Mutagenetix > Incidental Mutation

Incidental Mutation 'R5591:Zcchc14'

437529

Institutional Source

Beutler Lab

Gene Symbol

Zcchc14

Ensembl Gene

ENSMUSG00000061410

Gene Name

zinc finger, CCHC domain containing 14

Synonyms

Bdg29

MMRRC Submission

043269-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122325442-122379640 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 122332187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8VIG0

Predicted Effect

unknown
Transcript: ENSMUST00000046386
AA Change: R419Q

SMART Domains

Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: R419Q

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

0.0614

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh16a1	T	C	7: 44,794,076 (GRCm39)	E13G	probably null	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Bub1	A	T	2: 127,661,263 (GRCm39)	M276K	probably benign	Het
Casp14	A	T	10: 78,550,179 (GRCm39)	D156E	unknown	Het
Ccdc82	T	A	9: 13,272,822 (GRCm39)		probably null	Het
Cdc42bpb	T	C	12: 111,289,521 (GRCm39)	N436S	probably benign	Het
Cyp2j12	A	G	4: 96,029,359 (GRCm39)		probably benign	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Daxx	T	C	17: 34,130,662 (GRCm39)	S226P	probably damaging	Het
Gm3676	T	C	14: 41,365,181 (GRCm39)	Y158C	probably benign	Het
Gnai1	A	T	5: 18,476,844 (GRCm39)	I285K	probably benign	Het
Gpr179	C	T	11: 97,236,581 (GRCm39)	V417I	probably benign	Het
Helz2	C	T	2: 180,882,051 (GRCm39)	M247I	probably damaging	Het
Hmcn2	C	T	2: 31,234,059 (GRCm39)	L275F	probably damaging	Het
Ifi27l2b	A	G	12: 103,417,566 (GRCm39)	V207A	probably damaging	Het
Isg20l2	C	T	3: 87,837,731 (GRCm39)		probably benign	Het
Itga6	A	G	2: 71,670,934 (GRCm39)	D221G	probably damaging	Het
Lca5l	T	C	16: 95,979,929 (GRCm39)	Y67C	probably damaging	Het
Loxl3	T	A	6: 83,025,018 (GRCm39)	C249S	probably damaging	Het
Luc7l3	T	C	11: 94,184,060 (GRCm39)		probably benign	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mbd5	A	C	2: 49,164,681 (GRCm39)	Q958H	probably damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrm3	G	A	11: 76,140,907 (GRCm39)	R305H	probably benign	Het
Mtrex	A	T	13: 113,063,890 (GRCm39)	M1K	probably null	Het
Or10ak7	A	T	4: 118,791,658 (GRCm39)	I127K	probably damaging	Het
Or1j18	A	T	2: 36,625,244 (GRCm39)	I304F	probably benign	Het
Or2aj5	T	A	16: 19,424,608 (GRCm39)	Q270L	probably damaging	Het
Or2ak7	A	G	11: 58,574,951 (GRCm39)	N84S	probably benign	Het
Or2d3c	A	T	7: 106,526,489 (GRCm39)	M59K	probably damaging	Het
Or4c126	A	G	2: 89,823,751 (GRCm39)	T5A	possibly damaging	Het
Or51q1	G	T	7: 103,629,320 (GRCm39)	R307L	probably benign	Het
P3h3	C	T	6: 124,831,658 (GRCm39)		probably benign	Het
Pals2	A	G	6: 50,157,159 (GRCm39)	S276G	probably benign	Het
Plekhg3	C	T	12: 76,607,066 (GRCm39)	S42L	possibly damaging	Het
Polq	A	G	16: 36,832,247 (GRCm39)		probably benign	Het
Pramel16	T	C	4: 143,675,377 (GRCm39)	Y483C	probably damaging	Het
Pramel28	G	T	4: 143,691,530 (GRCm39)	L398I	probably damaging	Het
Raph1	G	A	1: 60,540,905 (GRCm39)		probably benign	Het
Rnf144b	G	A	13: 47,396,430 (GRCm39)		probably null	Het
Ryr2	A	G	13: 11,609,900 (GRCm39)	S4309P	probably benign	Het
Sash1	A	T	10: 8,601,482 (GRCm39)	S1158T	probably benign	Het
Sim2	T	C	16: 93,898,048 (GRCm39)	V94A	probably damaging	Het
Sirt5	A	G	13: 43,525,317 (GRCm39)	D42G	possibly damaging	Het
Smarcal1	A	T	1: 72,630,412 (GRCm39)	K155N	probably damaging	Het
Spam1	A	G	6: 24,800,545 (GRCm39)	Y428C	probably damaging	Het
Spef2	T	C	15: 9,583,922 (GRCm39)	N1655S	probably benign	Het
Sympk	A	G	7: 18,787,964 (GRCm39)	E1160G	probably damaging	Het
Tmem192	A	G	8: 65,418,254 (GRCm39)	Y168C	possibly damaging	Het
Ttn	T	A	2: 76,540,012 (GRCm39)	M25998L	probably benign	Het
Usp48	A	G	4: 137,379,963 (GRCm39)		probably benign	Het
Vamp4	A	G	1: 162,415,811 (GRCm39)	I71V	possibly damaging	Het
Washc5	C	A	15: 59,241,012 (GRCm39)	D108Y	probably damaging	Het
Wdfy4	T	A	14: 32,829,087 (GRCm39)	H1043L	probably benign	Het
Zfp407	A	G	18: 84,579,262 (GRCm39)	F617S	probably damaging	Het
Zfp869	T	A	8: 70,160,342 (GRCm39)	N77I	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
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'- TGTGCACGGAGTTCAGCATG -3'
(R):5'- GTGTCACCTAACGTACCACCTTG -3'

Sequencing Primer
(F):5'- TCAGTCCCCTCGACATGGATG -3'
(R):5'- TAACGTACCACCTTGAGTGCTTGG -3'

Posted On

2016-10-26