Mutagenetix > Incidental Mutation

Incidental Mutation 'R2404:Zc3h12a'

248854

Institutional Source

Beutler Lab

Gene Symbol

Zc3h12a

Ensembl Gene

ENSMUSG00000042677

Gene Name

zinc finger CCCH type containing 12A

Synonyms

Mcpip1

MMRRC Submission

040370-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.806) question?

Stock #

R2404 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125012216-125021633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125013316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 516 (Y516C)

Ref Sequence

ENSEMBL: ENSMUSP00000037172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036188]

AlphaFold

Q5D1E7

Predicted Effect

probably damaging
Transcript: ENSMUST00000036188
AA Change: Y516C

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

SMART Domains

Protein: ENSMUSP00000037172
Gene: ENSMUSG00000042677
AA Change: Y516C

Domain	Start	End	E-Value	Type
Pfam:RNase_Zc3h12a	134	290	3.2e-66	PFAM
low complexity region	354	368	N/A	INTRINSIC
low complexity region	476	487	N/A	INTRINSIC
low complexity region	494	508	N/A	INTRINSIC
low complexity region	514	544	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131685

Meta Mutation Damage Score

0.0804

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.2%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit splenomegaly, lymphadenopathy, hyperimmunoglobulinemia, increased auto-antibodies, and defective IL6 post-transcriptional regulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,740,923 (GRCm39)	T98A	possibly damaging	Het
Aifm2	A	G	10: 61,563,974 (GRCm39)	I161V	probably benign	Het
Arhgef26	T	C	3: 62,336,336 (GRCm39)	M625T	possibly damaging	Het
Atp9a	T	A	2: 168,517,283 (GRCm39)		probably null	Het
Avpr1a	T	C	10: 122,285,115 (GRCm39)	F136L	possibly damaging	Het
Bcas3	T	C	11: 85,245,715 (GRCm39)		probably benign	Het
Bnc1	A	T	7: 81,618,463 (GRCm39)	H867Q	probably benign	Het
Cdh12	C	T	15: 21,537,720 (GRCm39)	T407I	probably damaging	Het
Chd5	C	T	4: 152,451,791 (GRCm39)	T701M	probably damaging	Het
Dhx57	A	G	17: 80,561,733 (GRCm39)	V927A	probably damaging	Het
Dnah2	A	G	11: 69,328,047 (GRCm39)	F3353L	probably damaging	Het
Ect2	G	A	3: 27,185,999 (GRCm39)	P495S	probably benign	Het
Egfl7	G	A	2: 26,479,162 (GRCm39)	E25K	possibly damaging	Het
Gm5117	T	C	8: 32,227,306 (GRCm39)		noncoding transcript	Het
Hbs1l	A	T	10: 21,171,946 (GRCm39)		probably benign	Het
Insrr	C	T	3: 87,709,974 (GRCm39)	T309I	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif12	A	C	4: 63,088,790 (GRCm39)	L170R	probably damaging	Het
Krt90	A	G	15: 101,463,105 (GRCm39)		probably null	Het
Mcu	A	G	10: 59,303,526 (GRCm39)	S104P	probably damaging	Het
Mical3	G	A	6: 120,936,789 (GRCm39)	P374S	probably benign	Het
Ncam2	A	T	16: 81,287,128 (GRCm39)		probably benign	Het
Or12e9	A	G	2: 87,202,568 (GRCm39)	I231V	probably benign	Het
Or2t47	A	T	11: 58,442,546 (GRCm39)	I173N	probably damaging	Het
Or2w1b	T	C	13: 21,300,012 (GRCm39)	L50P	probably damaging	Het
Or5k17	G	A	16: 58,745,998 (GRCm39)	S312L	probably benign	Het
Otud7a	A	G	7: 63,346,899 (GRCm39)	S158G	probably benign	Het
Phlpp1	C	T	1: 106,100,569 (GRCm39)	T279M	probably benign	Het
Pkhd1l1	T	G	15: 44,414,216 (GRCm39)	W2828G	probably damaging	Het
Pnma8a	A	T	7: 16,694,316 (GRCm39)	N57I	probably damaging	Het
Ppp4r4	A	G	12: 103,547,749 (GRCm39)		probably null	Het
Ptprq	T	C	10: 107,522,460 (GRCm39)	Y531C	probably damaging	Het
Rai1	A	G	11: 60,080,750 (GRCm39)	T1605A	probably benign	Het
Satb2	T	C	1: 56,987,267 (GRCm39)	Y106C	probably damaging	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Slc19a3	T	A	1: 83,000,756 (GRCm39)	H87L	probably benign	Het
Slc4a7	G	T	14: 14,733,733 (GRCm38)	V54L	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Spen	T	C	4: 141,205,216 (GRCm39)	N1137S	unknown	Het
Spice1	T	C	16: 44,186,989 (GRCm39)	I162T	probably benign	Het
Spmip1	G	A	6: 29,473,390 (GRCm39)	R173Q	probably benign	Het
Sqor	A	T	2: 122,649,943 (GRCm39)	T396S	probably benign	Het
Tshz3	A	T	7: 36,469,805 (GRCm39)	Q598L	probably damaging	Het
Ttc13	C	T	8: 125,405,736 (GRCm39)		probably benign	Het
Ubxn2a	T	C	12: 4,933,851 (GRCm39)	T187A	probably benign	Het
Usp28	T	C	9: 48,948,558 (GRCm39)		probably null	Het
Zfp616	A	C	11: 73,975,682 (GRCm39)	K650N	probably damaging	Het

Other mutations in Zc3h12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01928:Zc3h12a	APN	4	125,013,779 (GRCm39)	missense	probably benign	0.00
IGL02419:Zc3h12a	APN	4	125,013,581 (GRCm39)	missense	probably benign
IGL03085:Zc3h12a	APN	4	125,020,813 (GRCm39)	missense	probably benign	0.19
IGL03181:Zc3h12a	APN	4	125,013,097 (GRCm39)	missense	probably damaging	1.00
I1329:Zc3h12a	UTSW	4	125,013,157 (GRCm39)	missense	possibly damaging	0.85
P0022:Zc3h12a	UTSW	4	125,013,202 (GRCm39)	missense	possibly damaging	0.69
R2084:Zc3h12a	UTSW	4	125,013,802 (GRCm39)	missense	probably benign	0.00
R2149:Zc3h12a	UTSW	4	125,020,435 (GRCm39)	missense	possibly damaging	0.77
R3862:Zc3h12a	UTSW	4	125,020,732 (GRCm39)	missense	probably benign
R3891:Zc3h12a	UTSW	4	125,020,678 (GRCm39)	missense	probably damaging	1.00
R4707:Zc3h12a	UTSW	4	125,014,686 (GRCm39)	missense	probably damaging	1.00
R5215:Zc3h12a	UTSW	4	125,020,706 (GRCm39)	missense	probably benign	0.17
R5283:Zc3h12a	UTSW	4	125,020,558 (GRCm39)	missense	probably benign	0.11
R5570:Zc3h12a	UTSW	4	125,014,166 (GRCm39)	missense	probably damaging	1.00
R7972:Zc3h12a	UTSW	4	125,013,728 (GRCm39)	missense	probably benign	0.43
R8311:Zc3h12a	UTSW	4	125,020,788 (GRCm39)	missense	possibly damaging	0.95
R8516:Zc3h12a	UTSW	4	125,013,632 (GRCm39)	missense	probably damaging	0.99
R8872:Zc3h12a	UTSW	4	125,020,412 (GRCm39)	missense	probably damaging	1.00
R8989:Zc3h12a	UTSW	4	125,014,743 (GRCm39)	missense	probably damaging	1.00
R9428:Zc3h12a	UTSW	4	125,020,558 (GRCm39)	missense	probably benign	0.11
R9641:Zc3h12a	UTSW	4	125,014,852 (GRCm39)	missense	probably damaging	1.00
X0026:Zc3h12a	UTSW	4	125,020,664 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGGAAGCGTCTCATTAC -3'
(R):5'- AGCCAGATGTCAGAATTATGGG -3'

Sequencing Primer
(F):5'- GGGAAGCGTCTCATTACAGCTTC -3'
(R):5'- CAGATGTCAGAATTATGGGGCGTG -3'

Posted On

2014-11-11