Mutagenetix > Incidental Mutation

Incidental Mutation 'R2133:Zc3h6'

233496

Institutional Source

Beutler Lab

Gene Symbol

Zc3h6

Ensembl Gene

ENSMUSG00000042851

Gene Name

zinc finger CCCH type containing 6

Synonyms

MMRRC Submission

040136-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R2133 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128967402-129018563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128967830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 9 (H9R)

Ref Sequence

ENSEMBL: ENSMUSP00000105949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099385] [ENSMUST00000110319] [ENSMUST00000110320]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099385

SMART Domains

Protein: ENSMUSP00000096983
Gene: ENSMUSG00000074807

Domain	Start	End	E-Value	Type
low complexity region	31	41	N/A	INTRINSIC
low complexity region	64	69	N/A	INTRINSIC
low complexity region	93	105	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110319
AA Change: H9R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105948
Gene: ENSMUSG00000042851
AA Change: H9R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110320
AA Change: H9R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: H9R

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,090,452	K86E	possibly damaging	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
Abcb11	A	T	2: 69,323,883	V113E	possibly damaging	Het
Acacb	TGGGG	TGGG	5: 114,209,767		probably null	Het
Adgrb1	T	A	15: 74,529,908	L251Q	probably damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Apc	C	A	18: 34,312,045	Q665K	possibly damaging	Het
Atp13a2	T	A	4: 141,005,016	M864K	probably damaging	Het
Atp6v1c2	T	C	12: 17,321,611	T62A	probably benign	Het
Atp7b	T	C	8: 22,011,077	T937A	probably damaging	Het
BC034090	C	T	1: 155,225,786	G244D	probably benign	Het
C2	G	A	17: 34,879,902	T146M	probably damaging	Het
Cacna1h	A	G	17: 25,383,528	F1403L	probably damaging	Het
Camk2b	T	C	11: 5,977,880	E390G	probably benign	Het
Cars	C	A	7: 143,592,474	R71M	probably damaging	Het
Ccdc141	G	A	2: 77,059,607	T447I	probably benign	Het
Cep164	T	C	9: 45,803,183	E182G	probably damaging	Het
Clstn3	T	C	6: 124,449,503	T575A	probably benign	Het
Cntnap2	T	C	6: 47,298,445	L1277P	probably damaging	Het
Cyp4a14	A	T	4: 115,491,391	S325R	probably damaging	Het
Dbt	T	A	3: 116,539,124	D16E	probably damaging	Het
Ddx10	T	A	9: 53,149,512	R768S	probably benign	Het
Dis3	A	T	14: 99,079,877	N710K	probably benign	Het
Dmrta1	A	T	4: 89,688,709	Q134L	probably damaging	Het
Eif3i	A	T	4: 129,596,926	H18Q	probably benign	Het
Emx2	A	G	19: 59,464,033	T250A	probably damaging	Het
Epb41l4a	T	C	18: 33,874,195	T248A	probably damaging	Het
Epm2a	A	G	10: 11,343,682	E71G	probably benign	Het
Eps15l1	A	T	8: 72,386,868	V260D	probably benign	Het
Etv4	A	G	11: 101,775,417	I95T	probably damaging	Het
Etv6	T	C	6: 134,248,754	V316A	possibly damaging	Het
Exoc4	T	C	6: 33,758,158	V570A	probably benign	Het
Exoc4	T	C	6: 33,910,538	S754P	probably benign	Het
Faf1	A	G	4: 109,710,845	N34S	probably damaging	Het
Fam208a	A	G	14: 27,476,614	N1301S	possibly damaging	Het
Fam217a	T	C	13: 34,913,680	H208R	probably damaging	Het
Fgf17	T	C	14: 70,638,487	R102G	probably damaging	Het
Fhad1	G	A	4: 141,928,400	R798C	probably damaging	Het
Fkbp15	C	A	4: 62,327,899	G431W	probably damaging	Het
Gatsl2	G	A	5: 134,136,153	C187Y	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gm1587	A	T	14: 77,794,856	C113*	probably null	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,327,321		probably benign	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Gpr132	A	G	12: 112,852,403	S268P	probably damaging	Het
Gtpbp2	T	C	17: 46,161,202	M21T	probably benign	Het
Guca2b	T	C	4: 119,657,631	R78G	probably benign	Het
Helz	T	A	11: 107,670,484	N775K	unknown	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	TCC	TCCACC	1: 135,386,275		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Irak3	A	G	10: 120,165,177	I281T	probably benign	Het
Kcnh8	T	C	17: 52,893,933	V465A	probably damaging	Het
Khsrp	A	T	17: 57,027,832	I138N	probably benign	Het
Larp1b	T	C	3: 40,970,535	M149T	possibly damaging	Het
Ldhc	A	T	7: 46,869,599	D82V	probably damaging	Het
Lgmn	T	C	12: 102,394,908	Y400C	probably damaging	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Lpo	T	A	11: 87,821,130	I34F	probably benign	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mamld1	C	A	X: 71,119,392	Q670K	probably benign	Het
Mcrs1	A	T	15: 99,243,375	D402E	probably damaging	Het
Mki67	T	A	7: 135,704,241		probably null	Het
Morc2a	T	A	11: 3,680,302	C499*	probably null	Het
Mpp2	G	A	11: 102,064,595	R110C	probably benign	Het
Msra	T	A	14: 64,233,928	T47S	probably damaging	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Ogdhl	T	C	14: 32,325,934	V47A	probably benign	Het
Olfml3	T	A	3: 103,735,869	M399L	probably benign	Het
Olfr1245	G	A	2: 89,575,256	Q157*	probably null	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr453	C	A	6: 42,744,135	L33M	possibly damaging	Het
Optc	A	T	1: 133,903,796		probably null	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Pard6g	T	C	18: 80,117,308	V212A	probably damaging	Het
Pcdhb14	C	A	18: 37,447,870	Q10K	probably benign	Het
Pkhd1l1	T	C	15: 44,516,185	I1069T	possibly damaging	Het
Plcb1	T	A	2: 135,325,667	Y460*	probably null	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Ptprg	T	A	14: 12,211,637	I198N	probably damaging	Het
Rbm12	A	T	2: 156,095,510	C947*	probably null	Het
Rc3h2	A	T	2: 37,378,916	I846K	probably benign	Het
Ren1	C	A	1: 133,358,982		probably null	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Rnf157	A	G	11: 116,358,694	V232A	possibly damaging	Het
Ror1	A	G	4: 100,410,025	N308D	probably benign	Het
Rrp1	T	C	10: 78,401,894		probably benign	Het
Rsph6a	T	A	7: 19,068,106	V360E	probably damaging	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Slc41a3	C	T	6: 90,626,381	A128V	probably damaging	Het
Slc7a9	T	C	7: 35,453,493	F112S	probably damaging	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Sort1	T	A	3: 108,351,686	F678Y	probably benign	Het
Spidr	G	A	16: 16,053,273	L278F	probably benign	Het
Stard13	T	C	5: 151,045,168	Y879C	probably damaging	Het
Synpo	T	C	18: 60,602,895	N421D	probably damaging	Het
Syt17	C	T	7: 118,382,047	G351S	possibly damaging	Het
Tacc1	A	T	8: 25,164,493	N271K	probably damaging	Het
Tdrd6	T	C	17: 43,624,833	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tmem132a	C	A	19: 10,864,066	R298L	probably benign	Het
Trabd2b	A	T	4: 114,610,008	Q478L	probably benign	Het
Trappc12	A	T	12: 28,746,598	S312T	probably benign	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttc9b	T	A	7: 27,654,349		probably null	Het
Ttn	G	A	2: 76,850,612	Q1044*	probably null	Het
Ugt2b34	C	T	5: 86,906,557	D122N	probably benign	Het
Zdhhc13	T	A	7: 48,824,644	L548Q	possibly damaging	Het
Zfp236	T	C	18: 82,621,304	M1225V	probably benign	Het
Zfp280d	T	C	9: 72,308,005	F133L	probably damaging	Het
Zfp521	G	A	18: 13,844,705	P884S	possibly damaging	Het
Zfp64	A	G	2: 168,940,743	Y146H	probably damaging	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly damaging	Het
Zswim6	T	A	13: 107,743,987		noncoding transcript	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
R0420:Zc3h6	UTSW	2	129014827	missense	probably benign	0.00
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
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'- CGCTCACTAGTAACCGTGAG -3'
(R):5'- CTACTACTGAGCTTTTGGGGC -3'

Sequencing Primer
(F):5'- CACTAGTAACCGTGAGTTTTTACCAC -3'
(R):5'- CTTTTGGGGCCGGTTCCAAC -3'

Posted On

2014-10-01