Mutagenetix > Incidental Mutation

Incidental Mutation 'R5859:Ascc2'

455077

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

044071-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4587747-4635699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4608284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 227 (G227R)

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: G227R

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000063272
Gene: ENSMUSG00000020412
AA Change: G227R

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: G227R

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105556
Gene: ENSMUSG00000020412
AA Change: G227R

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

Validation Efficiency

93% (70/75)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,303,477 (GRCm39)	V150E	probably benign	Het
Alg11	A	G	8: 22,555,857 (GRCm39)	K373E	probably benign	Het
Arl14ep	C	T	2: 106,799,398 (GRCm39)		probably benign	Het
Ash1l	C	T	3: 88,976,300 (GRCm39)	P2627S	probably damaging	Het
Btla	T	G	16: 45,059,402 (GRCm39)		probably null	Het
Btnl10	C	T	11: 58,813,138 (GRCm39)	P256S	probably benign	Het
Cep162	C	T	9: 87,086,145 (GRCm39)	A1060T	probably damaging	Het
Cfap54	T	A	10: 92,852,386 (GRCm39)	K907*	probably null	Het
Chpf	A	T	1: 75,452,072 (GRCm39)	F461I	probably damaging	Het
Chrdl2	A	G	7: 99,670,114 (GRCm39)	Y79C	probably damaging	Het
Copb2	G	A	9: 98,450,161 (GRCm39)	C40Y	probably benign	Het
Cyfip1	T	C	7: 55,574,929 (GRCm39)	L1060P	probably damaging	Het
Drg1	G	A	11: 3,209,273 (GRCm39)		probably benign	Het
Erich3	A	G	3: 154,468,134 (GRCm39)	D862G	possibly damaging	Het
Flii	G	T	11: 60,607,137 (GRCm39)	Y946*	probably null	Het
Glt8d2	T	C	10: 82,507,915 (GRCm39)	M1V	probably null	Het
Gm21136	T	A	7: 38,567,165 (GRCm39)		noncoding transcript	Het
Gramd1c	T	C	16: 43,812,454 (GRCm39)	T393A	possibly damaging	Het
Gucy2d	T	A	7: 98,101,090 (GRCm39)	I471N	probably benign	Het
Hps3	G	A	3: 20,063,034 (GRCm39)	T711M	probably benign	Het
Hs3st4	A	T	7: 123,582,831 (GRCm39)	D143V	probably benign	Het
Kif17	T	A	4: 138,018,744 (GRCm39)	M461K	possibly damaging	Het
Klhdc7a	T	A	4: 139,694,885 (GRCm39)	S21C	probably damaging	Het
Klk15	G	A	7: 43,587,800 (GRCm39)	R76H	probably benign	Het
Lnpk	G	A	2: 74,399,372 (GRCm39)	T57I	possibly damaging	Het
Ltbp2	A	G	12: 84,840,837 (GRCm39)	V999A	possibly damaging	Het
Ltbr	T	C	6: 125,289,771 (GRCm39)	H141R	probably damaging	Het
Lvrn	T	C	18: 47,026,816 (GRCm39)	F805L	probably damaging	Het
Ms4a13	A	T	19: 11,161,280 (GRCm39)	C86*	probably null	Het
Ncbp1	A	G	4: 46,163,026 (GRCm39)	N480S	probably benign	Het
Nelfcd	T	G	2: 174,268,856 (GRCm39)	*592G	probably null	Het
Neurog2	T	C	3: 127,427,664 (GRCm39)	V96A	probably benign	Het
Nod1	A	T	6: 54,907,162 (GRCm39)	W902R	probably benign	Het
Or12d13	T	C	17: 37,647,260 (GRCm39)	I288V	possibly damaging	Het
Or4k15c	T	A	14: 50,321,484 (GRCm39)	Y218F	probably damaging	Het
Or55b3	T	C	7: 102,126,957 (GRCm39)	Y40C	possibly damaging	Het
Or6d13	T	C	6: 116,517,861 (GRCm39)	L149P	probably damaging	Het
Pcdha11	A	T	18: 37,140,336 (GRCm39)	H655L	probably damaging	Het
Plpp7	A	G	2: 31,985,996 (GRCm39)	E58G	probably benign	Het
Psph	A	T	5: 129,867,685 (GRCm39)		probably benign	Het
Rab11fip1	A	C	8: 27,644,748 (GRCm39)	S346A	probably damaging	Het
Rreb1	C	A	13: 38,131,384 (GRCm39)	P1513T	probably benign	Het
Rreb1	C	T	13: 38,131,385 (GRCm39)	P1513L	probably benign	Het
Rsf1	C	T	7: 97,334,766 (GRCm39)	R1300C	probably damaging	Het
Scap	A	G	9: 110,203,115 (GRCm39)	N263S	probably benign	Het
Sec24d	A	T	3: 123,072,961 (GRCm39)		probably benign	Het
Slain2	T	C	5: 73,105,888 (GRCm39)		probably benign	Het
Slc6a18	G	T	13: 73,816,278 (GRCm39)	T367N	probably benign	Het
Slk	T	A	19: 47,597,481 (GRCm39)	D96E	probably benign	Het
Spag5	G	A	11: 78,204,360 (GRCm39)	V514I	probably benign	Het
St8sia2	T	C	7: 73,616,654 (GRCm39)	D107G	probably damaging	Het
Tgfbr3	T	A	5: 107,288,381 (GRCm39)	I427F	probably benign	Het
Tlr2	T	G	3: 83,743,810 (GRCm39)	T758P	possibly damaging	Het
Tmem270	A	G	5: 134,931,738 (GRCm39)	V68A	probably benign	Het
Vmn2r106	T	A	17: 20,505,583 (GRCm39)	H37L	possibly damaging	Het
Vmn2r27	T	G	6: 124,177,647 (GRCm39)	R452S	probably damaging	Het
Wdr5	A	G	2: 27,423,362 (GRCm39)	Y252C	probably damaging	Het
Zswim9	C	T	7: 12,995,371 (GRCm39)	V262M	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
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'- TGCTGTCTCTAGGTCCTAAGGC -3'
(R):5'- TGAAAAGCCTCTTAGCCCAC -3'

Sequencing Primer
(F):5'- CTAAGGCAGTTCTTGGGTCACC -3'
(R):5'- GCCTCTTAGCCCACAGGATAG -3'

Posted On

2017-02-10