Mutagenetix > Incidental Mutation

Incidental Mutation 'R8228:Zfp456'

637069

Institutional Source

Beutler Lab

Gene Symbol

Zfp456

Ensembl Gene

ENSMUSG00000078995

Gene Name

zinc finger protein 456

Synonyms

Rslcan-13

MMRRC Submission

067661-MU

Accession Numbers

Essential gene?

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

Stock #

R8228 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67511700-67523872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 67514533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 391 (C391F)

Ref Sequence

ENSEMBL: ENSMUSP00000059686 (fasta)

Gene Model

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

AlphaFold

B2RUK9

Predicted Effect

probably damaging
Transcript: ENSMUST00000057070
AA Change: C391F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059686
Gene: ENSMUSG00000078995
AA Change: C391F

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: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	C	6: 72,324,500 (GRCm39)		probably null	Het
1700008O03Rik	A	G	7: 44,009,729 (GRCm39)	Y158H	probably benign	Het
4930438A08Rik	T	A	11: 58,182,381 (GRCm39)	I252N		Het
A930011G23Rik	G	A	5: 99,524,980 (GRCm39)	P60S	probably damaging	Het
Abcf1	A	G	17: 36,271,933 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,026,260 (GRCm39)	T14A	probably damaging	Het
Alox12b	T	C	11: 69,054,755 (GRCm39)	Y253H	probably damaging	Het
Anapc1	T	A	2: 128,461,837 (GRCm39)	K1756*	probably null	Het
Arid5b	T	A	10: 68,114,536 (GRCm39)	E2V	possibly damaging	Het
Atp13a1	G	A	8: 70,251,569 (GRCm39)	V545M	probably damaging	Het
Atp2b4	TTCTTC	TTCTTCCTCTTC	1: 133,629,459 (GRCm39)		probably benign	Het
Cert1	A	G	13: 96,679,723 (GRCm39)	T18A	probably benign	Het
Cfap119	G	A	7: 127,184,179 (GRCm39)	T239M	probably benign	Het
Col1a1	T	G	11: 94,836,426 (GRCm39)		probably null	Het
Csdc2	C	T	15: 81,833,411 (GRCm39)	T136I	possibly damaging	Het
Dpp9	A	T	17: 56,498,129 (GRCm39)	I609N	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Gjb6	T	C	14: 57,361,926 (GRCm39)	R112G	probably benign	Het
Gm19410	A	G	8: 36,252,992 (GRCm39)	K646E	possibly damaging	Het
Grik5	T	C	7: 24,709,933 (GRCm39)	E934G	probably damaging	Het
Grik5	A	T	7: 24,745,735 (GRCm39)	F446Y	possibly damaging	Het
Iffo2	C	G	4: 139,302,483 (GRCm39)	N75K	probably damaging	Het
Kif15	A	G	9: 122,821,041 (GRCm39)	N649D	possibly damaging	Het
Lrit2	G	A	14: 36,791,148 (GRCm39)	A276T	probably damaging	Het
Mcm8	T	C	2: 132,684,714 (GRCm39)		probably null	Het
Mmut	A	G	17: 41,248,219 (GRCm39)	E82G	possibly damaging	Het
Or4n4	A	G	14: 50,518,997 (GRCm39)	S238P	probably damaging	Het
Or5w8	T	A	2: 87,688,284 (GRCm39)	M255K	probably benign	Het
Pcdhga8	A	G	18: 37,861,236 (GRCm39)	Q764R	probably benign	Het
Pcgf2	T	C	11: 97,582,865 (GRCm39)	Y138C	probably benign	Het
Phf20l1	G	T	15: 66,511,789 (GRCm39)	V922F	possibly damaging	Het
Pkd1l2	A	T	8: 117,792,514 (GRCm39)	I426N	probably damaging	Het
Psmd6	T	C	14: 14,116,843 (GRCm38)	N160S	possibly damaging	Het
Robo1	A	G	16: 72,809,768 (GRCm39)	D1172G	probably benign	Het
Sdr9c7	T	C	10: 127,734,544 (GRCm39)	Y11H	possibly damaging	Het
Sec24c	G	T	14: 20,739,975 (GRCm39)	A635S	probably benign	Het
Tex2	T	C	11: 106,457,997 (GRCm39)	I478V	probably benign	Het
Traip	T	C	9: 107,838,265 (GRCm39)	M166T	probably benign	Het
Trdn	T	C	10: 33,033,014 (GRCm39)	S80P	probably damaging	Het
Trim46	G	T	3: 89,142,255 (GRCm39)	T744N	probably benign	Het
Tsc1	C	A	2: 28,566,141 (GRCm39)	A520D	probably benign	Het
Usp36	T	C	11: 118,155,716 (GRCm39)	E852G	possibly damaging	Het
Vmn2r101	C	T	17: 19,811,284 (GRCm39)	T456I	probably benign	Het
Zc3h7a	A	G	16: 10,956,954 (GRCm39)	F885S	probably damaging	Het
Zfp335	G	A	2: 164,746,818 (GRCm39)	R354W	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
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
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'- CACACAGTCAAAGAGTTTTATTCGG -3'
(R):5'- ACAAGTGTGAAGACTGTGGC -3'

Sequencing Primer
(F):5'- TGATGTCTTTTAAGGACTGAAGAAG -3'
(R):5'- CTGAAGGCAATCCCTATAAGTGTG -3'

Posted On

2020-07-13