Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02749:Ascc2'

306226

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ascc2

Ensembl Gene

ENSMUSG00000020412

Gene Name

activating signal cointegrator 1 complex subunit 2

Synonyms

1700011I11Rik, ASC1p100, 2610034L15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02749

Quality Score

Status

Chromosome

Chromosomal Location

4637747-4685699 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 4640481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070257] [ENSMUST00000109930]

AlphaFold

Q91WR3

Predicted Effect

probably null
Transcript: ENSMUST00000070257

SMART Domains

Protein: ENSMUSP00000063272
Gene: ENSMUSG00000020412

Domain	Start	End	E-Value	Type
CUE	465	507	7.59e-11	SMART
low complexity region	599	614	N/A	INTRINSIC
low complexity region	648	663	N/A	INTRINSIC
low complexity region	718	735	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109930

SMART Domains

Protein: ENSMUSP00000105556
Gene: ENSMUSG00000020412

Domain	Start	End	E-Value	Type
CUE	465	507	7.59e-11	SMART
low complexity region	559	574	N/A	INTRINSIC
low complexity region	608	623	N/A	INTRINSIC
low complexity region	678	695	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	T	C	5: 90,571,765	V240A	possibly damaging	Het
9230104M06Rik	T	C	12: 113,000,175	D61G	probably benign	Het
Atrn	G	T	2: 130,947,734		probably benign	Het
Atrn	C	T	2: 130,970,144	Q670*	probably null	Het
Calr	A	C	8: 84,844,488	W236G	probably damaging	Het
Camk2g	T	A	14: 20,766,016		probably null	Het
Cd101	G	T	3: 101,020,399	T122K	probably damaging	Het
Col4a3bp	T	A	13: 96,629,135	N469K	possibly damaging	Het
Cryl1	T	C	14: 57,303,724	T168A	probably benign	Het
Diaph3	A	G	14: 86,918,825	I684T	probably damaging	Het
Ednrb	A	T	14: 103,823,059	M266K	possibly damaging	Het
Eif4h	T	C	5: 134,639,292	D3G	probably damaging	Het
Eny2	C	T	15: 44,429,635	R28C	possibly damaging	Het
Epsti1	A	G	14: 77,939,923	E181G	probably damaging	Het
Ezh2	A	G	6: 47,533,764	F598S	probably damaging	Het
Fat3	G	T	9: 16,006,711	T1472K	possibly damaging	Het
Gabra4	T	A	5: 71,638,147	I262F	probably benign	Het
Gm15448	A	G	7: 3,822,625	I415T	probably damaging	Het
Gpat4	A	T	8: 23,180,870	Y109N	probably damaging	Het
Gpsm1	C	T	2: 26,339,675	T36I	probably damaging	Het
Hikeshi	C	T	7: 89,935,889	V36I	possibly damaging	Het
Hip1	T	C	5: 135,444,751	M238V	probably benign	Het
Hnrnpll	A	T	17: 80,061,991	M1K	probably null	Het
Irx2	G	A	13: 72,631,310	D238N	probably damaging	Het
Kcnip4	T	A	5: 48,409,785		probably benign	Het
Lair1	G	A	7: 4,028,901	T69I	possibly damaging	Het
Lamc1	A	G	1: 153,249,853	I558T	possibly damaging	Het
Map4k5	C	T	12: 69,815,806	E639K	probably benign	Het
Mc4r	A	G	18: 66,859,662	S127P	probably damaging	Het
Mmp23	A	G	4: 155,651,532	M221T	possibly damaging	Het
Mre11a	T	C	9: 14,826,591	S587P	possibly damaging	Het
Myh9	A	T	15: 77,807,986	Y124*	probably null	Het
Nek9	C	A	12: 85,305,507	A861S	probably benign	Het
Nup155	T	A	15: 8,134,076	Y576N	probably damaging	Het
Olfr1128	C	T	2: 87,544,657	V296M	probably damaging	Het
Pcca	A	T	14: 122,534,388	T8S	probably benign	Het
Pcdh15	A	G	10: 74,631,068	D1573G	probably benign	Het
Pdpr	T	A	8: 111,118,090	V373E	probably benign	Het
Pdzph1	A	T	17: 58,932,483	L950Q	possibly damaging	Het
Prss35	A	C	9: 86,756,244	K356Q	probably damaging	Het
Psg22	A	T	7: 18,723,019	T237S	possibly damaging	Het
Rdh13	A	G	7: 4,427,704	Y252H	probably damaging	Het
Sema3d	T	C	5: 12,563,145		probably benign	Het
Slc35b2	G	A	17: 45,566,567	V207I	probably benign	Het
Sparcl1	T	G	5: 104,092,880	E226A	possibly damaging	Het
Srms	C	A	2: 181,209,509	A155S	possibly damaging	Het
Tas2r107	A	T	6: 131,659,954	I44N	probably damaging	Het
Tmem236	C	T	2: 14,219,321	T307M	probably damaging	Het
Ush2a	C	T	1: 188,946,958	P4788S	probably damaging	Het
Vmn1r170	A	T	7: 23,606,291	L39F	probably benign	Het
Vmn2r90	T	A	17: 17,726,860	*121R	probably null	Het

Other mutations in Ascc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0485:Ascc2	UTSW	11	4672302	missense	probably benign	0.01
R0632:Ascc2	UTSW	11	4649855	missense	probably damaging	1.00
R0690:Ascc2	UTSW	11	4682933	missense	probably damaging	1.00
R0942:Ascc2	UTSW	11	4668380	missense	probably benign	0.31
R1893:Ascc2	UTSW	11	4672305	missense	probably benign	0.01
R1991:Ascc2	UTSW	11	4679257	missense	probably benign
R2062:Ascc2	UTSW	11	4681496	missense	probably benign
R2063:Ascc2	UTSW	11	4681496	missense	probably benign
R2065:Ascc2	UTSW	11	4681496	missense	probably benign
R2067:Ascc2	UTSW	11	4681496	missense	probably benign
R2068:Ascc2	UTSW	11	4681496	missense	probably benign
R2292:Ascc2	UTSW	11	4679352	splice site	probably benign
R3076:Ascc2	UTSW	11	4672446	missense	probably damaging	1.00
R4436:Ascc2	UTSW	11	4656305	missense	probably damaging	1.00
R4783:Ascc2	UTSW	11	4646653	missense	probably benign	0.01
R5211:Ascc2	UTSW	11	4673399	missense	possibly damaging	0.95
R5395:Ascc2	UTSW	11	4659273	missense	possibly damaging	0.92
R5859:Ascc2	UTSW	11	4658284	missense	probably benign	0.11
R5917:Ascc2	UTSW	11	4681506	missense	probably benign	0.03
R7569:Ascc2	UTSW	11	4679506	missense	probably damaging	1.00
R7875:Ascc2	UTSW	11	4668389	missense	probably benign	0.00
R8411:Ascc2	UTSW	11	4647208	missense	probably damaging	1.00
R8431:Ascc2	UTSW	11	4664227	critical splice acceptor site	probably null
X0011:Ascc2	UTSW	11	4658297	missense	probably benign
Z1088:Ascc2	UTSW	11	4646656	missense	probably benign	0.03
Z1176:Ascc2	UTSW	11	4646653	missense	probably benign	0.01
Z1176:Ascc2	UTSW	11	4672487	missense	probably benign

Posted On

2015-04-16