Mutagenetix > Incidental Mutations

Incidental Mutation 'R1129:Zcchc14'

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96491

Institutional Source

Beutler Lab

Gene Symbol

Zcchc14

Ensembl Gene

ENSMUSG00000061410

Gene Name

zinc finger, CCHC domain containing 14

Synonyms

Bdg29

MMRRC Submission

039202-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1129 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121598703-121652901 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 121608415 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000046386
AA Change: V322A

SMART Domains

Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: V322A

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	G	C	2: 180,172,919		probably benign	Het
Bub1b	A	T	2: 118,615,006	D269V	probably damaging	Het
Ccdc73	A	G	2: 104,992,190	N828S	possibly damaging	Het
Cdk12	T	C	11: 98,245,375	S1152P	unknown	Het
Cnnm3	T	C	1: 36,513,016	L369P	probably damaging	Het
Cxadr	A	G	16: 78,336,433	K360R	probably benign	Het
Dlg2	G	A	7: 92,431,174		probably null	Het
Dst	T	C	1: 34,199,554	V3779A	probably benign	Het
Fbxo16	G	A	14: 65,295,532	R161K	probably benign	Het
Gm9726	T	A	12: 93,928,526		noncoding transcript	Het
Hectd4	A	G	5: 121,310,599	T337A	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Ints1	A	G	5: 139,758,471	L1510S	probably benign	Het
Kansl2	T	C	15: 98,533,581	Y63C	probably damaging	Het
Lats2	T	C	14: 57,700,333	E233G	possibly damaging	Het
Naca	T	C	10: 128,040,202		probably benign	Het
Pprc1	G	T	19: 46,063,806	A591S	probably benign	Het
Sbsn	C	T	7: 30,753,440	P627S	probably benign	Het
Sema6b	T	C	17: 56,124,347	E772G	probably benign	Het
Tmem33	A	G	5: 67,264,460		probably null	Het
Tmtc4	A	G	14: 122,943,153		probably null	Het
Ubqlnl	A	T	7: 104,149,650	H213Q	probably damaging	Het
Ugt1a10	T	C	1: 88,055,609	M43T	probably benign	Het
Vmn2r68	T	C	7: 85,237,504		probably null	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
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
R6562:Zcchc14	UTSW	8	121604103	missense	probably damaging	0.99
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'- GTGAAATTCTGGTCCCCTCTGACAC -3'
(R):5'- GCTTGGCATACCTCTAAGCTCCTG -3'

Sequencing Primer
(F):5'- GGTCCCCTCTGACACTAAGC -3'
(R):5'- TGGCATCCCATCCTCACAG -3'

Posted On

2014-01-05