Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02973:Zc3h6'

365897

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zc3h6

Ensembl Gene

ENSMUSG00000042851

Gene Name

zinc finger CCCH type containing 6

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

IGL02973

Quality Score

Status

Chromosome

Chromosomal Location

128967402-129018563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128997795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 176 (R176Q)

Ref Sequence

ENSEMBL: ENSMUSP00000105949 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110319

SMART Domains

Protein: ENSMUSP00000105948
Gene: ENSMUSG00000042851

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

probably damaging
Transcript: ENSMUST00000110320
AA Change: R176Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: R176Q

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	A	G	2: 163,731,133	L193P	probably benign	Het
Ago2	A	T	15: 73,123,465		probably benign	Het
Ankrd26	A	G	6: 118,523,550	S987P	probably damaging	Het
Ap2a2	T	C	7: 141,631,364	F938L	possibly damaging	Het
Arhgap35	A	G	7: 16,562,878	V754A	possibly damaging	Het
Atp10b	A	T	11: 43,197,509	N314I	probably damaging	Het
Atp5a1	T	C	18: 77,780,149	V291A	probably damaging	Het
Ccm2	C	A	11: 6,584,544	P19T	probably damaging	Het
Cdc5l	C	A	17: 45,404,647	A680S	probably benign	Het
Cds1	A	G	5: 101,812,510	T276A	probably damaging	Het
Cit	A	G	5: 116,005,999	R1976G	possibly damaging	Het
Col6a5	T	C	9: 105,925,821	D1315G	unknown	Het
Emilin1	T	G	5: 30,920,663	L922R	probably damaging	Het
Fank1	T	C	7: 133,876,849	L213P	probably damaging	Het
Foxc2	T	C	8: 121,118,049	S479P	probably benign	Het
Gm14548	T	C	7: 3,897,240	Y121C	probably damaging	Het
Golgb1	G	A	16: 36,912,080	R563H	possibly damaging	Het
Hoxb13	A	G	11: 96,194,843	Y134C	probably damaging	Het
Krtap4-16	A	T	11: 99,851,341	C78S	possibly damaging	Het
Lars	C	T	18: 42,214,759		probably null	Het
Lipe	T	C	7: 25,383,632	N740S	probably damaging	Het
Mbd1	C	T	18: 74,275,427		probably benign	Het
Mbd5	A	G	2: 49,313,709	D1700G	probably damaging	Het
Mpp7	A	G	18: 7,403,297	Y338H	probably damaging	Het
Pdgfrl	A	G	8: 40,985,594	D189G	probably damaging	Het
Plxnc1	T	C	10: 94,810,684	N1293S	probably damaging	Het
Ppm1e	C	A	11: 87,240,662	A302S	probably damaging	Het
Rassf8	A	G	6: 145,817,190		probably benign	Het
Rttn	T	C	18: 88,972,494	W52R	probably damaging	Het
Skint8	T	C	4: 111,939,593	V298A	probably benign	Het
Tulp1	A	T	17: 28,358,542		probably benign	Het
Unc5c	T	A	3: 141,788,890	D321E	probably benign	Het
Usp16	G	A	16: 87,479,739	C654Y	probably damaging	Het
Vwce	G	A	19: 10,655,400	W575*	probably null	Het
Wdr89	T	G	12: 75,633,099	D127A	probably damaging	Het
Zfp942	A	G	17: 21,932,991		probably null	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
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
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
Z1176:Zc3h6	UTSW	2	129016221	missense	probably benign	0.01

Posted On

2015-12-18