Mutagenetix > Incidental Mutation

Incidental Mutation 'R8751:Zfp804a'

663822

Institutional Source

Beutler Lab

Gene Symbol

Zfp804a

Ensembl Gene

ENSMUSG00000070866

Gene Name

zinc finger protein 804A

Synonyms

C630007C17Rik

MMRRC Submission

068594-MU

Accession Numbers

Essential gene?

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

Stock #

R8751 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81883566-82090223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82066190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 54 (K54E)

Ref Sequence

ENSEMBL: ENSMUSP00000041941 (fasta)

Gene Model

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

AlphaFold

A2AKY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000047527
AA Change: K54E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041941
Gene: ENSMUSG00000070866
AA Change: K54E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,215,813 (GRCm39)	I278N	probably damaging	Het
Adcy9	A	G	16: 4,129,492 (GRCm39)	W702R	probably damaging	Het
Adgrf5	G	A	17: 43,748,574 (GRCm39)	V468I	possibly damaging	Het
Ahnak	A	C	19: 8,987,509 (GRCm39)	K2931T	probably damaging	Het
Ank3	C	T	10: 69,761,849 (GRCm39)		probably benign	Het
Birc6	G	A	17: 74,955,135 (GRCm39)	V3480I	probably damaging	Het
Bpifa5	A	T	2: 154,007,432 (GRCm39)	I125L	probably benign	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Ccm2l	A	T	2: 152,909,695 (GRCm39)	I16F	probably benign	Het
Cep72	G	A	13: 74,198,303 (GRCm39)	S359F	possibly damaging	Het
Col1a1	A	G	11: 94,838,100 (GRCm39)	N844S	unknown	Het
Col7a1	C	T	9: 108,796,730 (GRCm39)	P1623S	possibly damaging	Het
Crybg1	T	C	10: 43,880,838 (GRCm39)	K117E	probably benign	Het
Csmd3	A	G	15: 47,845,402 (GRCm39)	C54R		Het
Dlg1	A	G	16: 31,600,648 (GRCm39)	T211A	probably benign	Het
Emc1	C	A	4: 139,097,279 (GRCm39)	H724N	possibly damaging	Het
Epg5	A	C	18: 78,008,223 (GRCm39)	N784H	probably benign	Het
Epg5	T	A	18: 78,008,225 (GRCm39)	N784K	probably benign	Het
Epg5	A	T	18: 78,008,224 (GRCm39)	N784I	possibly damaging	Het
Erc2	A	G	14: 27,802,145 (GRCm39)	E771G	possibly damaging	Het
Exo1	T	C	1: 175,719,678 (GRCm39)	V241A	probably benign	Het
Fat4	A	G	3: 38,946,002 (GRCm39)	T1632A	probably benign	Het
Fbxo21	T	A	5: 118,140,127 (GRCm39)	M529K	probably damaging	Het
Fhad1	T	C	4: 141,646,134 (GRCm39)	E276G	probably benign	Het
Frem1	G	A	4: 82,889,015 (GRCm39)	T1069I	probably damaging	Het
Gapvd1	A	C	2: 34,568,078 (GRCm39)	F1429V	probably damaging	Het
Gbp9	T	C	5: 105,229,117 (GRCm39)	E510G	possibly damaging	Het
Gm17087	A	T	17: 8,785,510 (GRCm39)	H64Q	probably damaging	Het
Gm19965	A	T	1: 116,749,867 (GRCm39)	Y516F	unknown	Het
Hdac5	A	T	11: 102,109,280 (GRCm39)	I38N	probably benign	Het
Hectd4	T	A	5: 121,501,838 (GRCm39)	C4190*	probably null	Het
Helb	A	T	10: 119,925,412 (GRCm39)	D988E	probably benign	Het
Herc6	C	T	6: 57,639,359 (GRCm39)	S909L	probably damaging	Het
Ice1	A	T	13: 70,751,010 (GRCm39)	V1692E	probably damaging	Het
Ino80	A	G	2: 119,237,389 (GRCm39)	Y1107H	probably benign	Het
Kif9	A	T	9: 110,330,724 (GRCm39)	Y350F	probably benign	Het
Lct	T	A	1: 128,221,534 (GRCm39)	T1570S	probably benign	Het
Lias	T	A	5: 65,557,193 (GRCm39)	N203K	probably benign	Het
Lrrtm4	A	G	6: 79,999,092 (GRCm39)	N168S	probably damaging	Het
Ltf	A	T	9: 110,860,192 (GRCm39)	K538*	probably null	Het
Lysmd4	A	G	7: 66,875,787 (GRCm39)	D150G	probably benign	Het
Magi2	A	G	5: 20,739,462 (GRCm39)	D572G	probably benign	Het
Meiob	T	C	17: 25,047,008 (GRCm39)		probably null	Het
Ncor2	T	C	5: 125,115,964 (GRCm39)	Y130C		Het
Ntmt2	T	A	1: 163,544,738 (GRCm39)	T82S	probably benign	Het
Ofcc1	A	G	13: 40,409,072 (GRCm39)	S118P	probably benign	Het
Or10g3	A	G	14: 52,610,420 (GRCm39)	F30S	probably benign	Het
Or2t45	A	G	11: 58,669,213 (GRCm39)	T87A	probably benign	Het
Or8b55	T	A	9: 38,727,335 (GRCm39)	C179S	probably damaging	Het
Parp14	A	T	16: 35,677,181 (GRCm39)	M929K	probably benign	Het
Pcdh8	T	C	14: 80,006,229 (GRCm39)	E778G	probably benign	Het
Pgls	T	C	8: 72,047,838 (GRCm39)	V211A	probably benign	Het
Pkd2	T	A	5: 104,637,151 (GRCm39)	M588K	probably damaging	Het
Pms1	T	C	1: 53,231,269 (GRCm39)	N860S	probably benign	Het
Psg19	C	T	7: 18,530,888 (GRCm39)	V89M	probably benign	Het
Reln	T	C	5: 22,147,672 (GRCm39)	H2426R	probably benign	Het
Ripor2	T	A	13: 24,885,050 (GRCm39)	N428K	possibly damaging	Het
Slc12a4	C	T	8: 106,676,285 (GRCm39)		probably null	Het
Slc25a3	T	C	10: 90,952,960 (GRCm39)	I314V	probably benign	Het
Slc29a1	C	A	17: 45,900,688 (GRCm39)	V125F	probably benign	Het
Slc9a5	T	A	8: 106,085,981 (GRCm39)	C583S	probably damaging	Het
Slco2b1	G	A	7: 99,309,259 (GRCm39)	Q691*	probably null	Het
Smg7	T	C	1: 152,719,129 (GRCm39)	D874G	probably damaging	Het
Spef2	T	A	15: 9,729,723 (GRCm39)	K132*	probably null	Het
Tap1	A	G	17: 34,412,133 (GRCm39)	K446R	probably benign	Het
Tcam1	A	T	11: 106,176,443 (GRCm39)	T390S	possibly damaging	Het
Tnik	A	G	3: 28,666,057 (GRCm39)	N687D	probably damaging	Het
Trim42	T	C	9: 97,251,852 (GRCm39)	R16G	possibly damaging	Het
Vcp	A	C	4: 42,984,658 (GRCm39)	L411W	probably damaging	Het
Vma21-ps	C	A	4: 52,496,973 (GRCm39)	G91V	probably damaging	Het
Vmn1r23	T	C	6: 57,903,452 (GRCm39)	T109A	probably benign	Het
Vmn2r67	C	T	7: 84,801,450 (GRCm39)	C162Y	probably benign	Het
Vmn2r-ps117	A	G	17: 19,044,021 (GRCm39)	T366A	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
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
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'- CATGTTTTCAAACTTGTTTTGCTGAT -3'
(R):5'- ACTTGATTCATCATCACAGAATTACA -3'

Sequencing Primer
(F):5'- TCAAGGGAGTGCTCATTG -3'
(R):5'- GGTCTTAACAATTCAGTCCATG -3'

Posted On

2021-03-08