Mutagenetix > Incidental Mutation

Incidental Mutation 'R6562:Zcchc14'

522469

Institutional Source

Beutler Lab

Gene Symbol

Zcchc14

Ensembl Gene

ENSMUSG00000061410

Gene Name

zinc finger, CCHC domain containing 14

Synonyms

Bdg29

MMRRC Submission

044686-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6562 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122325442-122379640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122330842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 840 (N840K)

Ref Sequence

ENSEMBL: ENSMUSP00000040360 (fasta)

Gene Model

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

AlphaFold

Q8VIG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000046386
AA Change: N840K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: N840K

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

unknown
Transcript: ENSMUST00000154725
AA Change: N137K

SMART Domains

Protein: ENSMUSP00000120570
Gene: ENSMUSG00000061410
AA Change: N137K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,970,543 (GRCm39)	K26E	probably benign	Het
Abt1	T	G	13: 23,607,758 (GRCm39)	E82A	probably damaging	Het
Actr8	A	G	14: 29,708,411 (GRCm39)		probably null	Het
Akap12	G	T	10: 4,306,141 (GRCm39)	E984*	probably null	Het
Ankrd13a	C	A	5: 114,942,453 (GRCm39)		probably benign	Het
Ankrd13c	T	A	3: 157,705,309 (GRCm39)	S411T	probably damaging	Het
Arhgef28	A	G	13: 98,124,647 (GRCm39)		probably null	Het
Arhgef3	A	T	14: 26,874,953 (GRCm39)		probably benign	Het
Atad5	T	C	11: 80,024,032 (GRCm39)	S1712P	probably benign	Het
Bbs12	A	G	3: 37,374,389 (GRCm39)	E394G	probably damaging	Het
Ccdc158	T	G	5: 92,810,581 (GRCm39)	K102N	probably damaging	Het
Ccdc169	A	G	3: 55,058,235 (GRCm39)	N89S	probably damaging	Het
Cd200l1	C	T	16: 45,264,442 (GRCm39)	E39K	probably benign	Het
Cenpu	T	C	8: 47,025,858 (GRCm39)	I132T	possibly damaging	Het
Cnrip1	G	A	11: 17,028,539 (GRCm39)	W157*	probably null	Het
Ctnnd1	A	G	2: 84,454,652 (GRCm39)	S53P	probably benign	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,879,647 (GRCm39)	V969D	probably damaging	Het
Ehd2	C	A	7: 15,691,492 (GRCm39)	R280L	probably benign	Het
Entpd5	T	C	12: 84,432,974 (GRCm39)	T218A	probably damaging	Het
Fcrl2	A	C	3: 87,164,635 (GRCm39)	I297S	probably benign	Het
Frmpd2	T	A	14: 33,293,872 (GRCm39)	L1346Q	probably benign	Het
Fry	T	C	5: 150,249,614 (GRCm39)	S142P	probably damaging	Het
Gbgt1	A	T	2: 28,394,898 (GRCm39)	I179F	probably damaging	Het
Gm17067	A	T	7: 42,358,153 (GRCm39)	S116R	probably damaging	Het
Gm5565	G	T	5: 146,094,964 (GRCm39)	P261T	probably damaging	Het
Kat6a	T	C	8: 23,401,803 (GRCm39)	F391L	probably benign	Het
Kcnmb4	A	T	10: 116,309,089 (GRCm39)		probably null	Het
Krt6a	T	A	15: 101,600,094 (GRCm39)	H386L	probably benign	Het
L3mbtl1	C	T	2: 162,812,124 (GRCm39)	T723I	probably benign	Het
Lamb2	A	T	9: 108,364,207 (GRCm39)	R1049W	possibly damaging	Het
Lrmda	T	C	14: 22,648,254 (GRCm39)		probably benign	Het
Lysmd2	C	T	9: 75,542,691 (GRCm39)	T95I	unknown	Het
Ndst3	A	G	3: 123,346,181 (GRCm39)	S698P	probably damaging	Het
Nin	T	C	12: 70,102,728 (GRCm39)	D300G	probably damaging	Het
Nutf2	G	T	8: 106,602,258 (GRCm39)	D23Y	probably benign	Het
Or6c211	G	A	10: 129,506,008 (GRCm39)	P127S	probably damaging	Het
Ovgp1	A	G	3: 105,887,589 (GRCm39)	Y300C	probably damaging	Het
Pgghg	A	G	7: 140,526,506 (GRCm39)	I633V	probably benign	Het
Pik3r3	C	T	4: 116,157,006 (GRCm39)	Q496*	probably null	Het
Pkn3	G	T	2: 29,970,699 (GRCm39)		probably null	Het
Plin2	A	T	4: 86,576,832 (GRCm39)	S298T	probably benign	Het
Prdm8	T	C	5: 98,331,202 (GRCm39)	V18A	possibly damaging	Het
Rel	C	A	11: 23,707,026 (GRCm39)	G59*	probably null	Het
Siglecg	A	G	7: 43,058,481 (GRCm39)	R123G	possibly damaging	Het
Slc13a1	T	A	6: 24,150,792 (GRCm39)	I49F	probably benign	Het
Slc39a10	T	A	1: 46,874,724 (GRCm39)	T193S	probably benign	Het
Slc9a3	T	A	13: 74,303,280 (GRCm39)	V191E	probably damaging	Het
Spata31e2	T	A	1: 26,721,443 (GRCm39)	T1246S	possibly damaging	Het
Sult2b1	A	C	7: 45,391,670 (GRCm39)	S39A	probably benign	Het
Tead1	A	G	7: 112,460,650 (GRCm39)	T185A	probably benign	Het
Tmem67	A	G	4: 12,053,445 (GRCm39)		probably null	Het
Trim12c	A	T	7: 103,994,341 (GRCm39)		probably null	Het
Trpm6	T	A	19: 18,815,406 (GRCm39)	F1164Y	probably damaging	Het
Ube2d1	C	T	10: 71,098,071 (GRCm39)	D16N	probably benign	Het
Vmn2r24	A	T	6: 123,757,386 (GRCm39)	I85F	probably benign	Het
Vwde	T	A	6: 13,193,122 (GRCm39)	N406Y	possibly damaging	Het
Wdr54	A	T	6: 83,132,050 (GRCm39)		probably null	Het
Zfp451	C	A	1: 33,801,260 (GRCm39)	S1052I	possibly damaging	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
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'- CACAGTTGTAACAGGACAGATTCC -3'
(R):5'- ATTCCTGCCTCAAGCCAGAG -3'

Sequencing Primer
(F):5'- ACTGGAGCCATTGGTGC -3'
(R):5'- CTCAAGCCAGAGCCACC -3'

Posted On

2018-06-06