Mutagenetix > Incidental Mutation

Incidental Mutation 'R4163:Zc3h12c'

321614

Institutional Source

Beutler Lab

Gene Symbol

Zc3h12c

Ensembl Gene

ENSMUSG00000035164

Gene Name

zinc finger CCCH type containing 12C

Synonyms

C230027N18Rik

MMRRC Submission

041006-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4163 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52022644-52079872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52026999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 788 (Y788N)

Ref Sequence

ENSEMBL: ENSMUSP00000150821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165519] [ENSMUST00000213645]

AlphaFold

Q5DTV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000165519
AA Change: Y807N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127603
Gene: ENSMUSG00000035164
AA Change: Y807N

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	53	65	N/A	INTRINSIC
low complexity region	106	121	N/A	INTRINSIC
Pfam:RNase_Zc3h12a	264	420	1.6e-67	PFAM
low complexity region	644	659	N/A	INTRINSIC
low complexity region	746	758	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184156

Predicted Effect

probably damaging
Transcript: ENSMUST00000213645
AA Change: Y788N

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

Meta Mutation Damage Score

0.2817

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	G	A	8: 49,948,531 (GRCm39)		noncoding transcript	Het
Abca8a	C	T	11: 109,941,808 (GRCm39)	D1154N	probably benign	Het
Adgrf4	A	G	17: 42,978,477 (GRCm39)	F289L	probably benign	Het
Alkbh2	A	G	5: 114,265,613 (GRCm39)	L63S	probably damaging	Het
Atp13a4	A	T	16: 29,360,068 (GRCm39)	N19K	possibly damaging	Het
Birc6	T	A	17: 74,933,975 (GRCm39)	Y2544N	probably damaging	Het
Bnip5	T	C	17: 29,118,503 (GRCm39)	Y643C	probably benign	Het
Bpifa3	A	G	2: 153,977,516 (GRCm39)	N118S	probably damaging	Het
Chst10	T	A	1: 38,910,904 (GRCm39)	M87L	probably benign	Het
Cnot9	C	T	1: 74,568,006 (GRCm39)	P298L	probably damaging	Het
Cops5	T	C	1: 10,100,912 (GRCm39)	Y228C	probably damaging	Het
Dcaf8	T	G	1: 172,020,137 (GRCm39)	L492R	probably damaging	Het
Dis3l2	A	G	1: 86,748,959 (GRCm39)	S128G	probably benign	Het
Dock1	A	G	7: 134,346,051 (GRCm39)	R198G	possibly damaging	Het
Elovl7	T	A	13: 108,403,904 (GRCm39)	M82K	possibly damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Fcgr2b	T	C	1: 170,791,016 (GRCm39)	D259G	possibly damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Frk	C	T	10: 34,467,868 (GRCm39)	P294L	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm128	C	A	3: 95,147,802 (GRCm39)	R164L	probably benign	Het
Gm2223	C	T	X: 32,943,247 (GRCm39)		noncoding transcript	Het
Hexd	C	A	11: 121,111,975 (GRCm39)	A423E	probably benign	Het
Itgax	G	T	7: 127,743,872 (GRCm39)	V878F	probably benign	Het
Kank2	A	T	9: 21,706,864 (GRCm39)	D51E	probably damaging	Het
Kcna4	G	C	2: 107,126,151 (GRCm39)	W295S	probably damaging	Het
Mfsd12	A	G	10: 81,196,931 (GRCm39)		probably null	Het
Mis12	A	G	11: 70,916,482 (GRCm39)	T172A	probably benign	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Myo18a	G	T	11: 77,720,534 (GRCm39)	R1103L	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Ntrk2	T	C	13: 59,008,054 (GRCm39)	V272A	probably damaging	Het
Or2ag17	A	T	7: 106,389,486 (GRCm39)	C241S	probably damaging	Het
Or5p64	A	T	7: 107,855,039 (GRCm39)	I102N	probably benign	Het
Or7e165	A	T	9: 19,695,086 (GRCm39)	Y219F	possibly damaging	Het
Pcdh20	C	T	14: 88,705,615 (GRCm39)	D562N	probably damaging	Het
Prep	T	C	10: 44,943,436 (GRCm39)	F4L	probably benign	Het
Prep	G	T	10: 44,943,458 (GRCm39)	R11L	possibly damaging	Het
Ptgs1	C	T	2: 36,141,346 (GRCm39)	R598C	possibly damaging	Het
Rasgrp1	T	C	2: 117,113,135 (GRCm39)	D759G	probably benign	Het
Setd5	T	C	6: 113,096,545 (GRCm39)	S584P	probably benign	Het
Shank3	A	G	15: 89,433,797 (GRCm39)	D1514G	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc44a5	A	T	3: 153,967,010 (GRCm39)	R565S	possibly damaging	Het
Slc7a5	A	G	8: 122,615,139 (GRCm39)	L236S	probably benign	Het
Slfn3	A	T	11: 83,103,596 (GRCm39)	I156F	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,607,080 (GRCm39)	V203A	probably benign	Het
Vrk2	T	A	11: 26,497,915 (GRCm39)	I90L	probably benign	Het
Zfp831	A	G	2: 174,485,822 (GRCm39)	T166A	possibly damaging	Het

Other mutations in Zc3h12c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Zc3h12c	APN	9	52,027,965 (GRCm39)	missense	probably damaging	1.00
IGL01288:Zc3h12c	APN	9	52,028,951 (GRCm39)	splice site	probably benign
IGL01993:Zc3h12c	APN	9	52,027,611 (GRCm39)	missense	probably damaging	1.00
R0035:Zc3h12c	UTSW	9	52,055,047 (GRCm39)	missense	probably benign	0.04
R0035:Zc3h12c	UTSW	9	52,055,047 (GRCm39)	missense	probably benign	0.04
R0131:Zc3h12c	UTSW	9	52,037,923 (GRCm39)	missense	possibly damaging	0.87
R0240:Zc3h12c	UTSW	9	52,055,383 (GRCm39)	missense	possibly damaging	0.77
R0240:Zc3h12c	UTSW	9	52,055,383 (GRCm39)	missense	possibly damaging	0.77
R1762:Zc3h12c	UTSW	9	52,027,081 (GRCm39)	missense	probably benign	0.17
R2101:Zc3h12c	UTSW	9	52,027,721 (GRCm39)	missense	probably benign	0.01
R3052:Zc3h12c	UTSW	9	52,055,356 (GRCm39)	missense	possibly damaging	0.94
R3689:Zc3h12c	UTSW	9	52,027,256 (GRCm39)	missense	probably benign	0.00
R4230:Zc3h12c	UTSW	9	52,055,728 (GRCm39)	critical splice acceptor site	probably null
R4803:Zc3h12c	UTSW	9	52,027,853 (GRCm39)	missense	probably damaging	1.00
R5008:Zc3h12c	UTSW	9	52,028,000 (GRCm39)	missense	probably benign	0.00
R5153:Zc3h12c	UTSW	9	52,037,947 (GRCm39)	missense	probably damaging	1.00
R5682:Zc3h12c	UTSW	9	52,037,876 (GRCm39)	missense	probably damaging	1.00
R5843:Zc3h12c	UTSW	9	52,027,982 (GRCm39)	missense	probably benign	0.01
R6613:Zc3h12c	UTSW	9	52,027,412 (GRCm39)	missense	possibly damaging	0.65
R7097:Zc3h12c	UTSW	9	52,027,226 (GRCm39)	missense	possibly damaging	0.77
R7460:Zc3h12c	UTSW	9	52,055,402 (GRCm39)	missense	probably benign	0.13
R7867:Zc3h12c	UTSW	9	52,055,248 (GRCm39)	missense	probably damaging	0.96
R8711:Zc3h12c	UTSW	9	52,037,858 (GRCm39)	splice site	probably benign
R9170:Zc3h12c	UTSW	9	52,027,419 (GRCm39)	missense	probably benign	0.00
R9345:Zc3h12c	UTSW	9	52,028,010 (GRCm39)	missense	probably benign	0.02
R9748:Zc3h12c	UTSW	9	52,055,231 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATTCCTTTTCATGACGAGCC -3'
(R):5'- ACCAAGTTCAGCACATTCGAAG -3'

Sequencing Primer
(F):5'- TTTTCATGACGAGCCTCACAAGG -3'
(R):5'- GTTCAGCACATTCGAAGGCACC -3'

Posted On

2015-06-12