Mutagenetix > Incidental Mutation

Incidental Mutation 'R0524:Zfp719'

48779

Institutional Source

Beutler Lab

Gene Symbol

Zfp719

Ensembl Gene

ENSMUSG00000030469

Gene Name

zinc finger protein 719

Synonyms

9430094P17Rik, mszf6, C630016O21Rik

MMRRC Submission

038717-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0524 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

43579610-43593235 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 43589253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058104] [ENSMUST00000205769]

AlphaFold

Q8BIV1

Predicted Effect

probably null
Transcript: ENSMUST00000058104

SMART Domains

Protein: ENSMUSP00000050968
Gene: ENSMUSG00000030469

Domain	Start	End	E-Value	Type
KRAB	49	109	1.18e-20	SMART
ZnF_C2H2	285	305	4.16e1	SMART
ZnF_C2H2	341	363	1.2e-3	SMART
ZnF_C2H2	369	391	9.08e-4	SMART
ZnF_C2H2	397	419	6.67e-2	SMART
ZnF_C2H2	425	447	7.9e-4	SMART
ZnF_C2H2	453	475	3.34e-2	SMART
ZnF_C2H2	481	503	1.38e-3	SMART
ZnF_C2H2	509	531	5.42e-2	SMART
ZnF_C2H2	537	559	3.78e-1	SMART
ZnF_C2H2	565	587	2.43e-4	SMART
ZnF_C2H2	593	615	4.54e-4	SMART
ZnF_C2H2	621	643	4.24e-4	SMART
ZnF_C2H2	649	671	6.42e-4	SMART
ZnF_C2H2	677	699	1.47e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147075

Predicted Effect

probably null
Transcript: ENSMUST00000205769

Meta Mutation Damage Score

0.1528

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.4%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,747,059		probably benign	Het
Adamts16	T	C	13: 70,800,894	E216G	probably benign	Het
Aoc3	C	A	11: 101,337,511	P715T	probably damaging	Het
Bnipl	T	C	3: 95,249,829	D33G	probably benign	Het
Celsr2	T	C	3: 108,401,587	H1701R	probably damaging	Het
Clca3b	T	A	3: 144,825,321	H756L	probably benign	Het
Clca4a	A	G	3: 144,969,393	W159R	probably damaging	Het
Ddx49	A	T	8: 70,296,924	I252N	probably damaging	Het
Duox2	T	C	2: 122,281,836	T1290A	possibly damaging	Het
Fam111a	T	A	19: 12,588,048	I431K	probably damaging	Het
Fam135b	A	T	15: 71,462,284	D1020E	probably benign	Het
Flii	A	G	11: 60,720,061	V514A	probably damaging	Het
Frmpd1	G	A	4: 45,256,902	V157M	probably damaging	Het
Frmpd1	A	G	4: 45,283,774	D865G	probably benign	Het
Gm6970	T	A	19: 47,170,494	K214M	unknown	Het
Gsr	G	A	8: 33,669,180		probably null	Het
Hps3	A	T	3: 20,012,776	V542E	probably damaging	Het
Kcnj5	A	G	9: 32,322,974	I15T	probably benign	Het
Kif2b	T	C	11: 91,575,724	R578G	probably benign	Het
Lamb2	A	G	9: 108,484,372	R676G	possibly damaging	Het
Mrpl40	A	G	16: 18,873,552	F94S	possibly damaging	Het
Myo7b	C	T	18: 32,013,424	V103M	possibly damaging	Het
Nmt2	T	A	2: 3,305,437	W69R	probably benign	Het
Nsd3	C	A	8: 25,700,577	Q1130K	possibly damaging	Het
Olfml1	T	C	7: 107,590,177	S150P	probably damaging	Het
Olfr123	A	T	17: 37,795,605	K54*	probably null	Het
Olfr1471	A	G	19: 13,445,864	N284S	probably damaging	Het
Pask	A	T	1: 93,310,834	W1310R	probably damaging	Het
Pcdh18	T	C	3: 49,755,642	Q408R	probably damaging	Het
Pfkm	A	G	15: 98,131,607	I700V	probably benign	Het
Pias1	A	G	9: 62,952,178	V16A	probably damaging	Het
Pnpla8	C	T	12: 44,283,618	Q318*	probably null	Het
Ppp1cc	C	T	5: 122,172,770	R142*	probably null	Het
Pygl	T	A	12: 70,207,724	N149I	probably damaging	Het
Rapgef6	T	A	11: 54,690,284	S1285T	probably benign	Het
Rdh13	A	C	7: 4,444,297	C10W	probably damaging	Het
Rgr	A	T	14: 37,038,295	C273S	probably benign	Het
Ripk4	G	T	16: 97,755,287	Y22*	probably null	Het
Slc34a2	G	A	5: 53,064,873	W302*	probably null	Het
Smarce1	G	A	11: 99,214,062	T263M	probably damaging	Het
Sypl	C	T	12: 32,967,565	P94L	possibly damaging	Het
Tet3	A	G	6: 83,379,942	I878T	probably damaging	Het
Tmem232	A	G	17: 65,485,942	S87P	probably damaging	Het
Tmem260	A	G	14: 48,472,478	T163A	probably benign	Het
Ttn	T	C	2: 76,725,452	Y30403C	probably damaging	Het
Ubash3b	A	T	9: 41,016,608	M468K	probably benign	Het
Ulk4	A	G	9: 121,252,651		probably null	Het
Vmn1r72	A	G	7: 11,669,792	F243S	probably benign	Het
Wrap73	A	G	4: 154,145,307	Y45C	probably damaging	Het
Zfp704	T	C	3: 9,609,364	D119G	unknown	Het

Other mutations in Zfp719

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01392:Zfp719	APN	7	43591130	missense	probably damaging	1.00
IGL01407:Zfp719	APN	7	43584187	missense	probably benign	0.00
IGL01763:Zfp719	APN	7	43584189	missense	probably benign	0.00
IGL03079:Zfp719	APN	7	43591166	missense	probably damaging	1.00
R0522:Zfp719	UTSW	7	43589253	critical splice acceptor site	probably null
R0542:Zfp719	UTSW	7	43589253	critical splice acceptor site	probably null
R0543:Zfp719	UTSW	7	43589253	critical splice acceptor site	probably null
R0662:Zfp719	UTSW	7	43584254	missense	possibly damaging	0.56
R1390:Zfp719	UTSW	7	43590443	missense	possibly damaging	0.69
R2959:Zfp719	UTSW	7	43590427	missense	possibly damaging	0.89
R4708:Zfp719	UTSW	7	43590232	missense	probably damaging	1.00
R4709:Zfp719	UTSW	7	43590232	missense	probably damaging	1.00
R4710:Zfp719	UTSW	7	43590232	missense	probably damaging	1.00
R4716:Zfp719	UTSW	7	43591111	missense	possibly damaging	0.80
R4729:Zfp719	UTSW	7	43590410	missense	probably damaging	1.00
R4755:Zfp719	UTSW	7	43590793	missense	probably damaging	1.00
R5176:Zfp719	UTSW	7	43591125	missense	probably damaging	1.00
R5949:Zfp719	UTSW	7	43584117	intron	probably benign
R6063:Zfp719	UTSW	7	43589626	nonsense	probably null
R6363:Zfp719	UTSW	7	43589866	missense	probably benign	0.03
R6434:Zfp719	UTSW	7	43590988	missense	probably damaging	1.00
R6465:Zfp719	UTSW	7	43590684	nonsense	probably null
R6806:Zfp719	UTSW	7	43586385	missense	possibly damaging	0.63
R6925:Zfp719	UTSW	7	43590706	missense	probably damaging	1.00
R8124:Zfp719	UTSW	7	43589890	missense	probably benign
R9018:Zfp719	UTSW	7	43584065	intron	probably benign
R9043:Zfp719	UTSW	7	43590181	missense	possibly damaging	0.69
R9484:Zfp719	UTSW	7	43590157	missense	possibly damaging	0.70
R9556:Zfp719	UTSW	7	43589648	missense	probably damaging	0.99
R9647:Zfp719	UTSW	7	43584178	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGTCCAGTGTCCAGAAAGTTGCC -3'
(R):5'- TTTGGAAAGCACCAGGACTTACAGG -3'

Sequencing Primer
(F):5'- TTGCCTAGCACACATGAGTG -3'
(R):5'- CCAGGACTTACAGGCAGGAC -3'

Posted On

2013-06-12