Mutagenetix > Incidental Mutation

Incidental Mutation 'R7569:Ascc2'

585648

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

045657-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7569 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4637747-4685699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4679506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 618 (V618M)

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: V618M

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

SMART Domains

Protein: ENSMUSP00000063272
Gene: ENSMUSG00000020412
AA Change: V618M

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: V578M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105556
Gene: ENSMUSG00000020412
AA Change: V578M

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

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
9330182O14Rik	A	T	15: 40,144,948	T73S	unknown	Het
Acvrl1	A	G	15: 101,135,755	Q106R	probably benign	Het
Adgb	A	T	10: 10,431,252	D329E	probably benign	Het
Ankrd12	A	T	17: 65,982,905	D1844E	probably damaging	Het
Ankub1	G	A	3: 57,665,618	R228*	probably null	Het
Apol6	A	C	15: 77,050,698		probably benign	Het
Asic3	A	G	5: 24,414,048	T113A	probably benign	Het
BC034090	T	A	1: 155,217,405	H769L	probably benign	Het
Bcl11a	G	T	11: 24,085,458	E65*	probably null	Het
Birc6	G	T	17: 74,598,082	R1290L	possibly damaging	Het
C6	A	G	15: 4,789,581	E465G	probably benign	Het
Cav2	T	A	6: 17,282,079	I112N	probably damaging	Het
Cep131	G	A	11: 120,066,713	A848V	probably damaging	Het
Col8a1	T	A	16: 57,627,192	I652F	unknown	Het
Cul4a	A	G	8: 13,123,493	N180S	probably benign	Het
Dhx38	A	G	8: 109,560,695	S214P	probably damaging	Het
Dmxl2	A	G	9: 54,415,987	V1197A	possibly damaging	Het
Dusp27	T	C	1: 166,108,035	D198G	probably damaging	Het
Dynlt1f	A	G	17: 6,655,782	S7P	not run	Het
Epha1	T	A	6: 42,365,422	T331S	possibly damaging	Het
Gm10436	A	T	12: 88,176,315	Y373N	probably benign	Het
Gm49333	T	A	16: 20,642,487	Y641*	probably null	Het
Hus1b	A	G	13: 30,946,864	Y271H	probably damaging	Het
Kmt2b	A	G	7: 30,569,553	V2610A	possibly damaging	Het
Lama2	A	G	10: 27,265,050	L651P	probably damaging	Het
Lgr5	T	C	10: 115,462,756	Y361C	probably damaging	Het
Map1s	T	C	8: 70,913,498	V349A	probably benign	Het
Map3k6	A	G	4: 133,250,077	R912G	probably benign	Het
Marc2	A	T	1: 184,841,425	F92Y	possibly damaging	Het
Nampt	T	A	12: 32,850,434	H459Q	probably benign	Het
Nlrp1a	T	C	11: 71,109,043	M817V	probably benign	Het
Npsr1	A	G	9: 24,313,730	R345G	probably benign	Het
Nuak2	G	A	1: 132,316,281	A18T	possibly damaging	Het
Olfr1428	T	C	19: 12,109,021	D175G	possibly damaging	Het
Olfr993	A	G	2: 85,414,135	V248A	probably damaging	Het
Ppp4r3b	T	C	11: 29,188,540	F296S	possibly damaging	Het
Pycr2	T	C	1: 180,904,518	F19L	probably benign	Het
Robo2	T	A	16: 74,035,115	T226S	possibly damaging	Het
Rock1	A	T	18: 10,140,194	N132K	probably damaging	Het
Rp1	A	T	1: 4,284,840	L379Q	unknown	Het
Sema6d	A	G	2: 124,657,972	I323V	possibly damaging	Het
Slc12a4	A	G	8: 105,945,847	I814T	probably damaging	Het
Slc18a2	G	A	19: 59,284,152	G352R	probably damaging	Het
Slc39a14	T	C	14: 70,309,827	T357A	possibly damaging	Het
Smarcad1	T	A	6: 65,052,711	D94E	probably benign	Het
Sorcs2	A	G	5: 36,025,876	Y1018H	probably benign	Het
Srebf1	G	T	11: 60,200,121	T1069K	possibly damaging	Het
St3gal3	A	G	4: 117,964,356	V123A	probably benign	Het
Stradb	A	G	1: 58,991,151	Y188C	unknown	Het
Sult2a2	T	C	7: 13,779,505	F186L	probably benign	Het
Syne2	A	G	12: 75,927,390	T1120A	probably benign	Het
Taok1	A	T	11: 77,555,614	S430T	probably benign	Het
Tmem62	A	T	2: 121,006,930	I573L	probably benign	Het
Trav9-1	T	C	14: 53,488,124	S7P	probably benign	Het
U2af1l4	A	T	7: 30,563,557	I24F	probably damaging	Het
Usp33	T	A	3: 152,391,665	I840N	probably damaging	Het
Vmn2r74	A	C	7: 85,952,336	I698S	probably damaging	Het
Zfp352	C	T	4: 90,223,659	P12L	possibly damaging	Het
Zfp507	T	A	7: 35,794,544	E358V	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
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'- TACCAGAAGTACAGCGTGGTG -3'
(R):5'- TAAATGCTTCCTGTGGGCTTCAG -3'

Sequencing Primer
(F):5'- TGGTAGAGGAGGTAGGCTGCC -3'
(R):5'- GCGGAGTTGAAGGAGCTTG -3'

Posted On

2019-10-17