Mutagenetix > Incidental Mutations

Incidental Mutation 'R6133:Zcchc2'

487217

Institutional Source

Beutler Lab

Gene Symbol

Zcchc2

Ensembl Gene

ENSMUSG00000038866

Gene Name

zinc finger, CCHC domain containing 2

Synonyms

9930114B20Rik

MMRRC Submission

044280-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R6133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105990406-106034074 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 106019879 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 117 (K117N)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118196] [ENSMUST00000119166] [ENSMUST00000131830]

Predicted Effect

probably damaging
Transcript: ENSMUST00000118196
AA Change: K501N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: K501N

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 damaging
Transcript: ENSMUST00000119166
AA Change: K501N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: K501N

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 benign
Transcript: ENSMUST00000131830

Predicted Effect

probably damaging
Transcript: ENSMUST00000186983
AA Change: K98N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000188954
AA Change: K117N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	A	G	8: 88,325,439	T912A	possibly damaging	Het
Akap12	G	T	10: 4,355,178	G663C	probably benign	Het
Akap2	C	T	4: 57,855,516	Q525*	probably null	Het
Ankhd1	T	C	18: 36,625,126	S958P	possibly damaging	Het
Cmtm2a	T	C	8: 104,292,730	I76V	probably benign	Het
Cpxm2	G	A	7: 132,128,453	P146S	probably damaging	Het
Cubn	A	G	2: 13,308,618	V3047A	probably benign	Het
Dgkd	T	A	1: 87,938,240	V198E	possibly damaging	Het
Dnah3	A	T	7: 120,086,246	M181K	probably benign	Het
Dnah7a	T	C	1: 53,419,655	T3775A	probably benign	Het
Dsg2	A	G	18: 20,590,089	I391V	probably benign	Het
Ebi3	T	A	17: 55,954,311	V69E	probably benign	Het
Fn1	T	C	1: 71,597,727	T1998A	probably damaging	Het
Frmpd1	T	A	4: 45,284,915	H1245Q	probably benign	Het
Gm7145	T	A	1: 117,985,888	C167S	probably damaging	Het
Hydin	C	T	8: 110,601,276	T4805I	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnma1	C	T	14: 24,003,868	M21I	probably damaging	Het
Lrfn5	A	G	12: 61,843,788	D621G	probably benign	Het
Lrrc15	C	T	16: 30,274,236	G95D	probably benign	Het
Mex3d	A	G	10: 80,386,786	L212P	probably damaging	Het
Mmel1	C	T	4: 154,895,018	H728Y	probably damaging	Het
Naip1	A	G	13: 100,444,643	V32A	probably benign	Het
Nsl1	T	C	1: 191,071,206	L158P	probably damaging	Het
Olfr638	A	T	7: 104,003,325	T17S	possibly damaging	Het
Olfr771	G	A	10: 129,160,883	L34F	possibly damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Pcdh15	A	T	10: 74,645,973		probably null	Het
Pramef20	T	C	4: 144,377,777	R53G	possibly damaging	Het
Ptpn1	T	C	2: 167,967,796	V108A	possibly damaging	Het
Rad9b	T	C	5: 122,339,768	N182D	possibly damaging	Het
Rp1l1	C	T	14: 64,030,096	P1044S	probably damaging	Het
Scn2a	G	A	2: 65,743,104	V1433I	probably benign	Het
Ssrp1	T	G	2: 85,045,339		probably benign	Het
Suco	T	A	1: 161,835,183	K560*	probably null	Het
Tbx3	T	C	5: 119,680,953	V531A	probably benign	Het
Tmem30c	T	C	16: 57,277,737	Y107C	probably damaging	Het
Topbp1	T	A	9: 103,311,764		probably null	Het
Trpm5	A	T	7: 143,088,951	D86E	probably damaging	Het
Urb2	C	T	8: 124,028,561	Q336*	probably null	Het
Vmn2r43	A	G	7: 8,244,971	F731S	probably damaging	Het
Xkr9	A	G	1: 13,684,135	T118A	probably benign	Het
Zfp52	T	C	17: 21,560,471	Y194H	probably damaging	Het
Zfp763	C	T	17: 33,018,701	C490Y	possibly damaging	Het
Zmynd19	G	T	2: 24,958,119	R148L	possibly damaging	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
R5526:Zcchc2	UTSW	1	106030254	nonsense	probably null
R5571:Zcchc2	UTSW	1	106023672	missense	probably benign
R5599:Zcchc2	UTSW	1	106032150	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

Predicted Primers

PCR Primer
(F):5'- AAGATTGGTGTGCACATTTGAG -3'
(R):5'- GGCTGCCACAAAAGAACTTC -3'

Sequencing Primer
(F):5'- GCCTGGACCATATAGTAGACCTTG -3'
(R):5'- GGAAACAGCACGCACGGC -3'

Posted On

2017-10-10