Mutagenetix > Incidental Mutation

Incidental Mutation 'R2356:Zfp809'

246937

Institutional Source

Beutler Lab

Gene Symbol

Zfp809

Ensembl Gene

ENSMUSG00000057982

Gene Name

zinc finger protein 809

Synonyms

MMRRC Submission

040338-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R2356 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22137010-22154650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22154336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 351 (T351K)

Ref Sequence

ENSEMBL: ENSMUSP00000072286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072465] [ENSMUST00000086281] [ENSMUST00000213371] [ENSMUST00000215618] [ENSMUST00000215902]

AlphaFold

G3X9G7

Predicted Effect

probably benign
Transcript: ENSMUST00000072465
AA Change: T351K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000072286
Gene: ENSMUSG00000057982
AA Change: T351K

Domain	Start	End	E-Value	Type
KRAB	4	64	7.56e-33	SMART
ZnF_C2H2	155	178	2.4e-3	SMART
ZnF_C2H2	184	206	4.79e-3	SMART
ZnF_C2H2	213	235	5.21e-4	SMART
ZnF_C2H2	241	263	2.57e-3	SMART
ZnF_C2H2	269	291	1.28e-3	SMART
ZnF_C2H2	297	319	1.1e-2	SMART
ZnF_C2H2	325	347	6.32e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086281

SMART Domains

Protein: ENSMUSP00000083462
Gene: ENSMUSG00000062794

Domain	Start	End	E-Value	Type
KRAB	4	64	5.35e-33	SMART
ZnF_C2H2	228	250	5.59e-4	SMART
ZnF_C2H2	256	278	2.43e-4	SMART
ZnF_C2H2	284	306	1.69e-3	SMART
ZnF_C2H2	312	334	8.94e-3	SMART
ZnF_C2H2	340	362	8.47e-4	SMART
ZnF_C2H2	368	390	5.06e-2	SMART
ZnF_C2H2	396	418	7.9e-4	SMART
ZnF_C2H2	424	446	7.67e-2	SMART
ZnF_C2H2	452	474	1.64e-1	SMART
ZnF_C2H2	480	503	7.37e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213371

Predicted Effect

probably benign
Transcript: ENSMUST00000215618

Predicted Effect

probably benign
Transcript: ENSMUST00000215902

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased expression of VL30-pro endogenous retroviruses (ERV) elements. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	G	T	16: 20,379,249 (GRCm39)	R705L	probably benign	Het
Adcy6	A	T	15: 98,494,897 (GRCm39)		probably null	Het
Ank1	A	T	8: 23,575,688 (GRCm39)	T145S	probably damaging	Het
Aph1a	T	C	3: 95,801,544 (GRCm39)	F21S	probably benign	Het
Apoa5	T	A	9: 46,181,341 (GRCm39)	V139E	probably damaging	Het
Arhgap44	T	C	11: 64,900,851 (GRCm39)	K595R	probably damaging	Het
Arhgap5	C	T	12: 52,565,930 (GRCm39)	P967L	probably benign	Het
Atp13a5	A	T	16: 29,099,887 (GRCm39)	I683N	probably damaging	Het
Cdc6	A	G	11: 98,810,118 (GRCm39)	T476A	probably benign	Het
Cdk10	T	C	8: 123,955,908 (GRCm39)	V199A	probably damaging	Het
Ces2h	G	A	8: 105,742,570 (GRCm39)	C94Y	probably damaging	Het
Clcn1	G	A	6: 42,268,559 (GRCm39)	G155D	probably damaging	Het
Cxcr4	A	G	1: 128,517,251 (GRCm39)	Y135H	probably damaging	Het
Dapp1	A	G	3: 137,643,510 (GRCm39)	V184A	possibly damaging	Het
Dhrs7	A	C	12: 72,699,155 (GRCm39)	S276A	probably benign	Het
Dlg5	A	G	14: 24,220,496 (GRCm39)		probably null	Het
Dnaaf1	T	A	8: 120,315,026 (GRCm39)	F278Y	probably damaging	Het
Dnaaf2	A	G	12: 69,244,992 (GRCm39)	F23S	probably benign	Het
En2	G	T	5: 28,371,330 (GRCm39)		probably benign	Het
Erbb4	T	A	1: 68,117,755 (GRCm39)	M887L	probably benign	Het
Exoc5	T	C	14: 49,253,738 (GRCm39)	M482V	probably benign	Het
Foxk1	A	G	5: 142,441,164 (GRCm39)	I571V	possibly damaging	Het
Fry	G	A	5: 150,394,897 (GRCm39)	G650D	probably benign	Het
Gm8225	T	C	17: 26,762,378 (GRCm39)	S190P	probably damaging	Het
Gpx5	G	C	13: 21,475,538 (GRCm39)	H63D	possibly damaging	Het
Ipo9	A	T	1: 135,334,555 (GRCm39)	S285T	probably benign	Het
Itga8	T	C	2: 12,204,952 (GRCm39)	H495R	probably benign	Het
Klf11	T	C	12: 24,703,582 (GRCm39)	S6P	probably damaging	Het
Krtap8-1	A	T	16: 89,284,789 (GRCm39)	Y3N	possibly damaging	Het
Krtap8-1	G	T	16: 89,284,790 (GRCm39)	Y2*	probably null	Het
Lama1	T	A	17: 68,117,109 (GRCm39)	L2468Q	probably damaging	Het
Lmo7	T	C	14: 102,124,381 (GRCm39)	L280S	probably damaging	Het
Matk	G	A	10: 81,097,377 (GRCm39)		probably null	Het
Mcmdc2	A	G	1: 10,001,026 (GRCm39)	T434A	possibly damaging	Het
Mst1r	T	A	9: 107,795,069 (GRCm39)	L1283Q	probably damaging	Het
Muc21	A	G	17: 35,932,563 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,970,863 (GRCm39)	I282N	probably damaging	Het
Ncln	A	G	10: 81,328,756 (GRCm39)	V174A	probably benign	Het
Nipa2	G	A	7: 55,582,714 (GRCm39)	H344Y	probably benign	Het
Nlrp4g	A	G	9: 124,349,306 (GRCm38)		noncoding transcript	Het
Or56b1	G	T	7: 104,285,834 (GRCm39)	E318*	probably null	Het
Or6c38	T	C	10: 128,929,761 (GRCm39)	I27M	probably benign	Het
Pik3r5	T	C	11: 68,383,743 (GRCm39)	S521P	probably damaging	Het
Pkhd1l1	C	T	15: 44,396,415 (GRCm39)	T1979M	probably benign	Het
Plekhn1	T	G	4: 156,307,158 (GRCm39)	D464A	probably damaging	Het
Ppp4r1	T	A	17: 66,140,045 (GRCm39)	Y648N	probably damaging	Het
Prkaa2	C	T	4: 104,896,918 (GRCm39)		probably null	Het
Prkdc	T	A	16: 15,502,068 (GRCm39)	H828Q	probably benign	Het
Prss40	A	T	1: 34,598,984 (GRCm39)	Y69*	probably null	Het
Prx	C	T	7: 27,207,284 (GRCm39)		probably benign	Het
Psmd11	T	A	11: 80,319,530 (GRCm39)	S7T	possibly damaging	Het
Psmd14	A	T	2: 61,630,351 (GRCm39)	H287L	probably benign	Het
Rcor1	T	C	12: 111,076,226 (GRCm39)	Y297H	probably damaging	Het
Rnf40	T	G	7: 127,190,748 (GRCm39)	V272G	probably damaging	Het
Serpina3f	G	T	12: 104,183,626 (GRCm39)	E163*	probably null	Het
Setd4	G	A	16: 93,387,871 (GRCm39)	T205I	probably damaging	Het
Shroom1	A	T	11: 53,357,274 (GRCm39)	T646S	probably benign	Het
Smg8	G	C	11: 86,976,554 (GRCm39)	S342R	probably benign	Het
Spata31h1	A	G	10: 82,119,789 (GRCm39)	V4407A	possibly damaging	Het
Trhde	T	C	10: 114,237,421 (GRCm39)	Y986C	probably damaging	Het
Tulp2	A	T	7: 45,168,052 (GRCm39)	T155S	possibly damaging	Het
Vmn1r212	A	T	13: 23,068,120 (GRCm39)	L71*	probably null	Het
Wnk2	A	T	13: 49,192,644 (GRCm39)	C2032*	probably null	Het
Zfp429	A	G	13: 67,538,746 (GRCm39)	Y233H	probably benign	Het

Other mutations in Zfp809

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02967:Zfp809	APN	9	22,146,398 (GRCm39)	missense	probably damaging	1.00
IGL03117:Zfp809	APN	9	22,149,950 (GRCm39)	missense	probably damaging	0.99
IGL03177:Zfp809	APN	9	22,146,347 (GRCm39)	missense	probably damaging	0.99
IGL03250:Zfp809	APN	9	22,149,931 (GRCm39)	missense	possibly damaging	0.91
IGL03265:Zfp809	APN	9	22,154,339 (GRCm39)	missense	probably benign	0.20
R1080:Zfp809	UTSW	9	22,146,405 (GRCm39)	missense	probably damaging	0.98
R1544:Zfp809	UTSW	9	22,146,395 (GRCm39)	missense	probably damaging	1.00
R1875:Zfp809	UTSW	9	22,150,027 (GRCm39)	nonsense	probably null
R2137:Zfp809	UTSW	9	22,146,434 (GRCm39)	missense	probably benign	0.07
R2314:Zfp809	UTSW	9	22,149,976 (GRCm39)	missense	possibly damaging	0.95
R5019:Zfp809	UTSW	9	22,148,998 (GRCm39)	missense	probably benign	0.44
R5735:Zfp809	UTSW	9	22,150,227 (GRCm39)	nonsense	probably null
R6483:Zfp809	UTSW	9	22,147,540 (GRCm39)	missense	probably benign
R7106:Zfp809	UTSW	9	22,147,520 (GRCm39)	missense	probably benign	0.04
R8969:Zfp809	UTSW	9	22,137,130 (GRCm39)	critical splice donor site	probably null
R9364:Zfp809	UTSW	9	22,150,394 (GRCm39)	missense	probably damaging	0.99
R9600:Zfp809	UTSW	9	22,150,384 (GRCm39)	missense	possibly damaging	0.69
R9666:Zfp809	UTSW	9	22,149,863 (GRCm39)	missense	probably benign	0.07
R9700:Zfp809	UTSW	9	22,154,470 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGAAGTGAGCAAGGTTGAGCA -3'
(R):5'- TTCCTAGACCAAAGCTGTTCAA -3'

Sequencing Primer
(F):5'- GCGAGCAGAGGTCCTAAATTCAATTC -3'
(R):5'- CATGGTAGCAGCAACAGGTTCATTC -3'

Posted On

2014-10-30