Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01732:Zfp819'

105557

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp819

Ensembl Gene

ENSMUSG00000055102

Gene Name

zinc finger protein 819

Synonyms

4933405K07Rik, 4930427I11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL01732

Quality Score

Status

Chromosome

Chromosomal Location

43256593-43267709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43265846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 34 (K34E)

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: K110E

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032661
Gene: ENSMUSG00000055102
AA Change: K110E

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: K110E

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112026
Gene: ENSMUSG00000055102
AA Change: K110E

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: K34E

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113867
Gene: ENSMUSG00000055102
AA Change: K34E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh4a1	G	T	4: 139,369,471 (GRCm39)	E341*	probably null	Het
Alpk3	A	G	7: 80,707,390 (GRCm39)	R5G	unknown	Het
Arhgef10l	C	T	4: 140,307,726 (GRCm39)	V113M	probably damaging	Het
Brca2	T	A	5: 150,465,852 (GRCm39)	I1872K	probably benign	Het
Cdk17	C	A	10: 93,053,907 (GRCm39)	P134T	probably benign	Het
Cerk	A	G	15: 86,030,517 (GRCm39)	S35P	possibly damaging	Het
Cfap126	T	C	1: 170,954,305 (GRCm39)	V174A	possibly damaging	Het
Cfhr1	T	C	1: 139,478,606 (GRCm39)	T255A	probably benign	Het
Clcn1	A	G	6: 42,287,606 (GRCm39)		probably benign	Het
Copz1	A	G	15: 103,206,318 (GRCm39)	E151G	probably benign	Het
Cubn	G	A	2: 13,494,747 (GRCm39)	Q101*	probably null	Het
Eri1	T	C	8: 35,958,397 (GRCm39)	E12G	possibly damaging	Het
Fut9	A	G	4: 25,619,867 (GRCm39)	F316L	possibly damaging	Het
Garin1a	A	T	6: 29,285,979 (GRCm39)	H146L	probably damaging	Het
Gm973	A	G	1: 59,669,396 (GRCm39)	I816V	probably benign	Het
Itln1	A	G	1: 171,362,348 (GRCm39)	M11T	probably benign	Het
Klc2	C	T	19: 5,159,825 (GRCm39)	R458Q	probably damaging	Het
Lrrc8b	A	T	5: 105,633,826 (GRCm39)	E766V	probably damaging	Het
Mmadhc	A	T	2: 50,171,197 (GRCm39)	I205N	probably damaging	Het
Myo10	A	G	15: 25,732,149 (GRCm39)	I342V	probably benign	Het
Ncapg	T	A	5: 45,851,195 (GRCm39)	V796D	probably damaging	Het
Olfm3	A	C	3: 114,890,649 (GRCm39)	D134A	possibly damaging	Het
Or3a1c	T	C	11: 74,046,279 (GRCm39)	C100R	probably damaging	Het
Or51t4	T	A	7: 102,598,446 (GRCm39)	I248N	probably damaging	Het
Or56b2	T	C	7: 104,337,543 (GRCm39)	M107T	possibly damaging	Het
Phldb3	A	G	7: 24,326,751 (GRCm39)	E593G	probably damaging	Het
Plcg1	T	A	2: 160,589,699 (GRCm39)	D74E	probably damaging	Het
Plekhm3	T	C	1: 64,961,407 (GRCm39)	D283G	probably benign	Het
Pnpla6	C	A	8: 3,572,616 (GRCm39)	T279N	probably damaging	Het
Prkcq	G	A	2: 11,265,644 (GRCm39)		probably benign	Het
Rbm11	G	A	16: 75,397,510 (GRCm39)	A147T	probably benign	Het
Rnf103	A	G	6: 71,487,366 (GRCm39)	K666E	probably damaging	Het
Selenos	A	G	7: 65,730,137 (GRCm39)	Y45C	probably damaging	Het
Septin11	A	G	5: 93,309,085 (GRCm39)	Y255C	probably damaging	Het
Serpinb3c	T	C	1: 107,199,702 (GRCm39)	H273R	probably benign	Het
Slc35f2	A	G	9: 53,713,909 (GRCm39)	D141G	probably damaging	Het
Sntg2	A	T	12: 30,362,648 (GRCm39)	Y33N	probably damaging	Het
Snx19	C	A	9: 30,373,649 (GRCm39)	T904K	probably damaging	Het
Tenm4	A	G	7: 96,544,716 (GRCm39)	Y2244C	probably damaging	Het
Tescl	A	G	7: 24,032,872 (GRCm39)	V151A	probably damaging	Het
Tnrc18	C	T	5: 142,757,816 (GRCm39)	V902M	unknown	Het
Trmt13	A	G	3: 116,375,113 (GRCm39)	L465S	probably damaging	Het
Ube2j2	T	G	4: 156,041,788 (GRCm39)	V249G	probably damaging	Het
Zan	T	C	5: 137,391,273 (GRCm39)	K4737R	unknown	Het
Zc3h6	T	C	2: 128,853,795 (GRCm39)	I430T	probably damaging	Het
Zfp750	G	A	11: 121,403,819 (GRCm39)	S352L	probably benign	Het

Other mutations in Zfp819

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Zfp819	APN	7	43,261,403 (GRCm39)	splice site	probably benign
IGL02139:Zfp819	APN	7	43,261,534 (GRCm39)	critical splice donor site	probably null
IGL02276:Zfp819	APN	7	43,261,428 (GRCm39)	missense	possibly damaging	0.84
R0306:Zfp819	UTSW	7	43,266,621 (GRCm39)	missense	possibly damaging	0.92
R0620:Zfp819	UTSW	7	43,265,868 (GRCm39)	missense	probably benign	0.07
R1301:Zfp819	UTSW	7	43,266,524 (GRCm39)	missense	possibly damaging	0.94
R1314:Zfp819	UTSW	7	43,266,480 (GRCm39)	missense	probably benign	0.27
R1980:Zfp819	UTSW	7	43,265,885 (GRCm39)	missense	probably benign
R4545:Zfp819	UTSW	7	43,267,209 (GRCm39)	missense	probably damaging	0.98
R4993:Zfp819	UTSW	7	43,266,720 (GRCm39)	missense	probably benign	0.37
R5053:Zfp819	UTSW	7	43,266,570 (GRCm39)	missense	probably damaging	1.00
R6080:Zfp819	UTSW	7	43,266,120 (GRCm39)	missense	probably benign	0.00
R7289:Zfp819	UTSW	7	43,266,506 (GRCm39)	missense	probably damaging	1.00
R7387:Zfp819	UTSW	7	43,262,065 (GRCm39)	critical splice donor site	probably null
R7608:Zfp819	UTSW	7	43,266,357 (GRCm39)	missense	probably benign
R7813:Zfp819	UTSW	7	43,266,191 (GRCm39)	missense	probably benign
R7863:Zfp819	UTSW	7	43,267,316 (GRCm39)	missense	probably benign	0.17
R8026:Zfp819	UTSW	7	43,267,319 (GRCm39)	missense	probably benign	0.44
R8080:Zfp819	UTSW	7	43,267,148 (GRCm39)	missense	probably damaging	1.00
R9072:Zfp819	UTSW	7	43,266,570 (GRCm39)	missense	probably damaging	1.00
R9073:Zfp819	UTSW	7	43,266,570 (GRCm39)	missense	probably damaging	1.00
R9199:Zfp819	UTSW	7	43,267,203 (GRCm39)	missense	probably benign	0.04
R9792:Zfp819	UTSW	7	43,261,519 (GRCm39)	missense	possibly damaging	0.93
Z1176:Zfp819	UTSW	7	43,267,111 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21