Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00848:Zfp704'

14993

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp704

Ensembl Gene

ENSMUSG00000040209

Gene Name

zinc finger protein 704

Synonyms

Gig1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00848

Quality Score

Status

Chromosome

Chromosomal Location

9427020-9610085 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9565239 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 21 (S21T)

Ref Sequence

ENSEMBL: ENSMUSP00000141598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041124] [ENSMUST00000193947]

Predicted Effect

probably benign
Transcript: ENSMUST00000041124
AA Change: S171T

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000041242
Gene: ENSMUSG00000040209
AA Change: S171T

Domain	Start	End	E-Value	Type
low complexity region	12	94	N/A	INTRINSIC
low complexity region	98	129	N/A	INTRINSIC
low complexity region	267	290	N/A	INTRINSIC
ZnF_C2H2	346	371	3.58e-2	SMART
c-clamp	536	566	1.55e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193947
AA Change: S21T

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141598
Gene: ENSMUSG00000040209
AA Change: S21T

Domain	Start	End	E-Value	Type
low complexity region	117	140	N/A	INTRINSIC
ZnF_C2H2	196	221	1.6e-4	SMART
c-clamp	475	505	7.4e-18	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a reporter (null) allele are viable and fertile with no obvious developmental defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,246,724	E869G	probably damaging	Het
A930011G23Rik	A	G	5: 99,222,378	F508L	probably damaging	Het
Adgra3	C	T	5: 50,001,949	G320R	probably damaging	Het
Arhgef40	G	A	14: 51,987,427	V10M	probably damaging	Het
Birc6	C	T	17: 74,696,393	Q4739*	probably null	Het
Cdh20	C	T	1: 104,934,256	H54Y	probably benign	Het
Cep112	A	G	11: 108,472,060	D202G	probably damaging	Het
Cfhr2	T	A	1: 139,831,232	T27S	probably benign	Het
Copa	T	A	1: 172,110,688	C523S	possibly damaging	Het
Copz1	T	A	15: 103,298,749		probably benign	Het
Crybg1	A	C	10: 43,967,818		probably null	Het
Cyp3a11	A	T	5: 145,862,465	I304N	probably damaging	Het
Eif2d	C	T	1: 131,164,436	Q315*	probably null	Het
Fgfr4	A	G	13: 55,159,170	E224G	probably damaging	Het
Fndc3b	A	T	3: 27,451,509	L870Q	probably damaging	Het
Glt8d2	C	T	10: 82,662,165		probably null	Het
Gpat3	A	T	5: 100,893,144	M357L	probably benign	Het
Hrnr	A	T	3: 93,322,897	K147N	unknown	Het
Kbtbd3	T	A	9: 4,331,184	S519R	probably damaging	Het
Kcnv1	A	G	15: 45,113,228	I221T	probably benign	Het
Khdrbs2	C	T	1: 32,472,752	A266V	probably benign	Het
Lmtk2	A	G	5: 144,176,398	E1312G	probably benign	Het
Mb21d1	G	A	9: 78,435,488	P344L	probably damaging	Het
Mos	T	C	4: 3,871,459	N119S	probably damaging	Het
Mtpap	C	T	18: 4,380,717	H132Y	probably benign	Het
Myo18b	G	A	5: 112,871,485	T642I	probably damaging	Het
Myo5c	A	G	9: 75,289,181	E1303G	probably benign	Het
Napepld	A	T	5: 21,683,193	M86K	probably benign	Het
Nvl	T	A	1: 181,105,125	D709V	probably damaging	Het
Pak1ip1	A	T	13: 41,012,623	E341D	probably benign	Het
Pgghg	G	A	7: 140,942,404	G32D	probably damaging	Het
Phlpp1	G	A	1: 106,376,255	R1096H	probably damaging	Het
Phlpp1	C	T	1: 106,339,448	T697M	probably damaging	Het
Piwil4	T	G	9: 14,727,411	T273P	probably damaging	Het
Pkd2l1	A	T	19: 44,192,279		probably benign	Het
Polr3b	A	G	10: 84,680,377	D623G	probably damaging	Het
Pop1	A	G	15: 34,508,729	T317A	probably benign	Het
Prune2	A	T	19: 17,119,118	K662I	probably damaging	Het
Ptger4	T	C	15: 5,235,108	I356V	probably benign	Het
Rhbdd1	T	C	1: 82,340,444	L16P	possibly damaging	Het
Rps11	C	T	7: 45,123,501	R22Q	probably benign	Het
Sfxn2	A	T	19: 46,590,157	I204F	probably damaging	Het
Slc26a9	C	T	1: 131,757,528	S365F	probably damaging	Het
Slc47a2	C	T	11: 61,302,233	V565M	probably benign	Het
Spns1	T	C	7: 126,371,242		probably null	Het
Stk3	T	A	15: 35,114,622	E48V	possibly damaging	Het
Svs3b	T	C	2: 164,256,101	E100G	probably damaging	Het
Tjp1	T	C	7: 65,303,194	Q1464R	probably benign	Het
Tspan10	T	C	11: 120,444,270	S69P	probably benign	Het
Usp32	T	C	11: 85,051,181		probably benign	Het
Vps45	G	T	3: 96,056,973		probably benign	Het
Zfp106	A	T	2: 120,512,727	N1790K	probably damaging	Het

Other mutations in Zfp704

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03288:Zfp704	APN	3	9439891	splice site	probably benign
R0265:Zfp704	UTSW	3	9565157	missense	probably damaging	1.00
R0524:Zfp704	UTSW	3	9609364	missense	unknown
R1466:Zfp704	UTSW	3	9447348	missense	possibly damaging	0.94
R1466:Zfp704	UTSW	3	9447348	missense	possibly damaging	0.94
R1647:Zfp704	UTSW	3	9471039	missense	probably damaging	1.00
R1648:Zfp704	UTSW	3	9471039	missense	probably damaging	1.00
R1865:Zfp704	UTSW	3	9474491	splice site	probably benign
R1912:Zfp704	UTSW	3	9609358	missense	unknown
R2109:Zfp704	UTSW	3	9474525	missense	probably damaging	1.00
R2566:Zfp704	UTSW	3	9609493	missense	unknown
R3551:Zfp704	UTSW	3	9474525	missense	probably damaging	1.00
R4495:Zfp704	UTSW	3	9471077	missense	probably benign	0.01
R6165:Zfp704	UTSW	3	9443886	missense	probably benign	0.00
R6682:Zfp704	UTSW	3	9565193	missense	probably benign	0.11
R7057:Zfp704	UTSW	3	9470917	missense	probably damaging	1.00
R7348:Zfp704	UTSW	3	9474598	missense	probably damaging	1.00
R7758:Zfp704	UTSW	3	9444222	missense	possibly damaging	0.90
R7858:Zfp704	UTSW	3	9444157	critical splice donor site	probably null
R8104:Zfp704	UTSW	3	9565241	missense	probably benign	0.03
R8373:Zfp704	UTSW	3	9609442	missense	unknown
Z1176:Zfp704	UTSW	3	9471044	missense	probably damaging	1.00

Posted On

2012-12-06