Mutagenetix > Incidental Mutation

Incidental Mutation 'R1457:Zfp57'

158614

Institutional Source

Beutler Lab

Gene Symbol

Zfp57

Ensembl Gene

ENSMUSG00000036036

Gene Name

zinc finger protein 57

Synonyms

G19

MMRRC Submission

039512-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.333) question?

Stock #

R1457 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37001163-37010635 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37006098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 20 (S20P)

Ref Sequence

ENSEMBL: ENSMUSP00000134024 (fasta)

Gene Model

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

AlphaFold

Q8C6P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000069250
AA Change: S23P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065811
Gene: ENSMUSG00000036036
AA Change: S23P

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: S20P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087414
Gene: ENSMUSG00000036036
AA Change: S20P

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 damaging
Transcript: ENSMUST00000172527
AA Change: S23P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134116
Gene: ENSMUSG00000036036
AA Change: S23P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000172540
AA Change: S20P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134024
Gene: ENSMUSG00000036036
AA Change: S20P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000172580
AA Change: S20P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133894
Gene: ENSMUSG00000036036
AA Change: S20P

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: 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: ENSMUST00000173921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174470

Predicted Effect

probably damaging
Transcript: ENSMUST00000174672
AA Change: S23P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133821
Gene: ENSMUSG00000036036
AA Change: S23P

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: ENSMUST00000174524
AA Change: S23P

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134418
Gene: ENSMUSG00000036036
AA Change: S23P

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

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.3%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	T	1: 37,626,012 (GRCm38)	Y268*	probably null	Het
Abca14	A	T	7: 120,289,460 (GRCm38)	I1210F	probably benign	Het
Ankrd17	T	C	5: 90,285,846 (GRCm38)	H688R	possibly damaging	Het
Arhgap24	T	A	5: 102,664,106 (GRCm38)	N66K	probably damaging	Het
Atp1a1	C	T	3: 101,590,466 (GRCm38)	G335D	probably damaging	Het
Cacna1g	C	T	11: 94,459,555 (GRCm38)	R488H	possibly damaging	Het
Cacna1h	A	T	17: 25,397,620 (GRCm38)	V149E	probably damaging	Het
Cd22	G	T	7: 30,873,170 (GRCm38)	P338Q	probably benign	Het
Cntln	G	T	4: 85,096,839 (GRCm38)	M1122I	probably benign	Het
Cntrl	A	G	2: 35,122,756 (GRCm38)	N302S	probably benign	Het
Cog8	T	C	8: 107,052,896 (GRCm38)	R250G	probably damaging	Het
Creld2	T	C	15: 88,823,753 (GRCm38)	C232R	probably damaging	Het
Cyp2b23	G	A	7: 26,673,149 (GRCm38)	P347L	probably damaging	Het
Dnah5	T	C	15: 28,403,542 (GRCm38)		probably null	Het
Eml6	C	T	11: 30,024,459 (GRCm38)	V40I	probably damaging	Het
Epb42	C	T	2: 121,029,967 (GRCm38)		probably null	Het
Fcrla	A	G	1: 170,921,004 (GRCm38)	L190P	probably damaging	Het
Galnt18	A	T	7: 111,779,428 (GRCm38)	Y40*	probably null	Het
Gdf7	A	T	12: 8,298,073 (GRCm38)	M416K	probably damaging	Het
Gm11232	T	A	4: 71,756,919 (GRCm38)		probably null	Het
Gpam	T	A	19: 55,088,176 (GRCm38)	N198Y	probably damaging	Het
Grip1	C	T	10: 119,986,350 (GRCm38)	S327F	possibly damaging	Het
Hey2	C	T	10: 30,834,356 (GRCm38)	A134T	probably benign	Het
Kat6a	T	C	8: 22,938,652 (GRCm38)	I1341T	probably benign	Het
Kcnd3	T	C	3: 105,668,186 (GRCm38)	L542P	probably benign	Het
Lars	G	A	18: 42,210,050 (GRCm38)	R1101C	probably damaging	Het
Lman2	T	C	13: 55,351,251 (GRCm38)	D234G	probably benign	Het
Map3k19	A	C	1: 127,817,898 (GRCm38)	I1273R	probably damaging	Het
Matn1	T	A	4: 130,950,019 (GRCm38)	F180I	possibly damaging	Het
Meikin	T	A	11: 54,370,941 (GRCm38)	L61*	probably null	Het
Mroh2b	G	T	15: 4,925,684 (GRCm38)	D720Y	probably damaging	Het
Myh13	T	C	11: 67,331,046 (GRCm38)	I199T	probably damaging	Het
Myh4	T	A	11: 67,248,461 (GRCm38)	S535T	probably damaging	Het
Myo5a	T	C	9: 75,213,065 (GRCm38)	M1715T	probably damaging	Het
Nat8	A	T	6: 85,830,989 (GRCm38)	V54D	probably damaging	Het
Nbea	A	G	3: 56,085,327 (GRCm38)	V286A	probably damaging	Het
Ndnf	A	G	6: 65,704,014 (GRCm38)	K426E	possibly damaging	Het
Nup210l	T	A	3: 90,190,972 (GRCm38)	N1410K	possibly damaging	Het
Oca2	A	T	7: 56,321,521 (GRCm38)	T399S	probably damaging	Het
Olfr1045	A	G	2: 86,198,252 (GRCm38)	S167P	probably damaging	Het
Olfr118	A	T	17: 37,672,925 (GRCm38)	K301*	probably null	Het
Olfr250	G	A	9: 38,368,196 (GRCm38)	V217I	probably benign	Het
Olfr366	A	C	2: 37,219,659 (GRCm38)	T57P	possibly damaging	Het
Olfr644	A	T	7: 104,068,459 (GRCm38)	C191S	probably damaging	Het
Olfr652	T	A	7: 104,565,071 (GRCm38)	N283K	probably damaging	Het
Otogl	A	C	10: 107,878,152 (GRCm38)		probably null	Het
Pde4b	C	T	4: 102,605,176 (GRCm38)	T511I	probably damaging	Het
Proser3	A	G	7: 30,539,747 (GRCm38)		probably null	Het
Psmd12	G	A	11: 107,479,646 (GRCm38)	V24M	probably damaging	Het
Rbm17	A	T	2: 11,593,461 (GRCm38)	M170K	probably benign	Het
Rims2	C	T	15: 39,511,314 (GRCm38)	T1064I	possibly damaging	Het
Ripor3	C	T	2: 167,992,653 (GRCm38)	V281M	probably damaging	Het
Rreb1	C	A	13: 37,946,928 (GRCm38)	Q1353K	possibly damaging	Het
Sgo2a	A	G	1: 58,015,806 (GRCm38)	D383G	probably benign	Het
Sik3	C	T	9: 46,221,148 (GRCm38)	T1346M	probably damaging	Het
Slx1b	A	T	7: 126,692,796 (GRCm38)	V63E	probably damaging	Het
Son	A	G	16: 91,657,086 (GRCm38)	D907G	probably damaging	Het
Src	G	A	2: 157,469,212 (GRCm38)	V401M	probably damaging	Het
St3gal4	T	C	9: 35,054,757 (GRCm38)	K24E	possibly damaging	Het
Stat6	A	G	10: 127,658,245 (GRCm38)	K647R	probably damaging	Het
Tbl1xr1	G	A	3: 22,193,169 (GRCm38)		probably null	Het
Tlk2	G	A	11: 105,256,952 (GRCm38)		probably null	Het
Tmbim6	T	A	15: 99,401,615 (GRCm38)	I3K	probably benign	Het
Tmeff2	A	T	1: 51,181,867 (GRCm38)	I334F	probably damaging	Het
Ttn	T	C	2: 76,840,315 (GRCm38)		probably null	Het
Ubl7	T	A	9: 57,914,611 (GRCm38)	I81N	probably damaging	Het
Ugt1a10	A	G	1: 88,055,711 (GRCm38)	Y77C	probably damaging	Het
Uqcrfs1	A	G	13: 30,540,907 (GRCm38)	C217R	probably damaging	Het
Usp50	T	C	2: 126,761,634 (GRCm38)	T331A	probably benign	Het
Vmn1r65	A	G	7: 6,009,157 (GRCm38)	V26A	probably benign	Het
Wdfy3	A	C	5: 101,917,579 (GRCm38)	V1241G	possibly damaging	Het
Wtap	A	C	17: 12,981,744 (GRCm38)		probably null	Het
Zbtb40	C	A	4: 136,984,837 (GRCm38)	A1187S	possibly damaging	Het
Zfp592	A	G	7: 81,024,479 (GRCm38)	D397G	probably damaging	Het
Zfp747	A	T	7: 127,374,504 (GRCm38)	S165T	probably benign	Het
Zfp949	C	T	9: 88,569,838 (GRCm38)	T487I	probably damaging	Het
Zscan4d	A	G	7: 11,164,994 (GRCm38)	C119R	probably damaging	Het

Other mutations in Zfp57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Zfp57	APN	17	37,009,622 (GRCm38)	missense	possibly damaging	0.79
IGL02172:Zfp57	APN	17	37,009,589 (GRCm38)	missense	possibly damaging	0.90
IGL02351:Zfp57	APN	17	37,010,027 (GRCm38)	missense	probably benign	0.04
IGL02358:Zfp57	APN	17	37,010,027 (GRCm38)	missense	probably benign	0.04
IGL02530:Zfp57	APN	17	37,006,164 (GRCm38)	missense	probably damaging	1.00
R0788:Zfp57	UTSW	17	37,006,200 (GRCm38)	unclassified	probably benign
R0891:Zfp57	UTSW	17	37,006,176 (GRCm38)	missense	probably damaging	0.97
R1898:Zfp57	UTSW	17	37,009,758 (GRCm38)	missense	possibly damaging	0.84
R2064:Zfp57	UTSW	17	37,009,676 (GRCm38)	missense	possibly damaging	0.80
R4794:Zfp57	UTSW	17	37,010,130 (GRCm38)	missense	possibly damaging	0.52
R6200:Zfp57	UTSW	17	37,010,411 (GRCm38)	missense	probably benign
R6404:Zfp57	UTSW	17	37,009,824 (GRCm38)	missense	probably damaging	1.00
R6467:Zfp57	UTSW	17	37,006,050 (GRCm38)	missense	possibly damaging	0.84
R7942:Zfp57	UTSW	17	37,009,674 (GRCm38)	missense	probably damaging	1.00
R8051:Zfp57	UTSW	17	37,009,893 (GRCm38)	missense	probably damaging	0.98
R8296:Zfp57	UTSW	17	37,010,244 (GRCm38)	missense	probably benign	0.00
R8532:Zfp57	UTSW	17	37,009,901 (GRCm38)	missense	possibly damaging	0.94
R8679:Zfp57	UTSW	17	37,010,046 (GRCm38)	missense	probably damaging	0.97
R8768:Zfp57	UTSW	17	37,006,185 (GRCm38)	missense	probably benign	0.09
R9120:Zfp57	UTSW	17	37,009,758 (GRCm38)	missense	probably benign	0.03
R9412:Zfp57	UTSW	17	37,009,922 (GRCm38)	missense	probably benign	0.36
Z1088:Zfp57	UTSW	17	37,010,138 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCACCTTGGAATCCTTCATAGGCTC -3'
(R):5'- TTTTACCCCGGAACTTTGTGACTCAG -3'

Sequencing Primer
(F):5'- tcctctcccctcccctc -3'
(R):5'- TGTGACTCAGATCTTTCAGGC -3'

Posted On

2014-03-14