Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4431001:Zfp804a'

555214

Institutional Source

Beutler Lab

Gene Symbol

Zfp804a

Ensembl Gene

ENSMUSG00000070866

Gene Name

zinc finger protein 804A

Synonyms

C630007C17Rik

Accession Numbers

Essential gene?

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

Stock #

PIT4431001 (G1)

Quality Score

140.008

Status

Not validated

Chromosome

Chromosomal Location

81883566-82090223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82089536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1122 (F1122L)

Ref Sequence

ENSEMBL: ENSMUSP00000041941 (fasta)

Gene Model

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

AlphaFold

A2AKY4

Predicted Effect

probably benign
Transcript: ENSMUST00000047527
AA Change: F1122L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000041941
Gene: ENSMUSG00000070866
AA Change: F1122L

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: 93.2%
3x: 90.7%
10x: 84.7%
20x: 71.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	A	G	5: 146,439,322 (GRCm39)	I29V	probably benign	Het
5730455P16Rik	C	A	11: 80,254,750 (GRCm39)	C357F	probably damaging	Het
Actr1a	A	T	19: 46,370,731 (GRCm39)		probably null	Het
Adcy1	C	G	11: 7,014,089 (GRCm39)	Q164E	possibly damaging	Het
Arhgap35	A	T	7: 16,295,536 (GRCm39)	S1176R	possibly damaging	Het
Atad2b	A	G	12: 5,081,795 (GRCm39)	T1235A	possibly damaging	Het
Atosb	C	A	4: 43,036,024 (GRCm39)	G236C	probably damaging	Het
Atp8a2	T	C	14: 59,892,075 (GRCm39)	D1091G	probably benign	Het
Bmp6	T	C	13: 38,669,906 (GRCm39)	S397P	probably benign	Het
C3	A	T	17: 57,513,242 (GRCm39)	N1468K	probably benign	Het
Ccnjl	CGCG	CGCGGCG	11: 43,470,534 (GRCm39)		probably benign	Het
Ccr1	T	C	9: 123,764,231 (GRCm39)	I100V	probably benign	Het
Cep162	T	A	9: 87,126,398 (GRCm39)	R171S	probably benign	Het
Chd8	T	C	14: 52,455,706 (GRCm39)	H994R	probably damaging	Het
Cntn3	T	A	6: 102,441,527 (GRCm39)	K6N	probably benign	Het
Cope	A	G	8: 70,765,417 (GRCm39)	E289G	probably damaging	Het
Cpne8	T	G	15: 90,436,178 (GRCm39)	E279A	probably damaging	Het
Cyp11a1	A	T	9: 57,923,555 (GRCm39)		probably null	Het
Dcp2	A	G	18: 44,545,638 (GRCm39)	K333R	probably benign	Het
Dpp6	G	T	5: 27,836,496 (GRCm39)	V329F	probably benign	Het
Drc1	T	A	5: 30,504,417 (GRCm39)	D186E	probably damaging	Het
Dsc2	G	A	18: 20,179,334 (GRCm39)	Q245*	probably null	Het
Eef1e1	T	C	13: 38,842,938 (GRCm39)	E11G	probably damaging	Het
Emilin2	G	A	17: 71,562,990 (GRCm39)	P915S	probably benign	Het
Fpgt	A	G	3: 154,792,422 (GRCm39)	M535T	possibly damaging	Het
Fxyd3	G	A	7: 30,770,780 (GRCm39)	L37F	probably damaging	Het
Gal3st2c	T	A	1: 93,935,834 (GRCm39)	I62N	probably damaging	Het
Gdpd3	T	C	7: 126,365,647 (GRCm39)	I2T	probably benign	Het
Gm9611	T	C	14: 42,115,888 (GRCm39)	M169V		Het
Ints3	G	A	3: 90,303,767 (GRCm39)	T720I	probably damaging	Het
Itpr2	T	G	6: 146,256,218 (GRCm39)	M992L	probably benign	Het
L3mbtl2	T	A	15: 81,560,508 (GRCm39)	H256Q	probably benign	Het
Lama2	T	C	10: 26,977,426 (GRCm39)	T1918A	probably damaging	Het
Lpcat2b	G	A	5: 107,581,997 (GRCm39)	G442D	probably damaging	Het
Lrp1b	C	T	2: 40,894,767 (GRCm39)	V2268M		Het
Macc1	T	C	12: 119,410,246 (GRCm39)	L338P	probably benign	Het
Mtmr2	T	C	9: 13,704,475 (GRCm39)	F201L	probably benign	Het
Mtr	C	T	13: 12,227,329 (GRCm39)	V772M	probably damaging	Het
Mtus2	A	G	5: 148,013,515 (GRCm39)	T103A	probably benign	Het
Myo5c	A	G	9: 75,159,853 (GRCm39)	I294V	possibly damaging	Het
Ncam1	A	T	9: 49,709,993 (GRCm39)	F13I	probably benign	Het
Or4a75	T	C	2: 89,448,201 (GRCm39)	I112V	probably benign	Het
Paqr6	A	T	3: 88,273,084 (GRCm39)	I52F	possibly damaging	Het
Pde2a	T	G	7: 101,151,104 (GRCm39)	V271G	probably damaging	Het
Pde7b	T	C	10: 20,276,291 (GRCm39)	H405R	possibly damaging	Het
Plxnb1	A	G	9: 108,929,786 (GRCm39)	Y214C	probably damaging	Het
Pmp22	T	C	11: 63,042,067 (GRCm39)	F101L	probably benign	Het
Pold1	A	G	7: 44,188,318 (GRCm39)	L520P	probably damaging	Het
Pramel1	A	G	4: 143,124,960 (GRCm39)	T295A	possibly damaging	Het
Psg20	A	T	7: 18,408,475 (GRCm39)	I415N	probably damaging	Het
Ptcd2	T	A	13: 99,476,527 (GRCm39)	R71*	probably null	Het
Ptgs1	A	T	2: 36,130,692 (GRCm39)	N197I	probably damaging	Het
Rbfox3	T	C	11: 118,386,047 (GRCm39)	D333G	probably damaging	Het
Rfx7	T	A	9: 72,525,253 (GRCm39)	H814Q	probably benign	Het
Rptn	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	3: 93,304,704 (GRCm39)		probably benign	Het
Serpina3i	A	T	12: 104,231,432 (GRCm39)	H23L	probably benign	Het
Sipa1l1	T	A	12: 82,443,290 (GRCm39)	V860E	probably benign	Het
Slc12a1	T	A	2: 125,032,124 (GRCm39)	Y592N	possibly damaging	Het
Slco2a1	T	C	9: 102,927,467 (GRCm39)	F120S	probably damaging	Het
Smyd4	T	C	11: 75,294,339 (GRCm39)	F740S	probably damaging	Het
Sppl2a	T	C	2: 126,765,396 (GRCm39)	Y242C	probably damaging	Het
Sqle	A	G	15: 59,195,509 (GRCm39)	K288R	probably benign	Het
Tbc1d17	A	G	7: 44,494,498 (GRCm39)	S246P	probably benign	Het
Tenm3	G	A	8: 48,688,642 (GRCm39)	T2315M	probably damaging	Het
Tgfb1i1	C	T	7: 127,848,353 (GRCm39)	R191C	probably damaging	Het
Thumpd3	T	A	6: 113,036,939 (GRCm39)	N279K	probably benign	Het
Tmed5	T	A	5: 108,277,887 (GRCm39)	H95L	possibly damaging	Het
Tmem161a	T	C	8: 70,634,674 (GRCm39)	L443P	probably damaging	Het
Ttc38	C	A	15: 85,720,328 (GRCm39)	Q97K	probably benign	Het
Unc13c	C	A	9: 73,656,829 (GRCm39)	C1124F	probably damaging	Het
Vmn2r102	A	G	17: 19,896,958 (GRCm39)	T102A	possibly damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Xkr5	A	T	8: 18,984,361 (GRCm39)	S394T	possibly damaging	Het
Zan	C	T	5: 137,390,326 (GRCm39)	C4747Y	unknown	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
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
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'- TTCAGCCGAACATGCTAACC -3'
(R):5'- CAGTTGGATGTGGTGAAAGC -3'

Sequencing Primer
(F):5'- AACAAGGTCAAATTTACCTTTCCTCC -3'
(R):5'- TTGGATGTGGTGAAAGCAATGAG -3'

Posted On

2019-06-07