Mutagenetix > Incidental Mutation

Incidental Mutation 'R9000:Zcchc14'

684919

Institutional Source

Beutler Lab

Gene Symbol

Zcchc14

Ensembl Gene

ENSMUSG00000061410

Gene Name

zinc finger, CCHC domain containing 14

Synonyms

Bdg29

MMRRC Submission

068831-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9000 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122325442-122379640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 122336880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 178 (H178P)

Ref Sequence

ENSEMBL: ENSMUSP00000040360 (fasta)

Gene Model

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

AlphaFold

Q8VIG0

Predicted Effect

unknown
Transcript: ENSMUST00000046386
AA Change: H178P

SMART Domains

Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: H178P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

90% (55/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,353,195 (GRCm39)	N749S	probably damaging	Het
Acsl5	T	C	19: 55,283,943 (GRCm39)	*684Q	probably null	Het
Actr5	A	T	2: 158,478,610 (GRCm39)	T487S	probably benign	Het
Adam18	T	A	8: 25,127,162 (GRCm39)	H478L	probably benign	Het
Adam5	A	T	8: 25,294,372 (GRCm39)		probably null	Het
Adamts3	T	C	5: 89,854,570 (GRCm39)	N475S	probably benign	Het
Akap9	G	A	5: 4,105,650 (GRCm39)	R2907H	probably benign	Het
Anapc1	A	G	2: 128,476,628 (GRCm39)	V1330A	probably damaging	Het
Arhgef37	A	T	18: 61,637,333 (GRCm39)	M443K	possibly damaging	Het
Atp13a1	T	A	8: 70,254,725 (GRCm39)	H753Q	probably damaging	Het
C2cd3	A	G	7: 100,065,281 (GRCm39)	H311R		Het
Cdh23	A	G	10: 60,140,277 (GRCm39)	Y3222H	possibly damaging	Het
Ces2f	A	G	8: 105,677,661 (GRCm39)	D222G	probably benign	Het
Cnot9	C	T	1: 74,561,544 (GRCm39)	R130C	probably benign	Het
Cntnap2	G	A	6: 46,461,139 (GRCm39)		probably benign	Het
Daam2	A	G	17: 49,769,197 (GRCm39)	L932P	probably damaging	Het
Dgki	T	C	6: 37,074,643 (GRCm39)		probably benign	Het
Dync1h1	A	C	12: 110,606,397 (GRCm39)	Q2489P	probably benign	Het
Elovl2	A	G	13: 41,338,810 (GRCm39)	L280S	probably benign	Het
Fat1	C	A	8: 45,497,587 (GRCm39)	Y4357*	probably null	Het
Fat3	T	A	9: 15,871,816 (GRCm39)	Q3525L	possibly damaging	Het
Fat3	T	C	9: 15,918,095 (GRCm39)	I1443V	probably benign	Het
Fzd1	A	G	5: 4,806,211 (GRCm39)	I457T	probably damaging	Het
Kcnq5	G	T	1: 21,557,483 (GRCm39)	F332L	probably damaging	Het
Meiob	A	G	17: 25,047,916 (GRCm39)		probably benign	Het
Mrgprb4	A	G	7: 47,848,769 (GRCm39)	L53P	probably damaging	Het
Myt1l	G	A	12: 29,901,740 (GRCm39)	V832I	unknown	Het
Nckap5l	G	A	15: 99,321,310 (GRCm39)	P1186S	probably damaging	Het
Ndufa4l2	A	T	10: 127,350,898 (GRCm39)	R16S	probably benign	Het
Nrg2	T	C	18: 36,151,682 (GRCm39)	Y620C	probably damaging	Het
Or4p4b-ps1	T	A	2: 88,454,525 (GRCm39)	*293R	probably null	Het
Or52a24	T	C	7: 103,381,672 (GRCm39)	S180P	probably damaging	Het
Pip4k2a	T	G	2: 18,877,240 (GRCm39)	Y165S	possibly damaging	Het
Plcd4	T	A	1: 74,601,024 (GRCm39)	C500*	probably null	Het
Plcl1	C	T	1: 55,736,990 (GRCm39)	P777L	probably damaging	Het
Pnliprp2	T	C	19: 58,762,555 (GRCm39)	Y387H	probably benign	Het
Prdm15	A	T	16: 97,595,470 (GRCm39)	D1119E	probably benign	Het
Prss51	T	C	14: 64,332,420 (GRCm39)	S36P	possibly damaging	Het
Prune1	A	G	3: 95,162,635 (GRCm39)	V346A	probably benign	Het
Saxo5	T	C	8: 3,526,083 (GRCm39)	S79P	possibly damaging	Het
Scn5a	T	C	9: 119,321,171 (GRCm39)	T1464A	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGG	GGGGCCCAGCTCAGCCACAGGG	7: 126,066,743 (GRCm39)		probably benign	Het
Sim1	T	G	10: 50,860,316 (GRCm39)	I726S	probably benign	Het
Sim1	T	G	10: 50,860,317 (GRCm39)	I726M	possibly damaging	Het
Slc38a4	G	A	15: 96,897,475 (GRCm39)	P447S	possibly damaging	Het
Slc5a12	A	G	2: 110,454,525 (GRCm39)	E362G	probably damaging	Het
Slc5a8	C	A	10: 88,762,089 (GRCm39)	N576K	probably benign	Het
Slc5a8	T	A	10: 88,762,090 (GRCm39)	Y577N	probably benign	Het
Snn	A	G	16: 10,890,322 (GRCm39)	E47G	probably damaging	Het
Snx19	T	C	9: 30,375,619 (GRCm39)	V207A	unknown	Het
Srcap	G	A	7: 127,130,943 (GRCm39)	V720I	possibly damaging	Het
Syn3	T	A	10: 85,893,489 (GRCm39)	R451S	unknown	Het
Tdrp	A	G	8: 14,003,989 (GRCm39)	V116A	probably benign	Het
Tef	G	A	15: 81,695,773 (GRCm39)	M1I	probably null	Het
Vmn1r232	T	C	17: 21,134,111 (GRCm39)	K163R	probably damaging	Het
Wrnip1	A	G	13: 32,986,711 (GRCm39)	E164G	probably damaging	Het
Zfp37	T	G	4: 62,126,651 (GRCm39)	K69T	unknown	Het
Zfp947	A	G	17: 22,365,161 (GRCm39)	L171P	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
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
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'- GCTTTTAACCGCTCAGCAC -3'
(R):5'- TGGAAAGGTCCTACTGCAGC -3'

Sequencing Primer
(F):5'- TGACGGCTTACATCCCAGG -3'
(R):5'- AAAGGTCCTACTGCAGCTGCTG -3'

Posted On

2021-10-11