Mutagenetix > Incidental Mutation

Incidental Mutation 'R8411:Ascc2'

652688

Institutional Source

Beutler Lab

Gene Symbol

Ascc2

Ensembl Gene

ENSMUSG00000020412

Gene Name

activating signal cointegrator 1 complex subunit 2

Synonyms

1700011I11Rik, ASC1p100, 2610034L15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4637747-4685699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4647208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 129 (R129Q)

Ref Sequence

ENSEMBL: ENSMUSP00000063272 (fasta)

Gene Model

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

AlphaFold

Q91WR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000070257
AA Change: R129Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000063272
Gene: ENSMUSG00000020412
AA Change: R129Q

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 damaging
Transcript: ENSMUST00000109930
AA Change: R129Q

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

SMART Domains

Protein: ENSMUSP00000105556
Gene: ENSMUSG00000020412
AA Change: R129Q

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,137,722	S89P	probably benign	Het
Aatf	A	T	11: 84,470,676	M367K	probably benign	Het
Adam18	A	T	8: 24,652,127	I211N	probably damaging	Het
Angpt1	T	C	15: 42,427,034	Y478C	probably damaging	Het
Apba2	A	T	7: 64,736,926	I434F	probably damaging	Het
Arfgef1	T	A	1: 10,216,534	K50N	probably benign	Het
Arfgef2	A	T	2: 166,873,983	Q1397H	probably benign	Het
Atxn1	A	G	13: 45,566,556	V621A	probably benign	Het
Catsperz	A	T	19: 6,922,562	L192M	probably benign	Het
Cd5	G	A	19: 10,720,221	P465S	probably damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cfap61	A	G	2: 145,947,183	E94G	probably benign	Het
Chd1	A	G	17: 15,762,449	H1392R	probably damaging	Het
Csnk1a1	A	G	18: 61,555,817	I23V	probably benign	Het
Ctnnd2	C	T	15: 30,647,033	R292C	probably benign	Het
Dcaf6	T	A	1: 165,388,675	H453L	probably benign	Het
Dnah3	C	A	7: 120,011,030	D1728Y	probably damaging	Het
Dtx3	T	C	10: 127,192,824	K179E	possibly damaging	Het
Fam3b	T	A	16: 97,481,853	Y74F	probably benign	Het
Gm5464	T	C	14: 66,869,106	L64P	unknown	Het
Gm5624	T	G	14: 44,561,890	N70T		Het
Kcnh7	T	A	2: 62,764,608	H706L	probably damaging	Het
Kdm2b	C	T	5: 122,880,176	R1067H	probably damaging	Het
Klhl28	A	T	12: 64,950,090	H492Q	probably damaging	Het
Loxl3	T	A	6: 83,050,624	C716S	probably damaging	Het
Ltbp2	A	G	12: 84,786,413	Y1474H	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Mmp24	G	T	2: 155,814,015	V458L	probably benign	Het
Mpl	C	A	4: 118,446,109	S502I		Het
Nfatc1	A	T	18: 80,667,042	V503D	probably damaging	Het
Nim1k	A	G	13: 119,714,271	I133T	possibly damaging	Het
Nr1d2	T	C	14: 18,215,031	Y327C	probably damaging	Het
Olfr1214	T	C	2: 88,988,065	T46A	probably benign	Het
Oma1	C	T	4: 103,328,916	R360*	probably null	Het
Oog2	T	A	4: 144,194,173	W59R	probably damaging	Het
Pcdh10	A	G	3: 45,379,539	E96G	probably damaging	Het
Pcna	T	A	2: 132,251,930	T98S	probably benign	Het
Pcnx3	C	T	19: 5,679,590	C899Y	possibly damaging	Het
Phf11d	T	C	14: 59,356,434	N97S	probably benign	Het
Plekhg4	G	A	8: 105,377,329	W431*	probably null	Het
Plk4	A	G	3: 40,813,466	T815A	probably benign	Het
Pnma2	C	T	14: 66,916,313	T62I	possibly damaging	Het
Ppp1r9a	C	T	6: 5,057,568	R548W	probably damaging	Het
Ptx3	A	G	3: 66,224,780	S241G	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rplp0	A	T	5: 115,560,764	K26N	probably damaging	Het
Sec62	A	C	3: 30,818,782	E338A	unknown	Het
Sema6a	T	C	18: 47,248,955	M842V	probably benign	Het
Serpina3j	T	C	12: 104,314,784	V72A	probably benign	Het
Siglecf	T	C	7: 43,351,944	F112S	probably damaging	Het
Slc29a4	A	G	5: 142,720,125	N455D	probably damaging	Het
Slc6a11	T	A	6: 114,131,437	F54Y	probably benign	Het
Spag6	G	A	2: 18,710,583	V80M	probably damaging	Het
Spic	T	C	10: 88,678,636	E34G	possibly damaging	Het
Tecpr2	A	G	12: 110,931,720	K469E	possibly damaging	Het
Them7	T	A	2: 105,297,845	L57Q	probably benign	Het
Tlr3	G	A	8: 45,396,941	A897V	probably damaging	Het
Tnp2	A	G	16: 10,788,508	C32R	possibly damaging	Het
Trpm6	A	T	19: 18,853,968	Q1399L	probably benign	Het
Ttn	C	A	2: 76,846,671	E11074*	probably null	Het
Ubash3b	G	A	9: 41,043,485	A243V	probably benign	Het
Vash1	G	A	12: 86,680,178	R64Q	possibly damaging	Het
Vmn1r167	T	A	7: 23,505,556	M12L	possibly damaging	Het
Vmn2r111	T	A	17: 22,548,581	H645L	probably benign	Het
Vmn2r75	A	T	7: 86,148,514	I697K	probably damaging	Het
Vmn2r87	A	G	10: 130,472,257	I704T	probably damaging	Het

Other mutations in Ascc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02749:Ascc2	APN	11	4640481	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TAAATCAGGGCTGACAGGCTG -3'
(R):5'- ACAGATTCTTTCCCCAAAAGGC -3'

Sequencing Primer
(F):5'- AACCTTTGAGTCTCAGCAGTCAG -3'
(R):5'- CCAAAAGGCAGGGATAAAGAGG -3'

Posted On

2020-10-20