Mutagenetix > Incidental Mutation

Incidental Mutation 'R0336:Zc3h6'

34097

Institutional Source

Beutler Lab

Gene Symbol

Zc3h6

Ensembl Gene

ENSMUSG00000042851

Gene Name

zinc finger CCCH type containing 6

Synonyms

MMRRC Submission

038545-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R0336 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128967402-129018563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129015412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 617 (H617R)

Ref Sequence

ENSEMBL: ENSMUSP00000105949 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110320
AA Change: H617R

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: H617R

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

0.0907

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.1%
20x: 97.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,298,481	I2743V	probably benign	Het
Adamts16	A	G	13: 70,791,794		probably benign	Het
Adgrb1	A	G	15: 74,587,149	I427V	probably benign	Het
Apopt1	T	C	12: 111,733,658		probably benign	Het
Arhgef1	T	A	7: 24,921,957	F510I	possibly damaging	Het
B3glct	A	G	5: 149,746,592	D342G	probably damaging	Het
Bcl2a1c	G	T	9: 114,330,285	V44F	probably damaging	Het
Brca1	A	G	11: 101,523,993	V1105A	probably benign	Het
Cep135	A	G	5: 76,601,502	H272R	probably benign	Het
Cog1	A	C	11: 113,662,250	H365P	probably benign	Het
Col12a1	A	T	9: 79,702,345	L293Q	probably damaging	Het
Col18a1	A	G	10: 77,058,736	L1493P	probably damaging	Het
Ctsh	A	G	9: 90,075,738	Y290C	probably damaging	Het
Dach1	C	T	14: 98,168,748	G188R	probably damaging	Het
Defb39	G	T	8: 19,052,969	H37N	possibly damaging	Het
Epha3	A	G	16: 63,566,648	I875T	probably damaging	Het
Fbrsl1	A	G	5: 110,447,951	S73P	probably damaging	Het
Fga	T	C	3: 83,030,857	S180P	probably damaging	Het
Fndc1	C	T	17: 7,765,107	R1329Q	unknown	Het
Fyn	C	A	10: 39,526,901	T223K	possibly damaging	Het
Galnt6	A	T	15: 100,699,206	S360T	probably damaging	Het
Gm10436	T	C	12: 88,178,191	I122V	probably benign	Het
Grsf1	C	A	5: 88,663,153	V336F	probably damaging	Het
Hip1	A	T	5: 135,428,613	Y720N	probably benign	Het
Hivep3	G	A	4: 120,103,847	E1700K	probably damaging	Het
Ifna6	T	C	4: 88,827,941	S176P	probably damaging	Het
Lilr4b	T	A	10: 51,481,293	L75Q	probably benign	Het
Lrig3	C	T	10: 125,966,705	T77I	probably benign	Het
Mpped1	C	T	15: 83,836,282	P135L	probably damaging	Het
Mss51	T	A	14: 20,483,186	I406F	possibly damaging	Het
Mybpc2	T	C	7: 44,505,616	N956D	probably damaging	Het
Olfr1197	T	C	2: 88,729,154	I148M	possibly damaging	Het
Podxl2	G	A	6: 88,849,595	T243I	probably benign	Het
Polr2a	C	T	11: 69,736,893	R1396Q	possibly damaging	Het
Pygm	C	T	19: 6,388,758	R205W	probably damaging	Het
Rfx3	A	G	19: 27,806,262	M428T	probably benign	Het
Ric1	A	T	19: 29,587,793	T647S	probably damaging	Het
Rictor	G	A	15: 6,776,753		probably null	Het
Rnf38	A	T	4: 44,152,350		probably benign	Het
Slc6a21	T	A	7: 45,286,468	I41K	probably damaging	Het
St8sia4	T	A	1: 95,653,558	D153V	probably benign	Het
Stk33	T	C	7: 109,331,474	N226S	probably benign	Het
Strn3	A	G	12: 51,661,608		probably null	Het
Tlr6	G	T	5: 64,953,946	N539K	probably benign	Het
Tmem129	G	T	5: 33,655,602	P134Q	probably damaging	Het
Tmem94	A	G	11: 115,787,385	I145V	probably benign	Het
Trap1	A	C	16: 4,044,626	V596G	probably damaging	Het
Tspan2	A	G	3: 102,735,027	I11V	probably null	Het
Ttc23	A	T	7: 67,662,483	H46L	probably benign	Het
Txnip	T	A	3: 96,559,979	D292E	probably benign	Het
Vmn1r121	T	A	7: 21,098,462	I18F	possibly damaging	Het
Vmn1r61	G	A	7: 5,611,067	H83Y	probably benign	Het
Vmn1r82	T	C	7: 12,305,321	S174P	probably benign	Het
Vmn2r79	A	C	7: 87,002,079	T229P	probably benign	Het
Vps13b	T	G	15: 35,455,133	Y729*	probably null	Het
Wisp2	C	A	2: 163,832,322	A214D	probably damaging	Het
Xdh	C	T	17: 73,922,463	V332M	possibly damaging	Het
Xkr5	C	A	8: 18,940,636	R205L	possibly damaging	Het
Zc3h4	T	C	7: 16,435,178	S1071P	unknown	Het
Zfp597	A	G	16: 3,866,379	V171A	probably benign	Het
Zfp709	T	C	8: 71,890,605	F626S	probably damaging	Het
Zfp944	C	A	17: 22,339,028	D413Y	probably damaging	Het
Zfp979	A	C	4: 147,613,135	S372R	possibly damaging	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
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
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'- CAACCACCTGATAACTCTGCTGGTAAG -3'
(R):5'- TGGTATCTCTGAGTCAACGGGATGAAA -3'

Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- GTCAACGGGATGAAAAGAGC -3'

Posted On

2013-05-09