Mutagenetix > Incidental Mutations

Incidental Mutation 'R4545:Zfp819'

333717

Institutional Source

Beutler Lab

Gene Symbol

Zfp819

Ensembl Gene

ENSMUSG00000055102

Gene Name

zinc finger protein 819

Synonyms

4933405K07Rik, 4930427I11Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R4545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43607169-43618285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 43617785 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 488 (R488L)

Ref Sequence

ENSEMBL: ENSMUSP00000113867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032661] [ENSMUST00000116324] [ENSMUST00000120935]

AlphaFold

Q80V81

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032661
AA Change: R564L

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032661
Gene: ENSMUSG00000055102
AA Change: R564L

Domain	Start	End	E-Value	Type
KRAB	27	85	1.69e-21	SMART
ZnF_C2H2	300	327	5.4e1	SMART
ZnF_C2H2	356	378	3.74e-5	SMART
ZnF_C2H2	384	406	5.59e-4	SMART
ZnF_C2H2	412	434	1.36e-2	SMART
ZnF_C2H2	440	462	7.78e-3	SMART
ZnF_C2H2	468	490	5.9e-3	SMART
ZnF_C2H2	496	518	1.2e-3	SMART
ZnF_C2H2	524	546	4.79e-3	SMART
ZnF_C2H2	552	574	4.54e-4	SMART
ZnF_C2H2	580	602	3.11e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116324
AA Change: R564L

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112026
Gene: ENSMUSG00000055102
AA Change: R564L

Domain	Start	End	E-Value	Type
KRAB	27	85	1.69e-21	SMART
ZnF_C2H2	300	327	5.4e1	SMART
ZnF_C2H2	356	378	3.74e-5	SMART
ZnF_C2H2	384	406	5.59e-4	SMART
ZnF_C2H2	412	434	1.36e-2	SMART
ZnF_C2H2	440	462	7.78e-3	SMART
ZnF_C2H2	468	490	5.9e-3	SMART
ZnF_C2H2	496	518	1.2e-3	SMART
ZnF_C2H2	524	546	4.79e-3	SMART
ZnF_C2H2	552	574	4.54e-4	SMART
ZnF_C2H2	580	602	3.11e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120935
AA Change: R488L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113867
Gene: ENSMUSG00000055102
AA Change: R488L

Domain	Start	End	E-Value	Type
ZnF_C2H2	224	251	5.4e1	SMART
ZnF_C2H2	280	302	3.74e-5	SMART
ZnF_C2H2	308	330	5.59e-4	SMART
ZnF_C2H2	336	358	1.36e-2	SMART
ZnF_C2H2	364	386	7.78e-3	SMART
ZnF_C2H2	392	414	5.9e-3	SMART
ZnF_C2H2	420	442	1.2e-3	SMART
ZnF_C2H2	448	470	4.79e-3	SMART
ZnF_C2H2	476	498	4.54e-4	SMART
ZnF_C2H2	504	526	3.11e-2	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	C	13: 4,507,844	V201G	probably damaging	Het
Atf7	A	G	15: 102,534,327	V449A	probably benign	Het
Ccr1	G	A	9: 123,964,400	A31V	probably benign	Het
Chrna6	A	T	8: 27,406,683	S389T	probably benign	Het
Clic6	C	T	16: 92,492,157		probably benign	Het
Cmya5	G	A	13: 93,091,918	R2221*	probably null	Het
Coq8b	G	T	7: 27,233,505	C13F	probably benign	Het
Cspg4	T	A	9: 56,888,629	L1216Q	possibly damaging	Het
Decr1	C	A	4: 15,930,979	V118F	probably damaging	Het
Dlec1	A	T	9: 119,128,078	I796F	probably damaging	Het
Dnajc11	T	A	4: 151,979,941	D516E	probably damaging	Het
Dock8	G	A	19: 25,188,358	V1869M	probably damaging	Het
Dst	A	G	1: 34,188,738	D1982G	probably damaging	Het
Gm11808	C	T	4: 3,973,244	R106H	probably benign	Het
Gnptab	G	A	10: 88,414,595	D190N	probably benign	Het
Golga4	A	G	9: 118,556,845	K22E	probably damaging	Het
Hecw2	T	C	1: 53,813,222	*1579W	probably null	Het
Ica1l	A	G	1: 60,013,818		probably null	Het
Ift122	T	A	6: 115,890,588	L433Q	probably damaging	Het
Iqgap1	T	C	7: 80,762,567		probably null	Het
Klra13-ps	T	C	6: 130,291,269		noncoding transcript	Het
Mndal	A	T	1: 173,875,664	Y58*	probably null	Het
Mvb12b	G	C	2: 33,827,700	P172R	possibly damaging	Het
Ncapg	T	C	5: 45,671,212	F102L	probably damaging	Het
Olfr1447	T	A	19: 12,901,268	K171*	probably null	Het
Olfr235	T	C	19: 12,268,824	V198A	possibly damaging	Het
Olfr390	T	C	11: 73,787,166	V76A	probably damaging	Het
Pde8a	A	T	7: 81,328,099	R713S	probably damaging	Het
Rbks	T	C	5: 31,624,568	N296S	probably benign	Het
Sema3c	G	A	5: 17,694,772	V421I	probably benign	Het
Tm9sf1	A	G	14: 55,638,108	V393A	possibly damaging	Het
Tubgcp2	G	A	7: 139,996,071	P893L	possibly damaging	Het
Vnn3	G	A	10: 23,856,326	R158H	probably benign	Het
Zfa-ps	G	T	10: 52,544,936		noncoding transcript	Het
Zfp414	T	C	17: 33,631,648		probably benign	Het
Zfp810	G	A	9: 22,278,745	T289I	probably damaging	Het
Zfp942	C	T	17: 21,928,304	G448D	probably benign	Het
Zscan12	A	G	13: 21,366,705	K165E	possibly damaging	Het

Other mutations in Zfp819

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Zfp819	APN	7	43611979	splice site	probably benign
IGL01732:Zfp819	APN	7	43616422	missense	probably benign	0.13
IGL02139:Zfp819	APN	7	43612110	critical splice donor site	probably null
IGL02276:Zfp819	APN	7	43612004	missense	possibly damaging	0.84
R0306:Zfp819	UTSW	7	43617197	missense	possibly damaging	0.92
R0620:Zfp819	UTSW	7	43616444	missense	probably benign	0.07
R1301:Zfp819	UTSW	7	43617100	missense	possibly damaging	0.94
R1314:Zfp819	UTSW	7	43617056	missense	probably benign	0.27
R1980:Zfp819	UTSW	7	43616461	missense	probably benign
R4993:Zfp819	UTSW	7	43617296	missense	probably benign	0.37
R5053:Zfp819	UTSW	7	43617146	missense	probably damaging	1.00
R6080:Zfp819	UTSW	7	43616696	missense	probably benign	0.00
R7289:Zfp819	UTSW	7	43617082	missense	probably damaging	1.00
R7387:Zfp819	UTSW	7	43612641	critical splice donor site	probably null
R7608:Zfp819	UTSW	7	43616933	missense	probably benign
R7813:Zfp819	UTSW	7	43616767	missense	probably benign
R7863:Zfp819	UTSW	7	43617892	missense	probably benign	0.17
R8026:Zfp819	UTSW	7	43617895	missense	probably benign	0.44
R8080:Zfp819	UTSW	7	43617724	missense	probably damaging	1.00
R9072:Zfp819	UTSW	7	43617146	missense	probably damaging	1.00
R9073:Zfp819	UTSW	7	43617146	missense	probably damaging	1.00
Z1176:Zfp819	UTSW	7	43617687	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGCGGGAAATTGTTTGTC -3'
(R):5'- ACGTATGAGCAAACAACTGC -3'

Sequencing Primer
(F):5'- GAAGCCTTATGAATGCCCTGACTG -3'
(R):5'- GTATGAGCAAACAACTGCACACAAC -3'

Posted On

2015-08-18