Mutagenetix > Incidental Mutation

Incidental Mutation 'R8928:Zfp456'

692985

Institutional Source

Beutler Lab

Gene Symbol

Zfp456

Ensembl Gene

ENSMUSG00000078995

Gene Name

zinc finger protein 456

Synonyms

Rslcan-13

MMRRC Submission

068772-MU

Accession Numbers

Essential gene?

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

Stock #

R8928 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67511700-67523872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67514603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 368 (R368C)

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: R368C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000059686
Gene: ENSMUSG00000078995
AA Change: R368C

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	A	1: 179,596,626 (GRCm39)	S1056I	possibly damaging	Het
Ajm1	A	G	2: 25,468,577 (GRCm39)	Y445H	possibly damaging	Het
Akap13	T	A	7: 75,259,606 (GRCm39)	D743E	probably benign	Het
Alas1	T	A	9: 106,118,513 (GRCm39)	H203L	probably benign	Het
Ankfn1	G	A	11: 89,429,279 (GRCm39)	T35I	possibly damaging	Het
Ankrd11	C	T	8: 123,622,718 (GRCm39)	R378K	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Cabp7	T	A	11: 4,696,640 (GRCm39)	I30F	possibly damaging	Het
Ccdc113	T	C	8: 96,267,584 (GRCm39)		probably null	Het
Ccdc162	T	A	10: 41,462,245 (GRCm39)		probably benign	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cep85	G	T	4: 133,859,715 (GRCm39)	H651Q	probably benign	Het
Cfap43	T	A	19: 47,804,399 (GRCm39)	I266L	probably benign	Het
Crybg3	T	C	16: 59,315,123 (GRCm39)	T1179A	probably benign	Het
Crybg3	A	G	16: 59,376,715 (GRCm39)	V1513A	probably benign	Het
Csmd2	G	T	4: 128,369,582 (GRCm39)	V1905L		Het
D630003M21Rik	T	C	2: 158,059,447 (GRCm39)	E151G	probably damaging	Het
Dnah10	A	T	5: 124,866,828 (GRCm39)	Y2306F	probably damaging	Het
Dpy19l4	A	T	4: 11,304,674 (GRCm39)		probably benign	Het
Dsc1	G	T	18: 20,243,225 (GRCm39)	T76K	probably benign	Het
Egfem1	A	C	3: 29,744,561 (GRCm39)	*591C	probably null	Het
Elapor2	T	A	5: 9,496,979 (GRCm39)	H814Q	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fn1	T	C	1: 71,641,777 (GRCm39)		probably benign	Het
Fsd2	T	C	7: 81,209,354 (GRCm39)	T163A	probably benign	Het
Gm45844	A	G	7: 7,281,094 (GRCm39)		probably benign	Het
Grid1	T	A	14: 35,302,723 (GRCm39)	V996D	probably benign	Het
Hepacam2	C	A	6: 3,467,623 (GRCm39)		probably null	Het
Hira	A	G	16: 18,716,537 (GRCm39)	T101A	probably benign	Het
Ighv8-9	T	A	12: 115,432,204 (GRCm39)	T36S	possibly damaging	Het
Lama5	A	T	2: 179,843,832 (GRCm39)	C413S	probably damaging	Het
Lpcat2b	G	T	5: 107,580,913 (GRCm39)	V81L	probably benign	Het
Map1b	C	G	13: 99,568,624 (GRCm39)	E1366Q	unknown	Het
Marchf4	C	A	1: 72,574,035 (GRCm39)	A88S	probably benign	Het
Mbnl2	A	G	14: 120,633,974 (GRCm39)	T324A	probably benign	Het
Mipol1	T	A	12: 57,507,651 (GRCm39)	M387K	probably benign	Het
Mtor	T	C	4: 148,623,356 (GRCm39)	S2069P	probably damaging	Het
Mycbp2	T	A	14: 103,393,781 (GRCm39)	T2927S	probably benign	Het
Nfatc1	A	T	18: 80,741,180 (GRCm39)	N273K	possibly damaging	Het
Or10p22	T	C	10: 128,826,317 (GRCm39)	C179R	probably damaging	Het
Or2i1	T	A	17: 37,507,861 (GRCm39)	T258S	probably damaging	Het
Or5k15	T	A	16: 58,709,750 (GRCm39)	T278S	possibly damaging	Het
Or5v1	A	T	17: 37,809,583 (GRCm39)	I14F	probably damaging	Het
Or7a36	A	G	10: 78,820,547 (GRCm39)	K308E		Het
Or8b49	A	T	9: 38,505,662 (GRCm39)	L48F	probably damaging	Het
Parp16	A	G	9: 65,133,396 (GRCm39)	D79G	probably benign	Het
Ppp4r3b	T	C	11: 29,144,598 (GRCm39)	V316A	probably benign	Het
Ptcd2	G	A	13: 99,476,505 (GRCm39)	T78I	probably damaging	Het
Rbpjl	A	G	2: 164,250,313 (GRCm39)	Y155C	probably damaging	Het
Slc5a7	G	T	17: 54,591,258 (GRCm39)	Q225K	possibly damaging	Het
Stom	T	C	2: 35,205,937 (GRCm39)	N264S	probably damaging	Het
Tbc1d2b	C	T	9: 90,108,190 (GRCm39)	E454K	probably damaging	Het
Tmem209	C	T	6: 30,489,365 (GRCm39)	C495Y	probably damaging	Het
Tnn	T	C	1: 159,953,099 (GRCm39)	D647G	probably damaging	Het
Vmn2r44	A	T	7: 8,381,101 (GRCm39)	V264E	probably damaging	Het
Wscd2	A	T	5: 113,715,401 (GRCm39)	I414F	possibly damaging	Het
Xkr5	A	G	8: 18,983,787 (GRCm39)	V585A	probably benign	Het
Zscan18	G	A	7: 12,509,120 (GRCm39)	Q127*	probably null	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
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
R9331:Zfp456	UTSW	13	67,514,389 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

Posted On

2022-01-20