Mutagenetix > Incidental Mutations

Incidental Mutation 'R7608:Zfp819'

588439

Institutional Source

Beutler Lab

Gene Symbol

Zfp819

Ensembl Gene

ENSMUSG00000055102

Gene Name

zinc finger protein 819

Synonyms

4933405K07Rik, 4930427I11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7608 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43607169-43618285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43616933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 280 (V280A)

Ref Sequence

ENSEMBL: ENSMUSP00000032661 (fasta)

Gene Model

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

AlphaFold

Q80V81

Predicted Effect

probably benign
Transcript: ENSMUST00000032661
AA Change: V280A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032661
Gene: ENSMUSG00000055102
AA Change: V280A

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 benign
Transcript: ENSMUST00000116324
AA Change: V280A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112026
Gene: ENSMUSG00000055102
AA Change: V280A

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 benign
Transcript: ENSMUST00000120935
AA Change: V204A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113867
Gene: ENSMUSG00000055102
AA Change: V204A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,177,703	F311S	probably benign	Het
Adamts7	C	A	9: 90,173,773	T193N	possibly damaging	Het
Akr1b7	A	G	6: 34,420,522	N273S	probably damaging	Het
Asz1	G	A	6: 18,077,253	T151M	probably damaging	Het
Atrnl1	T	A	19: 57,714,687	Y1046N	probably damaging	Het
Cacna2d1	T	C	5: 16,359,024	S902P	probably damaging	Het
Casp3	T	A	8: 46,634,333	I105K	probably benign	Het
Ccdc146	C	T	5: 21,301,452	V664I	probably benign	Het
Cfap61	G	A	2: 145,963,531	C267Y	possibly damaging	Het
Dgkz	A	T	2: 91,934,054		probably null	Het
Dnah11	G	T	12: 118,140,770		probably null	Het
Duox1	C	A	2: 122,326,135	Y514*	probably null	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fam214b	A	G	4: 43,036,533	L66P	probably damaging	Het
Fan1	A	T	7: 64,354,231		probably null	Het
Fgfrl1	A	T	5: 108,705,345	K278M	probably damaging	Het
Fign	T	C	2: 63,978,719	I736V	possibly damaging	Het
Galns	A	G	8: 122,591,445	F410S	probably benign	Het
Hspbp1	C	A	7: 4,660,822	K341N	possibly damaging	Het
Idh3b	A	T	2: 130,280,980	S296R	probably damaging	Het
Ifi44	A	G	3: 151,732,408	F414S	probably damaging	Het
Kdm3a	T	A	6: 71,600,747	M690L	probably benign	Het
Lrrc49	C	T	9: 60,602,722	G488S	probably null	Het
Mcc	T	C	18: 44,491,227	N417S	possibly damaging	Het
Melk	T	A	4: 44,325,571		probably null	Het
Mtcl1	T	C	17: 66,343,305	R1722G	probably damaging	Het
Olfr1252	A	G	2: 89,721,298	V271A	probably benign	Het
Olfr1475	G	A	19: 13,479,592	T202I	possibly damaging	Het
Olfr562-ps1	A	G	7: 102,781,925	I150V	probably benign	Het
Olfr924	T	A	9: 38,848,510	V132D	possibly damaging	Het
Pdzrn3	T	C	6: 101,151,752	E651G	probably damaging	Het
Pop5	A	G	5: 115,237,872		probably benign	Het
Prox1	T	A	1: 190,153,445	M602L	probably benign	Het
Prpf39	G	A	12: 65,053,446	A298T	probably benign	Het
Scg2	T	C	1: 79,436,181	E275G	probably benign	Het
Scn11a	A	T	9: 119,815,313		probably null	Het
Slc16a4	A	T	3: 107,303,127	Y371F	probably damaging	Het
Slc4a1ap	T	A	5: 31,536,189	M489K	possibly damaging	Het
Spata13	A	G	14: 60,692,507	N505D	possibly damaging	Het
Tas2r129	A	G	6: 132,951,193	N31S	probably damaging	Het
Tmem159	A	G	7: 120,104,788	K19E	probably damaging	Het
Tnn	A	T	1: 160,088,414	Y1508*	probably null	Het
Trim23	T	C	13: 104,192,033	V354A	probably benign	Het
Tsc1	A	T	2: 28,658,736	T18S	probably benign	Het
Txlnb	A	G	10: 17,815,398	K232R	probably damaging	Het
Vmn1r53	C	T	6: 90,224,122	M73I	probably benign	Het
Vmn1r67	G	A	7: 10,447,363	V185M	possibly damaging	Het
Vmn2r14	A	G	5: 109,221,410	I99T	probably benign	Het
Zfp318	T	G	17: 46,400,009	V886G	probably damaging	Het
Zfp760	A	G	17: 21,722,816	N324S	probably benign	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
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
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'- TCACCTTCAAGCAGACAGAG -3'
(R):5'- TGATTTCCGACAGCCAGGAC -3'

Sequencing Primer
(F):5'- CCTGACGGCATTGTTGACTC -3'
(R):5'- GACAGCCAGGACATCCATGATG -3'

Posted On

2019-10-24