Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6562 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121598703-121652901 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121604103 bp

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]

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
4931408C20Rik	T	A	1: 26,682,362	T1246S	possibly damaging	Het
4933434E20Rik	A	G	3: 90,063,236	K26E	probably benign	Het
Abt1	T	G	13: 23,423,588	E82A	probably damaging	Het
Actr8	A	G	14: 29,986,454		probably null	Het
Akap12	G	T	10: 4,356,141	E984*	probably null	Het
Ankrd13a	C	A	5: 114,804,392		probably benign	Het
Ankrd13c	T	A	3: 157,999,672	S411T	probably damaging	Het
Arhgef28	A	G	13: 97,988,139		probably null	Het
Arhgef3	A	T	14: 27,152,996		probably benign	Het
Atad5	T	C	11: 80,133,206	S1712P	probably benign	Het
Bbs12	A	G	3: 37,320,240	E394G	probably damaging	Het
Ccdc158	T	G	5: 92,662,722	K102N	probably damaging	Het
Ccdc169	A	G	3: 55,150,814	N89S	probably damaging	Het
Cenpu	T	C	8: 46,572,823	I132T	possibly damaging	Het
Cnrip1	G	A	11: 17,078,539	W157*	probably null	Het
Ctnnd1	A	G	2: 84,624,308	S53P	probably benign	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 23,917,598		probably benign	Het
Dock7	A	T	4: 98,991,410	V969D	probably damaging	Het
Ehd2	C	A	7: 15,957,567	R280L	probably benign	Het
Entpd5	T	C	12: 84,386,200	T218A	probably damaging	Het
Fcrls	A	C	3: 87,257,328	I297S	probably benign	Het
Frmpd2	T	A	14: 33,571,915	L1346Q	probably benign	Het
Fry	T	C	5: 150,326,149	S142P	probably damaging	Het
Gbgt1	A	T	2: 28,504,886	I179F	probably damaging	Het
Gm17067	A	T	7: 42,708,729	S116R	probably damaging	Het
Gm5565	G	T	5: 146,158,154	P261T	probably damaging	Het
Gm609	C	T	16: 45,444,079	E39K	probably benign	Het
Kat6a	T	C	8: 22,911,787	F391L	probably benign	Het
Kcnmb4	A	T	10: 116,473,184		probably null	Het
Krt6a	T	A	15: 101,691,659	H386L	probably benign	Het
L3mbtl1	C	T	2: 162,970,204	T723I	probably benign	Het
Lamb2	A	T	9: 108,487,008	R1049W	possibly damaging	Het
Lrmda	T	C	14: 22,598,186		probably benign	Het
Lysmd2	C	T	9: 75,635,409	T95I	unknown	Het
Ndst3	A	G	3: 123,552,532	S698P	probably damaging	Het
Nin	T	C	12: 70,055,954	D300G	probably damaging	Het
Nutf2	G	T	8: 105,875,626	D23Y	probably benign	Het
Olfr801	G	A	10: 129,670,139	P127S	probably damaging	Het
Ovgp1	A	G	3: 105,980,273	Y300C	probably damaging	Het
Pgghg	A	G	7: 140,946,593	I633V	probably benign	Het
Pik3r3	C	T	4: 116,299,809	Q496*	probably null	Het
Pkn3	G	T	2: 30,080,687		probably null	Het
Plin2	A	T	4: 86,658,595	S298T	probably benign	Het
Prdm8	T	C	5: 98,183,343	V18A	possibly damaging	Het
Rel	C	A	11: 23,757,026	G59*	probably null	Het
Siglecg	A	G	7: 43,409,057	R123G	possibly damaging	Het
Slc13a1	T	A	6: 24,150,793	I49F	probably benign	Het
Slc39a10	T	A	1: 46,835,564	T193S	probably benign	Het
Slc9a3	T	A	13: 74,155,161	V191E	probably damaging	Het
Sult2b1	A	C	7: 45,742,246	S39A	probably benign	Het
Tead1	A	G	7: 112,861,443	T185A	probably benign	Het
Tmem67	A	G	4: 12,053,445		probably null	Het
Trim12c	A	T	7: 104,345,134		probably null	Het
Trpm6	T	A	19: 18,838,042	F1164Y	probably damaging	Het
Ube2d1	C	T	10: 71,262,241	D16N	probably benign	Het
Vmn2r24	A	T	6: 123,780,427	I85F	probably benign	Het
Vwde	T	A	6: 13,193,123	N406Y	possibly damaging	Het
Wdr54	A	T	6: 83,155,068		probably null	Het
Zfp451	C	A	1: 33,762,179	S1052I	possibly 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
R6364:Zcchc14	UTSW	8	121604859	unclassified	probably benign
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

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