Mutagenetix > Incidental Mutation

Incidental Mutation 'R8001:Zfp619'

616360

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

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39517766-39540420 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39535221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 225 (K225R)

Ref Sequence

ENSEMBL: ENSMUSP00000103650 (fasta)

Gene Model

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

AlphaFold

G3X9T2

Predicted Effect

probably benign
Transcript: ENSMUST00000108015
AA Change: K225R

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103650
Gene: ENSMUSG00000068959
AA Change: K225R

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	G	1: 93,154,599	L266P	probably damaging	Het
Acr	A	G	15: 89,573,962	Y282C	probably damaging	Het
Alkbh4	A	G	5: 136,140,269	R136G	probably damaging	Het
Bptf	C	A	11: 107,047,340	E2*	probably null	Het
Cse1l	T	A	2: 166,939,913	F659Y	probably damaging	Het
Ctrc	A	T	4: 141,840,360	L144Q	probably damaging	Het
Elmo1	A	G	13: 20,286,732	I265V	probably benign	Het
Erich3	T	C	3: 154,713,916	S19P	probably benign	Het
Hmcn1	A	T	1: 150,664,878	C2893*	probably null	Het
Hnrnpll	G	A	17: 80,038,723	Q370*	probably null	Het
Itpkb	T	C	1: 180,332,494	S62P	probably damaging	Het
Lig3	T	A	11: 82,792,076	C501S	probably benign	Het
Nrxn1	C	T	17: 91,088,536	R64H	possibly damaging	Het
Ogfod2	T	G	5: 124,114,883	C319G	probably damaging	Het
Olfr1474	A	G	19: 13,471,422	I109V	probably benign	Het
Olfr201	T	C	16: 59,269,109	N186S	probably benign	Het
Olfr555	A	T	7: 102,659,034	D71V	probably damaging	Het
Olfr827	A	G	10: 130,210,860	V90A	probably benign	Het
Pabpc6	C	A	17: 9,669,373	R83L	probably damaging	Het
Pcdhgb2	A	T	18: 37,690,634	Q226L	probably benign	Het
Pole	A	T	5: 110,312,734	I1127F	probably damaging	Het
Psg22	A	T	7: 18,719,746	Q161L	possibly damaging	Het
Slc17a7	A	T	7: 45,168,788	T46S	probably benign	Het
Smad4	A	G	18: 73,641,810	S473P	probably damaging	Het
Snap47	T	A	11: 59,438,354	T41S	probably benign	Het
Snx21	T	C	2: 164,786,737	L100P	probably benign	Het
Stc1	T	A	14: 69,038,395	N212K	probably benign	Het
Stk32a	A	T	18: 43,315,144	N396I	possibly damaging	Het
Stox2	G	A	8: 47,186,477	P894L	probably benign	Het
Trav16d-dv11	A	G	14: 53,047,287	M1V	probably null	Het
Trim33	T	C	3: 103,311,515		probably null	Het
Tyrp1	T	C	4: 80,840,670	V260A	probably benign	Het
Ush2a	T	C	1: 188,911,064	Y4208H	probably damaging	Het
Vmn1r25	T	A	6: 57,979,080	K75*	probably null	Het
Vmn2r117	T	A	17: 23,479,407	N64I	possibly damaging	Het
Wdfy4	C	T	14: 32,973,535		probably null	Het
Wnt8a	A	T	18: 34,545,516	I128F	probably damaging	Het
Zc3h7b	C	A	15: 81,779,260	Y484*	probably null	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
R6560:Zfp619	UTSW	7	39537530	missense	probably damaging	1.00
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
R8559:Zfp619	UTSW	7	39537135	missense	probably benign	0.31
R8775:Zfp619	UTSW	7	39535215	missense	possibly damaging	0.75
R8775-TAIL:Zfp619	UTSW	7	39535215	missense	possibly damaging	0.75
R9014:Zfp619	UTSW	7	39537822	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTGGCACTGGTGAGCAAATT -3'
(R):5'- ATGTCTTTGAAGGGAACTGTGG -3'

Sequencing Primer
(F):5'- CTCATTTTGCAGCAGCGAAG -3'
(R):5'- CCTGAAGATTACTGAGGCGTC -3'

Posted On

2020-01-23