Mutagenetix > Incidental Mutation

Incidental Mutation 'R0420:Zc3h6'

36962

Institutional Source

Beutler Lab

Gene Symbol

Zc3h6

Ensembl Gene

ENSMUSG00000042851

Gene Name

zinc finger CCCH type containing 6

Synonyms

MMRRC Submission

038622-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R0420 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

128967402-129018563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129014827 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 609 (D609G)

Ref Sequence

ENSEMBL: ENSMUSP00000105949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110320]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110320
AA Change: D609G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: D609G

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
coiled coil region	30	71	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
ZnF_C3H1	271	296	1.72e-4	SMART
ZnF_C3H1	300	325	2.51e-6	SMART
ZnF_C3H1	326	349	5.24e0	SMART
coiled coil region	351	383	N/A	INTRINSIC
low complexity region	385	400	N/A	INTRINSIC
low complexity region	493	509	N/A	INTRINSIC
low complexity region	698	707	N/A	INTRINSIC
low complexity region	784	798	N/A	INTRINSIC
low complexity region	815	829	N/A	INTRINSIC
low complexity region	876	890	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135186

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415O20Rik	A	G	15: 98,571,094	S17G	probably benign	Het
Abcb4	T	C	5: 8,941,050	V870A	probably benign	Het
Adam6b	A	T	12: 113,489,994	M144L	probably benign	Het
Adrb2	T	A	18: 62,179,539	I72L	possibly damaging	Het
Ankrd53	A	T	6: 83,763,692	H99L	probably damaging	Het
Ap4e1	C	T	2: 127,049,360	T17M	probably damaging	Het
Arnt	T	A	3: 95,470,394		probably benign	Het
Atp1a3	C	T	7: 24,980,627	G884E	probably benign	Het
Atp6v1b1	T	C	6: 83,752,844		probably benign	Het
Atp8a2	G	T	14: 59,773,744	T971K	probably damaging	Het
BC048562	A	T	9: 108,445,966	T167S	probably benign	Het
Brd9	A	G	13: 73,955,473	M491V	probably benign	Het
Btnl10	A	T	11: 58,923,451	D319V	probably damaging	Het
Cadps	T	A	14: 12,491,800	R783S	probably damaging	Het
Ccdc149	A	G	5: 52,400,239		probably benign	Het
Ccm2l	A	T	2: 153,070,862	D107V	probably null	Het
Cep192	A	G	18: 67,813,893	E213G	possibly damaging	Het
Cyp2c37	A	C	19: 39,995,794	N242T	probably benign	Het
Dnah17	A	G	11: 118,039,939	V3750A	probably damaging	Het
Ehbp1	T	A	11: 22,151,836	I231L	probably benign	Het
Emilin3	A	G	2: 160,910,879		probably benign	Het
Eya4	T	C	10: 23,155,963	N254S	possibly damaging	Het
Fam184b	A	G	5: 45,584,512	S126P	probably damaging	Het
Fancd2	T	C	6: 113,536,979	L108P	probably damaging	Het
Fgf12	A	T	16: 28,162,529	M145K	possibly damaging	Het
Gabbr1	A	G	17: 37,046,762	N23S	possibly damaging	Het
Ggt1	T	A	10: 75,576,213		probably benign	Het
Gm1966	T	A	7: 106,603,883	L51F	probably damaging	Het
Gm6434	T	A	7: 25,882,361		noncoding transcript	Het
Gm6614	T	G	6: 141,985,477		probably benign	Het
Grik4	A	T	9: 42,622,096	L376*	probably null	Het
Gzf1	A	G	2: 148,683,833	T75A	probably benign	Het
Hcn1	T	C	13: 117,975,375	I625T	unknown	Het
Hhat	C	T	1: 192,552,934		probably null	Het
Ifit1bl1	T	C	19: 34,594,514	E181G	probably damaging	Het
Kif21a	T	C	15: 90,968,054		probably benign	Het
Lrrc45	A	C	11: 120,715,219	S118R	probably damaging	Het
Mcm9	T	C	10: 53,548,527	I656V	probably benign	Het
Ms4a5	A	G	19: 11,283,654	L47S	probably damaging	Het
Mynn	A	T	3: 30,607,459	N230I	probably benign	Het
Nck2	T	C	1: 43,554,118	S162P	probably damaging	Het
Nfat5	T	C	8: 107,367,461	F259S	probably damaging	Het
Obox1	T	G	7: 15,556,253	S174A	possibly damaging	Het
Ociad1	T	A	5: 73,313,429		probably null	Het
Pgbd1	A	T	13: 21,423,166	V286E	possibly damaging	Het
Phlpp2	T	C	8: 109,939,935	V1032A	probably damaging	Het
Ppm1e	C	T	11: 87,240,614	A318T	probably damaging	Het
Prex1	T	A	2: 166,589,571	D757V	probably benign	Het
Ptpdc1	C	A	13: 48,589,119		probably null	Het
Rbbp5	T	G	1: 132,493,844	I94R	possibly damaging	Het
Rnpc3	A	G	3: 113,621,869	V173A	probably benign	Het
Sgsm1	A	T	5: 113,263,759	N700K	probably benign	Het
Sox14	T	A	9: 99,875,122	H188L	probably damaging	Het
Supt5	T	A	7: 28,317,329		probably benign	Het
Synpo	A	G	18: 60,602,418	S819P	probably damaging	Het
Tenm2	A	G	11: 36,207,124		probably benign	Het
Tenm4	T	C	7: 96,873,766	V1468A	possibly damaging	Het
Tiam2	A	G	17: 3,502,918	N83S	probably benign	Het
Tle6	T	C	10: 81,595,311		probably benign	Het
Tm2d2	T	G	8: 25,018,114	N91K	probably damaging	Het
Tmem132d	T	G	5: 127,864,646	Q463H	probably benign	Het
Tmf1	A	G	6: 97,176,141	S324P	probably damaging	Het
Tnc	T	C	4: 64,000,159	T1172A	probably benign	Het
Usp17lb	A	T	7: 104,840,539	C393S	probably benign	Het
Usp42	G	A	5: 143,714,861	L1136F	probably damaging	Het
Vmn2r92	T	G	17: 18,168,921	M499R	probably benign	Het
Vps54	T	A	11: 21,311,071		probably benign	Het
Wdr6	C	T	9: 108,573,101	R1076H	probably benign	Het
Wdr72	T	A	9: 74,210,757	M917K	possibly damaging	Het
Wee2	T	C	6: 40,456,995	V281A	probably benign	Het
Zfp345	G	A	2: 150,473,243	H125Y	possibly damaging	Het
Zhx2	A	G	15: 57,821,840	K202E	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,476,364		probably benign	Het

Other mutations in Zc3h6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01732:Zc3h6	APN	2	129011875	missense	probably damaging	1.00
IGL01880:Zc3h6	APN	2	129017378	missense	probably damaging	0.99
IGL02160:Zc3h6	APN	2	128997685	missense	probably benign	0.02
IGL02161:Zc3h6	APN	2	128993226	missense	possibly damaging	0.90
IGL02202:Zc3h6	APN	2	129016581	missense	probably damaging	1.00
IGL02547:Zc3h6	APN	2	129015611	missense	probably benign	0.00
IGL02973:Zc3h6	APN	2	128997795	missense	probably damaging	0.98
BB001:Zc3h6	UTSW	2	129015480	missense	possibly damaging	0.52
BB011:Zc3h6	UTSW	2	129015480	missense	possibly damaging	0.52
R0336:Zc3h6	UTSW	2	129015412	missense	possibly damaging	0.81
R0538:Zc3h6	UTSW	2	129017223	missense	possibly damaging	0.75
R0944:Zc3h6	UTSW	2	129006816	missense	probably damaging	1.00
R1151:Zc3h6	UTSW	2	129017136	missense	probably benign	0.00
R1528:Zc3h6	UTSW	2	129017069	missense	probably benign	0.01
R1698:Zc3h6	UTSW	2	129017358	missense	probably benign
R1712:Zc3h6	UTSW	2	129016734	missense	probably damaging	1.00
R1913:Zc3h6	UTSW	2	129016620	missense	probably damaging	1.00
R1926:Zc3h6	UTSW	2	128997795	missense	probably damaging	0.98
R2030:Zc3h6	UTSW	2	129006086	missense	probably damaging	1.00
R2051:Zc3h6	UTSW	2	129015618	missense	possibly damaging	0.55
R2133:Zc3h6	UTSW	2	128967830	missense	possibly damaging	0.53
R2273:Zc3h6	UTSW	2	129014709	missense	probably benign	0.01
R2328:Zc3h6	UTSW	2	128993202	missense	possibly damaging	0.85
R2862:Zc3h6	UTSW	2	129015460	missense	probably benign	0.43
R2899:Zc3h6	UTSW	2	129002232	missense	probably benign	0.00
R3711:Zc3h6	UTSW	2	129017331	missense	probably benign	0.00
R3743:Zc3h6	UTSW	2	128997792	missense	probably damaging	1.00
R3893:Zc3h6	UTSW	2	129016140	missense	probably damaging	1.00
R4748:Zc3h6	UTSW	2	129002240	missense	probably damaging	1.00
R5025:Zc3h6	UTSW	2	129010433	missense	possibly damaging	0.87
R5026:Zc3h6	UTSW	2	129017309	missense	probably benign	0.00
R5125:Zc3h6	UTSW	2	129014479	missense	possibly damaging	0.93
R5373:Zc3h6	UTSW	2	129002156	missense	possibly damaging	0.75
R5374:Zc3h6	UTSW	2	129002156	missense	possibly damaging	0.75
R5703:Zc3h6	UTSW	2	128993452	intron	probably benign
R5802:Zc3h6	UTSW	2	129015559	missense	possibly damaging	0.56
R5876:Zc3h6	UTSW	2	128993277	missense	probably benign	0.29
R5879:Zc3h6	UTSW	2	128997776	splice site	probably null
R5950:Zc3h6	UTSW	2	128997790	nonsense	probably null
R6031:Zc3h6	UTSW	2	128967812	missense	possibly damaging	0.85
R6031:Zc3h6	UTSW	2	128967812	missense	possibly damaging	0.85
R6781:Zc3h6	UTSW	2	129015421	missense	probably damaging	0.99
R7323:Zc3h6	UTSW	2	128993411	missense	unknown
R7340:Zc3h6	UTSW	2	128993190	missense	possibly damaging	0.90
R7572:Zc3h6	UTSW	2	129017252	missense	probably benign	0.02
R7576:Zc3h6	UTSW	2	129014553	missense	probably damaging	1.00
R7797:Zc3h6	UTSW	2	129015635	critical splice donor site	probably null
R7924:Zc3h6	UTSW	2	129015480	missense	possibly damaging	0.52
R8048:Zc3h6	UTSW	2	129017014	missense	probably benign	0.30
R8877:Zc3h6	UTSW	2	129014399	nonsense	probably null
R9076:Zc3h6	UTSW	2	129017176	nonsense	probably null
R9577:Zc3h6	UTSW	2	129016182	missense
R9687:Zc3h6	UTSW	2	129017361	missense	probably damaging	1.00
R9745:Zc3h6	UTSW	2	129017235	missense	probably benign	0.08
Z1176:Zc3h6	UTSW	2	129016221	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAGAGTCACAGCTCTCCAGCTTC -3'
(R):5'- ACCAAAGTGTAAGGGTCAGAATCGC -3'

Sequencing Primer
(F):5'- GCTTCACTGTACCAGCAAATG -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2013-05-09