Mutagenetix > Incidental Mutation

Incidental Mutation 'R6467:Zfp57'

516683

Institutional Source

Beutler Lab

Gene Symbol

Zfp57

Ensembl Gene

ENSMUSG00000036036

Gene Name

zinc finger protein 57

Synonyms

G19

MMRRC Submission

044600-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

R6467 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37312055-37321527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37316942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 7 (S7P)

Ref Sequence

ENSEMBL: ENSMUSP00000133821 (fasta)

Gene Model

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

AlphaFold

Q8C6P8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069250
AA Change: S7P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065811
Gene: ENSMUSG00000036036
AA Change: S7P

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

SMART Domains

Protein: ENSMUSP00000087414
Gene: ENSMUSG00000036036

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

noncoding transcript
Transcript: ENSMUST00000172502

Predicted Effect

probably benign
Transcript: ENSMUST00000172527
AA Change: S7P

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

SMART Domains

Protein: ENSMUSP00000134116
Gene: ENSMUSG00000036036
AA Change: S7P

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

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

unknown
Transcript: ENSMUST00000173921
AA Change: S7P

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174524
AA Change: S7P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134418
Gene: ENSMUSG00000036036
AA Change: S7P

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: ENSMUST00000174672
AA Change: S7P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133821
Gene: ENSMUSG00000036036
AA Change: S7P

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

unknown
Transcript: ENSMUST00000174747
AA Change: S7P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174016

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

noncoding transcript
Transcript: ENSMUST00000174470

Meta Mutation Damage Score

0.0950

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (72/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	T	C	15: 101,092,722 (GRCm39)	W122R	possibly damaging	Het
Adgrv1	C	T	13: 81,592,657 (GRCm39)	R4294H	probably benign	Het
Afdn	A	G	17: 14,024,315 (GRCm39)	T74A	probably damaging	Het
Aff3	T	A	1: 38,247,098 (GRCm39)	D829V	probably benign	Het
Akr1c12	T	C	13: 4,325,772 (GRCm39)	Q107R	probably benign	Het
Apc	T	A	18: 34,402,252 (GRCm39)	F131I	probably benign	Het
Atosb	A	T	4: 43,033,687 (GRCm39)	F489I	probably damaging	Het
Atp13a1	T	A	8: 70,259,424 (GRCm39)	L1036H	probably damaging	Het
BC035044	A	C	6: 128,867,855 (GRCm39)		probably benign	Het
C1rl	A	G	6: 124,485,535 (GRCm39)	D302G	probably benign	Het
C2cd6	A	C	1: 59,117,093 (GRCm39)	D133E	probably benign	Het
Cacna1c	T	A	6: 118,629,671 (GRCm39)	Y1061F	probably damaging	Het
Cav1	A	G	6: 17,308,034 (GRCm39)	D62G	probably damaging	Het
Ccdc77	T	C	6: 120,327,242 (GRCm39)	M68V	probably damaging	Het
Cd55	A	T	1: 130,375,348 (GRCm39)		probably benign	Het
Cdc27	C	A	11: 104,413,602 (GRCm39)	A380S	probably damaging	Het
Cenpb	A	T	2: 131,021,477 (GRCm39)	I107K	probably damaging	Het
Cep135	T	G	5: 76,769,187 (GRCm39)	H612Q	possibly damaging	Het
Chd1l	A	T	3: 97,470,849 (GRCm39)	N815K	probably damaging	Het
Cldn20	C	T	17: 3,582,992 (GRCm39)	T55M	possibly damaging	Het
Depdc1a	A	T	3: 159,221,679 (GRCm39)	I208L	probably benign	Het
Dgkb	C	T	12: 38,134,223 (GRCm39)	A43V	possibly damaging	Het
Dgkb	C	T	12: 38,654,104 (GRCm39)	T741I	probably damaging	Het
Dhx16	A	G	17: 36,197,076 (GRCm39)	N653S	probably damaging	Het
Dnah5	T	A	15: 28,438,329 (GRCm39)	S3987T	probably benign	Het
Dnai4	T	C	4: 102,906,758 (GRCm39)	D685G	probably damaging	Het
Dst	T	A	1: 34,334,277 (GRCm39)	I4835N	probably damaging	Het
Esrrb	A	G	12: 86,561,114 (GRCm39)	I288V	probably damaging	Het
Fnta	C	T	8: 26,497,341 (GRCm39)	W169*	probably null	Het
Golga4	T	C	9: 118,365,860 (GRCm39)	L304P	probably damaging	Het
Hace1	A	G	10: 45,466,362 (GRCm39)		probably null	Het
Ino80b	G	T	6: 83,101,112 (GRCm39)		probably null	Het
Kcmf1	G	A	6: 72,820,082 (GRCm39)	R306C	probably damaging	Het
Lrrc46	G	A	11: 96,927,305 (GRCm39)	T92I	possibly damaging	Het
Man2b1	T	C	8: 85,824,076 (GRCm39)	V991A	possibly damaging	Het
Mga	A	G	2: 119,776,776 (GRCm39)	N1770S	probably damaging	Het
Mgat4e	T	C	1: 134,468,944 (GRCm39)	T367A	probably benign	Het
Mtr	A	G	13: 12,202,992 (GRCm39)	S1204P	probably damaging	Het
Myo15a	G	A	11: 60,417,487 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,560,585 (GRCm39)	S74P	probably damaging	Het
Noct	T	C	3: 51,157,508 (GRCm39)	V282A	possibly damaging	Het
Nol11	A	T	11: 107,071,912 (GRCm39)	I227K	possibly damaging	Het
Nsd3	T	A	8: 26,130,646 (GRCm39)	S4T	probably damaging	Het
Or5m10b	T	A	2: 85,699,714 (GRCm39)	Y259*	probably null	Het
Or5p64	A	G	7: 107,855,109 (GRCm39)	S79P	probably damaging	Het
Pds5a	T	A	5: 65,809,782 (GRCm39)	L393F	probably damaging	Het
Prex2	C	T	1: 11,336,259 (GRCm39)	R1486C	probably damaging	Het
Rc3h2	T	C	2: 37,272,028 (GRCm39)	T768A	probably damaging	Het
Rin3	A	T	12: 102,335,584 (GRCm39)	E418D	probably benign	Het
Rnf214	G	T	9: 45,778,886 (GRCm39)	T586N	probably damaging	Het
Samd4b	A	G	7: 28,101,285 (GRCm39)	S667P	probably damaging	Het
Sec14l2	T	C	11: 4,061,161 (GRCm39)	Y100C	probably damaging	Het
Slc46a2	T	C	4: 59,914,077 (GRCm39)	E282G	probably benign	Het
Themis	A	C	10: 28,657,762 (GRCm39)	N110T	possibly damaging	Het
Tln1	C	A	4: 43,543,165 (GRCm39)	S1333I	probably benign	Het
Tmem53	T	C	4: 117,125,625 (GRCm39)	V224A	possibly damaging	Het
Tmtc4	T	A	14: 123,163,391 (GRCm39)	K664N	possibly damaging	Het
Tnni3k	T	C	3: 154,674,922 (GRCm39)	D201G	probably damaging	Het
Tnxb	A	G	17: 34,912,898 (GRCm39)	E1681G	probably damaging	Het
Trhde	A	T	10: 114,340,103 (GRCm39)	D567E	probably damaging	Het
Tsc2	T	C	17: 24,828,101 (GRCm39)	M788V	probably benign	Het
Ube3a	A	G	7: 58,926,650 (GRCm39)	Y476C	probably damaging	Het
Ubiad1	T	C	4: 148,520,682 (GRCm39)	N314S	possibly damaging	Het
Unc79	T	A	12: 103,139,771 (GRCm39)	N2375K	probably damaging	Het
Vmn2r107	A	T	17: 20,595,939 (GRCm39)	I831F	probably damaging	Het
Vwa3b	T	A	1: 37,124,367 (GRCm39)	C322S	probably benign	Het
Wnk1	A	T	6: 119,939,916 (GRCm39)	H238Q	probably benign	Het
Wnk2	A	G	13: 49,300,081 (GRCm39)	Y210H	probably damaging	Het
Wwc2	T	C	8: 48,304,943 (GRCm39)	D894G	unknown	Het
Yes1	T	A	5: 32,810,381 (GRCm39)	F180Y	probably damaging	Het
Yju2b	T	C	8: 84,985,318 (GRCm39)	E317G	probably benign	Het
Zbtb46	T	C	2: 181,033,062 (GRCm39)	Y533C	probably damaging	Het
Zzef1	T	C	11: 72,802,090 (GRCm39)		probably null	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
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
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'- TTGCTTACACACTCAGCAGAG -3'
(R):5'- CAGGCTGATTTTGGTCTATCTGAGC -3'

Sequencing Primer
(F):5'- GCTTACACACTCAGCAGAGATTTTG -3'
(R):5'- TGGTCTATCTGAGCAGAAACAC -3'

Posted On

2018-05-21