Mutagenetix > Incidental Mutation

Incidental Mutation 'R2062:Ascc2'

228778

Institutional Source

Beutler Lab

Gene Symbol

Ascc2

Ensembl Gene

ENSMUSG00000020412

Gene Name

activating signal cointegrator 1 complex subunit 2

Synonyms

2610034L15Rik, 1700011I11Rik, ASC1p100

MMRRC Submission

040067-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4587747-4635699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4631496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 646 (M646L)

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: M686L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000063272
Gene: ENSMUSG00000020412
AA Change: M686L

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: M646L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105556
Gene: ENSMUSG00000020412
AA Change: M646L

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

0.0620

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
A2ml1	A	T	6: 128,529,271 (GRCm39)	M957K	probably benign	Het
Adam7	C	A	14: 68,742,610 (GRCm39)	V668F	probably benign	Het
Adcy7	T	G	8: 89,038,902 (GRCm39)	L306R	probably damaging	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Ano7	T	C	1: 93,318,035 (GRCm39)	V249A	probably benign	Het
Aox1	T	C	1: 58,098,351 (GRCm39)		probably null	Het
Asah2	A	T	19: 32,002,274 (GRCm39)	V290E	probably damaging	Het
Atxn2l	T	A	7: 126,095,038 (GRCm39)	K421N	probably damaging	Het
Cars2	T	C	8: 11,597,747 (GRCm39)	I110V	probably damaging	Het
Ccdc74a	A	G	16: 17,467,890 (GRCm39)	N249S	probably benign	Het
Cenpe	T	C	3: 134,928,082 (GRCm39)		probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cnep1r1	G	T	8: 88,845,445 (GRCm39)		probably benign	Het
Cyp2d37-ps	C	T	15: 82,574,289 (GRCm39)		noncoding transcript	Het
Cyp3a25	A	G	5: 145,923,779 (GRCm39)		probably benign	Het
Dis3l	G	T	9: 64,246,855 (GRCm39)	Q67K	probably benign	Het
Dnah1	A	G	14: 30,993,086 (GRCm39)	V2936A	probably damaging	Het
Dnah5	C	T	15: 28,366,416 (GRCm39)	R2710C	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Dvl3	G	A	16: 20,345,101 (GRCm39)	S361N	probably benign	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Eif2ak3	T	C	6: 70,881,181 (GRCm39)	V1085A	probably benign	Het
Eif3b	T	C	5: 140,412,208 (GRCm39)	Y226H	probably damaging	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Ercc1	A	G	7: 19,088,295 (GRCm39)	*37W	probably null	Het
Evi2a	G	A	11: 79,418,593 (GRCm39)	Q6*	probably null	Het
Faah	C	T	4: 115,855,770 (GRCm39)	V552M	probably damaging	Het
Fat1	T	A	8: 45,477,369 (GRCm39)	N2138K	probably damaging	Het
Fat1	T	A	8: 45,479,741 (GRCm39)	V2929E	probably damaging	Het
Gm2959	A	G	14: 42,235,658 (GRCm39)		noncoding transcript	Het
Gm6327	A	T	16: 12,578,979 (GRCm39)		noncoding transcript	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Hspg2	A	T	4: 137,286,678 (GRCm39)	T3666S	possibly damaging	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Iqgap1	G	A	7: 80,373,727 (GRCm39)	Q1421*	probably null	Het
Itga3	T	A	11: 94,944,902 (GRCm39)	Q802L	possibly damaging	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Lztr1	T	C	16: 17,327,534 (GRCm39)	V79A	probably damaging	Het
Mast4	C	T	13: 102,895,601 (GRCm39)	E736K	probably benign	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Myof	A	G	19: 37,904,194 (GRCm39)	V2A	possibly damaging	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Nav3	G	A	10: 109,555,882 (GRCm39)	T1683M	probably damaging	Het
Nbea	A	G	3: 55,993,578 (GRCm39)		probably benign	Het
Nebl	A	T	2: 17,401,932 (GRCm39)	M427K	probably benign	Het
Ngdn	T	C	14: 55,259,564 (GRCm39)	V205A	possibly damaging	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or10j3b	T	C	1: 173,043,277 (GRCm39)	F20L	probably benign	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or2w3	G	T	11: 58,556,808 (GRCm39)	C141F	probably damaging	Het
Or5m9	A	G	2: 85,877,299 (GRCm39)	T158A	probably damaging	Het
Or6c205	T	A	10: 129,087,001 (GRCm39)	Y199*	probably null	Het
Park7	T	C	4: 150,989,732 (GRCm39)	N76S	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pkhd1	A	G	1: 20,271,559 (GRCm39)	I2998T	probably damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Ppard	A	G	17: 28,518,663 (GRCm39)	H388R	probably damaging	Het
Psma1	A	G	7: 113,869,001 (GRCm39)	S142P	possibly damaging	Het
Pth2r	T	C	1: 65,382,721 (GRCm39)	I158T	probably damaging	Het
Rbl2	C	A	8: 91,833,367 (GRCm39)	P714Q	probably damaging	Het
Rexo2	A	T	9: 48,385,813 (GRCm39)	S104T	possibly damaging	Het
Sema5a	T	C	15: 32,609,363 (GRCm39)		probably benign	Het
Spmip10	C	T	18: 56,721,535 (GRCm39)	Q25*	probably null	Het
Sun2	A	G	15: 79,622,852 (GRCm39)	L109P	probably damaging	Het
Tdg	A	G	10: 82,477,368 (GRCm39)	T116A	probably benign	Het
Terb1	A	T	8: 105,195,380 (GRCm39)	M587K	possibly damaging	Het
Tmcc1	C	T	6: 116,020,019 (GRCm39)	V118M	probably benign	Het
Tnfsf11	T	A	14: 78,516,362 (GRCm39)	N202I	probably damaging	Het
Togaram2	T	C	17: 72,023,360 (GRCm39)	S759P	probably benign	Het
Ttc7b	G	A	12: 100,291,948 (GRCm39)	A208V	probably damaging	Het
Tti2	T	C	8: 31,644,338 (GRCm39)		probably benign	Het
Wnk1	T	C	6: 119,905,118 (GRCm39)		probably null	Het
Zfyve26	T	C	12: 79,330,806 (GRCm39)		probably null	Het
Zfyve28	T	C	5: 34,391,681 (GRCm39)	M157V	probably null	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably damaging	Het

Other mutations in Ascc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02749:Ascc2	APN	11	4,590,481 (GRCm39)	critical splice donor site	probably null
R0485:Ascc2	UTSW	11	4,622,302 (GRCm39)	missense	probably benign	0.01
R0632:Ascc2	UTSW	11	4,599,855 (GRCm39)	missense	probably damaging	1.00
R0690:Ascc2	UTSW	11	4,632,933 (GRCm39)	missense	probably damaging	1.00
R0942:Ascc2	UTSW	11	4,618,380 (GRCm39)	missense	probably benign	0.31
R1893:Ascc2	UTSW	11	4,622,305 (GRCm39)	missense	probably benign	0.01
R1991:Ascc2	UTSW	11	4,629,257 (GRCm39)	missense	probably benign
R2063:Ascc2	UTSW	11	4,631,496 (GRCm39)	missense	probably benign
R2065:Ascc2	UTSW	11	4,631,496 (GRCm39)	missense	probably benign
R2067:Ascc2	UTSW	11	4,631,496 (GRCm39)	missense	probably benign
R2068:Ascc2	UTSW	11	4,631,496 (GRCm39)	missense	probably benign
R2292:Ascc2	UTSW	11	4,629,352 (GRCm39)	splice site	probably benign
R3076:Ascc2	UTSW	11	4,622,446 (GRCm39)	missense	probably damaging	1.00
R4436:Ascc2	UTSW	11	4,606,305 (GRCm39)	missense	probably damaging	1.00
R4783:Ascc2	UTSW	11	4,596,653 (GRCm39)	missense	probably benign	0.01
R5211:Ascc2	UTSW	11	4,623,399 (GRCm39)	missense	possibly damaging	0.95
R5395:Ascc2	UTSW	11	4,609,273 (GRCm39)	missense	possibly damaging	0.92
R5859:Ascc2	UTSW	11	4,608,284 (GRCm39)	missense	probably benign	0.11
R5917:Ascc2	UTSW	11	4,631,506 (GRCm39)	missense	probably benign	0.03
R7569:Ascc2	UTSW	11	4,629,506 (GRCm39)	missense	probably damaging	1.00
R7875:Ascc2	UTSW	11	4,618,389 (GRCm39)	missense	probably benign	0.00
R8411:Ascc2	UTSW	11	4,597,208 (GRCm39)	missense	probably damaging	1.00
R8431:Ascc2	UTSW	11	4,614,227 (GRCm39)	critical splice acceptor site	probably null
X0011:Ascc2	UTSW	11	4,608,297 (GRCm39)	missense	probably benign
Z1088:Ascc2	UTSW	11	4,596,656 (GRCm39)	missense	probably benign	0.03
Z1176:Ascc2	UTSW	11	4,622,487 (GRCm39)	missense	probably benign
Z1176:Ascc2	UTSW	11	4,596,653 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CACATACTCCCTGTGGTGTG -3'
(R):5'- CACACTTCATCTTTAGGCAGCAC -3'

Sequencing Primer
(F):5'- TTTCACCCCGGCAGCAC -3'
(R):5'- CTTCATCTTTAGGCAGCACTTAATG -3'

Posted On

2014-09-17