Mutagenetix > Incidental Mutation

Incidental Mutation 'R5253:Zcchc14'

399230

Institutional Source

Beutler Lab

Gene Symbol

Zcchc14

Ensembl Gene

ENSMUSG00000061410

Gene Name

zinc finger, CCHC domain containing 14

Synonyms

Bdg29

MMRRC Submission

042824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5253 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122325442-122379640 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 122345433 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: I106V

SMART Domains

Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: I106V

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

Meta Mutation Damage Score

0.0599

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	T	C	9: 39,962,746 (GRCm39)		noncoding transcript	Het
Actrt2	A	C	4: 154,752,026 (GRCm39)	S37A	possibly damaging	Het
Adcy7	T	C	8: 89,040,742 (GRCm39)	I327T	probably damaging	Het
Ankrd13b	A	G	11: 77,364,061 (GRCm39)		probably benign	Het
Arap1	A	C	7: 101,037,851 (GRCm39)	I237L	probably benign	Het
Arhgap17	A	T	7: 122,902,971 (GRCm39)	Y359N	probably benign	Het
Atad1	A	G	19: 32,651,702 (GRCm39)	M343T	probably benign	Het
Cacna1b	A	T	2: 24,609,964 (GRCm39)	I392N	probably damaging	Het
Cacna1c	A	G	6: 118,574,930 (GRCm39)	S1914P	probably benign	Het
Cd300a	G	T	11: 114,785,577 (GRCm39)	R174L	probably benign	Het
Dip2a	G	A	10: 76,135,831 (GRCm39)	P356L	probably damaging	Het
Dsg1c	T	C	18: 20,405,436 (GRCm39)	L283P	probably damaging	Het
Dusp1	T	C	17: 26,727,191 (GRCm39)	N36S	probably benign	Het
Dync2i2	T	A	2: 29,922,375 (GRCm39)		probably benign	Het
Ercc3	C	A	18: 32,402,917 (GRCm39)	P776Q	probably damaging	Het
Etv1	A	G	12: 38,902,248 (GRCm39)	R260G	possibly damaging	Het
Fa2h	C	G	8: 112,075,869 (GRCm39)	M251I	probably benign	Het
Fcsk	T	C	8: 111,610,499 (GRCm39)	E968G	possibly damaging	Het
Flg2	A	G	3: 93,108,119 (GRCm39)	D49G	probably damaging	Het
Fras1	A	G	5: 96,888,884 (GRCm39)	E2810G	probably damaging	Het
Gabbr1	T	C	17: 37,366,805 (GRCm39)	F343S	possibly damaging	Het
Gdf2	A	G	14: 33,667,264 (GRCm39)	T329A	probably benign	Het
Hcn4	T	A	9: 58,731,558 (GRCm39)	I255N	unknown	Het
Hk3	T	G	13: 55,158,824 (GRCm39)	D485A	probably damaging	Het
Hook3	T	C	8: 26,562,319 (GRCm39)	T249A	probably benign	Het
Kcp	C	T	6: 29,498,519 (GRCm39)		probably benign	Het
Kifc2	G	T	15: 76,550,481 (GRCm39)	R515L	possibly damaging	Het
Kiss1r	A	G	10: 79,756,584 (GRCm39)	Y142C	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klrb1a	T	A	6: 128,596,126 (GRCm39)	I72L	probably benign	Het
Lep	T	A	6: 29,070,862 (GRCm39)	F62Y	probably damaging	Het
Lrtm1	A	G	14: 28,743,801 (GRCm39)	T90A	probably benign	Het
Mug1	A	T	6: 121,865,872 (GRCm39)	D1472V	probably benign	Het
Ncor2	G	T	5: 125,103,994 (GRCm39)	P1988Q	probably benign	Het
Nlrp4a	C	T	7: 26,149,917 (GRCm39)	S508L	probably benign	Het
Obp2b	T	A	2: 25,627,155 (GRCm39)	D29E	probably benign	Het
Or10ag2	G	A	2: 87,249,012 (GRCm39)	V207M	possibly damaging	Het
Or4c109	A	G	2: 88,818,444 (GRCm39)	L34P	possibly damaging	Het
Or4c119	A	T	2: 88,986,801 (GRCm39)	C239*	probably null	Het
Or4k15b	T	C	14: 50,272,745 (GRCm39)	I38M	possibly damaging	Het
Or6c3b	A	G	10: 129,527,601 (GRCm39)	I103T	probably damaging	Het
Otof	A	G	5: 30,527,483 (GRCm39)	S1985P	probably damaging	Het
Oxct2a	A	T	4: 123,216,886 (GRCm39)	V165E	probably damaging	Het
Pcdhgb7	T	C	18: 37,886,150 (GRCm39)	V440A	possibly damaging	Het
Pelp1	C	A	11: 70,292,487 (GRCm39)	G211C	probably damaging	Het
Phox2a	A	G	7: 101,471,312 (GRCm39)	H268R	probably benign	Het
Pik3c2g	T	C	6: 139,841,983 (GRCm39)		probably null	Het
Pramel1	T	A	4: 143,125,156 (GRCm39)	M360K	probably benign	Het
Rbm6	C	T	9: 107,729,856 (GRCm39)	R132K	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc45a1	T	C	4: 150,722,727 (GRCm39)	T386A	probably damaging	Het
Smad2	A	G	18: 76,421,124 (GRCm39)	Y151C	probably damaging	Het
Sptbn2	G	A	19: 4,800,110 (GRCm39)	G2188D	probably benign	Het
Sugt1	G	A	14: 79,840,341 (GRCm39)		probably null	Het
Tctn3	T	C	19: 40,595,685 (GRCm39)	S367G	probably benign	Het
Tead1	G	T	7: 112,460,752 (GRCm39)	D219Y	probably damaging	Het
Tenm2	G	T	11: 35,938,028 (GRCm39)	Y1548*	probably null	Het
Tenm3	T	A	8: 48,682,233 (GRCm39)	I2466F	possibly damaging	Het
Tent4b	C	A	8: 88,926,651 (GRCm39)	H20Q	possibly damaging	Het
Tgm2	G	A	2: 157,971,358 (GRCm39)	P294S	probably damaging	Het
Tns2	T	C	15: 102,019,888 (GRCm39)	S585P	probably damaging	Het
Ttc41	A	G	10: 86,566,806 (GRCm39)	K491E	probably benign	Het
Ttn	G	A	2: 76,621,895 (GRCm39)	T15549I	probably damaging	Het
Vmn1r157	T	C	7: 22,461,183 (GRCm39)	L21P	probably damaging	Het
Vmn2r81	A	G	10: 79,083,820 (GRCm39)	M65V	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
P0033:Zcchc14	UTSW	8	122,336,898 (GRCm39)	intron	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
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

Predicted Primers

PCR Primer
(F):5'- AAATTCATGGGCCCTGGAG -3'
(R):5'- GTCCCTTGGCCTTGTAAGAC -3'

Sequencing Primer
(F):5'- AATTCATGGGCCCTGGAGCTTAG -3'
(R):5'- GTAAGACTGATGCAGACGCTCTTC -3'

Posted On

2016-07-06