Mutagenetix > Incidental Mutations

Incidental Mutation 'R5053:Zfp819'

394750

Institutional Source

Beutler Lab

Gene Symbol

Zfp819

Ensembl Gene

ENSMUSG00000055102

Gene Name

zinc finger protein 819

Synonyms

4933405K07Rik, 4930427I11Rik

MMRRC Submission

042643-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R5053 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43607169-43618285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43617146 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 275 (T275I)

Ref Sequence

ENSEMBL: ENSMUSP00000113867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032661] [ENSMUST00000116324] [ENSMUST00000120935] [ENSMUST00000127765]

AlphaFold

Q80V81

Predicted Effect

probably damaging
Transcript: ENSMUST00000032661
AA Change: T351I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032661
Gene: ENSMUSG00000055102
AA Change: T351I

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: ENSMUST00000116324
AA Change: T351I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112026
Gene: ENSMUSG00000055102
AA Change: T351I

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: T275I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113867
Gene: ENSMUSG00000055102
AA Change: T275I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127765

SMART Domains

Protein: ENSMUSP00000116658
Gene: ENSMUSG00000055102

Domain	Start	End	E-Value	Type
KRAB	27	85	1.69e-21	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.9%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,137,369	I259F	probably damaging	Het
Adgrf2	A	G	17: 42,710,443	S497P	probably damaging	Het
Adsl	T	C	15: 80,960,450	C180R	probably damaging	Het
Ahctf1	A	G	1: 179,786,784	I448T	possibly damaging	Het
Alg9	G	T	9: 50,788,172	G200W	probably damaging	Het
Amhr2	G	A	15: 102,447,258	V213I	probably damaging	Het
Ankrd44	A	T	1: 54,735,089	L200*	probably null	Het
As3mt	A	G	19: 46,709,054	Y87C	probably damaging	Het
Bcl11a	C	A	11: 24,164,068	F470L	probably benign	Het
Cacna2d2	A	T	9: 107,514,864	Y468F	probably damaging	Het
Cep250	A	G	2: 155,962,928	D71G	possibly damaging	Het
Clca4b	T	C	3: 144,911,121	T923A	probably benign	Het
Clec16a	T	C	16: 10,576,597	L273P	probably damaging	Het
Comtd1	T	C	14: 21,847,696	D123G	probably damaging	Het
Cpa5	A	T	6: 30,623,272	E144V	probably damaging	Het
Cyp2c37	G	A	19: 40,001,887	S343N	probably benign	Het
Dennd6a	C	A	14: 26,608,583	T103K	probably damaging	Het
Ect2l	A	G	10: 18,140,345	L733P	probably damaging	Het
Erg	T	A	16: 95,524,534	H11L	probably benign	Het
Ero1lb	T	C	13: 12,599,906	L253P	probably damaging	Het
Etfbkmt	T	A	6: 149,147,268	L135*	probably null	Het
Frmd4a	A	T	2: 4,603,921	T867S	probably damaging	Het
Gm815	C	T	19: 26,886,413	A18V	unknown	Het
Gna12	C	A	5: 140,760,727	R321L	probably benign	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Irs1	A	G	1: 82,286,922	L1191P	probably benign	Het
Kcp	G	T	6: 29,496,958	Q551K	probably benign	Het
Klhl11	C	T	11: 100,472,200	V177M	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Llcfc1	A	G	6: 41,685,335	H91R	possibly damaging	Het
Lmnb2	A	T	10: 80,904,655	M223K	probably damaging	Het
Mbd6	C	T	10: 127,286,441	V173I	probably benign	Het
Mme	T	A	3: 63,364,849	V623E	probably damaging	Het
Ndc1	T	C	4: 107,374,218	S119P	probably damaging	Het
Nfs1	A	C	2: 156,126,398	C383G	probably damaging	Het
Nphp4	A	G	4: 152,544,462		probably null	Het
Oca2	C	A	7: 56,323,580	Q411K	probably benign	Het
Olfr1061	A	G	2: 86,413,338	F238S	probably damaging	Het
Olfr1211	C	A	2: 88,930,253	V21F	probably benign	Het
Olfr1377	G	A	11: 50,985,310	G203D	probably damaging	Het
Olfr479	A	G	7: 108,055,534	H184R	probably benign	Het
Olfr748	T	A	14: 50,710,511	Y60*	probably null	Het
Pcdh7	A	T	5: 57,721,601	T493S	probably damaging	Het
Phf20	T	C	2: 156,273,862	S368P	probably benign	Het
Pla2g2e	T	G	4: 138,880,375	V22G	possibly damaging	Het
Plxna1	A	T	6: 89,322,460	H1736Q	probably damaging	Het
Prlr	C	A	15: 10,325,385	Q215K	probably benign	Het
Prpf6	T	C	2: 181,649,453	V687A	probably benign	Het
Ptprq	T	A	10: 107,563,202	T1951S	probably damaging	Het
Sec31a	G	T	5: 100,393,214	Q345K	possibly damaging	Het
Serpina3k	T	C	12: 104,343,214		probably null	Het
Sertad3	T	A	7: 27,476,522	V127E	probably benign	Het
Sf3b1	A	T	1: 54,997,177	N912K	probably benign	Het
Shq1	A	G	6: 100,655,259	L202P	probably damaging	Het
Sp8	C	T	12: 118,849,604	T398M	probably damaging	Het
Tmem150c	A	T	5: 100,083,740	D125E	probably benign	Het
Trim3	G	T	7: 105,617,761	D470E	probably damaging	Het
Ubap1	T	A	4: 41,387,315	C88*	probably null	Het
Unc79	T	A	12: 103,104,748	D1124E	probably damaging	Het
Usf3	T	C	16: 44,217,187	S677P	probably benign	Het
Vmn1r76	T	C	7: 11,930,314		probably null	Het
Zranb2	T	A	3: 157,541,159	D161E	probably 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
R4545:Zfp819	UTSW	7	43617785	missense	probably damaging	0.98
R4993:Zfp819	UTSW	7	43617296	missense	probably benign	0.37
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
R9199:Zfp819	UTSW	7	43617779	missense	probably benign	0.04
Z1176:Zfp819	UTSW	7	43617687	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCAAATACGAGAAGGTCTTCAC -3'
(R):5'- AGTGTGGATTCTCCGATGCG -3'

Sequencing Primer
(F):5'- GCTTTGTGTCAGCAGCAAAC -3'
(R):5'- ATGCGTGGTGAGGACTGAC -3'

Posted On

2016-06-15