Mutagenetix > Incidental Mutations

Incidental Mutation 'R8124:Zfp719'

631641

Institutional Source

Beutler Lab

Gene Symbol

Zfp719

Ensembl Gene

ENSMUSG00000030469

Gene Name

zinc finger protein 719

Synonyms

9430094P17Rik, mszf6, C630016O21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43579610-43593235 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43589890 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 301 (T301A)

Ref Sequence

ENSEMBL: ENSMUSP00000050968 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000058104
AA Change: T301A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050968
Gene: ENSMUSG00000030469
AA Change: T301A

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

probably benign
Transcript: ENSMUST00000205769

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.5%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap3	T	A	5: 24,478,130	I320N	probably benign	Het
Ahnak	G	A	19: 9,007,123	G1924S	probably damaging	Het
Ap2a2	G	A	7: 141,598,844	R141H	probably benign	Het
Atf7ip2	T	C	16: 10,209,135	V89A	possibly damaging	Het
Clpsl2	G	A	17: 28,550,728	G55R	probably damaging	Het
Csnk2a2	G	A	8: 95,455,947	P296L		Het
Dab2	T	A	15: 6,429,397	C263*	probably null	Het
Dao	AGG	AG	5: 114,015,209		probably benign	Het
Ddx60	C	T	8: 61,983,911	A965V	probably benign	Het
Dennd5a	A	T	7: 109,897,935	I1119N	probably damaging	Het
Dpy30	A	G	17: 74,316,104		probably benign	Het
Epg5	G	A	18: 77,964,996	A780T	probably benign	Het
Etl4	A	G	2: 20,806,640	D1546G	probably benign	Het
Evl	C	T	12: 108,681,524	R295*	probably null	Het
F13a1	T	C	13: 37,025,805	K62R	probably damaging	Het
Gm2832	T	C	14: 41,278,937	M44T		Het
Gm884	A	G	11: 103,620,431	V237A	unknown	Het
Gm9195	T	C	14: 72,442,623	I2249V	probably benign	Het
Hmcn2	T	C	2: 31,400,124	V2323A	probably benign	Het
Ice2	T	A	9: 69,400,495	N20K	probably damaging	Het
Klf15	T	C	6: 90,466,881	F146S	probably damaging	Het
Lgi3	A	G	14: 70,534,738	Y241C	probably damaging	Het
Lig4	A	T	8: 9,972,954	D275E	probably damaging	Het
Lrit1	T	A	14: 37,062,048	S444R	probably benign	Het
Mip	T	C	10: 128,226,201	V107A	possibly damaging	Het
Myo15	G	A	11: 60,507,453	V1581M		Het
Nckap1l	A	G	15: 103,473,821	D481G	possibly damaging	Het
Obox3	A	T	7: 15,589,949		probably null	Het
Olfr1438-ps1	T	A	19: 12,333,470	N129Y	probably damaging	Het
Olfr491	C	A	7: 108,317,777	N294K	possibly damaging	Het
Olfr707	G	A	7: 106,891,881	T76I	possibly damaging	Het
Olfr749	C	T	14: 50,736,286	R292H	probably benign	Het
Olfr944	T	C	9: 39,217,671	F105L	probably benign	Het
Papd7	G	A	13: 69,533,597		probably benign	Het
Pilrb2	T	A	5: 137,871,044	E98V	probably damaging	Het
Plekhm1	A	G	11: 103,366,949	V1053A	probably benign	Het
Prdm2	A	T	4: 143,135,265	V485E	probably damaging	Het
Riox2	G	A	16: 59,486,591	E282K	probably benign	Het
Rps6ka2	T	A	17: 7,281,829	V379E	possibly damaging	Het
Skiv2l2	A	C	13: 112,927,337	D7E	probably benign	Het
Slc4a7	G	A	14: 14,729,211	E20K	possibly damaging	Het
Sned1	G	A	1: 93,282,989		probably null	Het
Spata3	C	T	1: 86,024,353	R110C	unknown	Het
St6gal1	G	A	16: 23,357,835	A393T	probably benign	Het
Tmem132d	T	C	5: 127,792,560	Q570R	probably damaging	Het
Tmem87a	T	C	2: 120,392,195	T168A	probably benign	Het
Trank1	A	G	9: 111,378,927	R1747G	probably benign	Het
Txk	C	T	5: 72,703,263		probably null	Het
Vcan	T	A	13: 89,704,254	L862F	possibly damaging	Het
Wdr64	A	T	1: 175,799,278		probably null	Het
Zfp106	G	T	2: 120,524,331	Q1343K	probably benign	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
R0524: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

Predicted Primers

PCR Primer
(F):5'- ACCGAGAGTCAGTTTGGAAAC -3'
(R):5'- TCCTGAATGATTCTCCACAGTGAAAG -3'

Sequencing Primer
(F):5'- AAACATTGTTTCTCTTAATCCACCAC -3'
(R):5'- ACAGTCACTGCATGTGTACG -3'

Posted On

2020-06-30