Mutagenetix > Incidental Mutation

Incidental Mutation 'R6192:Zfp709'

502652

Institutional Source

Beutler Lab

Gene Symbol

Zfp709

Ensembl Gene

ENSMUSG00000056019

Gene Name

zinc finger protein 709

Synonyms

GIOT-4

MMRRC Submission

044332-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R6192 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

72635912-72646409 bp(+) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

TCGACG to TCG at 72644552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034259] [ENSMUST00000188374] [ENSMUST00000188685]

AlphaFold

Q8VC29

Predicted Effect

probably benign
Transcript: ENSMUST00000034259

SMART Domains

Protein: ENSMUSP00000034259
Gene: ENSMUSG00000056019

Domain	Start	End	E-Value	Type
KRAB	3	68	3.08e-15	SMART
ZnF_C2H2	224	246	6.78e-3	SMART
ZnF_C2H2	252	274	2.09e-3	SMART
ZnF_C2H2	280	302	2.05e-2	SMART
ZnF_C2H2	308	330	2.4e-3	SMART
ZnF_C2H2	336	358	1.36e-2	SMART
ZnF_C2H2	364	386	1.36e-2	SMART
ZnF_C2H2	392	414	1.69e-3	SMART
ZnF_C2H2	420	442	5.14e-3	SMART
ZnF_C2H2	448	470	1.67e-2	SMART
ZnF_C2H2	476	498	1.1e-2	SMART
ZnF_C2H2	504	526	2.86e-1	SMART
ZnF_C2H2	532	554	7.26e-3	SMART
ZnF_C2H2	560	582	8.34e-3	SMART
ZnF_C2H2	588	610	1.5e-4	SMART
ZnF_C2H2	616	638	1.18e-2	SMART
ZnF_C2H2	644	666	1.06e-4	SMART
ZnF_C2H2	672	694	1.18e-2	SMART
ZnF_C2H2	700	722	8.94e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188374

SMART Domains

Protein: ENSMUSP00000141000
Gene: ENSMUSG00000056019

Domain	Start	End	E-Value	Type
KRAB	4	56	9.2e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188685

SMART Domains

Protein: ENSMUSP00000140285
Gene: ENSMUSG00000056019

Domain	Start	End	E-Value	Type
KRAB	4	69	3.08e-15	SMART
ZnF_C2H2	225	247	6.78e-3	SMART
ZnF_C2H2	253	275	2.09e-3	SMART
ZnF_C2H2	281	303	2.05e-2	SMART
ZnF_C2H2	309	331	2.4e-3	SMART
ZnF_C2H2	337	359	1.36e-2	SMART
ZnF_C2H2	365	387	1.36e-2	SMART
ZnF_C2H2	393	415	1.69e-3	SMART
ZnF_C2H2	421	443	5.14e-3	SMART
ZnF_C2H2	449	471	1.67e-2	SMART
ZnF_C2H2	477	499	1.1e-2	SMART
ZnF_C2H2	505	527	2.86e-1	SMART
ZnF_C2H2	533	555	7.26e-3	SMART
ZnF_C2H2	561	583	8.34e-3	SMART
ZnF_C2H2	589	611	1.5e-4	SMART
ZnF_C2H2	617	639	1.18e-2	SMART
ZnF_C2H2	645	667	1.06e-4	SMART
ZnF_C2H2	673	695	1.18e-2	SMART
ZnF_C2H2	701	723	8.94e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203585

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,774,002 (GRCm39)	E1137G	probably damaging	Het
Adcy9	T	C	16: 4,105,818 (GRCm39)	I1099V	probably benign	Het
Angptl4	A	T	17: 33,996,015 (GRCm39)	N320K	probably benign	Het
Atp6v0a2	G	A	5: 124,767,268 (GRCm39)	M10I	probably benign	Het
Bltp1	C	T	3: 37,042,318 (GRCm39)	T2768I	probably benign	Het
Cbfa2t3	A	G	8: 123,361,135 (GRCm39)	S395P	probably benign	Het
Cenpe	C	T	3: 134,954,291 (GRCm39)	T1716I	possibly damaging	Het
Chsy1	T	C	7: 65,820,625 (GRCm39)	Y287H	probably benign	Het
Col4a4	G	T	1: 82,462,151 (GRCm39)	P1075T	probably damaging	Het
Cryab	T	A	9: 50,665,813 (GRCm39)	M68K	probably damaging	Het
Cybrd1	T	A	2: 70,967,858 (GRCm39)	L143Q	probably null	Het
Dcaf7	T	C	11: 105,942,584 (GRCm39)	V177A	probably damaging	Het
Dclk2	T	C	3: 86,722,457 (GRCm39)	Y392C	probably damaging	Het
Ddx20	T	C	3: 105,586,036 (GRCm39)	T770A	probably benign	Het
Dennd1b	T	A	1: 139,095,456 (GRCm39)	D501E	probably benign	Het
Dgkh	A	T	14: 78,865,504 (GRCm39)	Y26*	probably null	Het
Dnajc2	A	G	5: 21,973,646 (GRCm39)	V196A	probably damaging	Het
Etl4	A	G	2: 20,806,362 (GRCm39)	K827E	probably damaging	Het
Fam8a1	C	T	13: 46,823,099 (GRCm39)	P13L	probably damaging	Het
Gfra3	T	C	18: 34,837,582 (GRCm39)	S139G	possibly damaging	Het
Ggnbp1	G	A	17: 27,248,847 (GRCm39)	V139I	possibly damaging	Het
Gja1	T	A	10: 56,264,330 (GRCm39)	Y230N	probably damaging	Het
Gldc	A	G	19: 30,111,172 (GRCm39)	S535P	probably damaging	Het
Gm45871	A	G	18: 90,610,357 (GRCm39)	T532A	probably benign	Het
Gm5431	T	A	11: 48,785,220 (GRCm39)	D107V	probably benign	Het
Herc2	C	T	7: 55,857,510 (GRCm39)	T4031M	probably damaging	Het
Iffo2	G	A	4: 139,333,769 (GRCm39)	A282T	probably damaging	Het
Ifi44	T	G	3: 151,451,276 (GRCm39)		probably null	Het
Igkv4-53	C	T	6: 69,625,915 (GRCm39)	R62H	possibly damaging	Het
Lrp11	A	C	10: 7,474,454 (GRCm39)		probably null	Het
Lrp4	A	G	2: 91,338,833 (GRCm39)	T1755A	probably benign	Het
Mcm3ap	A	T	10: 76,336,934 (GRCm39)	K1316M	probably damaging	Het
Mctp1	T	G	13: 76,971,082 (GRCm39)		probably null	Het
Mroh5	A	T	15: 73,662,630 (GRCm39)	I396N	probably damaging	Het
Mrps5	T	A	2: 127,443,305 (GRCm39)	H294Q	probably damaging	Het
Muc16	A	T	9: 18,569,985 (GRCm39)	S845T	unknown	Het
Mycbpap	A	T	11: 94,398,557 (GRCm39)	V474E	probably damaging	Het
Mzt2	G	C	16: 15,666,551 (GRCm39)	S122W	probably benign	Het
Neb	T	C	2: 52,146,802 (GRCm39)	I2821V	probably benign	Het
Ngef	A	T	1: 87,415,622 (GRCm39)	D347E	probably damaging	Het
Nlrp14	T	C	7: 106,781,646 (GRCm39)	V281A	probably benign	Het
Obscn	A	T	11: 58,888,864 (GRCm39)	Y7597N	unknown	Het
Or4k47	T	C	2: 111,451,520 (GRCm39)	R300G	possibly damaging	Het
Patj	G	T	4: 98,344,394 (GRCm39)	G569W	probably damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Phf2	T	A	13: 48,973,583 (GRCm39)	T361S	unknown	Het
Pik3r6	A	G	11: 68,434,455 (GRCm39)	E552G	probably damaging	Het
Pitx2	A	G	3: 129,009,521 (GRCm39)	T147A	probably benign	Het
Pkmyt1	G	A	17: 23,953,167 (GRCm39)	G241D	probably damaging	Het
Pola2	A	T	19: 6,003,802 (GRCm39)	V191D	possibly damaging	Het
Ralgapb	T	A	2: 158,291,367 (GRCm39)		probably null	Het
Rapgef4	T	C	2: 71,811,661 (GRCm39)	S11P	probably benign	Het
Rnf10	G	A	5: 115,395,136 (GRCm39)	R151C	probably damaging	Het
Rpl34	G	A	3: 130,522,716 (GRCm39)	P50L	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sbno2	A	T	10: 79,895,850 (GRCm39)	L977Q	probably damaging	Het
Sec14l3	G	A	11: 4,025,566 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,600,612 (GRCm39)	N243K	possibly damaging	Het
Slco2b1	T	A	7: 99,334,779 (GRCm39)	I231F	probably damaging	Het
Spag8	A	G	4: 43,652,458 (GRCm39)	F294S	probably damaging	Het
Speer4f1	G	A	5: 17,684,493 (GRCm39)	A174T	probably damaging	Het
Spred3	T	C	7: 28,862,402 (GRCm39)	D147G	probably benign	Het
Stard9	A	G	2: 120,527,241 (GRCm39)	D1166G	probably damaging	Het
Svep1	G	T	4: 58,104,536 (GRCm39)	T1229K	possibly damaging	Het
Tanc1	T	A	2: 59,669,305 (GRCm39)		probably null	Het
Tmem232	T	C	17: 65,737,800 (GRCm39)	Y420C	probably damaging	Het
Tubd1	A	T	11: 86,448,619 (GRCm39)	M311L	probably benign	Het
Tulp3	G	A	6: 128,332,703 (GRCm39)		probably null	Het
Usp42	T	C	5: 143,702,942 (GRCm39)	T560A	possibly damaging	Het
Vmn1r170	A	T	7: 23,305,934 (GRCm39)	Y112F	probably damaging	Het
Vmn2r4	A	T	3: 64,322,699 (GRCm39)	C7S	probably benign	Het
Wrn	A	G	8: 33,774,682 (GRCm39)	M652T	probably benign	Het
Wsb1	G	A	11: 79,139,336 (GRCm39)	P120L	possibly damaging	Het
Zfp142	T	C	1: 74,609,667 (GRCm39)	E1376G	probably damaging	Het

Other mutations in Zfp709

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03174:Zfp709	APN	8	72,642,870 (GRCm39)	missense	probably benign	0.03
IGL03187:Zfp709	APN	8	72,643,126 (GRCm39)	missense	probably benign	0.41
BB007:Zfp709	UTSW	8	72,644,684 (GRCm39)	missense	probably damaging	0.97
BB017:Zfp709	UTSW	8	72,644,684 (GRCm39)	missense	probably damaging	0.97
R0336:Zfp709	UTSW	8	72,644,449 (GRCm39)	missense	probably damaging	1.00
R1386:Zfp709	UTSW	8	72,644,506 (GRCm39)	missense	probably damaging	0.99
R1878:Zfp709	UTSW	8	72,643,891 (GRCm39)	missense	probably damaging	1.00
R2279:Zfp709	UTSW	8	72,642,934 (GRCm39)	missense	probably benign	0.31
R2320:Zfp709	UTSW	8	72,641,136 (GRCm39)	missense	probably damaging	1.00
R2885:Zfp709	UTSW	8	72,643,549 (GRCm39)	missense	probably benign	0.08
R3833:Zfp709	UTSW	8	72,642,906 (GRCm39)	missense	probably benign	0.00
R3926:Zfp709	UTSW	8	72,644,397 (GRCm39)	missense	probably damaging	1.00
R4165:Zfp709	UTSW	8	72,644,649 (GRCm39)	nonsense	probably null
R4179:Zfp709	UTSW	8	72,643,750 (GRCm39)	missense	probably damaging	1.00
R4963:Zfp709	UTSW	8	72,643,632 (GRCm39)	missense	probably benign	0.27
R5340:Zfp709	UTSW	8	72,643,596 (GRCm39)	missense	probably damaging	1.00
R5427:Zfp709	UTSW	8	72,642,976 (GRCm39)	missense	probably benign	0.27
R5513:Zfp709	UTSW	8	72,643,900 (GRCm39)	missense	probably damaging	1.00
R5639:Zfp709	UTSW	8	72,643,835 (GRCm39)	splice site	probably null
R5692:Zfp709	UTSW	8	72,643,999 (GRCm39)	missense	probably damaging	1.00
R5872:Zfp709	UTSW	8	72,643,363 (GRCm39)	missense	probably benign	0.03
R5940:Zfp709	UTSW	8	72,644,064 (GRCm39)	missense	possibly damaging	0.85
R6210:Zfp709	UTSW	8	72,644,552 (GRCm39)	small deletion	probably benign
R6225:Zfp709	UTSW	8	72,644,552 (GRCm39)	small deletion	probably benign
R6227:Zfp709	UTSW	8	72,644,552 (GRCm39)	small deletion	probably benign
R6228:Zfp709	UTSW	8	72,644,552 (GRCm39)	small deletion	probably benign
R6246:Zfp709	UTSW	8	72,644,552 (GRCm39)	small deletion	probably benign
R6247:Zfp709	UTSW	8	72,644,552 (GRCm39)	small deletion	probably benign
R6248:Zfp709	UTSW	8	72,644,552 (GRCm39)	small deletion	probably benign
R6249:Zfp709	UTSW	8	72,644,552 (GRCm39)	small deletion	probably benign
R6250:Zfp709	UTSW	8	72,644,552 (GRCm39)	small deletion	probably benign
R6258:Zfp709	UTSW	8	72,644,552 (GRCm39)	small deletion	probably benign
R6259:Zfp709	UTSW	8	72,644,552 (GRCm39)	small deletion	probably benign
R6371:Zfp709	UTSW	8	72,643,329 (GRCm39)	missense	probably damaging	1.00
R6875:Zfp709	UTSW	8	72,642,851 (GRCm39)	missense	possibly damaging	0.93
R7871:Zfp709	UTSW	8	72,643,308 (GRCm39)	missense	probably benign	0.02
R7930:Zfp709	UTSW	8	72,644,684 (GRCm39)	missense	probably damaging	0.97
R7943:Zfp709	UTSW	8	72,643,933 (GRCm39)	missense	probably damaging	1.00
R8202:Zfp709	UTSW	8	72,642,760 (GRCm39)	splice site	probably null
R8555:Zfp709	UTSW	8	72,643,476 (GRCm39)	missense	probably benign	0.04
R8735:Zfp709	UTSW	8	72,643,027 (GRCm39)	missense	probably benign	0.01
R9109:Zfp709	UTSW	8	72,644,648 (GRCm39)	missense	possibly damaging	0.86
R9298:Zfp709	UTSW	8	72,644,648 (GRCm39)	missense	possibly damaging	0.86
R9485:Zfp709	UTSW	8	72,643,669 (GRCm39)	missense	possibly damaging	0.77
R9740:Zfp709	UTSW	8	72,643,134 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTCTTCTTTGAGTGGTTGTCAAA -3'
(R):5'- GCTAAGAATGCCTTTCCATGTTCTAT -3'

Sequencing Primer
(F):5'- GGGAAAGCCTTTACTAATCCCAGTG -3'
(R):5'- ATACTTAGGGACTTCTACTGTGAGTC -3'

Posted On

2018-02-27