Mutagenetix > Incidental Mutation

Incidental Mutation 'R0942:Ascc2'

82758

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

039081-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0942 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4637747-4685699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4668380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 325 (I325N)

Ref Sequence

ENSEMBL: ENSMUSP00000105556 (fasta)

Gene Model

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

AlphaFold

Q91WR3

Predicted Effect

probably benign
Transcript: ENSMUST00000070257
AA Change: I325N

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000063272
Gene: ENSMUSG00000020412
AA Change: I325N

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
AA Change: I325N

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105556
Gene: ENSMUSG00000020412
AA Change: I325N

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

Meta Mutation Damage Score

0.1211

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.7%
20x: 95.9%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	C	T	9: 22,208,071		noncoding transcript	Het
Aass	C	T	6: 23,075,152		probably benign	Het
Abcb5	C	A	12: 118,906,198	V742F	possibly damaging	Het
Abcd4	A	G	12: 84,612,828	I165T	probably damaging	Het
Acer3	T	C	7: 98,257,742	Y119C	probably damaging	Het
Ap3d1	A	T	10: 80,732,955		probably benign	Het
Atad2b	T	A	12: 5,024,591	I1050N	probably damaging	Het
Brms1l	T	C	12: 55,865,957	V245A	probably benign	Het
Cadps2	T	A	6: 23,263,562	D1270V	probably damaging	Het
Cdh23	A	T	10: 60,410,860	M936K	possibly damaging	Het
Cenpj	A	G	14: 56,555,209		probably benign	Het
Dner	T	C	1: 84,585,309		probably benign	Het
Dzip1	T	A	14: 118,887,197	R555*	probably null	Het
Enpp4	A	T	17: 44,101,881	L254*	probably null	Het
Erich3	T	A	3: 154,739,151	D518E	probably benign	Het
Gli2	G	A	1: 118,837,506	R972C	probably damaging	Het
Gm5861	A	T	5: 11,186,521	T174S	probably benign	Het
Gpc1	G	A	1: 92,857,309	R358H	possibly damaging	Het
Grb7	T	C	11: 98,453,808	Y346H	probably damaging	Het
Heg1	T	C	16: 33,760,803	L1192P	probably damaging	Het
Il16	T	A	7: 83,663,141	Q445L	probably benign	Het
Il17d	C	T	14: 57,542,320		probably benign	Het
Kmt2c	A	T	5: 25,315,303	N1936K	probably benign	Het
Lrrc45	T	C	11: 120,718,238		probably benign	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Mphosph9	T	A	5: 124,262,037	R934*	probably null	Het
Nek11	T	A	9: 105,295,371		probably null	Het
Nf1	T	C	11: 79,438,711	S634P	probably benign	Het
Olfr293	T	A	7: 86,664,106	M148K	probably damaging	Het
Pkhd1l1	T	C	15: 44,532,959	V1959A	probably benign	Het
Pkp2	G	T	16: 16,226,030	G216V	probably benign	Het
Ppp1r16a	T	C	15: 76,694,011	L394P	probably damaging	Het
Ptprc	G	A	1: 138,068,401	Q1070*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rprd2	A	T	3: 95,765,418	I891N	probably damaging	Het
Taf15	T	C	11: 83,499,106	I40T	probably damaging	Het
Tshz1	A	G	18: 84,013,053	Y1077H	probably damaging	Het
Ttn	T	C	2: 76,863,489	E223G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TCCCTCAGTGACCTTTAAGACCACC -3'
(R):5'- GCAAATCACCCTGTGTCAGTACCC -3'

Sequencing Primer
(F):5'- TTTAAGACCACCGCAACTCTGG -3'
(R):5'- gtcctgctcaccttttttcc -3'

Posted On

2013-11-08