Mutagenetix > Incidental Mutation

Incidental Mutation 'R1301:Zfp819'

158368

Institutional Source

Beutler Lab

Gene Symbol

Zfp819

Ensembl Gene

ENSMUSG00000055102

Gene Name

zinc finger protein 819

Synonyms

4933405K07Rik, 4930427I11Rik

MMRRC Submission

039367-MU

Accession Numbers

Essential gene?

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

Stock #

R1301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43256593-43267709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43266524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 260 (S260T)

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: S336T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000032661
Gene: ENSMUSG00000055102
AA Change: S336T

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: S336T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112026
Gene: ENSMUSG00000055102
AA Change: S336T

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: ENSMUST00000120935
AA Change: S260T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113867
Gene: ENSMUSG00000055102
AA Change: S260T

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

0.1795

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.3%
20x: 82.6%

Validation Efficiency

96% (67/70)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,291,635 (GRCm39)	I24L	probably benign	Het
Ano1	A	G	7: 144,187,426 (GRCm39)	W447R	possibly damaging	Het
Blm	T	A	7: 80,105,165 (GRCm39)	K103*	probably null	Het
Camta2	A	G	11: 70,567,230 (GRCm39)	I675T	probably benign	Het
Catsperz	G	A	19: 6,902,450 (GRCm39)	R15C	probably damaging	Het
Chd1l	T	C	3: 97,510,964 (GRCm39)		probably benign	Het
Corin	C	A	5: 72,462,276 (GRCm39)	E844D	possibly damaging	Het
Cyb5rl	T	G	4: 106,938,104 (GRCm39)	M127R	probably damaging	Het
Dcdc2a	A	T	13: 25,286,569 (GRCm39)	N164I	possibly damaging	Het
Dnah6	A	G	6: 73,185,528 (GRCm39)		probably null	Het
Emilin2	T	C	17: 71,562,960 (GRCm39)		probably benign	Het
Epb41l2	T	A	10: 25,319,800 (GRCm39)	V211D	probably damaging	Het
Fbxo47	C	T	11: 97,759,427 (GRCm39)	M166I	probably benign	Het
Golm1	T	C	13: 59,786,187 (GRCm39)	D335G	probably damaging	Het
Gpn1	T	A	5: 31,660,773 (GRCm39)	M188K	probably damaging	Het
Gpr84	T	A	15: 103,217,646 (GRCm39)	S144C	probably damaging	Het
Grm8	G	T	6: 27,981,200 (GRCm39)	Q237K	possibly damaging	Het
Gsdmd	C	A	15: 75,738,908 (GRCm39)		probably null	Het
Hmgcr	G	A	13: 96,795,528 (GRCm39)	T347I	probably damaging	Het
Hsd17b7	T	A	1: 169,788,774 (GRCm39)		probably benign	Het
Hsd3b9	G	A	3: 98,354,182 (GRCm39)	Q106*	probably null	Het
Klhl7	T	G	5: 24,364,489 (GRCm39)	W508G	probably damaging	Het
Lrp2	C	A	2: 69,258,948 (GRCm39)	D4581Y	probably damaging	Het
Lrrc7	T	C	3: 157,840,968 (GRCm39)	N1357D	probably benign	Het
Macf1	T	C	4: 123,380,451 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,577,692 (GRCm39)	T329A	probably damaging	Het
Mroh9	C	T	1: 162,871,552 (GRCm39)		probably null	Het
Mta2	A	G	19: 8,926,550 (GRCm39)		probably benign	Het
Myo3a	A	T	2: 22,271,906 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,384,352 (GRCm39)	D153G	probably benign	Het
Nup133	T	C	8: 124,644,156 (GRCm39)		probably benign	Het
Nup210	C	T	6: 91,019,329 (GRCm39)	V259M	possibly damaging	Het
Or10ak14	C	T	4: 118,610,816 (GRCm39)	M308I	probably benign	Het
Or5b112	A	T	19: 13,319,211 (GRCm39)	I30F	probably benign	Het
Or9i14	A	T	19: 13,792,726 (GRCm39)	V76D	probably damaging	Het
Otog	C	T	7: 45,939,113 (GRCm39)	R2048C	probably damaging	Het
Pacc1	T	C	1: 191,080,632 (GRCm39)	V284A	probably damaging	Het
Paqr7	T	C	4: 134,235,124 (GRCm39)	L327P	probably damaging	Het
Parl	A	G	16: 20,105,676 (GRCm39)	S249P	probably damaging	Het
Phc1	A	G	6: 122,302,833 (GRCm39)	I230T	probably benign	Het
Pitpnm1	T	G	19: 4,160,831 (GRCm39)		probably null	Het
Plpp1	A	G	13: 112,971,477 (GRCm39)	Y48C	probably damaging	Het
Pxdc1	A	G	13: 34,812,870 (GRCm39)	F194L	probably benign	Het
Rp1	A	T	1: 4,416,159 (GRCm39)	V1651D	possibly damaging	Het
Serpinb1c	T	A	13: 33,080,943 (GRCm39)	R47*	probably null	Het
Sis	T	C	3: 72,853,915 (GRCm39)	T521A	possibly damaging	Het
Slc16a9	A	G	10: 70,118,308 (GRCm39)	D209G	probably benign	Het
Slc26a4	A	T	12: 31,575,567 (GRCm39)	C706*	probably null	Het
Slc37a2	A	G	9: 37,148,177 (GRCm39)	V325A	probably benign	Het
Speg	T	A	1: 75,378,145 (GRCm39)	D784E	probably damaging	Het
Sycp1	T	C	3: 102,827,938 (GRCm39)	I270V	probably benign	Het
Tatdn2	T	A	6: 113,681,076 (GRCm39)	F309I	probably damaging	Het
Tmem67	T	C	4: 12,089,400 (GRCm39)		probably benign	Het
Trpm1	T	A	7: 63,852,801 (GRCm39)		probably null	Het
Wrn	T	C	8: 33,782,714 (GRCm39)	R496G	probably damaging	Het
Zfhx2	A	G	14: 55,300,854 (GRCm39)	V2299A	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
IGL01732:Zfp819	APN	7	43,265,846 (GRCm39)	missense	probably benign	0.13
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
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

Predicted Primers

PCR Primer
(F):5'- TTTGTGTCAGCAGCAAACAACTAACCC -3'
(R):5'- GCATAGACAAACAATTTCCCGCAGTG -3'

Sequencing Primer
(F):5'- CCACATATGTGGGAAATCCTTCC -3'
(R):5'- CCCAGTGTGGATTCTCCGATG -3'

Posted On

2014-02-18