Mutagenetix > Incidental Mutation

Incidental Mutation 'R3964:Zfp456'

312273

Institutional Source

Beutler Lab

Gene Symbol

Zfp456

Ensembl Gene

ENSMUSG00000078995

Gene Name

zinc finger protein 456

Synonyms

Rslcan-13

MMRRC Submission

040933-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R3964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67511700-67523872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67514900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 269 (T269A)

Ref Sequence

ENSEMBL: ENSMUSP00000059686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057070] [ENSMUST00000166080] [ENSMUST00000172266]

AlphaFold

B2RUK9

Predicted Effect

probably benign
Transcript: ENSMUST00000057070
AA Change: T269A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000059686
Gene: ENSMUSG00000078995
AA Change: T269A

Domain	Start	End	E-Value	Type
KRAB	2	62	3.07e-33	SMART
ZnF_C2H2	106	128	1.92e-2	SMART
ZnF_C2H2	134	156	5.77e0	SMART
ZnF_C2H2	162	184	1.28e-3	SMART
ZnF_C2H2	190	212	2.36e-2	SMART
ZnF_C2H2	246	268	2.17e-1	SMART
ZnF_C2H2	274	296	7.37e-4	SMART
ZnF_C2H2	302	324	6.32e-3	SMART
ZnF_C2H2	330	352	2.4e-3	SMART
ZnF_C2H2	358	380	8.94e-3	SMART
ZnF_C2H2	386	408	1.92e-2	SMART
ZnF_C2H2	414	436	7.9e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165145

Predicted Effect

probably benign
Transcript: ENSMUST00000166080

SMART Domains

Protein: ENSMUSP00000126669
Gene: ENSMUSG00000098692

Domain	Start	End	E-Value	Type
KRAB	2	62	3.07e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172266

SMART Domains

Protein: ENSMUSP00000130928
Gene: ENSMUSG00000078995

Domain	Start	End	E-Value	Type
KRAB	2	62	3.07e-33	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	A	12: 81,607,583 (GRCm39)	A60S	possibly damaging	Het
Arpp21	C	G	9: 111,894,844 (GRCm39)	V805L	probably damaging	Het
C1galt1c1	A	T	X: 37,720,453 (GRCm39)	V181E	probably benign	Het
Cdh18	A	T	15: 23,474,187 (GRCm39)	T686S	probably benign	Het
Cemip	T	A	7: 83,600,717 (GRCm39)	Y968F	probably benign	Het
Cep70	T	A	9: 99,180,587 (GRCm39)	F581I	probably damaging	Het
Ctc1	T	A	11: 68,921,954 (GRCm39)	V800D	probably damaging	Het
Cttnbp2nl	T	C	3: 104,913,321 (GRCm39)	K188E	probably damaging	Het
Cux1	A	G	5: 136,311,796 (GRCm39)	V1180A	probably damaging	Het
Cux2	G	T	5: 122,025,539 (GRCm39)	S43*	probably null	Het
Dhx57	T	A	17: 80,572,541 (GRCm39)	K711*	probably null	Het
Ehbp1l1	C	T	19: 5,760,601 (GRCm39)		probably null	Het
Esyt3	T	A	9: 99,202,375 (GRCm39)	D512V	probably damaging	Het
Gadl1	T	C	9: 115,794,676 (GRCm39)	S284P	probably damaging	Het
Gm14137	T	A	2: 119,005,497 (GRCm39)	S19T	probably benign	Het
Gpr141b	A	G	13: 19,913,614 (GRCm39)		noncoding transcript	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gsdmc2	A	G	15: 63,721,683 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,449,320 (GRCm39)	T110A	probably benign	Het
Il23r	G	A	6: 67,443,281 (GRCm39)	T274I	probably benign	Het
Inhbb	C	A	1: 119,345,291 (GRCm39)	G333W	probably damaging	Het
Kcnb1	C	T	2: 166,946,412 (GRCm39)	C812Y	probably damaging	Het
Lrp1b	A	G	2: 41,202,482 (GRCm39)		probably benign	Het
Med31	C	T	11: 72,102,755 (GRCm39)	A118T	probably benign	Het
Mov10l1	A	G	15: 88,896,366 (GRCm39)	I737V	probably benign	Het
Mrs2	A	G	13: 25,185,746 (GRCm39)	I142T	possibly damaging	Het
Ms4a6b	T	C	19: 11,499,098 (GRCm39)	S71P	probably benign	Het
Muc2	G	A	7: 141,286,233 (GRCm39)	R120H	probably benign	Het
Muc5b	A	T	7: 141,420,705 (GRCm39)	I4191F	possibly damaging	Het
Myrf	T	C	19: 10,196,979 (GRCm39)	E267G	probably benign	Het
Nfatc2	C	T	2: 168,346,469 (GRCm39)	S875N	probably benign	Het
Nmi	T	C	2: 51,846,081 (GRCm39)	E67G	possibly damaging	Het
Nrap	T	C	19: 56,330,576 (GRCm39)	S1126G	probably damaging	Het
Nucb2	A	G	7: 116,128,110 (GRCm39)	E273G	probably damaging	Het
Or10g9	A	T	9: 39,911,767 (GRCm39)	V252E	possibly damaging	Het
Or1j4	A	G	2: 36,740,729 (GRCm39)	T224A	probably benign	Het
Or8b1b	T	C	9: 38,375,979 (GRCm39)	I214T	probably benign	Het
Or8b51	G	A	9: 38,569,023 (GRCm39)	L222F	probably benign	Het
Pcdhga12	A	T	18: 37,900,254 (GRCm39)	Q362L	probably benign	Het
Peak1	C	T	9: 56,167,263 (GRCm39)	E222K	probably damaging	Het
Pik3r1	T	C	13: 101,825,193 (GRCm39)	E458G	possibly damaging	Het
Pls1	T	C	9: 95,667,665 (GRCm39)	Q81R	probably benign	Het
Plxdc2	T	A	2: 16,665,651 (GRCm39)	F284I	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pole	A	G	5: 110,460,648 (GRCm39)	K1143E	probably damaging	Het
Ppfia4	A	T	1: 134,250,754 (GRCm39)	D478E	probably benign	Het
Ptprd	A	G	4: 75,978,073 (GRCm39)		probably benign	Het
Ptprj	A	G	2: 90,298,785 (GRCm39)	I315T	probably benign	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Rnf13	G	A	3: 57,676,533 (GRCm39)	G63S	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Shld2	T	A	14: 33,981,644 (GRCm39)	Q498L	probably damaging	Het
Slc50a1	T	C	3: 89,176,093 (GRCm39)	I151V	probably benign	Het
Snx27	T	A	3: 94,438,613 (GRCm39)	R207S	probably damaging	Het
Sos1	C	T	17: 80,762,608 (GRCm39)	R73H	probably damaging	Het
Tbc1d9b	A	G	11: 50,059,523 (GRCm39)	E975G	possibly damaging	Het
Tbccd1	A	G	16: 22,660,523 (GRCm39)	S98P	probably damaging	Het
Timd5	T	A	11: 46,426,340 (GRCm39)	V149D	possibly damaging	Het
Tmx4	T	C	2: 134,441,981 (GRCm39)	I206V	possibly damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Usp19	T	A	9: 108,375,228 (GRCm39)	V818E	probably damaging	Het
Wdr38	A	G	2: 38,889,362 (GRCm39)	Y51C	probably damaging	Het
Zfp628	T	C	7: 4,924,744 (GRCm39)	S989P	probably benign	Het

Other mutations in Zfp456

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Zfp456	APN	13	67,515,272 (GRCm39)	missense	probably benign	0.06
IGL03200:Zfp456	APN	13	67,514,596 (GRCm39)	missense	probably benign
IGL03406:Zfp456	APN	13	67,514,450 (GRCm39)	missense	probably damaging	0.98
R0667:Zfp456	UTSW	13	67,514,861 (GRCm39)	missense	probably benign	0.00
R0729:Zfp456	UTSW	13	67,514,663 (GRCm39)	missense	probably damaging	1.00
R1731:Zfp456	UTSW	13	67,514,674 (GRCm39)	missense	probably benign	0.39
R1832:Zfp456	UTSW	13	67,515,482 (GRCm39)	missense	probably benign	0.09
R2011:Zfp456	UTSW	13	67,514,993 (GRCm39)	nonsense	probably null
R2022:Zfp456	UTSW	13	67,514,616 (GRCm39)	nonsense	probably null
R2023:Zfp456	UTSW	13	67,514,616 (GRCm39)	nonsense	probably null
R2438:Zfp456	UTSW	13	67,515,073 (GRCm39)	missense	probably damaging	1.00
R2516:Zfp456	UTSW	13	67,510,491 (GRCm39)	missense	probably benign	0.00
R2896:Zfp456	UTSW	13	67,515,416 (GRCm39)	missense	possibly damaging	0.52
R4930:Zfp456	UTSW	13	67,515,065 (GRCm39)	missense	probably benign
R4971:Zfp456	UTSW	13	67,514,995 (GRCm39)	missense	probably benign	0.31
R5357:Zfp456	UTSW	13	67,520,328 (GRCm39)	missense	possibly damaging	0.71
R5754:Zfp456	UTSW	13	67,514,359 (GRCm39)	missense	probably benign	0.40
R5795:Zfp456	UTSW	13	67,515,039 (GRCm39)	missense	probably benign
R6339:Zfp456	UTSW	13	67,510,483 (GRCm39)	nonsense	probably null
R6904:Zfp456	UTSW	13	67,514,384 (GRCm39)	missense	probably benign	0.44
R7071:Zfp456	UTSW	13	67,520,896 (GRCm39)	missense	probably damaging	1.00
R7690:Zfp456	UTSW	13	67,514,913 (GRCm39)	missense	probably damaging	1.00
R8228:Zfp456	UTSW	13	67,514,533 (GRCm39)	missense	probably damaging	1.00
R8410:Zfp456	UTSW	13	67,520,915 (GRCm39)	missense	probably damaging	1.00
R8507:Zfp456	UTSW	13	67,515,108 (GRCm39)	missense	probably damaging	1.00
R8745:Zfp456	UTSW	13	67,515,373 (GRCm39)	missense	possibly damaging	0.77
R8928:Zfp456	UTSW	13	67,514,603 (GRCm39)	missense	probably benign	0.00
R9331:Zfp456	UTSW	13	67,514,389 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GATGTCGTACAAAGCATGAGTATGA -3'
(R):5'- GGCCTTCAGTACTCGCTCAT -3'

Sequencing Primer
(F):5'- ATGCTCCTGAAGACTTGCAG -3'
(R):5'- GAATTCATTCTGGAGAGAAACCC -3'

Posted On

2015-04-29