Mutagenetix > Incidental Mutation

Incidental Mutation 'R2058:Zfp804a'

228336

Institutional Source

Beutler Lab

Gene Symbol

Zfp804a

Ensembl Gene

ENSMUSG00000070866

Gene Name

zinc finger protein 804A

Synonyms

C630007C17Rik

MMRRC Submission

040063-MU

Accession Numbers

Essential gene?

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

Stock #

R2058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81883566-82090223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82087710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 513 (D513G)

Ref Sequence

ENSEMBL: ENSMUSP00000041941 (fasta)

Gene Model

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

AlphaFold

A2AKY4

Predicted Effect

probably benign
Transcript: ENSMUST00000047527
AA Change: D513G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041941
Gene: ENSMUSG00000070866
AA Change: D513G

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

99% (94/95)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 25,162,082 (GRCm39)		probably benign	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Arhgef4	A	G	1: 34,761,458 (GRCm39)	K238R	unknown	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atp2a1	G	A	7: 126,046,844 (GRCm39)	A847V	possibly damaging	Het
Baz1b	T	A	5: 135,246,079 (GRCm39)	N509K	probably benign	Het
BC051076	A	T	5: 88,111,844 (GRCm39)		noncoding transcript	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Canx	T	C	11: 50,195,252 (GRCm39)	N272S	probably damaging	Het
Cd302	T	A	2: 60,082,767 (GRCm39)	I186F	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cep112	T	A	11: 108,410,087 (GRCm39)		probably null	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Col4a1	T	A	8: 11,260,792 (GRCm39)	D1330V	probably damaging	Het
Ctsa	T	G	2: 164,676,822 (GRCm39)	M136R	probably null	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dmwd	T	A	7: 18,814,652 (GRCm39)	L434Q	probably damaging	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Gcc2	T	A	10: 58,121,779 (GRCm39)	S1102T	probably benign	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gna14	G	C	19: 16,585,505 (GRCm39)		probably benign	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gulo	A	G	14: 66,228,608 (GRCm39)	V270A	possibly damaging	Het
Hps5	T	A	7: 46,417,475 (GRCm39)	D904V	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Jak3	A	T	8: 72,138,027 (GRCm39)		probably null	Het
Klhl6	T	G	16: 19,801,681 (GRCm39)	T25P	probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Map3k21	A	G	8: 126,665,461 (GRCm39)	K550R	probably benign	Het
Mphosph10	T	A	7: 64,026,499 (GRCm39)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,198,540 (GRCm39)	E204G	probably damaging	Het
Msh5	A	C	17: 35,248,732 (GRCm39)	V738G	probably damaging	Het
Mybph	G	A	1: 134,127,857 (GRCm39)	C473Y	probably damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Notch3	T	C	17: 32,362,618 (GRCm39)	T1336A	probably benign	Het
Nsun4	T	C	4: 115,910,877 (GRCm39)		probably null	Het
Or1e30	A	G	11: 73,678,100 (GRCm39)	N112S	probably benign	Het
Or5m10	A	T	2: 85,717,296 (GRCm39)	T51S	possibly damaging	Het
Osgin1	A	G	8: 120,172,412 (GRCm39)	D402G	possibly damaging	Het
Patl1	A	G	19: 11,909,511 (GRCm39)	E479G	possibly damaging	Het
Pbsn	T	C	X: 76,891,582 (GRCm39)	K72E	probably damaging	Het
Pcdhb13	A	G	18: 37,577,620 (GRCm39)	Q666R	possibly damaging	Het
Pi4k2b	G	A	5: 52,908,022 (GRCm39)	V131I	probably benign	Het
Pkn2	G	A	3: 142,559,232 (GRCm39)	H98Y	possibly damaging	Het
Pms1	A	G	1: 53,314,327 (GRCm39)	Y73H	probably benign	Het
Ppt2	A	T	17: 34,841,818 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Prl6a1	T	C	13: 27,503,081 (GRCm39)	Y231H	probably benign	Het
Ranbp3l	T	A	15: 9,029,641 (GRCm39)	V41D	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Ripk4	A	T	16: 97,545,342 (GRCm39)	L372*	probably null	Het
Rnf126	A	G	10: 79,594,971 (GRCm39)		probably benign	Het
S100pbp	A	G	4: 129,075,893 (GRCm39)	V144A	probably benign	Het
Saal1	T	C	7: 46,348,880 (GRCm39)	Q317R	probably damaging	Het
Sap25	G	A	5: 137,641,034 (GRCm39)	G277R	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Set	A	G	2: 29,959,048 (GRCm39)	K70E	possibly damaging	Het
Setd3	A	G	12: 108,073,600 (GRCm39)	I559T	probably benign	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Skint3	A	T	4: 112,112,980 (GRCm39)	K197*	probably null	Het
Skint5	T	A	4: 113,727,897 (GRCm39)	I402F	possibly damaging	Het
Slc18a1	G	A	8: 69,496,613 (GRCm39)	T350M	probably damaging	Het
Slc19a3	A	T	1: 82,992,512 (GRCm39)	I403K	probably damaging	Het
Slc1a7	C	T	4: 107,861,636 (GRCm39)	T225I	probably benign	Het
Slc38a4	T	C	15: 96,906,606 (GRCm39)	I336V	probably benign	Het
Smarcc1	A	G	9: 109,947,411 (GRCm39)		probably benign	Het
St8sia5	A	T	18: 77,342,459 (GRCm39)	I390F	probably damaging	Het
Strc	A	T	2: 121,209,368 (GRCm39)	W290R	probably damaging	Het
Svep1	T	C	4: 58,084,554 (GRCm39)	D1858G	possibly damaging	Het
Sympk	G	A	7: 18,777,454 (GRCm39)	R568Q	probably damaging	Het
Tex44	A	C	1: 86,354,728 (GRCm39)	K212N	probably damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thrap3	C	T	4: 126,073,967 (GRCm39)	V260I	probably damaging	Het
Thsd7a	A	T	6: 12,318,105 (GRCm39)		probably benign	Het
Trim12c	A	G	7: 103,997,398 (GRCm39)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ubap2l	A	T	3: 89,938,683 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,227,740 (GRCm39)		probably null	Het
Usp17la	A	C	7: 104,510,378 (GRCm39)	T328P	probably damaging	Het
Vmn2r113	T	A	17: 23,177,223 (GRCm39)	L669*	probably null	Het
Vps13b	T	A	15: 35,841,593 (GRCm39)	V2541E	probably damaging	Het
Wnt3	T	C	11: 103,703,111 (GRCm39)	I198T	probably damaging	Het
Zfp316	T	C	5: 143,249,161 (GRCm39)	E158G	unknown	Het
Zfp362	T	G	4: 128,680,780 (GRCm39)	I182L	possibly damaging	Het
Zfp879	C	T	11: 50,723,428 (GRCm39)	E543K	probably benign	Het
Zfp97	T	A	17: 17,365,018 (GRCm39)	N172K	possibly damaging	Het
Zmym6	A	T	4: 126,982,208 (GRCm39)	K82*	probably null	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
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'- AGCTGTAATCCACTCTGTTTTGAC -3'
(R):5'- TTTATGGAACCAGTGCTCACG -3'

Sequencing Primer
(F):5'- GTAATCCACTCTGTTTTGACTTCAAG -3'
(R):5'- CCAGTGCTCACGGGTTTC -3'

Posted On

2014-09-17