Mutagenetix > Incidental Mutation

Incidental Mutation 'R4971:Zfp456'

384465

Institutional Source

Beutler Lab

Gene Symbol

Zfp456

Ensembl Gene

ENSMUSG00000078995

Gene Name

zinc finger protein 456

Synonyms

Rslcan-13

MMRRC Submission

042566-MU

Accession Numbers

Essential gene?

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

Stock #

R4971 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67511700-67523872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67514995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 237 (E237G)

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: E237G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000059686
Gene: ENSMUSG00000078995
AA Change: E237G

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,524,190 (GRCm39)	F1147L	probably damaging	Het
Abca2	T	C	2: 25,332,006 (GRCm39)	S1373P	probably damaging	Het
Abca9	A	T	11: 110,042,874 (GRCm39)	S392T	probably benign	Het
Abcd2	T	C	15: 91,047,313 (GRCm39)	D580G	probably benign	Het
Actl9	T	A	17: 33,652,882 (GRCm39)	L314H	probably damaging	Het
Adamtsl1	T	C	4: 86,255,168 (GRCm39)	F746L	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Cdkl3	T	C	11: 51,901,995 (GRCm39)	V68A	possibly damaging	Het
Cnot1	A	G	8: 96,448,254 (GRCm39)	F2266S	probably damaging	Het
Colq	T	C	14: 31,267,034 (GRCm39)	R159G	probably damaging	Het
Ctse	A	T	1: 131,592,130 (GRCm39)	D152V	probably damaging	Het
Cul7	G	T	17: 46,970,045 (GRCm39)	M1011I	probably benign	Het
Cyb5r4	G	T	9: 86,939,224 (GRCm39)	V336L	possibly damaging	Het
Dync2h1	A	T	9: 7,131,949 (GRCm39)	H1619Q	probably benign	Het
Eif2ak1	A	G	5: 143,818,986 (GRCm39)	K216E	probably damaging	Het
F5	A	T	1: 164,021,755 (GRCm39)	H1410L	probably benign	Het
Frem2	T	C	3: 53,446,604 (GRCm39)	Y2388C	probably damaging	Het
Fsip2	C	T	2: 82,816,222 (GRCm39)	T3985M	probably benign	Het
Gak	T	C	5: 108,744,672 (GRCm39)	Y535C	probably damaging	Het
Gzmc	G	T	14: 56,469,826 (GRCm39)	P158Q	probably damaging	Het
Hook3	A	G	8: 26,572,607 (GRCm39)	Y135H	probably benign	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Ing4	A	T	6: 125,020,961 (GRCm39)	M28L	probably benign	Het
Irs3	T	A	5: 137,642,754 (GRCm39)	D228V	probably damaging	Het
Jade1	T	A	3: 41,555,836 (GRCm39)	I301N	probably damaging	Het
Kif13b	T	A	14: 64,995,011 (GRCm39)	M921K	possibly damaging	Het
Kmt2c	A	G	5: 25,515,870 (GRCm39)	S2658P	probably benign	Het
Map3k4	A	G	17: 12,468,382 (GRCm39)		probably null	Het
Map4k5	C	T	12: 69,899,493 (GRCm39)	V53I	possibly damaging	Het
Mdn1	T	C	4: 32,739,827 (GRCm39)	S3694P	probably damaging	Het
Mroh7	A	G	4: 106,548,749 (GRCm39)	V1038A	probably benign	Het
Muc5ac	T	C	7: 141,370,015 (GRCm39)	V3185A	possibly damaging	Het
Mup5	T	A	4: 61,751,297 (GRCm39)	N117I	probably benign	Het
Myo19	T	A	11: 84,783,023 (GRCm39)	M179K	probably damaging	Het
Myo1c	A	G	11: 75,562,414 (GRCm39)	Y902C	probably damaging	Het
Nf1	T	A	11: 79,335,469 (GRCm39)	I977K	probably damaging	Het
Nos1	T	C	5: 118,081,899 (GRCm39)	V1240A	probably benign	Het
Nr3c1	T	C	18: 39,619,930 (GRCm39)	D119G	probably damaging	Het
Oga	C	A	19: 45,758,485 (GRCm39)		probably null	Het
Or4c107	A	T	2: 88,788,863 (GRCm39)	N18Y	probably damaging	Het
Pdlim2	A	G	14: 70,405,208 (GRCm39)	V219A	probably damaging	Het
Pira13	T	A	7: 3,825,805 (GRCm39)	M355L	probably benign	Het
Polr1g	T	C	7: 19,091,487 (GRCm39)	N207D	probably benign	Het
Prdx1	T	C	4: 116,549,128 (GRCm39)		probably null	Het
Rbfox1	C	T	16: 7,111,952 (GRCm39)	R173C	probably damaging	Het
Rbp3	T	A	14: 33,676,427 (GRCm39)	V125D	probably damaging	Het
Resf1	T	C	6: 149,227,097 (GRCm39)		probably benign	Het
Rhot1	T	A	11: 80,124,300 (GRCm39)	I154K	probably damaging	Het
Runx1t1	C	T	4: 13,837,978 (GRCm39)	R129C	probably damaging	Het
Setbp1	A	G	18: 78,901,382 (GRCm39)	S762P	probably benign	Het
Slc13a3	A	G	2: 165,290,619 (GRCm39)	I67T	probably damaging	Het
Tbc1d2b	A	T	9: 90,100,923 (GRCm39)	M689K	probably benign	Het
Top2a	T	C	11: 98,884,667 (GRCm39)	Y1517C	probably damaging	Het
Txndc2	A	T	17: 65,945,849 (GRCm39)	N109K	probably damaging	Het
Tyk2	A	G	9: 21,031,797 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,096,838 (GRCm39)	L320*	probably null	Het
Zscan10	A	G	17: 23,826,147 (GRCm39)	E103G	possibly damaging	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
R3964:Zfp456	UTSW	13	67,514,900 (GRCm39)	missense	probably benign	0.03
R4930:Zfp456	UTSW	13	67,515,065 (GRCm39)	missense	probably benign
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'- CACACTTGTAGGGTTTGTCTTCAG -3'
(R):5'- ATCTCATCTTTGGCTCAACAGG -3'

Sequencing Primer
(F):5'- TCAGAGTGAAGGGTTTGATGTC -3'
(R):5'- GAGTGTCATAAGGCCTTCAGTACTC -3'

Posted On

2016-04-27