Mutagenetix > Incidental Mutation

Incidental Mutation 'R9641:Zc3h12a'

725968

Institutional Source

Beutler Lab

Gene Symbol

Zc3h12a

Ensembl Gene

ENSMUSG00000042677

Gene Name

zinc finger CCCH type containing 12A

Synonyms

Mcpip1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.806) question?

Stock #

R9641 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125012216-125021633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125014852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 211 (T211A)

Ref Sequence

ENSEMBL: ENSMUSP00000037172 (fasta)

Gene Model

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

AlphaFold

Q5D1E7

Predicted Effect

probably damaging
Transcript: ENSMUST00000036188
AA Change: T211A

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

SMART Domains

Protein: ENSMUSP00000037172
Gene: ENSMUSG00000042677
AA Change: T211A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,430,498 (GRCm39)	F52L	possibly damaging	Het
Abca16	T	C	7: 120,126,308 (GRCm39)	C1156R	possibly damaging	Het
Abcg3	A	C	5: 105,084,483 (GRCm39)	S571A	probably benign	Het
Abi3	C	A	11: 95,724,503 (GRCm39)	L259F	unknown	Het
Adam19	A	T	11: 46,027,149 (GRCm39)	D594V	probably damaging	Het
Adam34	C	T	8: 44,104,076 (GRCm39)	S523N	probably damaging	Het
Adam6b	G	T	12: 113,454,176 (GRCm39)	C331F	probably benign	Het
Adamts14	A	T	10: 61,106,829 (GRCm39)	V97E	probably damaging	Het
Adipor1	T	C	1: 134,355,878 (GRCm39)	Y226H	probably damaging	Het
Alox12e	T	C	11: 70,212,261 (GRCm39)	Y139C	probably damaging	Het
Ankrd53	A	G	6: 83,740,692 (GRCm39)	D160G	possibly damaging	Het
Ap1m1	A	T	8: 73,003,606 (GRCm39)	Y94F	probably damaging	Het
Arhgef28	A	C	13: 98,078,983 (GRCm39)	D1314E	probably benign	Het
Bicc1	A	G	10: 70,863,772 (GRCm39)	I90T	probably benign	Het
Celf6	A	G	9: 59,485,833 (GRCm39)	D58G	probably damaging	Het
Cfap74	T	C	4: 155,549,054 (GRCm39)	S38P	unknown	Het
Cps1	A	G	1: 67,234,342 (GRCm39)	I910V	probably benign	Het
Cracdl	C	T	1: 37,663,592 (GRCm39)	A769T	possibly damaging	Het
Crybg2	C	T	4: 133,816,620 (GRCm39)	Q1353*	probably null	Het
Cyp4f39	T	C	17: 32,705,982 (GRCm39)	Y358H	probably damaging	Het
Dcp1a	T	A	14: 30,241,132 (GRCm39)	I314N	probably damaging	Het
Dgki	A	C	6: 37,126,489 (GRCm39)	W164G	probably damaging	Het
Dnah8	A	G	17: 30,932,029 (GRCm39)	I1466V	probably benign	Het
Efcab6	T	A	15: 83,763,676 (GRCm39)	R1219W	probably damaging	Het
Faap24	A	T	7: 35,094,494 (GRCm39)	F102Y	probably damaging	Het
Fam186a	T	C	15: 99,838,244 (GRCm39)	T2667A	probably benign	Het
Frem1	C	T	4: 82,877,653 (GRCm39)	G1308D	probably damaging	Het
Hectd1	T	C	12: 51,816,047 (GRCm39)	T1347A	probably benign	Het
Hipk3	A	T	2: 104,267,376 (GRCm39)	H620Q	probably benign	Het
Hpd	A	G	5: 123,310,052 (GRCm39)	S391P	probably benign	Het
Ino80	A	G	2: 119,275,965 (GRCm39)	V437A	probably benign	Het
Itgax	G	T	7: 127,741,152 (GRCm39)	G785C	probably damaging	Het
Kcnk18	C	T	19: 59,223,266 (GRCm39)	T137I	probably damaging	Het
Kif16b	A	G	2: 142,542,589 (GRCm39)	F236L	probably benign	Het
Lamb1	T	C	12: 31,337,457 (GRCm39)	M396T	probably damaging	Het
Lrfn5	C	A	12: 61,886,540 (GRCm39)	N109K	probably damaging	Het
Lrrc15	T	A	16: 30,093,006 (GRCm39)	N111I	probably damaging	Het
Lrrk2	A	T	15: 91,671,251 (GRCm39)	I2011F	possibly damaging	Het
Lsr	A	G	7: 30,658,285 (GRCm39)	I336T	probably damaging	Het
Mettl21e	T	A	1: 44,250,351 (GRCm39)	R18S	probably benign	Het
Mrpl22	T	C	11: 58,068,047 (GRCm39)	L115P	probably damaging	Het
N4bp2	T	A	5: 65,948,035 (GRCm39)	S222T	probably benign	Het
Nat2	A	G	8: 67,954,522 (GRCm39)	T211A	probably benign	Het
Nbeal1	T	A	1: 60,350,247 (GRCm39)	I2432N	probably damaging	Het
Neb	A	G	2: 52,112,783 (GRCm39)	I1158T		Het
Nrip3	C	T	7: 109,362,793 (GRCm39)	E164K	probably damaging	Het
Obox6	G	A	7: 15,568,742 (GRCm39)	Q45*	probably null	Het
Ola1	T	C	2: 73,033,784 (GRCm39)	N44D	probably benign	Het
Or1x6	C	T	11: 50,939,207 (GRCm39)	T91M	probably benign	Het
Or2y1c	T	C	11: 49,361,509 (GRCm39)	F177S	probably damaging	Het
Or5b111	A	T	19: 13,291,100 (GRCm39)	M183K	probably damaging	Het
Or5d39	A	T	2: 87,980,255 (GRCm39)	I36N	possibly damaging	Het
Or5p81	A	T	7: 108,267,516 (GRCm39)	N298Y	probably damaging	Het
Or6ae1	A	G	7: 139,742,771 (GRCm39)	F31L	probably benign	Het
Or8b51	T	A	9: 38,568,915 (GRCm39)	M258L	probably benign	Het
Pde10a	A	G	17: 9,197,816 (GRCm39)	K753R		Het
Phldb1	T	C	9: 44,627,839 (GRCm39)	D202G	probably damaging	Het
Pik3cb	T	C	9: 98,955,789 (GRCm39)	N376S	probably benign	Het
Plekhh2	A	G	17: 84,874,130 (GRCm39)	N472D	probably damaging	Het
Ppp4r4	T	A	12: 103,567,811 (GRCm39)	F708Y	probably benign	Het
Rnf157	A	G	11: 116,303,576 (GRCm39)	V12A	probably benign	Het
Saa3	T	C	7: 46,364,494 (GRCm39)	I11V	probably benign	Het
Sall2	T	C	14: 52,550,882 (GRCm39)	E771G	probably damaging	Het
Sar1b	C	T	11: 51,670,573 (GRCm39)	T39I	probably damaging	Het
Scn10a	A	T	9: 119,445,869 (GRCm39)	L1428Q	possibly damaging	Het
Sema3f	A	G	9: 107,565,454 (GRCm39)	I213T	unknown	Het
Serpina3m	C	T	12: 104,360,085 (GRCm39)	Q386*	probably null	Het
Sh3gl3	G	A	7: 81,909,370 (GRCm39)	G26R	probably damaging	Het
Shq1	T	C	6: 100,550,633 (GRCm39)	E435G	probably damaging	Het
Sidt2	G	T	9: 45,864,495 (GRCm39)	A78E	probably benign	Het
Sin3b	A	G	8: 73,477,187 (GRCm39)	Y818C	probably damaging	Het
Smarca2	C	T	19: 26,656,498 (GRCm39)	L825F	possibly damaging	Het
Srgn	T	A	10: 62,330,884 (GRCm39)	M74L	probably benign	Het
Tbc1d22b	A	C	17: 29,813,747 (GRCm39)	D360A	possibly damaging	Het
Tbx4	A	G	11: 85,803,128 (GRCm39)	R335G	probably damaging	Het
Tmem144	T	C	3: 79,734,200 (GRCm39)	N168D	probably benign	Het
Trip11	G	A	12: 101,859,957 (GRCm39)	Q307*	probably null	Het
Ttyh2	T	C	11: 114,598,516 (GRCm39)	Y296H	probably damaging	Het
Vmn1r236	G	T	17: 21,507,043 (GRCm39)	V54F	probably benign	Het
Xrra1	A	C	7: 99,561,088 (GRCm39)	H443P	probably benign	Het
Zfp386	T	G	12: 116,023,330 (GRCm39)	D349E	probably benign	Het
Zkscan16	T	A	4: 58,956,577 (GRCm39)	H286Q	probably benign	Het
Znrf2	C	T	6: 54,861,788 (GRCm39)	P233L	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
R2404:Zc3h12a	UTSW	4	125,013,316 (GRCm39)	missense	probably damaging	1.00
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
X0026:Zc3h12a	UTSW	4	125,020,664 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAGCAGTAACGTACTTGTC -3'
(R):5'- GATGCACTTGGTTTTCACACAG -3'

Sequencing Primer
(F):5'- CGTACTTGTCATTGACGAAGGAGTAC -3'
(R):5'- GGTTTTCACACAGCTGGTTTCCG -3'

Posted On

2022-09-12