Mutagenetix > Incidental Mutation

Incidental Mutation 'R1898:Zfp57'

212167

Institutional Source

Beutler Lab

Gene Symbol

Zfp57

Ensembl Gene

ENSMUSG00000036036

Gene Name

zinc finger protein 57

Synonyms

G19

MMRRC Submission

039918-MU

Accession Numbers

Essential gene?

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

Stock #

R1898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37312055-37321527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37320650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 168 (R168L)

Ref Sequence

ENSEMBL: ENSMUSP00000133821 (fasta)

Gene Model

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

AlphaFold

Q8C6P8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069250
AA Change: R168L

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065811
Gene: ENSMUSG00000036036
AA Change: R168L

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

possibly damaging
Transcript: ENSMUST00000089968
AA Change: R165L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087414
Gene: ENSMUSG00000036036
AA Change: R165L

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: ENSMUST00000174672
AA Change: R168L

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133821
Gene: ENSMUSG00000036036
AA Change: R168L

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

possibly damaging
Transcript: ENSMUST00000173588
AA Change: R125L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135655
Gene: ENSMUSG00000036036
AA Change: R125L

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: ENSMUST00000174524
AA Change: R168L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000134418
Gene: ENSMUSG00000036036
AA Change: R168L

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: ENSMUST00000174747

Predicted Effect

probably benign
Transcript: ENSMUST00000173921

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

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	A	4: 53,071,977 (GRCm39)	R1195L	probably benign	Het
Abca14	A	G	7: 119,850,392 (GRCm39)	Y748C	probably damaging	Het
Abca6	A	G	11: 110,099,625 (GRCm39)	F974S	probably damaging	Het
Acyp1	T	C	12: 85,335,114 (GRCm39)	K2E	probably benign	Het
Ahcy	T	A	2: 154,904,173 (GRCm39)	S355C	probably benign	Het
AI182371	A	G	2: 34,990,661 (GRCm39)	V12A	probably damaging	Het
Ankrd36	T	C	11: 5,525,683 (GRCm39)	I215T	probably benign	Het
Aox1	C	T	1: 58,117,601 (GRCm39)	R828C	probably damaging	Het
Atp1a4	T	A	1: 172,062,615 (GRCm39)	I631F	probably damaging	Het
Brd10	T	C	19: 29,712,532 (GRCm39)	N789S	possibly damaging	Het
Brinp3	T	G	1: 146,776,987 (GRCm39)	V478G	possibly damaging	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Celf2	C	T	2: 6,608,975 (GRCm39)	V95M	probably damaging	Het
Chka	A	T	19: 3,942,205 (GRCm39)	E404D	probably damaging	Het
Clec5a	A	C	6: 40,558,870 (GRCm39)	V72G	probably benign	Het
Cnn1	T	C	9: 22,012,560 (GRCm39)		probably null	Het
Coq6	A	G	12: 84,413,737 (GRCm39)	E89G	probably benign	Het
Cpne6	A	T	14: 55,754,485 (GRCm39)	I538F	possibly damaging	Het
Crx	G	A	7: 15,602,148 (GRCm39)	P177S	probably damaging	Het
Cysltr2	G	T	14: 73,266,973 (GRCm39)	P246T	probably damaging	Het
Decr1	A	G	4: 15,929,801 (GRCm39)	I164T	probably damaging	Het
Dmtf1	A	T	5: 9,178,091 (GRCm39)	V315E	probably damaging	Het
Dnah7b	A	G	1: 46,275,874 (GRCm39)	N2587S	probably benign	Het
E2f6	C	A	12: 16,874,581 (GRCm39)	T221K	probably benign	Het
Fat3	T	G	9: 15,871,426 (GRCm39)	D3655A	probably damaging	Het
Fbxw28	G	A	9: 109,152,452 (GRCm39)	T384I	probably benign	Het
Fes	T	A	7: 80,029,659 (GRCm39)	I608F	probably damaging	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Gabrb2	A	G	11: 42,484,659 (GRCm39)	K239E	possibly damaging	Het
Gen1	T	C	12: 11,291,609 (GRCm39)	R727G	probably benign	Het
Glb1	T	A	9: 114,253,103 (GRCm39)	V184E	probably damaging	Het
Gngt1	A	T	6: 3,996,724 (GRCm39)	I57F	possibly damaging	Het
Ice1	T	C	13: 70,750,426 (GRCm39)	I87V	possibly damaging	Het
Itih1	A	G	14: 30,654,244 (GRCm39)	Y674H	probably benign	Het
Itsn1	T	A	16: 91,696,468 (GRCm39)	C24S	probably damaging	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Myh10	A	G	11: 68,662,732 (GRCm39)	N595S	probably damaging	Het
Myo5c	C	T	9: 75,204,908 (GRCm39)	T1587I	probably damaging	Het
Npat	T	A	9: 53,474,937 (GRCm39)	F910I	probably damaging	Het
Nradd	T	C	9: 110,450,676 (GRCm39)	Y167C	probably damaging	Het
Nt5dc1	T	C	10: 34,189,631 (GRCm39)	E352G	probably benign	Het
Numa1	T	C	7: 101,641,927 (GRCm39)		probably null	Het
Odc1	T	A	12: 17,598,842 (GRCm39)	S241T	probably damaging	Het
Or11g2	A	T	14: 50,856,231 (GRCm39)	D184V	probably damaging	Het
Or14j7	A	T	17: 38,234,516 (GRCm39)	N20Y	possibly damaging	Het
Pcnx3	T	C	19: 5,722,615 (GRCm39)	D951G	probably damaging	Het
Pigg	T	C	5: 108,484,408 (GRCm39)	F685L	probably benign	Het
Pnpla7	T	A	2: 24,943,796 (GRCm39)		probably benign	Het
Pramel16	C	T	4: 143,677,298 (GRCm39)	V94M	probably damaging	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rp1l1	A	T	14: 64,269,039 (GRCm39)	T1542S	probably benign	Het
Sct	A	T	7: 140,858,761 (GRCm39)	L57Q	probably damaging	Het
Serpinb3b	T	C	1: 107,082,317 (GRCm39)	S316G	possibly damaging	Het
Shprh	T	C	10: 11,062,613 (GRCm39)	L1240S	probably damaging	Het
Slc4a1	C	T	11: 102,241,133 (GRCm39)	E924K	probably damaging	Het
Sp7	A	T	15: 102,267,453 (GRCm39)	Y118N	possibly damaging	Het
Srebf2	A	G	15: 82,087,936 (GRCm39)	T219A	probably damaging	Het
Tenm3	G	T	8: 48,763,796 (GRCm39)	P753T	probably damaging	Het
Tonsl	A	T	15: 76,523,053 (GRCm39)		probably null	Het
Trio	A	T	15: 27,742,466 (GRCm39)	S2675T	possibly damaging	Het
Tspan12	T	C	6: 21,795,693 (GRCm39)	T166A	probably damaging	Het
Ttll4	A	G	1: 74,736,641 (GRCm39)	D1122G	probably benign	Het
Vmn1r77	G	A	7: 11,775,550 (GRCm39)	A41T	probably damaging	Het
Xpo7	A	T	14: 70,933,064 (GRCm39)	F276Y	probably benign	Het
Zdhhc1	A	T	8: 106,205,378 (GRCm39)		probably null	Het
Zfp319	C	A	8: 96,055,417 (GRCm39)	C262F	probably damaging	Het
Zfp442	C	T	2: 150,250,582 (GRCm39)	C383Y	probably damaging	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
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
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'- CTGACCTGTGGCAAATGTTTC -3'
(R):5'- TTCACATACTTGAGGGCGG -3'

Sequencing Primer
(F):5'- AATCACCAGTTTCCTGTGAGG -3'
(R):5'- CGGGCGCTTGGGATCTAG -3'

Posted On

2014-06-30