Mutagenetix > Incidental Mutations

Incidental Mutation 'R6364:Zcchc14'

513421

Institutional Source

Beutler Lab

Gene Symbol

Zcchc14

Ensembl Gene

ENSMUSG00000061410

Gene Name

zinc finger, CCHC domain containing 14

Synonyms

Bdg29

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6364 (G1)

Quality Score

192.009

Status

Validated

Chromosome

Chromosomal Location

121598703-121652901 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 121604859 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8VIG0

Predicted Effect

unknown
Transcript: ENSMUST00000046386
AA Change: N588K

SMART Domains

Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: N588K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154725

SMART Domains

Protein: ENSMUSP00000120570
Gene: ENSMUSG00000061410

Domain	Start	End	E-Value	Type
low complexity region	7	88	N/A	INTRINSIC
low complexity region	89	106	N/A	INTRINSIC
ZnF_C2HC	212	228	3.44e-4	SMART

Meta Mutation Damage Score

0.0783

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,721,814	Y234C	possibly damaging	Het
Als2cr12	G	T	1: 58,658,372	A403D	probably damaging	Het
Ambra1	C	A	2: 91,773,316	H548Q	possibly damaging	Het
Ap3d1	T	C	10: 80,710,494		probably null	Het
Apol11b	A	G	15: 77,638,058	V13A	possibly damaging	Het
Arhgdib	C	T	6: 136,932,255		probably null	Het
B3galt1	T	A	2: 68,118,672	S244T	probably damaging	Het
Bace2	A	G	16: 97,413,433	I274V	probably benign	Het
Bfsp2	A	T	9: 103,448,628	V272D	probably damaging	Het
Blm	A	T	7: 80,494,526	C782*	probably null	Het
Cfi	G	A	3: 129,872,846	S406N	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Cic	C	A	7: 25,272,823	H660N	possibly damaging	Het
Cops3	A	G	11: 59,835,404		probably benign	Het
Dlec1	G	A	9: 119,121,871	V502I	possibly damaging	Het
Epop	A	G	11: 97,628,687	S199P	probably benign	Het
Evi5	G	T	5: 107,842,113	P80Q	probably damaging	Het
Faf1	T	C	4: 109,961,800	V623A	possibly damaging	Het
Fam129c	G	A	8: 71,599,089	G23S	probably benign	Het
Fam83c	T	C	2: 155,834,523	D109G	probably damaging	Het
Fam83d	T	C	2: 158,783,259		probably null	Het
Foxn3	T	C	12: 99,388,693	N71D	probably benign	Het
Gm7298	A	G	6: 121,779,443	R1016G	possibly damaging	Het
Grin2d	T	C	7: 45,858,454	E396G	possibly damaging	Het
Htra2	C	A	6: 83,053,046	V311F	probably damaging	Het
Kif6	A	T	17: 49,620,623	T33S	probably benign	Het
Kmt2c	T	C	5: 25,309,636	I3070V	probably null	Het
Krtap5-2	A	T	7: 142,175,063	C293*	probably null	Het
Lrp3	T	A	7: 35,203,709	D404V	probably benign	Het
Mc2r	T	G	18: 68,407,536	I229L	probably benign	Het
Mtnr1b	A	G	9: 15,863,004	M253T	possibly damaging	Het
Nfat5	A	G	8: 107,368,277	N531S	probably benign	Het
Npr2	T	A	4: 43,643,622	I550N	probably damaging	Het
Npy6r	T	C	18: 44,276,511	I333T	possibly damaging	Het
Nup88	C	T	11: 70,947,786	R468Q	probably benign	Het
Nup98	G	A	7: 102,176,315	T422I	probably damaging	Het
Olfr433	T	A	1: 174,042,212	H87Q	possibly damaging	Het
Oraov1	A	G	7: 144,919,268	D105G	probably benign	Het
Otud4	A	G	8: 79,646,341	N96S	probably damaging	Het
Paqr6	T	C	3: 88,365,958	F86L	probably damaging	Het
Ppp4r3b	A	T	11: 29,188,035	T90S	probably benign	Het
Ptbp2	A	T	3: 119,740,442	N23K	probably damaging	Het
Ralgapb	G	T	2: 158,462,109	G596V	probably damaging	Het
Rdm1	G	A	11: 101,630,242	R94H	probably benign	Het
Rergl	A	T	6: 139,500,748	F28I	probably damaging	Het
Rif1	G	T	2: 52,107,669	S1000I	probably damaging	Het
Rnf141	C	T	7: 110,821,309	A163T	possibly damaging	Het
Scaf4	G	A	16: 90,260,248	Q72*	probably null	Het
Sdk1	G	T	5: 141,962,709	S603I	probably benign	Het
Sdsl	T	C	5: 120,460,609	I147M	probably damaging	Het
Serpina6	T	C	12: 103,654,236	N85D	probably benign	Het
Serpinf2	A	G	11: 75,436,489	I204T	probably damaging	Het
Shank2	A	G	7: 144,410,409	S795G	probably benign	Het
Simc1	C	T	13: 54,524,600	Q254*	probably null	Het
Slc30a3	G	A	5: 31,088,739	P216S	possibly damaging	Het
Smim14	T	A	5: 65,453,296	I53F	probably benign	Het
Sp3	T	C	2: 72,970,941	T243A	probably benign	Het
Srpk2	A	G	5: 23,540,467	F164L	probably damaging	Het
Stard9	T	C	2: 120,713,429	F4403L	probably damaging	Het
Tbc1d30	T	C	10: 121,294,725	T267A	possibly damaging	Het
Tgm7	T	A	2: 121,096,397	R424*	probably null	Het
Tmbim6	T	C	15: 99,406,185	L113P	probably damaging	Het
Tmcc1	G	A	6: 116,043,761		probably benign	Het
Tomm7	A	G	5: 23,844,030	L15P	probably damaging	Het
Tpcn1	T	C	5: 120,553,810	Y263C	probably damaging	Het
Trim34b	T	C	7: 104,336,526	F456S	probably damaging	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r108	A	G	17: 20,470,998	I421T	probably benign	Het
Wdr43	A	G	17: 71,657,654	E676G	probably damaging	Het
Wdr60	A	T	12: 116,241,732	D412E	probably damaging	Het
Zfp64	C	A	2: 168,912,266	G25V	probably damaging	Het
Zswim8	C	A	14: 20,713,011	P326H	probably damaging	Het

Other mutations in Zcchc14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02035:Zcchc14	APN	8	121604615	unclassified	probably benign
IGL02060:Zcchc14	APN	8	121603895	missense	probably damaging	0.98
IGL02455:Zcchc14	APN	8	121606270	unclassified	probably benign
IGL03196:Zcchc14	APN	8	121609138	unclassified	probably benign
P0033:Zcchc14	UTSW	8	121610159	intron	probably benign
R0483:Zcchc14	UTSW	8	121628649	intron	probably benign
R0639:Zcchc14	UTSW	8	121605449	nonsense	probably null
R1013:Zcchc14	UTSW	8	121606925	unclassified	probably benign
R1129:Zcchc14	UTSW	8	121608415	unclassified	probably benign
R1546:Zcchc14	UTSW	8	121604263	intron	probably benign
R1563:Zcchc14	UTSW	8	121603979	missense	probably benign	0.10
R1861:Zcchc14	UTSW	8	121609251	unclassified	probably benign
R2200:Zcchc14	UTSW	8	121605428	unclassified	probably benign
R2419:Zcchc14	UTSW	8	121603936	missense	probably damaging	0.99
R4246:Zcchc14	UTSW	8	121604292	small deletion	probably benign
R4249:Zcchc14	UTSW	8	121604292	small deletion	probably benign
R4424:Zcchc14	UTSW	8	121651941	intron	probably benign
R4470:Zcchc14	UTSW	8	121651759	intron	probably benign
R4520:Zcchc14	UTSW	8	121609095	unclassified	probably benign
R4681:Zcchc14	UTSW	8	121608600	unclassified	probably benign
R5253:Zcchc14	UTSW	8	121618694	intron	probably benign
R5314:Zcchc14	UTSW	8	121608598	unclassified	probably benign
R5591:Zcchc14	UTSW	8	121605448	unclassified	probably benign
R5746:Zcchc14	UTSW	8	121604639	unclassified	probably benign
R5781:Zcchc14	UTSW	8	121604593	unclassified	probably benign
R5897:Zcchc14	UTSW	8	121605160	unclassified	probably benign
R5930:Zcchc14	UTSW	8	121611358	intron	probably benign
R5963:Zcchc14	UTSW	8	121628623	intron	probably benign
R6562:Zcchc14	UTSW	8	121604103	missense	probably damaging	0.99
R6579:Zcchc14	UTSW	8	121604467	intron	probably benign
R6592:Zcchc14	UTSW	8	121604639	unclassified	probably benign
R6699:Zcchc14	UTSW	8	121608616	unclassified	probably benign
R7195:Zcchc14	UTSW	8	121608461	missense	unknown
R7420:Zcchc14	UTSW	8	121651791	intron	probably benign
R7490:Zcchc14	UTSW	8	121605017	missense	unknown
R7597:Zcchc14	UTSW	8	121608500	missense	unknown
R7758:Zcchc14	UTSW	8	121604689	missense	unknown
R7773:Zcchc14	UTSW	8	121651775	missense	unknown
R7831:Zcchc14	UTSW	8	121605245	missense	not run
R7889:Zcchc14	UTSW	8	121604895	missense	unknown
R7919:Zcchc14	UTSW	8	121604173	missense	probably damaging	1.00
R9000:Zcchc14	UTSW	8	121610141	missense	unknown
R9124:Zcchc14	UTSW	8	121605230	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCTATTGGCGCAGAAGCTG -3'
(R):5'- TGAACTCCGTGCACAAGTCAG -3'

Sequencing Primer
(F):5'- TGGGACAAGAAGTCTGCCC -3'
(R):5'- TCCGTGCACAAGTCAGACAGG -3'

Posted On

2018-04-27