Mutagenetix > Incidental Mutation

Incidental Mutation 'R0826:Zfp457'

78254

Institutional Source

Beutler Lab

Gene Symbol

Zfp457

Ensembl Gene

ENSMUSG00000055341

Gene Name

zinc finger protein 457

Synonyms

Rslcan-6

MMRRC Submission

039006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67440514-67454476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67441378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 399 (D399G)

Ref Sequence

ENSEMBL: ENSMUSP00000053879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049705] [ENSMUST00000224325]

AlphaFold

L7N1X4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049705
AA Change: D399G

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
AA Change: D399G

Domain	Start	End	E-Value	Type
KRAB	5	65	1.55e-29	SMART
ZnF_C2H2	81	103	2.75e-3	SMART
ZnF_C2H2	109	131	1.1e-2	SMART
ZnF_C2H2	165	187	3.63e-3	SMART
ZnF_C2H2	193	215	2.4e-3	SMART
ZnF_C2H2	221	243	1.12e-3	SMART
ZnF_C2H2	249	271	6.32e-3	SMART
ZnF_C2H2	277	299	6.32e-3	SMART
ZnF_C2H2	305	327	3.52e-1	SMART
ZnF_C2H2	333	355	3.89e-3	SMART
ZnF_C2H2	361	383	7.26e-3	SMART
ZnF_C2H2	389	411	1.2e-3	SMART
ZnF_C2H2	417	439	7.67e-2	SMART
ZnF_C2H2	445	467	1.05e1	SMART
ZnF_C2H2	473	495	3.11e-2	SMART
ZnF_C2H2	501	523	5.9e-3	SMART
ZnF_C2H2	529	551	9.08e-4	SMART
ZnF_C2H2	585	607	5.72e-1	SMART
transmembrane domain	624	646	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224325
AA Change: D303G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225090

Predicted Effect

probably benign
Transcript: ENSMUST00000225338

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 95.7%
20x: 86.3%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4931406C07Rik	T	C	9: 15,203,292 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,916,811 (GRCm39)	D727V	possibly damaging	Het
Anxa10	A	C	8: 62,529,318 (GRCm39)	L133*	probably null	Het
Arfgef3	G	A	10: 18,465,414 (GRCm39)	T2143I	probably damaging	Het
Arhgef17	T	C	7: 100,579,950 (GRCm39)	T333A	probably benign	Het
Arhgef40	A	G	14: 52,238,450 (GRCm39)	T1310A	probably benign	Het
Atg10	C	T	13: 91,084,705 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,492,169 (GRCm39)	F569S	probably damaging	Het
Baiap3	A	G	17: 25,464,203 (GRCm39)	W849R	possibly damaging	Het
Baz1a	A	T	12: 54,977,097 (GRCm39)	Y9*	probably null	Het
Catsperg2	C	T	7: 29,405,049 (GRCm39)	D702N	possibly damaging	Het
Clasrp	G	T	7: 19,318,226 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Col19a1	T	C	1: 24,565,467 (GRCm39)	K288R	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cttnbp2	A	G	6: 18,405,177 (GRCm39)		probably benign	Het
Dnah1	T	A	14: 31,025,864 (GRCm39)	I828F	probably benign	Het
Dpf2	G	T	19: 5,957,155 (GRCm39)	Q23K	probably damaging	Het
Dsc3	T	A	18: 20,114,229 (GRCm39)	I342F	probably damaging	Het
Enpp3	A	G	10: 24,671,614 (GRCm39)	L460P	probably damaging	Het
Epb41l2	A	G	10: 25,380,090 (GRCm39)	E871G	probably damaging	Het
Exoc2	T	C	13: 31,040,780 (GRCm39)		probably null	Het
Fam243	G	A	16: 92,118,075 (GRCm39)	S71L	probably benign	Het
Fpr-rs7	A	T	17: 20,333,888 (GRCm39)	S201T	probably benign	Het
Gtf2ird2	T	C	5: 134,245,797 (GRCm39)	F685S	probably damaging	Het
Helz2	C	T	2: 180,882,646 (GRCm39)	R49H	possibly damaging	Het
Ica1	A	G	6: 8,667,375 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,402,049 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kif21a	A	G	15: 90,881,744 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,013,216 (GRCm39)	C480*	probably null	Het
Lamc2	A	G	1: 153,027,828 (GRCm39)	S199P	probably damaging	Het
Lrfn3	T	C	7: 30,059,676 (GRCm39)	N183S	probably benign	Het
Lsm14a	C	A	7: 34,070,470 (GRCm39)		probably benign	Het
Mest	C	A	6: 30,742,813 (GRCm39)	H146Q	probably damaging	Het
Mmp27	T	C	9: 7,579,010 (GRCm39)	V339A	probably damaging	Het
Myo16	T	C	8: 10,426,285 (GRCm39)		probably benign	Het
Myoz1	C	T	14: 20,703,679 (GRCm39)		probably benign	Het
Nlrp5	A	G	7: 23,117,133 (GRCm39)	M286V	probably benign	Het
Optc	T	C	1: 133,832,893 (GRCm39)	K69R	probably benign	Het
Or13c3	C	T	4: 52,855,566 (GRCm39)	V316I	probably benign	Het
Or2y1c	A	T	11: 49,361,158 (GRCm39)	Y60F	probably damaging	Het
Or4a77	A	C	2: 89,487,181 (GRCm39)	N201K	possibly damaging	Het
Or8g18	C	T	9: 39,149,725 (GRCm39)	M1I	probably null	Het
Osbpl3	A	T	6: 50,323,357 (GRCm39)	M242K	probably damaging	Het
Pdzd9	T	A	7: 120,267,624 (GRCm39)	S64C	probably damaging	Het
Pik3cg	A	G	12: 32,245,672 (GRCm39)	S859P	possibly damaging	Het
Ppp1r12a	G	T	10: 108,066,414 (GRCm39)	A202S	possibly damaging	Het
Rab32	A	T	10: 10,426,611 (GRCm39)	F112I	possibly damaging	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rtn3	A	G	19: 7,445,245 (GRCm39)		probably benign	Het
Sbk1	C	T	7: 125,891,007 (GRCm39)	P147L	probably damaging	Het
Shpk	T	A	11: 73,094,857 (GRCm39)	M91K	probably damaging	Het
Slco6c1	C	T	1: 97,055,826 (GRCm39)	S25N	probably benign	Het
Snx2	A	T	18: 53,327,594 (GRCm39)	T107S	probably benign	Het
Tle2	G	A	10: 81,422,148 (GRCm39)	V397I	possibly damaging	Het
Tmem131l	T	C	3: 83,805,724 (GRCm39)	D1573G	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,708 (GRCm39)		probably benign	Het
Tpmt	T	C	13: 47,194,965 (GRCm39)	E36G	probably benign	Het
Trim30c	T	A	7: 104,032,688 (GRCm39)	T257S	probably benign	Het
Tsc2	A	G	17: 24,815,932 (GRCm39)	L150P	probably benign	Het
Upf3a	G	C	8: 13,848,338 (GRCm39)	G378A	possibly damaging	Het
Yeats2	A	T	16: 20,011,966 (GRCm39)	K514*	probably null	Het
Zfp11	A	G	5: 129,734,589 (GRCm39)	Y291H	probably benign	Het

Other mutations in Zfp457

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Zfp457	APN	13	67,442,330 (GRCm39)	missense	possibly damaging	0.46
IGL02259:Zfp457	APN	13	67,444,471 (GRCm39)	missense	possibly damaging	0.88
R0055:Zfp457	UTSW	13	67,442,098 (GRCm39)	missense	probably damaging	0.99
R0055:Zfp457	UTSW	13	67,442,098 (GRCm39)	missense	probably damaging	0.99
R0149:Zfp457	UTSW	13	67,440,710 (GRCm39)	missense	probably damaging	0.97
R0211:Zfp457	UTSW	13	67,441,211 (GRCm39)	missense	probably benign	0.01
R0211:Zfp457	UTSW	13	67,441,211 (GRCm39)	missense	probably benign	0.01
R0230:Zfp457	UTSW	13	67,442,180 (GRCm39)	missense	possibly damaging	0.91
R0270:Zfp457	UTSW	13	67,441,991 (GRCm39)	missense	probably damaging	1.00
R0361:Zfp457	UTSW	13	67,440,710 (GRCm39)	missense	probably damaging	0.97
R0561:Zfp457	UTSW	13	67,442,134 (GRCm39)	missense	probably damaging	1.00
R0679:Zfp457	UTSW	13	67,441,655 (GRCm39)	missense	probably damaging	1.00
R1136:Zfp457	UTSW	13	67,441,846 (GRCm39)	missense	probably damaging	1.00
R1175:Zfp457	UTSW	13	67,441,748 (GRCm39)	missense	probably damaging	1.00
R1523:Zfp457	UTSW	13	67,441,501 (GRCm39)	missense	probably damaging	1.00
R1616:Zfp457	UTSW	13	67,444,375 (GRCm39)	missense	possibly damaging	0.95
R2348:Zfp457	UTSW	13	67,441,468 (GRCm39)	missense	probably benign	0.33
R4930:Zfp457	UTSW	13	67,442,164 (GRCm39)	missense	probably damaging	1.00
R4964:Zfp457	UTSW	13	67,441,342 (GRCm39)	missense	probably damaging	1.00
R4966:Zfp457	UTSW	13	67,441,342 (GRCm39)	missense	probably damaging	1.00
R5040:Zfp457	UTSW	13	67,440,899 (GRCm39)	missense	probably benign	0.03
R5129:Zfp457	UTSW	13	67,441,420 (GRCm39)	missense	probably benign	0.00
R5714:Zfp457	UTSW	13	67,444,490 (GRCm39)	missense	possibly damaging	0.85
R6017:Zfp457	UTSW	13	67,441,763 (GRCm39)	missense	probably damaging	1.00
R6052:Zfp457	UTSW	13	67,442,015 (GRCm39)	missense	probably damaging	1.00
R6132:Zfp457	UTSW	13	67,441,360 (GRCm39)	nonsense	probably null
R6184:Zfp457	UTSW	13	67,440,976 (GRCm39)	missense	possibly damaging	0.89
R6313:Zfp457	UTSW	13	67,440,746 (GRCm39)	missense	probably damaging	1.00
R7038:Zfp457	UTSW	13	67,441,997 (GRCm39)	missense	probably benign	0.00
R7170:Zfp457	UTSW	13	67,442,241 (GRCm39)	nonsense	probably null
R7184:Zfp457	UTSW	13	67,442,065 (GRCm39)	missense	possibly damaging	0.69
R7859:Zfp457	UTSW	13	67,454,445 (GRCm39)	start gained	probably benign
R7973:Zfp457	UTSW	13	67,441,882 (GRCm39)	missense	probably benign	0.20
R8308:Zfp457	UTSW	13	67,441,663 (GRCm39)	missense	probably benign	0.00
R8346:Zfp457	UTSW	13	67,441,862 (GRCm39)	nonsense	probably null
R9114:Zfp457	UTSW	13	67,442,068 (GRCm39)	missense	probably benign	0.16
R9205:Zfp457	UTSW	13	67,441,965 (GRCm39)	missense	probably benign	0.00
R9525:Zfp457	UTSW	13	67,441,492 (GRCm39)	missense	probably damaging	1.00
R9765:Zfp457	UTSW	13	67,440,874 (GRCm39)	missense	probably benign	0.10

Predicted Primers

Posted On

2013-10-16