Mutagenetix > Incidental Mutations

Incidental Mutation 'R5599:Zcchc2'

438929

Institutional Source

Beutler Lab

Gene Symbol

Zcchc2

Ensembl Gene

ENSMUSG00000038866

Gene Name

zinc finger, CCHC domain containing 2

Synonyms

9930114B20Rik

MMRRC Submission

043151-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R5599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105990406-106034074 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106032150 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1163 (D1163G)

Ref Sequence

ENSEMBL: ENSMUSP00000113974 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118196
AA Change: D1163G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: D1163G

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: ENSMUST00000119166

SMART Domains

Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866

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: ENSMUST00000186983

Predicted Effect

probably benign
Transcript: ENSMUST00000188954

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	C	1: 37,613,343	N1128D	possibly damaging	Het
Abhd2	T	A	7: 79,296,998		probably null	Het
Agpat3	T	C	10: 78,274,269	D282G	probably benign	Het
Ankhd1	G	A	18: 36,560,807	A24T	probably damaging	Het
Cry1	A	T	10: 85,144,250	M398K	probably benign	Het
Dpp10	A	G	1: 123,905,076	I47T	probably damaging	Het
Fam208a	A	G	14: 27,479,929	N1427D	probably benign	Het
Fpr-rs6	C	T	17: 20,182,113	D329N	probably benign	Het
Gfm2	G	A	13: 97,163,151	A406T	probably damaging	Het
Gm20767	A	C	13: 120,154,922	Q99P	probably damaging	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Gxylt1	CTCATCCGGGTCAT	CTCAT	15: 93,254,317		probably benign	Het
Hnrnpul1	G	A	7: 25,754,672		probably benign	Het
Lbx1	T	A	19: 45,235,080	S50C	probably damaging	Het
Lims2	A	G	18: 31,957,271	N183S	probably benign	Het
Lrp1	T	C	10: 127,593,869	N444S	probably damaging	Het
Mast4	A	T	13: 102,737,479	C1626S	probably damaging	Het
Mgat5	A	G	1: 127,397,566	Y390C	probably damaging	Het
Nf2	T	C	11: 4,782,269	E553G	probably damaging	Het
Nfatc4	A	T	14: 55,832,276	T704S	probably benign	Het
Olfr1160	T	G	2: 88,006,005	I258L	probably benign	Het
Olfr140	A	G	2: 90,052,219	V35A	probably benign	Het
Olfr679	T	C	7: 105,086,550		probably null	Het
Olfr847	T	G	9: 19,375,629	N84T	possibly damaging	Het
Plekha7	T	A	7: 116,176,882		probably null	Het
Polr1a	T	C	6: 71,967,362	M1271T	possibly damaging	Het
Ppip5k2	A	G	1: 97,740,598	M595T	probably damaging	Het
Ppox	A	T	1: 171,277,460	V412D	probably damaging	Het
Ppp1r12b	A	G	1: 134,865,907	V573A	probably benign	Het
Prkcb	T	C	7: 122,582,478	Y430H	probably benign	Het
Psmd6	A	C	14: 14,120,144	M65R	probably benign	Het
Rbm12	G	A	2: 156,096,793	R520*	probably null	Het
Rin3	T	C	12: 102,389,929	F830L	probably damaging	Het
Sema4b	A	G	7: 80,213,291	K104R	probably benign	Het
Slitrk1	T	C	14: 108,911,812	D489G	probably benign	Het
Spef2	T	C	15: 9,729,703	T110A	possibly damaging	Het
Sult2a6	T	A	7: 14,254,704	K44*	probably null	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tnxb	G	T	17: 34,690,202	G1445V	probably damaging	Het
Tnxb	T	C	17: 34,690,205	V1569A	probably benign	Het
Zfp365	C	T	10: 67,909,367	E194K	probably 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	splice site	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
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
R7982:Zcchc2	UTSW	1	106031171	missense	probably damaging	1.00
R8316:Zcchc2	UTSW	1	106032114	missense	probably damaging	1.00
R8351:Zcchc2	UTSW	1	106030932	missense	probably damaging	0.98
R8451:Zcchc2	UTSW	1	106030932	missense	probably damaging	0.98
RF022:Zcchc2	UTSW	1	106011742	missense	possibly damaging	0.85
Z1176:Zcchc2	UTSW	1	105991126	missense	probably damaging	1.00
Z1177:Zcchc2	UTSW	1	106004136	missense	possibly damaging	0.74
Z1177:Zcchc2	UTSW	1	106029825	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTAGTGCTGAGGAAAGGCC -3'
(R):5'- TGTCATACATGTAAGCCGGCTG -3'

Sequencing Primer
(F):5'- AGGCCTTTGAAAGCATGCTC -3'
(R):5'- CAGGAGCATCACATTCTTTCATATTC -3'

Posted On

2016-10-26