Mutagenetix > Incidental Mutations

Incidental Mutation 'R5526:Zcchc2'

431834

Institutional Source

Beutler Lab

Gene Symbol

Zcchc2

Ensembl Gene

ENSMUSG00000038866

Gene Name

zinc finger, CCHC domain containing 2

Synonyms

9930114B20Rik

MMRRC Submission

043084-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R5526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105990406-106034074 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 106030254 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 420 (C420*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118196] [ENSMUST00000119166]

Predicted Effect

probably null
Transcript: ENSMUST00000118196
AA Change: C818*

SMART Domains

Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: C818*

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
low complexity region	34	67	N/A	INTRINSIC
low complexity region	69	87	N/A	INTRINSIC
low complexity region	234	247	N/A	INTRINSIC
SCOP:d1gd5a_	347	451	5e-7	SMART
low complexity region	480	491	N/A	INTRINSIC
low complexity region	567	581	N/A	INTRINSIC
low complexity region	624	634	N/A	INTRINSIC
low complexity region	640	659	N/A	INTRINSIC
low complexity region	777	795	N/A	INTRINSIC
low complexity region	899	918	N/A	INTRINSIC
low complexity region	998	1010	N/A	INTRINSIC
low complexity region	1020	1031	N/A	INTRINSIC
ZnF_C2HC	1120	1136	1.12e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000119166
AA Change: C818*

SMART Domains

Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: C818*

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
low complexity region	34	67	N/A	INTRINSIC
low complexity region	69	87	N/A	INTRINSIC
low complexity region	234	247	N/A	INTRINSIC
SCOP:d1gd5a_	347	451	5e-7	SMART
low complexity region	480	491	N/A	INTRINSIC
low complexity region	567	581	N/A	INTRINSIC
low complexity region	624	634	N/A	INTRINSIC
low complexity region	640	659	N/A	INTRINSIC
low complexity region	777	795	N/A	INTRINSIC
low complexity region	899	918	N/A	INTRINSIC
low complexity region	998	1010	N/A	INTRINSIC
low complexity region	1020	1031	N/A	INTRINSIC
ZnF_C2HC	1120	1136	1.12e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000186983
AA Change: C420*

Predicted Effect

probably benign
Transcript: ENSMUST00000188954

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,972,125	V486A	possibly damaging	Het
Abca12	A	T	1: 71,292,446	M1315K	probably benign	Het
Abcc4	C	T	14: 118,631,037	V168I	probably benign	Het
Add3	T	A	19: 53,226,607	L71Q	probably damaging	Het
Agbl5	G	A	5: 30,893,903		probably null	Het
Angpt1	A	G	15: 42,512,341	L173P	probably damaging	Het
BC067074	T	C	13: 113,367,893	V1852A	probably benign	Het
Crls1	T	A	2: 132,861,245	M205K	possibly damaging	Het
Dhtkd1	A	T	2: 5,911,851	N671K	probably damaging	Het
Dmbt1	A	T	7: 131,041,190	D246V	probably damaging	Het
Dolk	G	A	2: 30,285,808	A75V	probably damaging	Het
Dtna	T	A	18: 23,646,230	V623E	probably damaging	Het
Elavl3	T	C	9: 22,036,326	T106A	probably benign	Het
Ergic1	T	C	17: 26,624,678	C41R	probably damaging	Het
Fat2	T	A	11: 55,269,361	I3309F	possibly damaging	Het
Fbn1	C	A	2: 125,365,639	R978L	possibly damaging	Het
Fzd6	A	T	15: 39,031,164	S242C	possibly damaging	Het
Galntl6	T	A	8: 58,472,970	H87L	probably benign	Het
Gatad2a	T	C	8: 69,935,941	E32G	probably damaging	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
Gm11541	G	T	11: 94,704,118	H41Q	unknown	Het
Has3	A	G	8: 106,873,947	T14A	probably damaging	Het
Kmt2b	A	G	7: 30,580,444	L1377P	probably damaging	Het
Lcorl	T	C	5: 45,733,727	N428S	probably benign	Het
Lipo5	A	T	19: 33,467,884	V95D	unknown	Het
Lrp1	A	T	10: 127,555,724	V2942D	probably benign	Het
Map1a	T	C	2: 121,305,662	S2082P	probably damaging	Het
Mast4	T	C	13: 102,754,215	S852G	possibly damaging	Het
Mlh3	A	T	12: 85,269,373	L13*	probably null	Het
Ncam2	C	T	16: 81,434,878	R77*	probably null	Het
Nlrp9c	T	A	7: 26,382,366	N645I	possibly damaging	Het
Olfr109	T	A	17: 37,467,112	L302Q	unknown	Het
Olfr1126	T	C	2: 87,457,765	I200T	probably benign	Het
Olfr128	T	A	17: 37,924,492	*309K	probably null	Het
Olfr857	C	A	9: 19,713,698	Y290*	probably null	Het
Olfr965	A	T	9: 39,719,596	Y123F	possibly damaging	Het
Pex12	A	G	11: 83,296,264	V286A	possibly damaging	Het
Phax	C	T	18: 56,584,310	T275I	probably damaging	Het
Phf21b	A	G	15: 84,791,805	V335A	probably benign	Het
Psg18	A	T	7: 18,349,348	L173H	probably damaging	Het
Rab3ip	T	C	10: 116,918,929	T209A	possibly damaging	Het
Ralgapb	T	C	2: 158,432,785	V202A	probably damaging	Het
Rpn2	T	C	2: 157,323,267	L611P	probably damaging	Het
Runx2	T	G	17: 44,724,862	T148P	probably damaging	Het
Sbpl	C	A	17: 23,954,649	D50Y	probably damaging	Het
Scn5a	G	A	9: 119,521,171	P879L	probably damaging	Het
Sfn	T	C	4: 133,601,604	R56G	probably damaging	Het
Tas2r138	C	T	6: 40,612,980	A111T	probably benign	Het
Tasp1	A	T	2: 140,008,789	S105T	probably damaging	Het
Tmem225	T	G	9: 40,150,706	H205Q	possibly damaging	Het
Tmprss7	A	G	16: 45,660,904	S640P	probably damaging	Het
Utp4	G	A	8: 106,917,633	A535T	possibly damaging	Het
Vmn1r203	A	T	13: 22,524,103	D18V	probably benign	Het
Vmn2r58	A	G	7: 41,872,645	L9P	probably benign	Het
Zfp804a	A	G	2: 82,258,590	D921G	probably benign	Het

Other mutations in Zcchc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Zcchc2	APN	1	106030263	missense	probably benign	0.25
IGL01339:Zcchc2	APN	1	106029775	missense	probably damaging	1.00
IGL01981:Zcchc2	APN	1	106027499	missense	probably damaging	1.00
IGL02172:Zcchc2	APN	1	106000934	missense	probably benign	0.00
IGL02864:Zcchc2	APN	1	106016084	missense	probably damaging	1.00
IGL02993:Zcchc2	APN	1	106030168	missense	probably damaging	0.99
IGL03163:Zcchc2	APN	1	106031111	missense	probably damaging	1.00
P0042:Zcchc2	UTSW	1	106030997	missense	possibly damaging	0.95
R0200:Zcchc2	UTSW	1	106004123	missense	probably damaging	1.00
R0477:Zcchc2	UTSW	1	106030270	missense	possibly damaging	0.91
R0501:Zcchc2	UTSW	1	106016091	missense	possibly damaging	0.88
R0689:Zcchc2	UTSW	1	106030504	nonsense	probably null
R1799:Zcchc2	UTSW	1	106030287	missense	probably benign	0.00
R2016:Zcchc2	UTSW	1	106004121	unclassified	probably null
R2153:Zcchc2	UTSW	1	106021723	splice site	probably null
R2175:Zcchc2	UTSW	1	106027423	missense	probably damaging	1.00
R2999:Zcchc2	UTSW	1	106030024	missense	probably benign	0.00
R3113:Zcchc2	UTSW	1	105991022	missense	unknown
R4571:Zcchc2	UTSW	1	106031257	missense	possibly damaging	0.66
R4670:Zcchc2	UTSW	1	105990266	unclassified	probably benign
R5067:Zcchc2	UTSW	1	106030964	missense	probably damaging	1.00
R5423:Zcchc2	UTSW	1	106030700	missense	probably damaging	1.00
R5499:Zcchc2	UTSW	1	106030592	missense	possibly damaging	0.71
R5522:Zcchc2	UTSW	1	106023696	missense	probably benign	0.00
R5571:Zcchc2	UTSW	1	106023672	missense	probably benign
R5599:Zcchc2	UTSW	1	106032150	missense	probably damaging	1.00
R6133:Zcchc2	UTSW	1	106019879	missense	probably damaging	1.00
R6191:Zcchc2	UTSW	1	105990170	unclassified	probably benign
R6194:Zcchc2	UTSW	1	105991117	missense	probably damaging	1.00
R6246:Zcchc2	UTSW	1	106030066	missense	possibly damaging	0.75
R7089:Zcchc2	UTSW	1	106030481	missense	probably damaging	1.00
R7626:Zcchc2	UTSW	1	106001012	missense	possibly damaging	0.69
R7749:Zcchc2	UTSW	1	106018273	missense	probably damaging	1.00
R7781:Zcchc2	UTSW	1	106004165	missense	probably damaging	1.00
R7792:Zcchc2	UTSW	1	106018252	missense	probably damaging	0.99
RF022:Zcchc2	UTSW	1	106011742	missense	possibly damaging	0.85
Z1176:Zcchc2	UTSW	1	105991126	missense	not run
Z1177:Zcchc2	UTSW	1	106004136	missense	not run
Z1177:Zcchc2	UTSW	1	106029825	missense	not run

Predicted Primers

PCR Primer
(F):5'- AATTCAGCCCCTGTTGGAATCC -3'
(R):5'- ACCTTCACATTGCTCGGCTG -3'

Sequencing Primer
(F):5'- TGTTGGAATCCTAGGCCCG -3'
(R):5'- ACATTGCTCGGCTGAGGGAC -3'

Posted On

2016-10-05