Mutagenetix > Incidental Mutation

Incidental Mutation 'R0667:Zfp456'

218556

Institutional Source

Beutler Lab

Gene Symbol

Zfp456

Ensembl Gene

ENSMUSG00000078995

Gene Name

zinc finger protein 456

Synonyms

Rslcan-13

MMRRC Submission

038852-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R0667 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

67511700-67523872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67514861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 282 (C282S)

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: C282S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000059686
Gene: ENSMUSG00000078995
AA Change: C282S

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: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	T	11: 110,218,637 (GRCm39)	N76K	probably benign	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Atad2	A	G	15: 57,962,115 (GRCm39)	S1143P	probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Cand1	A	G	10: 119,052,425 (GRCm39)	S234P	probably benign	Het
Cd200	T	A	16: 45,215,220 (GRCm39)	I144L	probably benign	Het
Cep76	A	T	18: 67,767,848 (GRCm39)	L228Q	possibly damaging	Het
Col12a1	A	G	9: 79,535,744 (GRCm39)	L2584S	probably damaging	Het
Col6a3	A	C	1: 90,755,823 (GRCm39)	D155E	probably damaging	Het
Col6a4	G	A	9: 105,907,158 (GRCm39)		probably benign	Het
Dsg2	A	C	18: 20,706,556 (GRCm39)	D24A	possibly damaging	Het
Gm5901	G	A	7: 105,026,697 (GRCm39)	S155N	possibly damaging	Het
Hkdc1	T	C	10: 62,247,644 (GRCm39)		probably benign	Het
Kansl1	A	G	11: 104,234,364 (GRCm39)	V714A	probably benign	Het
Kcnh1	T	A	1: 192,188,346 (GRCm39)	S936T	probably benign	Het
Klhdc3	A	T	17: 46,988,151 (GRCm39)	F205I	probably benign	Het
Krt31	T	A	11: 99,938,951 (GRCm39)	H290L	probably benign	Het
Lama2	T	A	10: 27,220,406 (GRCm39)		probably null	Het
Mep1a	T	G	17: 43,789,081 (GRCm39)	D565A	probably benign	Het
Mgme1	T	A	2: 144,120,907 (GRCm39)		probably benign	Het
Mtf2	C	T	5: 108,252,369 (GRCm39)	T409I	probably damaging	Het
Mylk3	A	G	8: 86,081,794 (GRCm39)		probably null	Het
Myo1c	A	G	11: 75,559,338 (GRCm39)	E650G	probably damaging	Het
Nipbl	A	C	15: 8,390,488 (GRCm39)	D260E	possibly damaging	Het
Nufip2	T	A	11: 77,582,839 (GRCm39)	V251D	possibly damaging	Het
Or2n1e	C	A	17: 38,586,048 (GRCm39)	P129T	probably damaging	Het
Or4a2	T	C	2: 89,248,032 (GRCm39)	I242V	probably benign	Het
Or7g35	T	A	9: 19,496,743 (GRCm39)	N303K	probably benign	Het
Osm	G	T	11: 4,189,918 (GRCm39)	R234L	possibly damaging	Het
Pabpc1	G	A	15: 36,598,275 (GRCm39)	A515V	probably benign	Het
Piwil1	T	A	5: 128,818,542 (GRCm39)		probably null	Het
Pld1	A	G	3: 28,133,327 (GRCm39)		probably null	Het
Plekhg3	C	T	12: 76,623,372 (GRCm39)	R871C	probably damaging	Het
Ppfia2	A	T	10: 106,749,555 (GRCm39)	Y1147F	probably damaging	Het
Prmt3	A	G	7: 49,441,743 (GRCm39)	Y240C	probably damaging	Het
Prr36	G	T	8: 4,266,311 (GRCm39)		probably benign	Het
Ptprd	A	G	4: 75,875,583 (GRCm39)	I908T	probably damaging	Het
Sae1	A	T	7: 16,102,457 (GRCm39)	N172K	probably damaging	Het
Satb1	T	G	17: 52,089,889 (GRCm39)	Q319H	probably damaging	Het
Scart2	C	G	7: 139,841,450 (GRCm39)	S251R	possibly damaging	Het
Scn2a	A	T	2: 65,582,340 (GRCm39)	I1563F	possibly damaging	Het
Scn3a	C	A	2: 65,314,755 (GRCm39)	R1102L	probably null	Het
Serpinb9b	T	A	13: 33,216,909 (GRCm39)	L60*	probably null	Het
Setd1a	A	G	7: 127,385,765 (GRCm39)	D281G	probably damaging	Het
Slc8a1	C	A	17: 81,956,310 (GRCm39)	V243F	probably damaging	Het
Tgfbr3	A	T	5: 107,325,716 (GRCm39)	H115Q	probably benign	Het
Tiam1	C	A	16: 89,694,872 (GRCm39)	S195I	probably damaging	Het
Tjp2	A	G	19: 24,086,113 (GRCm39)	V803A	probably benign	Het
Ttc5	T	A	14: 51,003,415 (GRCm39)	Q423L	probably benign	Het
Tyk2	A	C	9: 21,020,167 (GRCm39)	V997G	probably damaging	Het
Uhrf1	T	C	17: 56,617,677 (GRCm39)	V133A	probably benign	Het
Vmn2r107	A	C	17: 20,575,916 (GRCm39)	Y82S	possibly damaging	Het
Vmn2r93	T	C	17: 18,546,503 (GRCm39)	F792L	probably damaging	Het
Vps13c	G	A	9: 67,858,855 (GRCm39)	W2768*	probably null	Het
Zhx1	T	C	15: 57,916,561 (GRCm39)	N562D	possibly damaging	Het
Zmynd15	G	T	11: 70,355,944 (GRCm39)	G481C	probably 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
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
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'- AACTGTCATGTGTCGAGTCAGGC -3'
(R):5'- AGATTGTGTGAAAAGACTTTCCCCTCC -3'

Sequencing Primer
(F):5'- agggatgagcgataacgaaag -3'
(R):5'- actttcccctcctctacctc -3'

Posted On

2014-08-18