Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00418:Zc3h12c'

6175

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zc3h12c

Ensembl Gene

ENSMUSG00000035164

Gene Name

zinc finger CCCH type containing 12C

Synonyms

C230027N18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00418

Quality Score

Status

Chromosome

Chromosomal Location

52022644-52079872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52027965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 466 (V466M)

Ref Sequence

ENSEMBL: ENSMUSP00000150821 (fasta)

Gene Model

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

AlphaFold

Q5DTV4

Predicted Effect

probably benign
Transcript: ENSMUST00000165519
AA Change: V485M

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127603
Gene: ENSMUSG00000035164
AA Change: V485M

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: V466M

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,095,748 (GRCm39)	I238T	probably damaging	Het
Akap4	T	C	X: 6,942,729 (GRCm39)	V344A	possibly damaging	Het
Apex2	T	C	X: 149,355,048 (GRCm39)	K430E	probably benign	Het
Aqp9	C	T	9: 71,040,013 (GRCm39)	A90T	probably damaging	Het
Asb15	T	A	6: 24,558,642 (GRCm39)		probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Bspry	G	T	4: 62,414,342 (GRCm39)	D312Y	probably benign	Het
Cdh16	G	A	8: 105,350,045 (GRCm39)	R5W	probably benign	Het
Ciz1	C	T	2: 32,262,400 (GRCm39)	R461C	probably damaging	Het
Cldn14	T	A	16: 93,716,189 (GRCm39)	D219V	probably benign	Het
Clpb	A	T	7: 101,436,952 (GRCm39)	T706S	probably benign	Het
Cyp2d11	A	T	15: 82,276,669 (GRCm39)	M90K	probably benign	Het
Cyp2j8	T	A	4: 96,332,853 (GRCm39)	I498F	possibly damaging	Het
Dnah2	A	G	11: 69,385,892 (GRCm39)		probably benign	Het
Dpyd	T	A	3: 118,737,891 (GRCm39)	F477L	probably damaging	Het
Dscaml1	C	A	9: 45,581,498 (GRCm39)	S439*	probably null	Het
Faxc	A	G	4: 21,958,490 (GRCm39)	K216E	possibly damaging	Het
Fmo1	C	T	1: 162,663,815 (GRCm39)	R238Q	probably damaging	Het
Gm14399	G	A	2: 174,973,315 (GRCm39)	R147*	probably null	Het
H2-Ab1	G	A	17: 34,486,549 (GRCm39)	V203M	probably damaging	Het
Heatr5b	T	C	17: 79,060,570 (GRCm39)	E2035G	probably damaging	Het
Hip1	A	G	5: 135,455,200 (GRCm39)	I786T	probably damaging	Het
Homer1	T	C	13: 93,524,196 (GRCm39)		probably benign	Het
Igkv9-120	A	G	6: 68,026,971 (GRCm39)	D2G	possibly damaging	Het
Irgm1	A	T	11: 48,756,832 (GRCm39)	Y326*	probably null	Het
Kctd19	A	T	8: 106,115,095 (GRCm39)		probably null	Het
Large1	T	C	8: 73,550,469 (GRCm39)		probably null	Het
Mzf1	G	A	7: 12,778,543 (GRCm39)	A287V	possibly damaging	Het
Nes	A	T	3: 87,883,561 (GRCm39)	K607*	probably null	Het
Pars2	T	A	4: 106,511,247 (GRCm39)	V307E	probably damaging	Het
Pcsk5	T	A	19: 17,488,785 (GRCm39)	I1012F	possibly damaging	Het
Pole	T	C	5: 110,451,431 (GRCm39)		probably benign	Het
Rbm14	T	C	19: 4,852,576 (GRCm39)		probably benign	Het
Scn2a	A	T	2: 65,594,866 (GRCm39)	Q1905L	probably benign	Het
Slc26a2	A	G	18: 61,331,812 (GRCm39)	F540L	probably benign	Het
Slco2a1	T	C	9: 102,956,640 (GRCm39)		probably benign	Het
Tas2r106	T	C	6: 131,654,922 (GRCm39)		probably null	Het
Tmem175	T	A	5: 108,793,732 (GRCm39)	D287E	probably benign	Het
Trappc12	T	C	12: 28,787,835 (GRCm39)	K416R	probably damaging	Het
Trim2	A	G	3: 84,115,596 (GRCm39)	L86P	probably damaging	Het
Vps13c	T	A	9: 67,783,544 (GRCm39)	N240K	probably damaging	Het
Wdr90	A	C	17: 26,068,338 (GRCm39)	I1330S	probably damaging	Het
Wfdc6a	A	G	2: 164,426,914 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,768,543 (GRCm39)	T1025A	probably damaging	Het

Other mutations in Zc3h12c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4163:Zc3h12c	UTSW	9	52,026,999 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2012-04-20