Mutagenetix > Incidental Mutation

Incidental Mutation 'R7871:Zfp709'

608113

Institutional Source

Beutler Lab

Gene Symbol

Zfp709

Ensembl Gene

ENSMUSG00000056019

Gene Name

zinc finger protein 709

Synonyms

GIOT-4

MMRRC Submission

045923-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R7871 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72635912-72646409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72643308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 246 (I246V)

Ref Sequence

ENSEMBL: ENSMUSP00000140285 (fasta)

Gene Model

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

AlphaFold

Q8VC29

Predicted Effect

probably benign
Transcript: ENSMUST00000034259
AA Change: I245V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000034259
Gene: ENSMUSG00000056019
AA Change: I245V

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
AA Change: I246V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000140285
Gene: ENSMUSG00000056019
AA Change: I246V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (64/66)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,331,092 (GRCm39)	S1041P	probably benign	Het
Aatf	ACACACACACACACACACACACACACACACACACACACACACACACACAC	ACACACACACACACACACACACACACACACACACACACACACACACACACAC	11: 84,361,864 (GRCm39)		probably null	Het
Arpin	A	T	7: 79,577,463 (GRCm39)	W195R	probably damaging	Het
Asap1	A	G	15: 63,963,925 (GRCm39)	V1091A	probably damaging	Het
Asxl3	A	G	18: 22,657,281 (GRCm39)	T1764A	not run	Het
Bmp7	C	A	2: 172,781,784 (GRCm39)	A27S	probably benign	Het
Ccnh	T	A	13: 85,359,991 (GRCm39)	Y297*	probably null	Het
Ccno	C	A	13: 113,124,647 (GRCm39)	D72E	probably benign	Het
Cd70	T	G	17: 57,455,770 (GRCm39)	T67P	probably damaging	Het
Chml	CTGTTTG	CTG	1: 175,514,966 (GRCm39)		probably null	Het
Chst4	A	G	8: 110,757,545 (GRCm39)	F106S	probably damaging	Het
Cntnap3	A	C	13: 65,051,587 (GRCm39)	L23R	probably benign	Het
Crybg2	T	A	4: 133,814,910 (GRCm39)	L1288H	probably damaging	Het
Cse1l	T	A	2: 166,777,591 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,133,177 (GRCm39)	H841R	probably damaging	Het
Cyp2c39	T	C	19: 39,549,405 (GRCm39)	Y308H	possibly damaging	Het
Cyp4f18	G	A	8: 72,742,487 (GRCm39)	P498S	possibly damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dnah3	T	A	7: 119,566,775 (GRCm39)	I97F		Het
Entpd3	A	G	9: 120,389,652 (GRCm39)	R313G	possibly damaging	Het
Erg28	G	A	12: 85,866,253 (GRCm39)	T75I	probably damaging	Het
Fam171a1	A	G	2: 3,226,421 (GRCm39)	H518R	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Galntl6	T	C	8: 58,290,222 (GRCm39)	E457G	probably damaging	Het
Glt8d1	A	T	14: 30,732,296 (GRCm39)	H192L	probably damaging	Het
Gm15446	T	A	5: 110,091,165 (GRCm39)	C472*	probably null	Het
Gm28363	A	T	1: 117,625,228 (GRCm39)	M1L	unknown	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gstp3	T	A	19: 4,108,746 (GRCm39)	K45*	probably null	Het
Hsd17b13	A	G	5: 104,113,681 (GRCm39)	F258L	possibly damaging	Het
Htt	T	C	5: 35,021,993 (GRCm39)	S1646P	probably benign	Het
Ipo11	T	C	13: 107,028,976 (GRCm39)	M326V	probably benign	Het
Itpr3	T	A	17: 27,336,153 (GRCm39)	I2293N	probably damaging	Het
Klk1b8	A	G	7: 43,448,750 (GRCm39)		probably null	Het
Kntc1	T	A	5: 123,922,290 (GRCm39)	L963H	probably damaging	Het
Lyst	T	A	13: 13,810,637 (GRCm39)	L769*	probably null	Het
Map3k13	A	G	16: 21,740,346 (GRCm39)	S558G	probably benign	Het
Mbd1	G	A	18: 74,407,128 (GRCm39)		probably null	Het
Mep1a	T	C	17: 43,790,126 (GRCm39)	N408D	probably benign	Het
Mtrf1	A	G	14: 79,644,378 (GRCm39)	T229A	probably benign	Het
Muc4	C	T	16: 32,754,935 (GRCm38)	S1603L	unknown	Het
Myo1b	A	C	1: 51,818,739 (GRCm39)	I512S	possibly damaging	Het
N4bp2	A	G	5: 65,964,446 (GRCm39)	I832V	probably benign	Het
Nadsyn1	T	A	7: 143,352,233 (GRCm39)	K618*	probably null	Het
Ncstn	T	C	1: 171,903,023 (GRCm39)	D87G	probably benign	Het
Neurl4	T	C	11: 69,794,012 (GRCm39)	V156A	probably benign	Het
Nfasc	C	A	1: 132,527,751 (GRCm39)	G885V	not run	Het
Nox4	A	T	7: 86,963,335 (GRCm39)	Y180F	possibly damaging	Het
Nuggc	A	G	14: 65,860,700 (GRCm39)	T449A	probably benign	Het
Or6c209	A	G	10: 129,483,281 (GRCm39)	I95V	probably benign	Het
Pik3r4	T	C	9: 105,540,316 (GRCm39)	S735P	probably damaging	Het
Ppp1r9b	T	C	11: 94,892,735 (GRCm39)	I645T	probably damaging	Het
Rras2	G	A	7: 113,716,783 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,962,822 (GRCm39)	M25T	probably damaging	Het
Serpinb3c	T	A	1: 107,200,883 (GRCm39)	Y178F	possibly damaging	Het
Sh3bp2	A	G	5: 34,716,429 (GRCm39)	H280R	not run	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Skor1	T	C	9: 63,053,783 (GRCm39)	E62G	probably damaging	Het
Slc22a22	T	A	15: 57,126,751 (GRCm39)	N106I	possibly damaging	Het
Slc44a4	T	A	17: 35,142,828 (GRCm39)		probably null	Het
Sppl2c	A	G	11: 104,079,342 (GRCm39)		probably null	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Stx5a	T	A	19: 8,732,482 (GRCm39)	W384R	unknown	Het
Topaz1	A	G	9: 122,609,765 (GRCm39)	Y1111C	possibly damaging	Het
Ttbk1	T	A	17: 46,757,164 (GRCm39)	M1157L	probably benign	Het
Ttn	T	C	2: 76,578,489 (GRCm39)	T24135A	probably damaging	Het
Ttn	T	C	2: 76,795,481 (GRCm39)	E632G	unknown	Het
Ttn	T	C	2: 76,547,559 (GRCm39)	T32204A	probably benign	Het
Vmn2r109	T	C	17: 20,760,782 (GRCm39)	I858M	probably benign	Het
Vmn2r71	A	T	7: 85,272,869 (GRCm39)	Q561L	possibly damaging	Het
Yme1l1	A	G	2: 23,071,077 (GRCm39)	D271G	probably damaging	Het
Zfp629	A	G	7: 127,211,167 (GRCm39)	F214S	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
R6192:Zfp709	UTSW	8	72,644,552 (GRCm39)	small deletion	probably benign
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
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'- TGAGTTGAACCAATGTGAGGAAATC -3'
(R):5'- AGTGAAAGCTTTCCCACACTGTG -3'

Sequencing Primer
(F):5'- ACCAATGTGAGGAAATCTTCAAAAG -3'
(R):5'- ACAGGCATTACATCTGTACGG -3'

Posted On

2019-12-20