Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03187:Zfp709'

412500

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp709

Ensembl Gene

ENSMUSG00000056019

Gene Name

zinc finger protein 709

Synonyms

GIOT-4

Accession Numbers

Essential gene?

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

Stock #

IGL03187

Quality Score

Status

Chromosome

Chromosomal Location

72635912-72646409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72643126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 184 (I184S)

Ref Sequence

ENSEMBL: ENSMUSP00000034259 (fasta)

Gene Model

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

AlphaFold

Q8VC29

Predicted Effect

probably benign
Transcript: ENSMUST00000034259
AA Change: I184S

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034259
Gene: ENSMUSG00000056019
AA Change: I184S

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: I185S

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140285
Gene: ENSMUSG00000056019
AA Change: I185S

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

Coding Region Coverage

Validation Efficiency

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbx	G	A	16: 50,094,926 (GRCm39)	T130I	probably damaging	Het
Cdkl2	A	G	5: 92,165,239 (GRCm39)		probably null	Het
Clrn1	A	G	3: 58,753,854 (GRCm39)	V169A	probably damaging	Het
Erbb3	A	G	10: 128,408,463 (GRCm39)		probably benign	Het
Gucy2g	A	C	19: 55,219,484 (GRCm39)	I379M	possibly damaging	Het
Hps5	A	T	7: 46,422,631 (GRCm39)	L533Q	probably damaging	Het
Kansl1l	T	A	1: 66,765,062 (GRCm39)	K749N	probably damaging	Het
Krt6b	G	T	15: 101,588,392 (GRCm39)	F89L	probably benign	Het
Myh1	T	C	11: 67,097,351 (GRCm39)	F439L	possibly damaging	Het
Neb	G	A	2: 52,059,100 (GRCm39)	H213Y	probably damaging	Het
Nhej1	A	G	1: 75,007,420 (GRCm39)	S111P	possibly damaging	Het
Or4k1	G	T	14: 50,377,257 (GRCm39)	P280T	probably damaging	Het
Pcdh15	G	A	10: 74,191,706 (GRCm39)	V601M	probably damaging	Het
Ripor3	A	G	2: 167,827,588 (GRCm39)	V621A	possibly damaging	Het
Smarca2	A	G	19: 26,650,224 (GRCm39)	N732S	probably damaging	Het
Stx18	G	A	5: 38,284,327 (GRCm39)	E170K	possibly damaging	Het
Syde1	A	T	10: 78,424,943 (GRCm39)	I356N	possibly damaging	Het
Tex2	C	T	11: 106,458,903 (GRCm39)		probably benign	Het
Vmn2r50	T	G	7: 9,771,368 (GRCm39)	T778P	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
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
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

Posted On

2016-08-02