Mutagenetix > Incidental Mutations

Incidental Mutation 'R6560:Zfp619'

522012

Institutional Source

Beutler Lab

Gene Symbol

Zfp619

Ensembl Gene

ENSMUSG00000068959

Gene Name

zinc finger protein 619

Synonyms

3000002G13Rik

MMRRC Submission

Accession Numbers

Genbank: NM_001004139; MGI: 1917477

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6560 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39517766-39540420 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39537530 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 995 (E995K)

Ref Sequence

ENSEMBL: ENSMUSP00000103650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108015]

Predicted Effect

probably damaging
Transcript: ENSMUST00000108015
AA Change: E995K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103650
Gene: ENSMUSG00000068959
AA Change: E995K

Domain	Start	End	E-Value	Type
KRAB	4	61	2.19e-20	SMART
ZnF_C2H2	218	240	2.91e-2	SMART
ZnF_C2H2	246	268	5.81e-2	SMART
ZnF_C2H2	274	296	3.16e-3	SMART
ZnF_C2H2	302	324	2.4e-3	SMART
ZnF_C2H2	330	352	2.95e-3	SMART
ZnF_C2H2	358	380	6.32e-3	SMART
ZnF_C2H2	386	408	8.47e-4	SMART
ZnF_C2H2	414	436	5.06e-2	SMART
ZnF_C2H2	442	464	1.58e-3	SMART
ZnF_C2H2	470	492	5.42e-2	SMART
ZnF_C2H2	526	548	2.09e-3	SMART
ZnF_C2H2	554	576	3.39e-3	SMART
ZnF_C2H2	582	604	1.56e-2	SMART
ZnF_C2H2	610	632	2.24e-3	SMART
ZnF_C2H2	638	660	4.72e-2	SMART
ZnF_C2H2	666	688	7.78e-3	SMART
ZnF_C2H2	694	716	5.9e-3	SMART
ZnF_C2H2	722	744	1.12e-3	SMART
ZnF_C2H2	748	770	6.42e-4	SMART
ZnF_C2H2	776	798	1.38e-3	SMART
ZnF_C2H2	804	826	9.44e-2	SMART
ZnF_C2H2	832	854	2.36e-2	SMART
ZnF_C2H2	860	882	8.94e-3	SMART
ZnF_C2H2	888	910	3.58e-2	SMART
ZnF_C2H2	916	938	6.42e-4	SMART
ZnF_C2H2	942	964	4.72e-2	SMART
ZnF_C2H2	970	992	2.3e-5	SMART
ZnF_C2H2	998	1020	8.34e-3	SMART
ZnF_C2H2	1026	1048	8.81e-2	SMART
ZnF_C2H2	1054	1076	1.69e-3	SMART
ZnF_C2H2	1082	1104	6.32e-3	SMART
ZnF_C2H2	1110	1132	1.47e-3	SMART
ZnF_C2H2	1138	1160	7.15e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc finger proteins (ZNFs), such as ZNF208, bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions (Eichler et al., 1998 [PubMed 9724325]). See ZNF91 (MIM 603971) for further information on ZNFs.[supplied by OMIM, Aug 2009]

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 80,007,396	L1235Q	probably damaging	Het
Acin1	T	C	14: 54,678,833	T174A	probably benign	Het
Adamtsl1	G	A	4: 86,336,893	R733H	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Arsk	A	T	13: 76,074,986	I164N	probably benign	Het
Bbs5	T	A	2: 69,656,956	N194K	probably damaging	Het
Bicra	T	C	7: 15,989,194	T133A	possibly damaging	Het
Card6	G	A	15: 5,098,885	P1010S	probably damaging	Het
Ccdc18	T	A	5: 108,191,924	N778K	probably benign	Het
Cept1	T	C	3: 106,505,278	I240V	possibly damaging	Het
Crip3	A	G	17: 46,431,036	R150G	probably damaging	Het
Cyp2c50	A	G	19: 40,096,855	T320A	probably benign	Het
Dio2	G	C	12: 90,729,833	S127*	probably null	Het
Dscam	T	C	16: 96,825,735	S325G	probably benign	Het
Exosc4	A	G	15: 76,327,613	I41V	probably benign	Het
Glb1l3	C	T	9: 26,828,424		probably null	Het
Gm10801	C	CGTG	2: 98,663,807		probably null	Het
Gm3072	T	A	14: 41,623,553	D89V	unknown	Het
Gosr2	T	C	11: 103,686,682	H79R	probably damaging	Het
Has2	T	A	15: 56,668,264	T352S	probably damaging	Het
Insig1	T	A	5: 28,071,533	C32*	probably null	Het
Klf9	A	G	19: 23,141,950	S66G	probably damaging	Het
Mfn1	T	C	3: 32,569,516	I263T	probably damaging	Het
Myl2	G	A	5: 122,102,771	G38R	probably null	Het
Negr1	A	G	3: 157,312,857	T332A	probably benign	Het
Neo1	A	G	9: 58,880,601	S1417P	possibly damaging	Het
Olfr599	T	C	7: 103,338,738	F228S	probably benign	Het
Olfr859	G	A	9: 19,809,116	S266N	probably benign	Het
Pcgf3	C	A	5: 108,473,902	H35Q	probably damaging	Het
Plppr5	A	G	3: 117,671,990	I297V	probably benign	Het
Plxna4	C	T	6: 32,215,678	V783M	probably damaging	Het
Prx	A	T	7: 27,515,321	Q85H	probably damaging	Het
Tex14	T	G	11: 87,497,862	M305R	possibly damaging	Het
Wdr63	T	C	3: 146,095,406	E99G	possibly damaging	Het
Ythdc1	T	C	5: 86,816,608	V92A	probably benign	Het
Zfp90	A	G	8: 106,415,747	R4G	probably damaging	Het

Other mutations in Zfp619

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02157:Zfp619	APN	7	39534864	missense	probably damaging	1.00
IGL02221:Zfp619	APN	7	39536910	missense	probably benign	0.00
IGL02625:Zfp619	APN	7	39534185	splice site	probably benign
3-1:Zfp619	UTSW	7	39536765	missense	probably damaging	1.00
R0035:Zfp619	UTSW	7	39537282	missense	probably damaging	1.00
R0035:Zfp619	UTSW	7	39537282	missense	probably damaging	1.00
R0113:Zfp619	UTSW	7	39537759	missense	probably benign	0.01
R0377:Zfp619	UTSW	7	39536797	nonsense	probably null
R0614:Zfp619	UTSW	7	39537675	missense	possibly damaging	0.79
R0848:Zfp619	UTSW	7	39536559	missense	probably damaging	1.00
R1157:Zfp619	UTSW	7	39536858	missense	probably damaging	0.98
R2047:Zfp619	UTSW	7	39537638	missense	probably damaging	0.99
R2074:Zfp619	UTSW	7	39534761	missense	probably benign	0.00
R2419:Zfp619	UTSW	7	39535883	missense	possibly damaging	0.71
R2571:Zfp619	UTSW	7	39537171	missense	probably damaging	1.00
R2890:Zfp619	UTSW	7	39534969	missense	probably benign	0.00
R3814:Zfp619	UTSW	7	39535399	missense	probably benign	0.01
R4003:Zfp619	UTSW	7	39537306	missense	possibly damaging	0.91
R4059:Zfp619	UTSW	7	39535399	missense	probably benign	0.01
R4503:Zfp619	UTSW	7	39536856	missense	probably damaging	1.00
R4664:Zfp619	UTSW	7	39534135	missense	probably benign	0.00
R4696:Zfp619	UTSW	7	39536988	missense	probably benign	0.00
R4895:Zfp619	UTSW	7	39537972	missense	possibly damaging	0.68
R4975:Zfp619	UTSW	7	39537080	missense	possibly damaging	0.90
R4977:Zfp619	UTSW	7	39537387	missense	probably damaging	1.00
R5049:Zfp619	UTSW	7	39535514	missense	probably benign	0.02
R5240:Zfp619	UTSW	7	39537218	missense	possibly damaging	0.68
R5468:Zfp619	UTSW	7	39535728	missense	unknown
R5546:Zfp619	UTSW	7	39535153	missense	probably benign	0.01
R5572:Zfp619	UTSW	7	39535239	missense	probably benign	0.01
R6106:Zfp619	UTSW	7	39535134	missense	probably benign	0.01
R6329:Zfp619	UTSW	7	39537545	missense	probably damaging	1.00
R6354:Zfp619	UTSW	7	39534819	missense	probably benign	0.02
R6395:Zfp619	UTSW	7	39537030	missense	possibly damaging	0.91
R6490:Zfp619	UTSW	7	39534162	missense	probably benign	0.00
R6713:Zfp619	UTSW	7	39537898	missense	probably damaging	0.99
R7011:Zfp619	UTSW	7	39537762	missense	probably damaging	1.00
R7022:Zfp619	UTSW	7	39534963	missense	probably benign	0.00
R7046:Zfp619	UTSW	7	39537363	missense	possibly damaging	0.95
R7206:Zfp619	UTSW	7	39535400	missense	probably benign	0.00
R7780:Zfp619	UTSW	7	39535008	missense	possibly damaging	0.68
R7787:Zfp619	UTSW	7	39536802	missense	possibly damaging	0.91
R8001:Zfp619	UTSW	7	39535221	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- GCGGGTTACCTTCGAATTCATGA -3'
(R):5'- ATGAATCCTTCTAAACTTTCCATAGC -3'

Sequencing Primer
(F):5'- tgagtgtaagcagtgtgg -3'
(R):5'- ACTTCGGAAGGCTTTAGCAC -3'

Posted On

2018-06-06