Mutagenetix > Incidental Mutation

Incidental Mutation 'P0033:Zcchc14'

7729

Institutional Source

Beutler Lab

Gene Symbol

Zcchc14

Ensembl Gene

ENSMUSG00000061410

Gene Name

zinc finger, CCHC domain containing 14

Synonyms

Bdg29

MMRRC Submission

038284-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

P0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

122325442-122379640 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 122336898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046386] [ENSMUST00000127664]

AlphaFold

Q8VIG0

Predicted Effect

unknown
Transcript: ENSMUST00000046386
AA Change: F172C

SMART Domains

Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: F172C

Domain	Start	End	E-Value	Type
low complexity region	30	41	N/A	INTRINSIC
low complexity region	129	145	N/A	INTRINSIC
low complexity region	206	225	N/A	INTRINSIC
low complexity region	246	265	N/A	INTRINSIC
Blast:SAM	299	349	2e-25	BLAST
SCOP:d1kw4a_	307	358	1e-6	SMART
low complexity region	422	432	N/A	INTRINSIC
low complexity region	438	454	N/A	INTRINSIC
low complexity region	532	543	N/A	INTRINSIC
low complexity region	709	790	N/A	INTRINSIC
low complexity region	791	808	N/A	INTRINSIC
ZnF_C2HC	914	930	3.44e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139379

Meta Mutation Damage Score

0.2038

Coding Region Coverage

1x: 81.1%
3x: 72.9%
10x: 47.1%
20x: 23.7%

Validation Efficiency

86% (108/125)

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Depdc1a	T	C	3: 159,221,778 (GRCm39)	S241P	probably damaging	Het
Dusp19	T	A	2: 80,447,729 (GRCm39)	M1K	probably null	Het
Egfem1	G	C	3: 29,744,340 (GRCm39)	Q526H	probably damaging	Het
Gm10856	C	A	15: 79,730,023 (GRCm39)		noncoding transcript	Het
Gm5901	A	G	7: 105,026,712 (GRCm39)	Y160C	probably damaging	Het
Hmg20a	A	G	9: 56,397,108 (GRCm39)	S303G	probably benign	Het
Lmbrd1	A	G	1: 24,724,646 (GRCm39)	T77A	possibly damaging	Het
Map3k5	C	T	10: 20,007,959 (GRCm39)		probably benign	Het
Ncapg2	G	A	12: 116,402,255 (GRCm39)	V696I	probably benign	Het
Orm3	A	T	4: 63,274,539 (GRCm39)	T35S	probably damaging	Het
Pdgfra	A	G	5: 75,353,222 (GRCm39)	E1004G	probably damaging	Het
Pigg	T	A	5: 108,489,944 (GRCm39)	F850I	probably damaging	Het
Ppip5k2	A	G	1: 97,645,253 (GRCm39)	V1067A	probably damaging	Het
Ptprd	T	A	4: 76,047,091 (GRCm39)	R392*	probably null	Het
Rad54b	T	A	4: 11,609,285 (GRCm39)		probably benign	Het
Rapgef4	T	C	2: 71,967,675 (GRCm39)		probably benign	Het
Rasef	T	C	4: 73,668,089 (GRCm39)	N134S	probably benign	Het
Sfswap	C	T	5: 129,616,819 (GRCm39)	P421L	possibly damaging	Het
Sorcs1	T	A	19: 50,141,345 (GRCm39)	I1129F	probably damaging	Het
Spats2l	G	A	1: 57,924,997 (GRCm39)	E132K	probably damaging	Het
Tet3	A	G	6: 83,345,494 (GRCm39)	S1648P	probably damaging	Het
Ttc16	T	A	2: 32,652,586 (GRCm39)	T691S	probably benign	Het
Usp38	C	T	8: 81,708,525 (GRCm39)	D1018N	probably benign	Het

Other mutations in Zcchc14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02035:Zcchc14	APN	8	122,331,354 (GRCm39)	unclassified	probably benign
IGL02060:Zcchc14	APN	8	122,330,634 (GRCm39)	missense	probably damaging	0.98
IGL02455:Zcchc14	APN	8	122,333,009 (GRCm39)	unclassified	probably benign
IGL03196:Zcchc14	APN	8	122,335,877 (GRCm39)	unclassified	probably benign
R0483:Zcchc14	UTSW	8	122,355,388 (GRCm39)	intron	probably benign
R0639:Zcchc14	UTSW	8	122,332,188 (GRCm39)	nonsense	probably null
R1013:Zcchc14	UTSW	8	122,333,664 (GRCm39)	unclassified	probably benign
R1129:Zcchc14	UTSW	8	122,335,154 (GRCm39)	unclassified	probably benign
R1546:Zcchc14	UTSW	8	122,331,002 (GRCm39)	intron	probably benign
R1563:Zcchc14	UTSW	8	122,330,718 (GRCm39)	missense	probably benign	0.10
R1861:Zcchc14	UTSW	8	122,335,990 (GRCm39)	unclassified	probably benign
R2200:Zcchc14	UTSW	8	122,332,167 (GRCm39)	unclassified	probably benign
R2419:Zcchc14	UTSW	8	122,330,675 (GRCm39)	missense	probably damaging	0.99
R4246:Zcchc14	UTSW	8	122,331,031 (GRCm39)	small deletion	probably benign
R4249:Zcchc14	UTSW	8	122,331,031 (GRCm39)	small deletion	probably benign
R4424:Zcchc14	UTSW	8	122,378,680 (GRCm39)	intron	probably benign
R4470:Zcchc14	UTSW	8	122,378,498 (GRCm39)	intron	probably benign
R4520:Zcchc14	UTSW	8	122,335,834 (GRCm39)	unclassified	probably benign
R4681:Zcchc14	UTSW	8	122,335,339 (GRCm39)	unclassified	probably benign
R5253:Zcchc14	UTSW	8	122,345,433 (GRCm39)	intron	probably benign
R5314:Zcchc14	UTSW	8	122,335,337 (GRCm39)	unclassified	probably benign
R5591:Zcchc14	UTSW	8	122,332,187 (GRCm39)	unclassified	probably benign
R5746:Zcchc14	UTSW	8	122,331,378 (GRCm39)	unclassified	probably benign
R5781:Zcchc14	UTSW	8	122,331,332 (GRCm39)	unclassified	probably benign
R5897:Zcchc14	UTSW	8	122,331,899 (GRCm39)	unclassified	probably benign
R5930:Zcchc14	UTSW	8	122,338,097 (GRCm39)	intron	probably benign
R5963:Zcchc14	UTSW	8	122,355,362 (GRCm39)	intron	probably benign
R6364:Zcchc14	UTSW	8	122,331,598 (GRCm39)	unclassified	probably benign
R6562:Zcchc14	UTSW	8	122,330,842 (GRCm39)	missense	probably damaging	0.99
R6579:Zcchc14	UTSW	8	122,331,206 (GRCm39)	intron	probably benign
R6592:Zcchc14	UTSW	8	122,331,378 (GRCm39)	unclassified	probably benign
R6699:Zcchc14	UTSW	8	122,335,355 (GRCm39)	unclassified	probably benign
R7195:Zcchc14	UTSW	8	122,335,200 (GRCm39)	missense	unknown
R7420:Zcchc14	UTSW	8	122,378,530 (GRCm39)	intron	probably benign
R7490:Zcchc14	UTSW	8	122,331,756 (GRCm39)	missense	unknown
R7597:Zcchc14	UTSW	8	122,335,239 (GRCm39)	missense	unknown
R7758:Zcchc14	UTSW	8	122,331,428 (GRCm39)	missense	unknown
R7773:Zcchc14	UTSW	8	122,378,514 (GRCm39)	missense	unknown
R7831:Zcchc14	UTSW	8	122,331,984 (GRCm39)	missense	not run
R7889:Zcchc14	UTSW	8	122,331,634 (GRCm39)	missense	unknown
R7919:Zcchc14	UTSW	8	122,330,912 (GRCm39)	missense	probably damaging	1.00
R9000:Zcchc14	UTSW	8	122,336,880 (GRCm39)	missense	unknown
R9124:Zcchc14	UTSW	8	122,331,969 (GRCm39)	missense	unknown
R9667:Zcchc14	UTSW	8	122,331,863 (GRCm39)	missense	unknown

Posted On

2012-10-29