Mutagenetix > Incidental Mutation

Incidental Mutation 'R6325:Zfp804a'

510226

Institutional Source

Beutler Lab

Gene Symbol

Zfp804a

Ensembl Gene

ENSMUSG00000070866

Gene Name

zinc finger protein 804A

Synonyms

C630007C17Rik

MMRRC Submission

044479-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R6325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81883566-82090223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82087382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 404 (I404L)

Ref Sequence

ENSEMBL: ENSMUSP00000041941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047527]

AlphaFold

A2AKY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047527
AA Change: I404L

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041941
Gene: ENSMUSG00000070866
AA Change: I404L

Domain	Start	End	E-Value	Type
ZnF_C2H2	57	81	7.29e0	SMART
low complexity region	588	595	N/A	INTRINSIC
low complexity region	801	808	N/A	INTRINSIC
low complexity region	1012	1029	N/A	INTRINSIC
low complexity region	1061	1077	N/A	INTRINSIC
low complexity region	1168	1191	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127187

Meta Mutation Damage Score

0.0958

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (30/30)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 127,964,944 (GRCm39)	I596T	probably benign	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Birc7	G	A	2: 180,571,243 (GRCm39)	D102N	probably benign	Het
Cct8	A	C	16: 87,292,615 (GRCm39)		probably null	Het
Cntn5	T	C	9: 10,144,328 (GRCm39)		probably null	Het
Cyp11a1	A	G	9: 57,932,851 (GRCm39)	N396D	probably benign	Het
Dip2b	T	C	15: 100,052,163 (GRCm39)	S255P	probably benign	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Fancm	T	A	12: 65,171,826 (GRCm39)	M1822K	probably damaging	Het
Far2	T	C	6: 148,058,995 (GRCm39)	V227A	probably benign	Het
Fbrsl1	A	G	5: 110,525,273 (GRCm39)	F100L	probably damaging	Het
Gpd2	T	C	2: 57,194,408 (GRCm39)	S104P	probably damaging	Het
Grp	T	C	18: 66,006,824 (GRCm39)		probably null	Het
Hamp	A	C	7: 30,643,328 (GRCm39)	H27Q	probably benign	Het
Hecw1	T	A	13: 14,491,031 (GRCm39)	S241C	probably damaging	Het
Itsn2	T	A	12: 4,756,351 (GRCm39)	I1349N	probably damaging	Het
Nr4a2	A	G	2: 57,002,430 (GRCm39)	Y8H	probably damaging	Het
Or2ak7	T	A	11: 58,575,354 (GRCm39)	Y218*	probably null	Het
Or2w1	A	T	13: 21,317,245 (GRCm39)	Q100L	probably damaging	Het
Pla2g2e	T	C	4: 138,607,736 (GRCm39)	Y39H	probably damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Prss1l	T	C	6: 41,373,590 (GRCm39)	V151A	probably benign	Het
Ptpn20	A	T	14: 33,352,962 (GRCm39)	T234S	possibly damaging	Het
Smarca2	T	A	19: 26,655,763 (GRCm39)	V810E	probably damaging	Het
Taar2	A	T	10: 23,816,615 (GRCm39)	M52L	probably benign	Het
Tex47	A	T	5: 7,354,935 (GRCm39)	R39*	probably null	Het
Tnxb	T	A	17: 34,911,398 (GRCm39)	V1567D	probably damaging	Het
Ttll6	T	C	11: 96,026,331 (GRCm39)	Y79H	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfp462	C	T	4: 55,080,680 (GRCm39)	T1344I	probably benign	Het

Other mutations in Zfp804a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00466:Zfp804a	APN	2	81,884,219 (GRCm39)	missense	probably benign	0.30
IGL02011:Zfp804a	APN	2	82,087,035 (GRCm39)	missense	probably damaging	1.00
IGL02218:Zfp804a	APN	2	82,089,546 (GRCm39)	missense	probably damaging	1.00
IGL02645:Zfp804a	APN	2	81,884,220 (GRCm39)	missense	possibly damaging	0.94
PIT4431001:Zfp804a	UTSW	2	82,089,536 (GRCm39)	missense	probably benign	0.04
R0027:Zfp804a	UTSW	2	82,087,544 (GRCm39)	missense	probably damaging	1.00
R0167:Zfp804a	UTSW	2	82,086,860 (GRCm39)	missense	probably damaging	1.00
R0437:Zfp804a	UTSW	2	81,884,135 (GRCm39)	start codon destroyed	probably null	0.08
R0521:Zfp804a	UTSW	2	82,089,761 (GRCm39)	nonsense	probably null
R0546:Zfp804a	UTSW	2	82,089,264 (GRCm39)	missense	possibly damaging	0.91
R0609:Zfp804a	UTSW	2	82,087,932 (GRCm39)	missense	probably damaging	1.00
R0694:Zfp804a	UTSW	2	81,884,148 (GRCm39)	missense	probably damaging	1.00
R0837:Zfp804a	UTSW	2	82,089,506 (GRCm39)	missense	probably damaging	1.00
R0947:Zfp804a	UTSW	2	82,089,062 (GRCm39)	missense	possibly damaging	0.58
R1103:Zfp804a	UTSW	2	82,087,844 (GRCm39)	missense	probably damaging	0.99
R1168:Zfp804a	UTSW	2	82,087,041 (GRCm39)	missense	probably benign	0.43
R1365:Zfp804a	UTSW	2	82,087,590 (GRCm39)	missense	probably benign	0.00
R1377:Zfp804a	UTSW	2	82,088,841 (GRCm39)	missense	probably benign	0.39
R1501:Zfp804a	UTSW	2	82,066,143 (GRCm39)	missense	probably damaging	1.00
R1526:Zfp804a	UTSW	2	82,088,532 (GRCm39)	missense	probably benign
R1585:Zfp804a	UTSW	2	81,884,095 (GRCm39)	start gained	probably benign
R1674:Zfp804a	UTSW	2	82,089,168 (GRCm39)	missense	probably benign	0.35
R2058:Zfp804a	UTSW	2	82,087,710 (GRCm39)	missense	probably benign	0.00
R2146:Zfp804a	UTSW	2	82,089,008 (GRCm39)	missense	probably benign	0.02
R2149:Zfp804a	UTSW	2	82,089,008 (GRCm39)	missense	probably benign	0.02
R2171:Zfp804a	UTSW	2	82,087,527 (GRCm39)	missense	possibly damaging	0.77
R2307:Zfp804a	UTSW	2	82,087,201 (GRCm39)	missense	probably benign	0.04
R2398:Zfp804a	UTSW	2	82,089,013 (GRCm39)	missense	possibly damaging	0.95
R2496:Zfp804a	UTSW	2	82,066,188 (GRCm39)	missense	probably damaging	1.00
R2504:Zfp804a	UTSW	2	82,087,863 (GRCm39)	missense	probably benign	0.00
R2919:Zfp804a	UTSW	2	82,066,160 (GRCm39)	missense	probably damaging	1.00
R2943:Zfp804a	UTSW	2	82,066,223 (GRCm39)	missense	probably damaging	1.00
R3116:Zfp804a	UTSW	2	82,089,761 (GRCm39)	missense	probably damaging	1.00
R4170:Zfp804a	UTSW	2	82,083,832 (GRCm39)	missense	probably damaging	1.00
R4393:Zfp804a	UTSW	2	82,087,265 (GRCm39)	missense	probably benign	0.43
R4701:Zfp804a	UTSW	2	82,086,926 (GRCm39)	missense	probably damaging	1.00
R4771:Zfp804a	UTSW	2	82,088,286 (GRCm39)	missense	probably benign	0.01
R4793:Zfp804a	UTSW	2	82,066,186 (GRCm39)	missense	probably damaging	1.00
R5523:Zfp804a	UTSW	2	82,089,339 (GRCm39)	missense	probably damaging	1.00
R5526:Zfp804a	UTSW	2	82,088,934 (GRCm39)	missense	probably benign	0.00
R5961:Zfp804a	UTSW	2	82,088,346 (GRCm39)	missense	probably benign
R6181:Zfp804a	UTSW	2	82,087,486 (GRCm39)	missense	probably damaging	1.00
R6209:Zfp804a	UTSW	2	82,088,462 (GRCm39)	missense	probably damaging	1.00
R7147:Zfp804a	UTSW	2	82,088,531 (GRCm39)	missense	probably benign	0.00
R7229:Zfp804a	UTSW	2	82,088,969 (GRCm39)	missense	probably benign	0.04
R7666:Zfp804a	UTSW	2	82,089,404 (GRCm39)	nonsense	probably null
R7910:Zfp804a	UTSW	2	82,086,917 (GRCm39)	missense	probably damaging	1.00
R8256:Zfp804a	UTSW	2	81,884,193 (GRCm39)	missense	probably damaging	0.99
R8669:Zfp804a	UTSW	2	82,088,106 (GRCm39)	missense	probably damaging	1.00
R8738:Zfp804a	UTSW	2	82,089,450 (GRCm39)	missense	probably damaging	1.00
R8749:Zfp804a	UTSW	2	82,087,919 (GRCm39)	missense	probably benign	0.18
R8751:Zfp804a	UTSW	2	82,066,190 (GRCm39)	missense	probably damaging	0.96
R8828:Zfp804a	UTSW	2	82,089,459 (GRCm39)	missense	possibly damaging	0.74
R8834:Zfp804a	UTSW	2	82,089,441 (GRCm39)	missense	possibly damaging	0.76
R8924:Zfp804a	UTSW	2	82,088,747 (GRCm39)	missense	probably benign	0.03
R8982:Zfp804a	UTSW	2	82,066,172 (GRCm39)	missense	probably damaging	1.00
R9459:Zfp804a	UTSW	2	82,089,753 (GRCm39)	missense	probably damaging	1.00
R9570:Zfp804a	UTSW	2	82,088,844 (GRCm39)	missense	probably benign	0.22
X0064:Zfp804a	UTSW	2	82,066,167 (GRCm39)	missense	probably damaging	1.00
Z1177:Zfp804a	UTSW	2	82,088,907 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TGGACCTGTGAGTAAAAGCAAC -3'
(R):5'- TCCTTCTGTTCAGAGAAAAGGTC -3'

Sequencing Primer
(F):5'- TGTGAGTAAAAGCAACCCAAATATC -3'
(R):5'- CATTTCTGATGGCCACTG -3'

Posted On

2018-04-02