Mutagenetix > Incidental Mutation

Incidental Mutation 'R2314:Zfp809'

245421

Institutional Source

Beutler Lab

Gene Symbol

Zfp809

Ensembl Gene

ENSMUSG00000057982

Gene Name

zinc finger protein 809

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R2314 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22137010-22154650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22149976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 158 (K158E)

Ref Sequence

ENSEMBL: ENSMUSP00000151180 (fasta)

Gene Model

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

AlphaFold

G3X9G7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072465
AA Change: K158E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000072286
Gene: ENSMUSG00000057982
AA Change: K158E

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

noncoding transcript
Transcript: ENSMUST00000213350

Predicted Effect

probably benign
Transcript: ENSMUST00000213371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215583

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215618
AA Change: K158E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000215902

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,309,322 (GRCm39)	S39P	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Anxa6	T	A	11: 54,902,561 (GRCm39)	I58F	probably damaging	Het
Ccdc30	T	A	4: 119,181,763 (GRCm39)	K582*	probably null	Het
Cebpz	A	G	17: 79,227,976 (GRCm39)		probably null	Het
Clstn3	T	A	6: 124,427,676 (GRCm39)	D473V	probably benign	Het
Cry1	A	T	10: 84,969,175 (GRCm39)	C550S	probably benign	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dolk	G	T	2: 30,175,497 (GRCm39)	L183M	probably damaging	Het
Dpys	T	C	15: 39,691,486 (GRCm39)	T279A	possibly damaging	Het
Drd4	T	C	7: 140,873,854 (GRCm39)	Y140H	probably damaging	Het
Duox1	C	A	2: 122,164,211 (GRCm39)	C890*	probably null	Het
Epha2	T	A	4: 141,046,325 (GRCm39)	V508E	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fahd1	A	T	17: 25,068,570 (GRCm39)	I169N	probably damaging	Het
Fgfr1	C	T	8: 26,060,909 (GRCm39)	S527F	probably damaging	Het
Flywch1	A	G	17: 23,982,000 (GRCm39)	V68A	probably benign	Het
Gm21834	A	T	17: 58,049,210 (GRCm39)	V2E	possibly damaging	Het
Gm7853	A	T	14: 35,811,621 (GRCm39)		noncoding transcript	Het
Igf2r	T	A	17: 12,934,830 (GRCm39)	H713L	probably benign	Het
Iqgap3	T	C	3: 88,023,338 (GRCm39)	V543A	probably benign	Het
Kcnq5	T	A	1: 21,549,595 (GRCm39)		probably null	Het
Lsm1	C	T	8: 26,275,712 (GRCm39)	P5S	possibly damaging	Het
Marchf1	T	C	8: 66,574,442 (GRCm39)	M1T	probably null	Het
Myocd	T	C	11: 65,091,633 (GRCm39)	H103R	probably damaging	Het
Myom2	C	T	8: 15,113,927 (GRCm39)	T25I	probably damaging	Het
Nck1	T	C	9: 100,380,003 (GRCm39)	K83E	probably damaging	Het
Nid2	A	G	14: 19,839,829 (GRCm39)	D806G	probably benign	Het
Onecut2	G	T	18: 64,474,268 (GRCm39)	R254L	probably damaging	Het
Or51k1	T	A	7: 103,661,436 (GRCm39)	M158L	probably benign	Het
Plxna1	A	C	6: 89,301,298 (GRCm39)	L1534R	probably damaging	Het
Polb	C	A	8: 23,130,018 (GRCm39)	A185S	possibly damaging	Het
Pou3f3	T	C	1: 42,737,651 (GRCm39)	V449A	probably damaging	Het
Pskh1	C	T	8: 106,640,145 (GRCm39)	T275I	probably damaging	Het
Rab18	C	A	18: 6,788,516 (GRCm39)	A161D	probably damaging	Het
Rrp8	T	C	7: 105,384,011 (GRCm39)	R164G	probably benign	Het
Sacs	T	A	14: 61,445,208 (GRCm39)	I2418K	probably benign	Het
Scrn1	T	C	6: 54,502,631 (GRCm39)	E136G	probably benign	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Slitrk6	C	T	14: 110,989,387 (GRCm39)	A107T	probably damaging	Het
Spata31e2	T	C	1: 26,723,783 (GRCm39)	S466G	probably benign	Het
Tktl2	T	A	8: 66,965,795 (GRCm39)	F451Y	probably damaging	Het
Tnks1bp1	G	A	2: 84,889,259 (GRCm39)	V529M	probably benign	Het
Trps1	T	C	15: 50,524,742 (GRCm39)	K874E	probably damaging	Het
Ttll9	T	A	2: 152,825,047 (GRCm39)	D75E	probably benign	Het
Ttn	A	G	2: 76,596,368 (GRCm39)	Y20182H	probably damaging	Het
Ufc1	A	T	1: 171,116,821 (GRCm39)	C116S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Zfp81	A	G	17: 33,553,597 (GRCm39)	Y406H	probably damaging	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
R2356:Zfp809	UTSW	9	22,154,336 (GRCm39)	missense	probably benign	0.00
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'- GAATATCAAGCAGCTCATTCTAGG -3'
(R):5'- AAGAAAGCCTTTCCACATTCGC -3'

Sequencing Primer
(F):5'- GCAGCTCATTCTAGGAAAAACAG -3'
(R):5'- TCCACATTCGCTACACTCATAG -3'

Posted On

2014-10-30