Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02202:Zc3h6'

284371

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

Essential gene?

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

Stock #

IGL02202

Quality Score

Status

Chromosome

Chromosomal Location

128967402-129018563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129016581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 844 (L844P)

Ref Sequence

ENSEMBL: ENSMUSP00000105949 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000110320
AA Change: L844P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: L844P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,288,529 (GRCm38)	T709I	possibly damaging	Het
Arhgef1	T	A	7: 24,913,429 (GRCm38)	Y185*	probably null	Het
Atxn7l1	T	C	12: 33,342,078 (GRCm38)	S218P	probably benign	Het
Cd200r2	T	A	16: 44,909,360 (GRCm38)	L126Q	probably damaging	Het
Cdc6	T	A	11: 98,920,815 (GRCm38)		probably null	Het
Cenph	T	C	13: 100,761,873 (GRCm38)	N174S	probably benign	Het
Cep192	A	G	18: 67,803,137 (GRCm38)	R49G	possibly damaging	Het
Edrf1	A	G	7: 133,656,970 (GRCm38)	T692A	probably benign	Het
Frem2	A	T	3: 53,654,799 (GRCm38)	H762Q	probably benign	Het
Gli2	T	C	1: 118,836,866 (GRCm38)	D1185G	probably damaging	Het
Gm498	T	A	7: 143,894,173 (GRCm38)	M251K	possibly damaging	Het
Hsd3b2	T	A	3: 98,711,867 (GRCm38)	Y254F	possibly damaging	Het
Itgal	C	A	7: 127,330,179 (GRCm38)	Y1089*	probably null	Het
Klf11	T	G	12: 24,653,632 (GRCm38)	V22G	probably benign	Het
Morc3	T	C	16: 93,870,861 (GRCm38)	V636A	probably benign	Het
Nin	T	A	12: 70,055,436 (GRCm38)	D330V	probably damaging	Het
Nlrp4a	G	T	7: 26,449,278 (GRCm38)	K103N	possibly damaging	Het
Ntsr2	T	A	12: 16,653,660 (GRCm38)	V54E	probably damaging	Het
Olfr845	C	A	9: 19,339,249 (GRCm38)	A263E	probably benign	Het
Pdha2	T	C	3: 141,210,651 (GRCm38)	I365M	probably benign	Het
Prr19	T	C	7: 25,304,037 (GRCm38)	S359P	probably damaging	Het
Ryr2	C	A	13: 11,747,658 (GRCm38)		probably benign	Het
Ryr2	T	C	13: 11,730,388 (GRCm38)	K2040E	probably damaging	Het
Sema4a	G	T	3: 88,449,743 (GRCm38)	A307E	probably damaging	Het
Setd5	T	A	6: 113,151,015 (GRCm38)	S1310T	probably benign	Het
Tph1	A	T	7: 46,653,761 (GRCm38)	D264E	probably benign	Het

Other mutations in Zc3h6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01732:Zc3h6	APN	2	129,011,875 (GRCm38)	missense	probably damaging	1.00
IGL01880:Zc3h6	APN	2	129,017,378 (GRCm38)	missense	probably damaging	0.99
IGL02160:Zc3h6	APN	2	128,997,685 (GRCm38)	missense	probably benign	0.02
IGL02161:Zc3h6	APN	2	128,993,226 (GRCm38)	missense	possibly damaging	0.90
IGL02547:Zc3h6	APN	2	129,015,611 (GRCm38)	missense	probably benign	0.00
IGL02973:Zc3h6	APN	2	128,997,795 (GRCm38)	missense	probably damaging	0.98
BB001:Zc3h6	UTSW	2	129,015,480 (GRCm38)	missense	possibly damaging	0.52
BB011:Zc3h6	UTSW	2	129,015,480 (GRCm38)	missense	possibly damaging	0.52
R0336:Zc3h6	UTSW	2	129,015,412 (GRCm38)	missense	possibly damaging	0.81
R0420:Zc3h6	UTSW	2	129,014,827 (GRCm38)	missense	probably benign	0.00
R0538:Zc3h6	UTSW	2	129,017,223 (GRCm38)	missense	possibly damaging	0.75
R0944:Zc3h6	UTSW	2	129,006,816 (GRCm38)	missense	probably damaging	1.00
R1151:Zc3h6	UTSW	2	129,017,136 (GRCm38)	missense	probably benign	0.00
R1528:Zc3h6	UTSW	2	129,017,069 (GRCm38)	missense	probably benign	0.01
R1698:Zc3h6	UTSW	2	129,017,358 (GRCm38)	missense	probably benign
R1712:Zc3h6	UTSW	2	129,016,734 (GRCm38)	missense	probably damaging	1.00
R1913:Zc3h6	UTSW	2	129,016,620 (GRCm38)	missense	probably damaging	1.00
R1926:Zc3h6	UTSW	2	128,997,795 (GRCm38)	missense	probably damaging	0.98
R2030:Zc3h6	UTSW	2	129,006,086 (GRCm38)	missense	probably damaging	1.00
R2051:Zc3h6	UTSW	2	129,015,618 (GRCm38)	missense	possibly damaging	0.55
R2133:Zc3h6	UTSW	2	128,967,830 (GRCm38)	missense	possibly damaging	0.53
R2273:Zc3h6	UTSW	2	129,014,709 (GRCm38)	missense	probably benign	0.01
R2328:Zc3h6	UTSW	2	128,993,202 (GRCm38)	missense	possibly damaging	0.85
R2862:Zc3h6	UTSW	2	129,015,460 (GRCm38)	missense	probably benign	0.43
R2899:Zc3h6	UTSW	2	129,002,232 (GRCm38)	missense	probably benign	0.00
R3711:Zc3h6	UTSW	2	129,017,331 (GRCm38)	missense	probably benign	0.00
R3743:Zc3h6	UTSW	2	128,997,792 (GRCm38)	missense	probably damaging	1.00
R3893:Zc3h6	UTSW	2	129,016,140 (GRCm38)	missense	probably damaging	1.00
R4748:Zc3h6	UTSW	2	129,002,240 (GRCm38)	missense	probably damaging	1.00
R5025:Zc3h6	UTSW	2	129,010,433 (GRCm38)	missense	possibly damaging	0.87
R5026:Zc3h6	UTSW	2	129,017,309 (GRCm38)	missense	probably benign	0.00
R5125:Zc3h6	UTSW	2	129,014,479 (GRCm38)	missense	possibly damaging	0.93
R5373:Zc3h6	UTSW	2	129,002,156 (GRCm38)	missense	possibly damaging	0.75
R5374:Zc3h6	UTSW	2	129,002,156 (GRCm38)	missense	possibly damaging	0.75
R5703:Zc3h6	UTSW	2	128,993,452 (GRCm38)	intron	probably benign
R5802:Zc3h6	UTSW	2	129,015,559 (GRCm38)	missense	possibly damaging	0.56
R5876:Zc3h6	UTSW	2	128,993,277 (GRCm38)	missense	probably benign	0.29
R5879:Zc3h6	UTSW	2	128,997,776 (GRCm38)	splice site	probably null
R5950:Zc3h6	UTSW	2	128,997,790 (GRCm38)	nonsense	probably null
R6031:Zc3h6	UTSW	2	128,967,812 (GRCm38)	missense	possibly damaging	0.85
R6031:Zc3h6	UTSW	2	128,967,812 (GRCm38)	missense	possibly damaging	0.85
R6781:Zc3h6	UTSW	2	129,015,421 (GRCm38)	missense	probably damaging	0.99
R7323:Zc3h6	UTSW	2	128,993,411 (GRCm38)	missense	unknown
R7340:Zc3h6	UTSW	2	128,993,190 (GRCm38)	missense	possibly damaging	0.90
R7572:Zc3h6	UTSW	2	129,017,252 (GRCm38)	missense	probably benign	0.02
R7576:Zc3h6	UTSW	2	129,014,553 (GRCm38)	missense	probably damaging	1.00
R7797:Zc3h6	UTSW	2	129,015,635 (GRCm38)	critical splice donor site	probably null
R7924:Zc3h6	UTSW	2	129,015,480 (GRCm38)	missense	possibly damaging	0.52
R8048:Zc3h6	UTSW	2	129,017,014 (GRCm38)	missense	probably benign	0.30
R8877:Zc3h6	UTSW	2	129,014,399 (GRCm38)	nonsense	probably null
R9076:Zc3h6	UTSW	2	129,017,176 (GRCm38)	nonsense	probably null
R9577:Zc3h6	UTSW	2	129,016,182 (GRCm38)	missense
R9687:Zc3h6	UTSW	2	129,017,361 (GRCm38)	missense	probably damaging	1.00
R9745:Zc3h6	UTSW	2	129,017,235 (GRCm38)	missense	probably benign	0.08
Z1176:Zc3h6	UTSW	2	129,016,221 (GRCm38)	missense	probably benign	0.01

Posted On

2015-04-16