Mutagenetix > Incidental Mutation

Incidental Mutation 'R1365:Zfp804a'

155992

Institutional Source

Beutler Lab

Gene Symbol

Zfp804a

Ensembl Gene

ENSMUSG00000070866

Gene Name

zinc finger protein 804A

Synonyms

C630007C17Rik

MMRRC Submission

039430-MU

Accession Numbers

Essential gene?

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

Stock #

R1365 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81883566-82090223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82087590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 473 (L473P)

Ref Sequence

ENSEMBL: ENSMUSP00000041941 (fasta)

Gene Model

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

AlphaFold

A2AKY4

Predicted Effect

probably benign
Transcript: ENSMUST00000047527
AA Change: L473P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000041941
Gene: ENSMUSG00000070866
AA Change: L473P

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

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
Arhgef28	G	A	13: 98,211,632 (GRCm39)	T117M	probably damaging	Het
Asb15	T	C	6: 24,567,269 (GRCm39)	I530T	possibly damaging	Het
Brca1	T	C	11: 101,392,822 (GRCm39)	N1673S	probably benign	Het
Cd48	A	T	1: 171,527,129 (GRCm39)	Q185L	probably damaging	Het
Cog2	A	T	8: 125,267,713 (GRCm39)	K343I	probably damaging	Het
Dars2	G	A	1: 160,872,564 (GRCm39)	Q546*	probably null	Het
Dst	A	G	1: 34,227,275 (GRCm39)	K1623E	probably benign	Het
Epn1	G	A	7: 5,096,369 (GRCm39)	R221Q	probably benign	Het
Gtf2b	T	C	3: 142,477,227 (GRCm39)	I33T	probably damaging	Het
Hsf4	G	T	8: 105,997,726 (GRCm39)	R156L	probably damaging	Het
Itch	A	G	2: 155,054,951 (GRCm39)	N752D	probably benign	Het
Kif28	G	A	1: 179,567,552 (GRCm39)	Q73*	probably null	Het
Mamdc4	T	C	2: 25,456,036 (GRCm39)	Y790C	probably damaging	Het
Med1	T	C	11: 98,046,821 (GRCm39)		probably benign	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Nf1	A	G	11: 79,438,711 (GRCm39)		probably null	Het
Oxct2b	G	A	4: 123,011,162 (GRCm39)	V361I	probably benign	Het
Pid1	T	C	1: 84,015,862 (GRCm39)	M168V	probably damaging	Het
Plk1	A	G	7: 121,767,852 (GRCm39)	D419G	probably damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Sem1	T	C	6: 6,560,501 (GRCm39)	D26G	possibly damaging	Het
Sin3a	C	T	9: 57,032,487 (GRCm39)	R1141*	probably null	Het
Slf1	C	T	13: 77,274,490 (GRCm39)	A68T	probably damaging	Het
Trmo	A	G	4: 46,380,278 (GRCm39)	S364P	probably damaging	Het
Uchl3	A	G	14: 101,891,528 (GRCm39)	E10G	probably damaging	Het
Usp14	C	T	18: 10,000,490 (GRCm39)		probably null	Het
Vmn1r203	T	A	13: 22,708,756 (GRCm39)	M179K	probably benign	Het
Vps13a	A	G	19: 16,596,810 (GRCm39)	Y3103H	probably damaging	Het
Zfp979	A	T	4: 147,697,681 (GRCm39)	Y343N	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
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
R6325:Zfp804a	UTSW	2	82,087,382 (GRCm39)	missense	possibly damaging	0.80
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'- TGGACCTGTGAGTAAAAGCAACCC -3'
(R):5'- CCATTAGACAAAACGTGGACAGGCG -3'

Sequencing Primer
(F):5'- ACTGTGCCTAATGACCGC -3'
(R):5'- GAAAGTGTAGTAACTTGAGGGTAATC -3'

Posted On

2014-02-11