Mutagenetix > Incidental Mutation

Incidental Mutation 'R3551:Zfp704'

268323

Institutional Source

Beutler Lab

Gene Symbol

Zfp704

Ensembl Gene

ENSMUSG00000040209

Gene Name

zinc finger protein 704

Synonyms

Gig1

MMRRC Submission

040668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3551 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9492080-9675145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9539585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 255 (V255A)

Ref Sequence

ENSEMBL: ENSMUSP00000041242 (fasta)

Gene Model

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

AlphaFold

Q9ERQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000041124
AA Change: V255A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041242
Gene: ENSMUSG00000040209
AA Change: V255A

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

probably damaging
Transcript: ENSMUST00000193947
AA Change: V105A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141598
Gene: ENSMUSG00000040209
AA Change: V105A

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,152,450 (GRCm39)	Y866N	probably damaging	Het
Adam24	G	C	8: 41,132,632 (GRCm39)	W33C	probably benign	Het
Adgrl2	A	T	3: 148,564,599 (GRCm39)	V327E	probably damaging	Het
Aqp7	T	A	4: 41,045,329 (GRCm39)	N17I	probably benign	Het
Bicra	T	A	7: 15,713,658 (GRCm39)	Q848L	probably benign	Het
C4b	T	C	17: 34,960,846 (GRCm39)	E240G	possibly damaging	Het
Ccni	T	C	5: 93,335,620 (GRCm39)	S173G	probably benign	Het
Clca3a2	T	A	3: 144,508,842 (GRCm39)	N50I	probably damaging	Het
Dcaf7	A	G	11: 105,945,622 (GRCm39)	T324A	probably benign	Het
Dnah12	G	A	14: 26,492,929 (GRCm39)	R1230H	probably benign	Het
Dsg4	G	A	18: 20,584,813 (GRCm39)	V176M	probably damaging	Het
Ect2l	A	G	10: 18,039,141 (GRCm39)	I339T	probably damaging	Het
Edc4	A	T	8: 106,612,126 (GRCm39)	I138F	probably damaging	Het
Ercc6l2	T	A	13: 63,992,409 (GRCm39)	V401E	probably damaging	Het
Gm3269	T	A	14: 16,033,003 (GRCm39)	V260D	possibly damaging	Het
Gm4076	C	T	13: 85,275,269 (GRCm39)		noncoding transcript	Het
Gm4922	A	T	10: 18,660,244 (GRCm39)	N159K	probably benign	Het
Gm5134	G	T	10: 75,836,281 (GRCm39)	A421S	probably benign	Het
Hrc	G	C	7: 44,985,757 (GRCm39)	E303Q	possibly damaging	Het
Ipo4	A	G	14: 55,870,560 (GRCm39)	V288A	probably benign	Het
Kng2	A	G	16: 22,830,745 (GRCm39)		probably null	Het
Lrfn1	T	C	7: 28,159,479 (GRCm39)	L466P	possibly damaging	Het
Magi1	T	A	6: 93,676,610 (GRCm39)	K916N	probably damaging	Het
Mms19	T	C	19: 41,938,237 (GRCm39)	T720A	probably benign	Het
Muc5b	A	G	7: 141,415,072 (GRCm39)	T2673A	possibly damaging	Het
Myo15a	C	T	11: 60,400,489 (GRCm39)	A1767V	possibly damaging	Het
Npas2	A	T	1: 39,326,643 (GRCm39)	M43L	probably benign	Het
Nup43	A	G	10: 7,550,778 (GRCm39)	D216G	possibly damaging	Het
Or1e19	T	C	11: 73,316,678 (GRCm39)	I44V	probably benign	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pcdhga6	G	T	18: 37,841,270 (GRCm39)	R330L	probably benign	Het
Pear1	A	G	3: 87,665,439 (GRCm39)	F145L	probably benign	Het
Pgap1	A	G	1: 54,569,302 (GRCm39)	S355P	possibly damaging	Het
Prr14l	A	T	5: 32,985,963 (GRCm39)		probably null	Het
Ptpn12	T	C	5: 21,194,047 (GRCm39)	K742E	possibly damaging	Het
Ryr1	T	A	7: 28,756,422 (GRCm39)	Q3464L	probably damaging	Het
Sema4c	G	C	1: 36,592,804 (GRCm39)	T138S	probably benign	Het
Slc4a2	C	T	5: 24,635,099 (GRCm39)	T168M	probably benign	Het
Slco1a7	T	C	6: 141,654,322 (GRCm39)	K647E	probably benign	Het
Spice1	G	T	16: 44,178,232 (GRCm39)	S85I	probably damaging	Het
Thrb	T	A	14: 17,963,214 (GRCm38)	I59N	probably damaging	Het
Trav7-1	A	G	14: 52,892,756 (GRCm39)	D103G	probably damaging	Het
Ubap2l	G	T	3: 89,922,758 (GRCm39)	T766N	unknown	Het
Zfp692	C	T	11: 58,200,254 (GRCm39)	T170I	possibly damaging	Het
Zfp759	T	C	13: 67,287,031 (GRCm39)	V194A	probably benign	Het

Other mutations in Zfp704

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Zfp704	APN	3	9,630,299 (GRCm39)	missense	possibly damaging	0.61
IGL03288:Zfp704	APN	3	9,504,951 (GRCm39)	splice site	probably benign
R0265:Zfp704	UTSW	3	9,630,217 (GRCm39)	missense	probably damaging	1.00
R0524:Zfp704	UTSW	3	9,674,424 (GRCm39)	missense	unknown
R1466:Zfp704	UTSW	3	9,512,408 (GRCm39)	missense	possibly damaging	0.94
R1466:Zfp704	UTSW	3	9,512,408 (GRCm39)	missense	possibly damaging	0.94
R1647:Zfp704	UTSW	3	9,536,099 (GRCm39)	missense	probably damaging	1.00
R1648:Zfp704	UTSW	3	9,536,099 (GRCm39)	missense	probably damaging	1.00
R1865:Zfp704	UTSW	3	9,539,551 (GRCm39)	splice site	probably benign
R1912:Zfp704	UTSW	3	9,674,418 (GRCm39)	missense	unknown
R2109:Zfp704	UTSW	3	9,539,585 (GRCm39)	missense	probably damaging	1.00
R2566:Zfp704	UTSW	3	9,674,553 (GRCm39)	missense	unknown
R4495:Zfp704	UTSW	3	9,536,137 (GRCm39)	missense	probably benign	0.01
R6165:Zfp704	UTSW	3	9,508,946 (GRCm39)	missense	probably benign	0.00
R6682:Zfp704	UTSW	3	9,630,253 (GRCm39)	missense	probably benign	0.11
R7057:Zfp704	UTSW	3	9,535,977 (GRCm39)	missense	probably damaging	1.00
R7348:Zfp704	UTSW	3	9,539,658 (GRCm39)	missense	probably damaging	1.00
R7758:Zfp704	UTSW	3	9,509,282 (GRCm39)	missense	possibly damaging	0.90
R7858:Zfp704	UTSW	3	9,509,217 (GRCm39)	critical splice donor site	probably null
R8104:Zfp704	UTSW	3	9,630,301 (GRCm39)	missense	probably benign	0.03
R8373:Zfp704	UTSW	3	9,674,502 (GRCm39)	missense	unknown
R8877:Zfp704	UTSW	3	9,674,416 (GRCm39)	missense	unknown
R9136:Zfp704	UTSW	3	9,509,324 (GRCm39)	missense	probably benign	0.03
Z1176:Zfp704	UTSW	3	9,536,104 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGCTGTGTAGGTGAGCAC -3'
(R):5'- TCTTATCCGTAAAACAACTGGCAG -3'

Sequencing Primer
(F):5'- TGTAGGTGAGCACATCAGTATCC -3'
(R):5'- CAACTGGCAGAACATTGGCTTTTC -3'

Posted On

2015-02-19