Mutagenetix > Incidental Mutation

Incidental Mutation 'R9700:Zfp809'

729518

Institutional Source

Beutler Lab

Gene Symbol

Zfp809

Ensembl Gene

ENSMUSG00000057982

Gene Name

zinc finger protein 809

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9700 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22137010-22154650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22154470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 396 (C396R)

Ref Sequence

ENSEMBL: ENSMUSP00000072286 (fasta)

Gene Model

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

AlphaFold

G3X9G7

Predicted Effect

unknown
Transcript: ENSMUST00000072465
AA Change: C396R

SMART Domains

Protein: ENSMUSP00000072286
Gene: ENSMUSG00000057982
AA Change: C396R

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	C	T	15: 11,311,442 (GRCm39)	S1233F	probably benign	Het
Aldh1a2	G	T	9: 71,123,228 (GRCm39)	E34*	probably null	Het
Arhgap39	T	C	15: 76,611,617 (GRCm39)	T856A	probably damaging	Het
Arpin	A	G	7: 79,578,015 (GRCm39)	V138A	probably damaging	Het
Art3	T	G	5: 92,562,120 (GRCm39)	S373A	unknown	Het
AU018091	A	T	7: 3,208,165 (GRCm39)	I514N	probably benign	Het
BC034090	C	T	1: 155,101,982 (GRCm39)	R94H	probably damaging	Het
C2cd6	T	G	1: 59,117,089 (GRCm39)	M135L	probably benign	Het
Cdc42ep2	T	C	19: 5,968,097 (GRCm39)	M203V	probably damaging	Het
Cftr	T	C	6: 18,268,359 (GRCm39)	Y803H	probably damaging	Het
Dcaf1	C	T	9: 106,735,524 (GRCm39)	T824I	probably benign	Het
Ddr1	A	T	17: 35,993,288 (GRCm39)	D906E	probably damaging	Het
Dhx8	G	A	11: 101,624,015 (GRCm39)		probably null	Het
Dpysl5	C	T	5: 30,904,417 (GRCm39)	Q88*	probably null	Het
Ercc6l2	A	G	13: 63,967,525 (GRCm39)	T42A	probably benign	Het
Faf1	A	G	4: 109,748,179 (GRCm39)	K495E	possibly damaging	Het
Hr	T	C	14: 70,804,616 (GRCm39)	V928A	probably benign	Het
Ints14	C	T	9: 64,880,007 (GRCm39)	R174*	probably null	Het
Jam3	T	C	9: 27,010,183 (GRCm39)	Y267C	probably damaging	Het
Lpin3	A	T	2: 160,740,565 (GRCm39)	N370I	probably benign	Het
Mad2l1	C	A	6: 66,512,955 (GRCm39)	N29K	probably damaging	Het
Myt1	A	G	2: 181,452,177 (GRCm39)	K838R	probably damaging	Het
Ninj2	T	C	6: 120,174,873 (GRCm39)	S15P	probably benign	Het
Or14a256	A	T	7: 86,265,618 (GRCm39)	N78K	probably benign	Het
Or1j14	T	A	2: 36,418,313 (GRCm39)	D296E	probably benign	Het
Or6b9	A	G	7: 106,555,630 (GRCm39)	V171A	probably benign	Het
Or9a2	T	A	6: 41,749,076 (GRCm39)	K52N	probably benign	Het
Osgin2	A	G	4: 16,006,455 (GRCm39)	S80P	probably damaging	Het
Pcdha5	A	G	18: 37,094,447 (GRCm39)	N319D	probably benign	Het
Phkb	A	G	8: 86,567,696 (GRCm39)	K14E	probably benign	Het
Pip5k1b	T	C	19: 24,281,460 (GRCm39)	Y518C	probably benign	Het
Polh	A	T	17: 46,510,414 (GRCm39)	M14K	probably damaging	Het
Prtg	A	G	9: 72,762,313 (GRCm39)	D480G	probably benign	Het
Ptprk	T	C	10: 28,456,495 (GRCm39)	V1099A	probably damaging	Het
Pum2	T	C	12: 8,779,044 (GRCm39)	F539L	probably damaging	Het
Rac3	A	T	11: 120,613,399 (GRCm39)	T58S	probably damaging	Het
Setd1a	A	T	7: 127,385,752 (GRCm39)	I820F	possibly damaging	Het
Six2	A	G	17: 85,994,867 (GRCm39)	F172L	probably damaging	Het
Spic	T	A	10: 88,515,757 (GRCm39)	I22F	probably benign	Het
Tex30	T	C	1: 44,130,374 (GRCm39)		probably null	Het
Tgfbi	T	C	13: 56,778,411 (GRCm39)	I394T	probably benign	Het
Tnc	A	G	4: 63,933,186 (GRCm39)	F693L	probably damaging	Het
Ubr4	T	A	4: 139,119,388 (GRCm39)	V189E	probably damaging	Het
Vegfa	G	A	17: 46,342,713 (GRCm39)	P35L	probably damaging	Het
Zan	T	C	5: 137,454,836 (GRCm39)	H1400R	unknown	Het
Zfp36l2	A	G	17: 84,494,184 (GRCm39)	I151T	possibly damaging	Het
Zfp93	G	A	7: 23,974,894 (GRCm39)	G293D	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
R2314:Zfp809	UTSW	9	22,149,976 (GRCm39)	missense	possibly damaging	0.95
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

Predicted Primers

PCR Primer
(F):5'- GTAACTAACACTCTCCTGTTTGTTGG -3'
(R):5'- GGGTTTCCTAGACCAAAGCTG -3'

Sequencing Primer
(F):5'- CTCTCCTGTTTGTTGGTTATTTATGC -3'
(R):5'- GAACCTCATGTATTCTAGGTGACAGC -3'

Posted On

2022-10-06