Mutagenetix > Incidental Mutations

Incidental Mutation 'R5795:Zfp456'

447190

Institutional Source

Beutler Lab

Gene Symbol

Zfp456

Ensembl Gene

ENSMUSG00000078995

Gene Name

zinc finger protein 456

Synonyms

Rslcan-13

MMRRC Submission

043386-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R5795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67362113-67375810 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67366920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 222 (D222E)

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: D222E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059686
Gene: ENSMUSG00000078995
AA Change: D222E

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acpp	A	G	9: 104,309,489	V261A	probably benign	Het
Adipor1	C	A	1: 134,424,903	N137K	probably damaging	Het
Ahnak	A	T	19: 9,012,382	K3677*	probably null	Het
Ankrd24	C	A	10: 81,645,103		probably benign	Het
Appl1	G	T	14: 26,942,816	P420Q	probably benign	Het
Bmp8b	C	A	4: 123,121,968	F249L	possibly damaging	Het
Brat1	G	T	5: 140,713,072	A275S	probably benign	Het
C5ar1	T	C	7: 16,248,394	K234E	possibly damaging	Het
Ccs	A	G	19: 4,833,339		probably null	Het
Chmp5	T	G	4: 40,950,562		probably null	Het
Chrna3	T	A	9: 55,015,268	T419S	probably benign	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 141,041,807		probably null	Het
Csf3	G	T	11: 98,702,027	C72F	probably damaging	Het
Dbndd1	A	G	8: 123,509,880	I83T	probably damaging	Het
Ercc6	A	G	14: 32,526,352	K287E	probably damaging	Het
F5	C	T	1: 164,152,009	T16I	probably benign	Het
Gif	A	G	19: 11,760,376	T384A	probably damaging	Het
Gm14085	T	C	2: 122,517,994	M274T	possibly damaging	Het
Hephl1	C	T	9: 15,069,760	G792E	probably damaging	Het
Hmmr	T	A	11: 40,721,906	D158V	probably damaging	Het
Hsd11b1	A	G	1: 193,240,632	S76P	possibly damaging	Het
Ilvbl	T	C	10: 78,577,144	S167P	probably benign	Het
Irf7	G	A	7: 141,265,116	P118L	probably damaging	Het
Lama1	A	G	17: 67,796,727	N1981S	probably benign	Het
Lrp4	A	G	2: 91,474,471	D224G	probably benign	Het
Mink1	T	C	11: 70,607,790	Y594H	possibly damaging	Het
Minpp1	G	A	19: 32,514,157	V412M	probably damaging	Het
Muc5b	G	A	7: 141,871,741	V4708M	possibly damaging	Het
Mycl	G	A	4: 122,996,622	E34K	probably damaging	Het
Oaf	T	A	9: 43,223,944	D179V	probably damaging	Het
Ogfod2	G	A	5: 124,114,761	G278D	probably damaging	Het
Olfr1448	A	G	19: 12,919,824	F162L	possibly damaging	Het
Olfr91	A	G	17: 37,093,769	L35P	probably damaging	Het
Paf1	T	G	7: 28,396,618	M250R	probably damaging	Het
Pcdh8	T	C	14: 79,770,980	T48A	possibly damaging	Het
Pdzph1	A	G	17: 58,885,867	V1096A	possibly damaging	Het
Polr3b	A	T	10: 84,628,252	E25D	probably benign	Het
Polr3b	T	C	10: 84,677,011	S586P	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Slc31a2	T	C	4: 62,297,052	V112A	probably damaging	Het
Spire1	A	T	18: 67,495,195	S412T	probably benign	Het
Tanc1	A	G	2: 59,807,582	T876A	possibly damaging	Het
Tango6	T	A	8: 106,718,077	L538H	probably damaging	Het
Tas2r125	G	A	6: 132,909,658	G3D	probably damaging	Het
Tbc1d32	A	T	10: 56,215,062	M125K	possibly damaging	Het
Traf5	T	C	1: 191,999,846	S345G	probably benign	Het
Ush2a	A	T	1: 188,443,397	I1231F	probably benign	Het
Vmn2r104	G	T	17: 20,030,110	T633N	probably benign	Het
Vmn2r104	A	G	17: 20,030,282	S576P	possibly damaging	Het
Vmn2r105	A	T	17: 20,228,736	C60S	probably benign	Het
Zfp316	A	T	5: 143,262,839	D217E	unknown	Het

Other mutations in Zfp456

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Zfp456	APN	13	67367153	missense	probably benign	0.06
IGL03200:Zfp456	APN	13	67366477	missense	probably benign
IGL03406:Zfp456	APN	13	67366331	missense	probably damaging	0.98
R0667:Zfp456	UTSW	13	67366742	missense	probably benign	0.00
R0729:Zfp456	UTSW	13	67366544	missense	probably damaging	1.00
R1731:Zfp456	UTSW	13	67366555	missense	probably benign	0.39
R1832:Zfp456	UTSW	13	67367363	missense	probably benign	0.09
R2011:Zfp456	UTSW	13	67366874	nonsense	probably null
R2022:Zfp456	UTSW	13	67366497	nonsense	probably null
R2023:Zfp456	UTSW	13	67366497	nonsense	probably null
R2438:Zfp456	UTSW	13	67366954	missense	probably damaging	1.00
R2516:Zfp456	UTSW	13	67362372	missense	probably benign	0.00
R2896:Zfp456	UTSW	13	67367297	missense	possibly damaging	0.52
R3964:Zfp456	UTSW	13	67366781	missense	probably benign	0.03
R4930:Zfp456	UTSW	13	67366946	missense	probably benign
R4971:Zfp456	UTSW	13	67366876	missense	probably benign	0.31
R5357:Zfp456	UTSW	13	67372209	missense	possibly damaging	0.71
R5754:Zfp456	UTSW	13	67366240	missense	probably benign	0.40
R6339:Zfp456	UTSW	13	67362364	nonsense	probably null
R6904:Zfp456	UTSW	13	67366265	missense	probably benign	0.44
R7071:Zfp456	UTSW	13	67372777	missense	probably damaging	1.00
R7690:Zfp456	UTSW	13	67366794	missense	probably damaging	1.00
R8228:Zfp456	UTSW	13	67366414	missense	probably damaging	1.00
R8410:Zfp456	UTSW	13	67372796	missense	probably damaging	1.00
R8507:Zfp456	UTSW	13	67366989	missense	probably damaging	1.00
R8745:Zfp456	UTSW	13	67367254	missense	possibly damaging	0.77
R8928:Zfp456	UTSW	13	67366484	missense	probably benign	0.00
R9331:Zfp456	UTSW	13	67366270	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACAGTCTTCACACTTGTAGGG -3'
(R):5'- TTTGGCTCAACAGGAATAAAACCC -3'

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

Posted On

2016-12-15