Mutagenetix > Incidental Mutation

Incidental Mutation 'R4230:Zc3h12c'

320797

Institutional Source

Beutler Lab

Gene Symbol

Zc3h12c

Ensembl Gene

ENSMUSG00000035164

Gene Name

zinc finger CCCH type containing 12C

Synonyms

C230027N18Rik

MMRRC Submission

041049-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4230 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52022644-52079872 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 52055728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150821 (fasta)

Gene Model

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

AlphaFold

Q5DTV4

Predicted Effect

probably null
Transcript: ENSMUST00000165519

SMART Domains

Protein: ENSMUSP00000127603
Gene: ENSMUSG00000035164

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

probably null
Transcript: ENSMUST00000213645

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Alg11	T	A	8: 22,555,534 (GRCm39)	I223N	probably damaging	Het
Ankrd26	G	C	6: 118,536,349 (GRCm39)		probably null	Het
Apbb1	T	C	7: 105,216,891 (GRCm39)	D264G	probably damaging	Het
Arhgap32	T	C	9: 32,168,770 (GRCm39)	Y918H	probably benign	Het
Astn2	T	G	4: 65,829,919 (GRCm39)	T584P	probably damaging	Het
Atxn7	G	A	14: 14,100,381 (GRCm38)	S689N	probably benign	Het
Cacna1h	T	C	17: 25,606,837 (GRCm39)	N873S	probably damaging	Het
Cadps	T	A	14: 12,488,987 (GRCm38)	I857F	probably damaging	Het
Cfap119	T	A	7: 127,186,002 (GRCm39)	M102L	probably benign	Het
Cog6	T	C	3: 52,900,229 (GRCm39)	T511A	probably benign	Het
Dppa3	A	T	6: 122,606,291 (GRCm39)	N118I	probably damaging	Het
Dst	A	G	1: 34,234,909 (GRCm39)	N3663D	probably benign	Het
Eif1ad14	A	T	12: 87,886,567 (GRCm39)	S21T	unknown	Het
Eme1	G	A	11: 94,538,818 (GRCm39)	T354M	possibly damaging	Het
Gm10735	T	C	13: 113,177,743 (GRCm39)		probably benign	Het
Ifi44l	A	T	3: 151,468,514 (GRCm39)	C5*	probably null	Het
Itln1	G	A	1: 171,362,375 (GRCm39)	T2I	probably benign	Het
Jam2	T	A	16: 84,618,180 (GRCm39)	M309K	possibly damaging	Het
Kcnk5	C	A	14: 20,194,852 (GRCm39)	C162F	probably damaging	Het
Metrn	A	G	17: 26,015,915 (GRCm39)		probably benign	Het
Muc5b	T	A	7: 141,417,259 (GRCm39)	Y3402N	probably benign	Het
Ncoa7	A	T	10: 30,574,253 (GRCm39)		probably null	Het
Nxpe4	A	G	9: 48,304,122 (GRCm39)	R70G	possibly damaging	Het
Onecut3	T	C	10: 80,349,793 (GRCm39)	I429T	probably damaging	Het
Or2n1	A	C	17: 38,486,772 (GRCm39)	I266L	possibly damaging	Het
Or2z9	T	C	8: 72,854,188 (GRCm39)	Y195H	probably damaging	Het
Or4k37	T	G	2: 111,159,475 (GRCm39)	L237R	probably damaging	Het
Or52e18	A	T	7: 104,609,801 (GRCm39)	I46N	probably benign	Het
Pds5a	A	G	5: 65,787,329 (GRCm39)	S858P	possibly damaging	Het
Phf11c	A	T	14: 59,630,516 (GRCm39)	V63E	probably benign	Het
Rasa3	A	G	8: 13,620,264 (GRCm39)	F802L	possibly damaging	Het
Sec24b	G	T	3: 129,834,368 (GRCm39)	Q141K	probably benign	Het
Sec61a1	A	T	6: 88,492,413 (GRCm39)		probably null	Het
Slc45a3	T	A	1: 131,909,399 (GRCm39)	L532Q	probably damaging	Het
Slc46a2	T	C	4: 59,914,048 (GRCm39)	I292V	probably benign	Het
Smg1	C	T	7: 117,747,956 (GRCm39)		probably null	Het
Spag6	T	A	2: 18,720,449 (GRCm39)		probably null	Het
Spi1	T	C	2: 90,945,680 (GRCm39)	F254L	probably damaging	Het
Sspo	T	C	6: 48,467,868 (GRCm39)	S4272P	probably benign	Het
Tgm5	T	C	2: 120,901,216 (GRCm39)	T292A	probably damaging	Het
Tmem229a	T	A	6: 24,954,831 (GRCm39)	I308F	probably damaging	Het
Ttn	T	C	2: 76,554,464 (GRCm39)	I30784V	possibly damaging	Het
Urod	T	A	4: 116,849,880 (GRCm39)	T173S	probably benign	Het
Vmn1r223	A	T	13: 23,433,585 (GRCm39)	M60L	probably benign	Het
Vmn2r2	T	A	3: 64,041,912 (GRCm39)	I268L	probably benign	Het
Vwa8	C	T	14: 79,320,292 (GRCm39)	T1101M	probably benign	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
R4163:Zc3h12c	UTSW	9	52,026,999 (GRCm39)	missense	probably damaging	1.00
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'- CCCCGAATTGACTGTATCCATTG -3'
(R):5'- AACCCAGTTTGGCTTTCTGG -3'

Sequencing Primer
(F):5'- AATTGACTGTATCCATTGTTGGTTTC -3'
(R):5'- CCCAGTTTGGCTTTCTGGTTACTTTG -3'

Posted On

2015-06-12