Mutagenetix > Incidental Mutation

Incidental Mutation 'R5917:Ascc2'

461416

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

044114-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5917 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

4587747-4635699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4631506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 649 (L649P)

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: L689P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000063272
Gene: ENSMUSG00000020412
AA Change: L689P

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: L649P

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105556
Gene: ENSMUSG00000020412
AA Change: L649P

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,832,516 (GRCm39)	R1153*	probably null	Het
Amdhd1	T	C	10: 93,360,332 (GRCm39)	H409R	possibly damaging	Het
Anks1b	C	T	10: 90,412,803 (GRCm39)		probably benign	Het
Chst15	A	G	7: 131,872,246 (GRCm39)	F12L	probably benign	Het
Clec4a4	A	T	6: 122,981,017 (GRCm39)	K83N	probably benign	Het
Comp	T	A	8: 70,829,011 (GRCm39)		probably null	Het
Cryz	T	A	3: 154,327,403 (GRCm39)	S144T	probably benign	Het
Ctss	A	G	3: 95,450,424 (GRCm39)	D125G	probably benign	Het
Dact1	G	T	12: 71,365,456 (GRCm39)	V746L	possibly damaging	Het
Dhx29	A	G	13: 113,099,377 (GRCm39)	H1134R	probably damaging	Het
Dlgap4	A	G	2: 156,546,460 (GRCm39)	D376G	probably damaging	Het
Dnah3	T	A	7: 119,615,749 (GRCm39)	H1660L	probably damaging	Het
Ep300	T	A	15: 81,512,808 (GRCm39)		probably benign	Het
Fbxo30	A	T	10: 11,165,262 (GRCm39)		probably null	Het
Fcrl2	T	A	3: 87,164,094 (GRCm39)	H345L	probably damaging	Het
Galnt11	C	A	5: 25,452,670 (GRCm39)		probably null	Het
Il31ra	A	G	13: 112,682,846 (GRCm39)	C87R	probably benign	Het
Itga4	A	T	2: 79,117,442 (GRCm39)	Q416L	probably damaging	Het
Kcnt2	A	T	1: 140,461,666 (GRCm39)	T806S	probably damaging	Het
Lama2	A	G	10: 27,066,693 (GRCm39)	S1063P	probably damaging	Het
Lama4	T	A	10: 38,924,028 (GRCm39)	S479T	probably benign	Het
Lgi4	C	T	7: 30,759,603 (GRCm39)	T53M	possibly damaging	Het
Limk1	A	G	5: 134,686,789 (GRCm39)	F533L	probably damaging	Het
Loxl1	A	G	9: 58,220,006 (GRCm39)	L55P	probably damaging	Het
Map1a	A	G	2: 121,135,697 (GRCm39)	E1933G	probably damaging	Het
Matn2	T	A	15: 34,409,912 (GRCm39)	C447*	probably null	Het
Mmrn1	T	C	6: 60,950,134 (GRCm39)		probably null	Het
Or2a7	C	T	6: 43,151,646 (GRCm39)	S242F	probably damaging	Het
Or4a66	A	T	2: 88,531,049 (GRCm39)	I208N	possibly damaging	Het
Or4d1	A	T	11: 87,805,215 (GRCm39)	N172K	probably damaging	Het
Otor	A	G	2: 142,920,431 (GRCm39)	I4M	probably benign	Het
P2rx3	A	T	2: 84,865,591 (GRCm39)	V18E	probably damaging	Het
Pcdh7	T	C	5: 57,879,097 (GRCm39)	V884A	probably damaging	Het
Pcdhb4	T	A	18: 37,442,619 (GRCm39)	V643D	probably damaging	Het
Pelo	A	G	13: 115,225,930 (GRCm39)	S176P	possibly damaging	Het
Ppp2r3d	A	T	9: 101,089,183 (GRCm39)	V380E	probably benign	Het
Proc	T	A	18: 32,260,513 (GRCm39)	D204V	probably benign	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Resf1	T	C	6: 149,236,179 (GRCm39)	F1500L	probably damaging	Het
Rtl1	T	G	12: 109,558,087 (GRCm39)	T1251P	possibly damaging	Het
Sema6a	T	G	18: 47,414,405 (GRCm39)	I482L	probably benign	Het
Smpdl3a	T	A	10: 57,681,654 (GRCm39)		probably null	Het
Strc	T	A	2: 121,209,790 (GRCm39)	M178L	probably benign	Het
Taok1	A	T	11: 77,451,144 (GRCm39)	M312K	probably damaging	Het
Tle2	T	C	10: 81,416,750 (GRCm39)		probably null	Het
Tle3	A	G	9: 61,316,190 (GRCm39)	D296G	probably benign	Het
Trank1	A	G	9: 111,191,485 (GRCm39)	D498G	probably benign	Het
Vars1	C	A	17: 35,231,491 (GRCm39)	L672M	probably damaging	Het
Vps13d	G	A	4: 144,826,580 (GRCm39)	T2866I	probably damaging	Het
Zfp423	C	A	8: 88,508,860 (GRCm39)	E370*	probably null	Het
Zfp521	T	A	18: 13,978,612 (GRCm39)	K600N	probably damaging	Het
Zfp788	A	G	7: 41,298,572 (GRCm39)	K351E	probably benign	Het
Zfp963	A	T	8: 70,195,510 (GRCm39)		probably null	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	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
R2062:Ascc2	UTSW	11	4,631,496 (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
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'- ACATACTCCCTGTGGTGTGC -3'
(R):5'- CACTTCATCTTTAGGCAGCAC -3'

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

Posted On

2017-02-28