
Strn3	T	C	12: 51,696,954 (GRCm39)	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,072,932 (GRCm39)	F238L	possibly damaging	Het
Tbck	G	A	3: 132,392,729 (GRCm39)	V57M	possibly damaging	Het
Tgm3	A	G	2: 129,883,875 (GRCm39)	D511G	probably benign	Het
Tlr5	T	C	1: 182,801,461 (GRCm39)	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,887,754 (GRCm39)		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,335,047 (GRCm39)	C168Y	probably damaging	Het
Tph2	G	T	10: 115,018,675 (GRCm39)	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,551,702 (GRCm39)		probably null	Het
Ttc14	A	T	3: 33,857,298 (GRCm39)	M215L	probably benign	Het
Ube3c	A	G	5: 29,802,083 (GRCm39)	N120S	probably benign	Het
Ubr2	A	T	17: 47,241,371 (GRCm39)	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,776,602 (GRCm39)	T318A	probably benign	Het
Washc2	T	C	6: 116,235,610 (GRCm39)	V941A	probably benign	Het
Wdfy3	A	G	5: 102,091,809 (GRCm39)	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,693,188 (GRCm39)	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,236,862 (GRCm39)	D537A	probably benign	Het

Other mutations in Zfp57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6200:Zfp57	UTSW	17	37,321,303 (GRCm39)	missense	probably benign
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'- CGCCCTCAAGTATGTGAAAGTG -3'
(R):5'- CGGGTTCATGAAGATAGCCG -3'

Sequencing Primer
(F):5'- CCCTCAAGTATGTGAAAGTGATCCAG -3'
(R):5'- GAGCAAATGACCCAGGATTTC -3'

Posted On

2016-02-04