Mutagenetix > Incidental Mutation

Incidental Mutation 'R8431:Ascc2'

653759

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

067776-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8431 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4637747-4685699 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 4664227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000063272 (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 benign
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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 123,968,134	F273S		Het
Abhd14b	G	T	9: 106,451,413	A78S	probably benign	Het
Adamtsl5	G	A	10: 80,345,394	P51L	probably benign	Het
Adap1	A	C	5: 139,273,425	F336V	probably benign	Het
Ankrd33b	T	C	15: 31,305,102	N172S	probably damaging	Het
Arhgap24	A	G	5: 102,892,598	E560G	possibly damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
C130026I21Rik	G	A	1: 85,257,449	H130Y	probably benign	Het
Card6	A	T	15: 5,100,276	F546Y	probably damaging	Het
Cby3	T	G	11: 50,359,257	S2A	probably damaging	Het
Cct3	T	C	3: 88,318,524	S385P	possibly damaging	Het
Cfap65	C	T	1: 74,928,044	G249R	probably benign	Het
Cpne3	C	A	4: 19,526,316	A408S	probably damaging	Het
Ctsr	A	C	13: 61,160,490	L280R	probably damaging	Het
D930048N14Rik	GGG	GGGG	11: 51,651,119		probably null	Het
Dlg4	A	G	11: 70,039,562	I388V	probably benign	Het
Ednrb	T	A	14: 103,843,197	I94F	probably benign	Het
Eftud2	C	A	11: 102,846,236	A573S	probably benign	Het
Fsip2	C	A	2: 82,981,566	P2743Q	probably damaging	Het
Gp2	C	T	7: 119,442,787	C505Y	probably benign	Het
Ier5	C	A	1: 155,098,560	D291Y	probably benign	Het
Ifi207	T	C	1: 173,730,504	I223V	unknown	Het
Ifi208	T	C	1: 173,683,278	V333A	possibly damaging	Het
Kank4	T	C	4: 98,779,272	I313V	probably benign	Het
Klhl7	T	C	5: 24,138,475	V263A	possibly damaging	Het
Klrg2	T	C	6: 38,628,187	D314G	probably benign	Het
Lrr1	T	C	12: 69,178,696	M382T	possibly damaging	Het
Ly6e	A	T	15: 74,958,341	Q48L	probably benign	Het
March6	C	T	15: 31,505,746	W43*	probably null	Het
Mepe	A	G	5: 104,338,181	T396A	possibly damaging	Het
Myh8	T	G	11: 67,283,614	L229R	possibly damaging	Het
Ndufa10	C	G	1: 92,452,010		probably null	Het
Nek1	C	A	8: 61,034,032	A272E	possibly damaging	Het
Nr1h2	T	C	7: 44,550,343	Y384C	probably damaging	Het
Olfr1223	C	A	2: 89,144,379	V215F	probably benign	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Phf2	A	G	13: 48,821,602	F294S	unknown	Het
Polr3e	A	T	7: 120,931,305	I173F	probably damaging	Het
Ppfia2	A	T	10: 106,836,091	R464*	probably null	Het
Ppp1r9a	T	A	6: 5,115,456	S860T	probably benign	Het
Rnf144a	T	C	12: 26,327,301	Y93C	probably damaging	Het
Ryr2	T	C	13: 11,659,008	E3390G	probably benign	Het
Scn7a	T	C	2: 66,703,820	T504A	possibly damaging	Het
Slc26a5	T	G	5: 21,813,906	D645A	probably damaging	Het
Ston2	T	A	12: 91,648,297	I446F	probably damaging	Het
Tcp11l1	G	A	2: 104,699,969	P57S	probably damaging	Het
Th	G	T	7: 142,893,064	H488Q	probably benign	Het
Tmprss4	A	T	9: 45,184,363	I61N	probably benign	Het
Wdtc1	A	G	4: 133,322,170		probably null	Het
Xpnpep1	T	C	19: 52,995,506	N596S	probably benign	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
R8411:Ascc2	UTSW	11	4647208	missense	probably damaging	1.00
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'- GTCAATGAAAGGCCCGTCTC -3'
(R):5'- AACGTGTGCAGAAGGATCCTG -3'

Sequencing Primer
(F):5'- ATGAAAGGCCCGTCTCTGAGG -3'
(R):5'- AAGGATCCTGTAGCAGCGTC -3'

Posted On

2020-10-20