Mutagenetix > Incidental Mutation

Incidental Mutation 'R0679:Zfp457'

61726

Institutional Source

Beutler Lab

Gene Symbol

Zfp457

Ensembl Gene

ENSMUSG00000055341

Gene Name

zinc finger protein 457

Synonyms

Rslcan-6

MMRRC Submission

038864-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R0679 (G1)

Quality Score

125

Status

Not validated

Chromosome

Chromosomal Location

67440514-67454476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67441655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 211 (C211S)

Ref Sequence

ENSEMBL: ENSMUSP00000153220 (fasta)

Gene Model

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

AlphaFold

L7N1X4

Predicted Effect

probably damaging
Transcript: ENSMUST00000049705
AA Change: C307S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
AA Change: C307S

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

probably damaging
Transcript: ENSMUST00000224325
AA Change: C211S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225090

Predicted Effect

probably benign
Transcript: ENSMUST00000225338

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.5%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	G	A	5: 81,942,824 (GRCm39)	D1507N	probably damaging	Het
Cplane1	G	T	15: 8,252,606 (GRCm39)	V1943L	probably benign	Het
Cry2	A	G	2: 92,244,060 (GRCm39)	I371T	probably damaging	Het
L3mbtl3	T	A	10: 26,189,831 (GRCm39)	K478*	probably null	Het
Or5h26	G	A	16: 58,987,979 (GRCm39)	H176Y	probably damaging	Het
Plcg1	C	T	2: 160,598,830 (GRCm39)	P842S	probably damaging	Het
Ros1	T	C	10: 51,942,391 (GRCm39)	R2111G	possibly damaging	Het
Sox10	A	G	15: 79,040,788 (GRCm39)	S90P	probably benign	Het
Tbc1d32	A	C	10: 56,056,672 (GRCm39)	Y423D	probably damaging	Het
Utp15	A	T	13: 98,395,911 (GRCm39)	Y52N	probably benign	Het
Vps13b	T	G	15: 35,709,849 (GRCm39)	I1932S	possibly damaging	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
R0826:Zfp457	UTSW	13	67,441,378 (GRCm39)	missense	possibly damaging	0.85
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

2013-07-30