Mutagenetix > Incidental Mutation

Incidental Mutation 'R4170:Zfp804a'

320729

Institutional Source

Beutler Lab

Gene Symbol

Zfp804a

Ensembl Gene

ENSMUSG00000070866

Gene Name

zinc finger protein 804A

Synonyms

C630007C17Rik

MMRRC Submission

040863-MU

Accession Numbers

Essential gene?

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

Stock #

R4170 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81883566-82090223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82083832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 95 (F95I)

Ref Sequence

ENSEMBL: ENSMUSP00000041941 (fasta)

Gene Model

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

AlphaFold

A2AKY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000047527
AA Change: F95I

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

SMART Domains

Protein: ENSMUSP00000041941
Gene: ENSMUSG00000070866
AA Change: F95I

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: 99.3%
3x: 98.6%
10x: 97.5%
20x: 96.0%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700047A11Rik	T	A	8: 26,585,815 (GRCm39)	T63S	probably benign	Het
Acap3	T	A	4: 155,984,458 (GRCm39)	S189T	possibly damaging	Het
Acsbg2	G	A	17: 57,160,846 (GRCm39)	T266I	probably benign	Het
Cacna1s	A	G	1: 136,035,933 (GRCm39)	D1144G	probably damaging	Het
Diaph3	T	C	14: 87,223,143 (GRCm39)	D365G	probably damaging	Het
Dock7	T	A	4: 98,854,638 (GRCm39)	D1542V	probably damaging	Het
Efr3a	T	A	15: 65,717,831 (GRCm39)	V337D	probably damaging	Het
Elk3	A	G	10: 93,101,197 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,288,754 (GRCm39)	L867P	probably damaging	Het
Gdf6	A	G	4: 9,859,650 (GRCm39)	D244G	probably benign	Het
Get1	G	A	16: 95,954,176 (GRCm39)	A92T	probably benign	Het
Gzmn	T	C	14: 56,404,261 (GRCm39)	D192G	possibly damaging	Het
Krt81	T	A	15: 101,359,193 (GRCm39)	M242L	probably benign	Het
Lysmd3	C	T	13: 81,817,529 (GRCm39)	Q169*	probably null	Het
Man2c1	A	G	9: 57,045,310 (GRCm39)	D473G	probably benign	Het
Mmp23	C	T	4: 155,735,767 (GRCm39)	R268Q	probably damaging	Het
Or1j17	C	A	2: 36,578,734 (GRCm39)	T240N	probably damaging	Het
Or5p58	T	A	7: 107,694,280 (GRCm39)	I166L	probably benign	Het
Prmt3	G	T	7: 49,476,524 (GRCm39)	A378S	probably benign	Het
Ptf1a	C	T	2: 19,451,819 (GRCm39)	L273F	possibly damaging	Het
Ptpru	A	T	4: 131,503,659 (GRCm39)	Y1124N	probably damaging	Het
Rtkn	T	G	6: 83,119,376 (GRCm39)	M1R	probably null	Het
Rttn	T	A	18: 88,993,847 (GRCm39)	F175I	probably damaging	Het
Slc5a7	T	C	17: 54,583,886 (GRCm39)	D468G	probably benign	Het
Slc9a9	A	G	9: 95,110,952 (GRCm39)	Y590C	probably damaging	Het
Smarcd1	T	C	15: 99,605,812 (GRCm39)	L320P	probably damaging	Het
Sox2	A	T	3: 34,704,703 (GRCm39)	M47L	probably damaging	Het
Sptan1	T	C	2: 29,920,037 (GRCm39)	M2258T	possibly damaging	Het
Tnrc6b	T	A	15: 80,800,988 (GRCm39)	D1431E	probably benign	Het
Trav8n-2	A	T	14: 53,583,875 (GRCm39)	T111S	possibly damaging	Het
Tut4	A	G	4: 108,405,256 (GRCm39)	Y1293C	probably damaging	Het
Zbtb46	T	C	2: 181,066,148 (GRCm39)	M1V	probably null	Het
Zfp7	T	C	15: 76,775,818 (GRCm39)	V620A	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
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'- CCTAAGGCACAGATACAATTTTCACAG -3'
(R):5'- ACTGACATAAATAGGTTTGTGCCC -3'

Sequencing Primer
(F):5'- ACAGTAATATAATTTCATGGTTGGGC -3'
(R):5'- ATAGGTTTGTGCCCTTTATTTCTAAC -3'

Posted On

2015-06-12