Mutagenetix > Incidental Mutations

Incidental Mutation 'R1980:Zfp819'

222146

Institutional Source

Beutler Lab

Gene Symbol

Zfp819

Ensembl Gene

ENSMUSG00000055102

Gene Name

zinc finger protein 819

Synonyms

4933405K07Rik, 4930427I11Rik

MMRRC Submission

039992-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43607169-43618285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43616461 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 47 (T47A)

Ref Sequence

ENSEMBL: ENSMUSP00000113867 (fasta)

Gene Model

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

AlphaFold

Q80V81

Predicted Effect

probably benign
Transcript: ENSMUST00000032661
AA Change: T123A

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

SMART Domains

Protein: ENSMUSP00000032661
Gene: ENSMUSG00000055102
AA Change: T123A

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: T123A

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

SMART Domains

Protein: ENSMUSP00000112026
Gene: ENSMUSG00000055102
AA Change: T123A

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: T47A

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

SMART Domains

Protein: ENSMUSP00000113867
Gene: ENSMUSG00000055102
AA Change: T47A

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	T	X: 89,931,445	V382E	probably damaging	Het
A730017C20Rik	T	A	18: 59,075,667	M129K	probably damaging	Het
Acly	A	C	11: 100,495,876	I620S	possibly damaging	Het
Acot8	A	G	2: 164,795,044	F262S	probably damaging	Het
Adgb	C	T	10: 10,433,498	V246I	probably benign	Het
Akap9	T	A	5: 3,972,771	M1200K	probably damaging	Het
Alg11	T	A	8: 22,061,887	F16I	possibly damaging	Het
Apol7c	A	G	15: 77,526,044	V234A	probably benign	Het
Arhgap19	T	G	19: 41,788,345	I122L	possibly damaging	Het
Arhgef37	A	G	18: 61,508,696	S201P	probably damaging	Het
Asgr1	A	T	11: 70,054,946	D16V	probably damaging	Het
Camta2	A	T	11: 70,682,482	C227S	probably benign	Het
Cd22	A	T	7: 30,873,233	L317Q	probably damaging	Het
Cenpf	A	T	1: 189,653,915	I2056K	probably benign	Het
Cenpi	T	A	X: 134,318,033	F161L	possibly damaging	Het
Ciapin1	C	T	8: 94,832,533	V43I	probably benign	Het
Dach1	A	G	14: 97,831,341	L601P	probably damaging	Het
Ddx11	T	A	17: 66,148,739	L711Q	probably damaging	Het
Dsg1a	A	T	18: 20,338,650	N653I	probably damaging	Het
Fezf2	G	T	14: 12,344,405	P261T	probably benign	Het
Galnt5	T	C	2: 58,024,723		probably null	Het
Gemin5	A	G	11: 58,136,917	L935P	probably damaging	Het
Gm11273	T	G	13: 21,501,124	T99P	possibly damaging	Het
Gm9507	A	T	10: 77,811,685	C53*	probably null	Het
Irgm2	A	G	11: 58,220,076	I198V	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Klf12	A	C	14: 100,149,726		probably null	Het
Lpp	C	T	16: 24,661,701	P73L	probably damaging	Het
Lrrc34	G	A	3: 30,642,741	H127Y	probably benign	Het
Lyar	T	C	5: 38,224,709	S12P	probably damaging	Het
Maml3	A	G	3: 52,104,052	I31T	unknown	Het
Mei1	A	G	15: 82,103,312	N859S	probably benign	Het
Mysm1	A	T	4: 94,952,213	N655K	probably benign	Het
Npnt	T	C	3: 132,948,132	I29M	probably benign	Het
Nrxn1	A	G	17: 91,088,318	W137R	probably benign	Het
Numb	C	T	12: 83,797,344		probably null	Het
Obsl1	A	G	1: 75,505,836	F130S	probably damaging	Het
Olfr1297	T	A	2: 111,621,241	I278F	probably benign	Het
Olfr91	T	G	17: 37,093,403	Q157P	probably damaging	Het
Pbx4	T	C	8: 69,870,126	V294A	probably benign	Het
Pde4dip	A	C	3: 97,756,996	L524R	possibly damaging	Het
Plppr1	G	A	4: 49,337,655	A319T	probably benign	Het
Ppid	A	T	3: 79,593,618	I32F	probably damaging	Het
Prkcsh	A	G	9: 22,012,868	D458G	probably damaging	Het
Prr27	A	G	5: 87,843,402	E291G	probably benign	Het
Psme4	A	T	11: 30,832,615	K923N	possibly damaging	Het
Rab25	T	C	3: 88,543,458	T45A	probably damaging	Het
Rapgef1	C	T	2: 29,722,227	P630S	probably benign	Het
Rasa2	T	C	9: 96,570,768	D355G	probably damaging	Het
Rel	C	T	11: 23,742,761	G424D	probably benign	Het
Rtn4	A	T	11: 29,708,634	E929D	probably benign	Het
Samt3	A	C	X: 86,047,134	M211L	probably benign	Het
Slk	T	G	19: 47,611,989	I151S	probably damaging	Het
Spin1	T	A	13: 51,144,470	V175D	probably damaging	Het
Ssxb10	A	G	X: 8,331,019	D77G	probably benign	Het
Ticam1	C	T	17: 56,271,555	R180H	probably damaging	Het
Tmem151b	G	C	17: 45,545,461	P351R	possibly damaging	Het
Tmod1	A	C	4: 46,061,043	Y10S	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpm1	T	C	7: 64,208,434	Y225H	possibly damaging	Het
Ttc17	T	C	2: 94,326,704	N411S	probably benign	Het
Tyro3	A	G	2: 119,808,817	D335G	probably benign	Het
Unc79	C	A	12: 103,011,279	Y180*	probably null	Het
Upp1	A	T	11: 9,134,872	D197V	possibly damaging	Het
Vmn1r226	T	A	17: 20,688,046	M180K	possibly damaging	Het
Vtn	T	A	11: 78,501,898	I434N	probably damaging	Het
Zfp329	T	A	7: 12,811,468	N43I	probably benign	Het
Zyg11b	G	A	4: 108,265,930	T280I	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
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
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'- ACCATCGTCAGAGTCATTTCTAC -3'
(R):5'- TCACACGGGCAACATCTCAG -3'

Sequencing Primer
(F):5'- GTCAGAGTCATTTCTACCTGATGCAG -3'
(R):5'- GGGCAACATCTCAGAGATCTCTTTTG -3'

Posted On

2014-08-25