Mutagenetix > Incidental Mutation

Incidental Mutation 'R7972:Zc3h12a'

650649

Institutional Source

Beutler Lab

Gene Symbol

Zc3h12a

Ensembl Gene

ENSMUSG00000042677

Gene Name

zinc finger CCCH type containing 12A

Synonyms

Mcpip1

MMRRC Submission

046015-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.762) question?

Stock #

R7972 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125012216-125021633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125013728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 379 (K379E)

Ref Sequence

ENSEMBL: ENSMUSP00000037172 (fasta)

Gene Model

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

AlphaFold

Q5D1E7

Predicted Effect

probably benign
Transcript: ENSMUST00000036188
AA Change: K379E

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037172
Gene: ENSMUSG00000042677
AA Change: K379E

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

Meta Mutation Damage Score

0.0665

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (48/49)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,320,287 (GRCm39)	V384E	probably damaging	Het
Acacb	C	T	5: 114,364,918 (GRCm39)	R1533*	probably null	Het
Alox12	T	A	11: 70,133,513 (GRCm39)	M604L	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Brdt	A	T	5: 107,496,415 (GRCm39)	I176F	possibly damaging	Het
Cdk5	G	T	5: 24,624,656 (GRCm39)	T245K	probably benign	Het
Chd9	A	T	8: 91,732,395 (GRCm39)	R1304S	unknown	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cyp2j11	T	A	4: 96,185,871 (GRCm39)	E438V	probably damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dnah10	T	C	5: 124,803,949 (GRCm39)	V92A	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fam184a	A	T	10: 53,514,355 (GRCm39)	L1022Q	probably damaging	Het
Foxd4	T	C	19: 24,877,594 (GRCm39)	H202R	probably damaging	Het
Fry	T	C	5: 150,233,861 (GRCm39)	V16A	probably benign	Het
Gstcd	A	T	3: 132,777,894 (GRCm39)	F306I	probably benign	Het
H2bc13	A	G	13: 21,899,977 (GRCm39)	S113P	possibly damaging	Het
Hivep3	T	C	4: 119,954,711 (GRCm39)	V1009A	possibly damaging	Het
Hoxd12	G	T	2: 74,506,269 (GRCm39)	R227L	probably damaging	Het
Ifi208	T	A	1: 173,506,556 (GRCm39)	M113K	possibly damaging	Het
Ift70a1	A	T	2: 75,810,802 (GRCm39)	M427K	probably damaging	Het
Kcnh4	T	G	11: 100,643,278 (GRCm39)	T330P	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lin28a	G	A	4: 133,733,574 (GRCm39)	P158S	probably damaging	Het
Muc16	C	A	9: 18,557,060 (GRCm39)	E3078*	probably null	Het
Naaladl1	A	G	19: 6,156,274 (GRCm39)	N120S	probably damaging	Het
Nol10	G	A	12: 17,402,648 (GRCm39)	R40H	probably benign	Het
Ntng1	G	A	3: 110,042,802 (GRCm39)	S8L	probably benign	Het
Or4a71	T	G	2: 89,357,948 (GRCm39)	I269L	probably benign	Het
Or4c107	T	A	2: 88,789,177 (GRCm39)	Y122*	probably null	Het
Pacsin1	T	A	17: 27,927,613 (GRCm39)	F319I	unknown	Het
Pla2g4d	G	A	2: 120,109,413 (GRCm39)	T212I	probably benign	Het
Ppp4r1	T	A	17: 66,140,093 (GRCm39)	C664S	possibly damaging	Het
Prodh2	T	C	7: 30,210,580 (GRCm39)	I377T	probably damaging	Het
Prss57	A	T	10: 79,619,230 (GRCm39)	L243H	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Ros1	G	A	10: 52,030,926 (GRCm39)	R581*	probably null	Het
Rps6kc1	C	T	1: 190,531,321 (GRCm39)	G894S	probably benign	Het
Sirt7	A	G	11: 120,510,016 (GRCm39)	S183P	unknown	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Styxl2	T	A	1: 165,926,708 (GRCm39)	E968V	probably damaging	Het
Tbc1d8	A	G	1: 39,431,250 (GRCm39)	F374S	probably damaging	Het
Tdrd1	T	A	19: 56,837,134 (GRCm39)	D489E	probably damaging	Het
Tiprl	T	A	1: 165,064,543 (GRCm39)		probably benign	Het
Tpt1	T	C	14: 76,085,539 (GRCm39)	*173Q	probably null	Het
Trim17	A	G	11: 58,859,394 (GRCm39)	I203V	probably benign	Het
Trim43b	T	A	9: 88,973,361 (GRCm39)	H124L	probably damaging	Het
Triobp	T	C	15: 78,852,186 (GRCm39)	I780T	probably damaging	Het
Tyrobp	G	A	7: 30,114,063 (GRCm39)	G101R		Het
Vmn1r181	A	T	7: 23,683,871 (GRCm39)	H112L	probably benign	Het
Wdr19	A	G	5: 65,381,193 (GRCm39)	N406D	probably damaging	Het
Zcwpw1	T	C	5: 137,799,323 (GRCm39)	I230T	probably benign	Het
Zfhx4	A	G	3: 5,477,533 (GRCm39)	T3383A	probably benign	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
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'- CGCCCCATAATTCTGACATCTG -3'
(R):5'- ACGTATGGAATCAAGTGCCG -3'

Sequencing Primer
(F):5'- GGAACCAATGCCTGAATCAAGGC -3'
(R):5'- GGAATCAAGTGCCGATTTTTCCAC -3'

Posted On

2020-09-15