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

1700011I11Rik, ASC1p100, 2610034L15Rik

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

4637747-4685699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4658284 bp (GRCm38)

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: 24,813,461	V150E	probably benign	Het
Alg11	A	G	8: 22,065,841	K373E	probably benign	Het
Arl14ep	C	T	2: 106,969,053		probably benign	Het
Ash1l	C	T	3: 89,068,993	P2627S	probably damaging	Het
Btla	T	G	16: 45,239,039		probably null	Het
Btnl10	C	T	11: 58,922,312	P256S	probably benign	Het
Cep162	C	T	9: 87,204,092	A1060T	probably damaging	Het
Cfap54	T	A	10: 93,016,524	K907*	probably null	Het
Chpf	A	T	1: 75,475,428	F461I	probably damaging	Het
Chrdl2	A	G	7: 100,020,907	Y79C	probably damaging	Het
Copb2	G	A	9: 98,568,108	C40Y	probably benign	Het
Cyfip1	T	C	7: 55,925,181	L1060P	probably damaging	Het
Drg1	G	A	11: 3,259,273		probably benign	Het
Erich3	A	G	3: 154,762,497	D862G	possibly damaging	Het
Flii	G	T	11: 60,716,311	Y946*	probably null	Het
Glt8d2	T	C	10: 82,672,081	M1V	probably null	Het
Gm21136	T	A	7: 38,867,741		noncoding transcript	Het
Gramd1c	T	C	16: 43,992,091	T393A	possibly damaging	Het
Gucy2d	T	A	7: 98,451,883	I471N	probably benign	Het
Hps3	G	A	3: 20,008,870	T711M	probably benign	Het
Hs3st4	A	T	7: 123,983,608	D143V	probably benign	Het
Kif17	T	A	4: 138,291,433	M461K	possibly damaging	Het
Klhdc7a	T	A	4: 139,967,574	S21C	probably damaging	Het
Klk15	G	A	7: 43,938,376	R76H	probably benign	Het
Lnpk	G	A	2: 74,569,028	T57I	possibly damaging	Het
Ltbp2	A	G	12: 84,794,063	V999A	possibly damaging	Het
Ltbr	T	C	6: 125,312,808	H141R	probably damaging	Het
Lvrn	T	C	18: 46,893,749	F805L	probably damaging	Het
Ms4a13	A	T	19: 11,183,916	C86*	probably null	Het
Ncbp1	A	G	4: 46,163,026	N480S	probably benign	Het
Nelfcd	T	G	2: 174,427,063	*592G	probably null	Het
Neurog2	T	C	3: 127,634,015	V96A	probably benign	Het
Nod1	A	T	6: 54,930,177	W902R	probably benign	Het
Olfr103	T	C	17: 37,336,369	I288V	possibly damaging	Het
Olfr213	T	C	6: 116,540,900	L149P	probably damaging	Het
Olfr543	T	C	7: 102,477,750	Y40C	possibly damaging	Het
Olfr726	T	A	14: 50,084,027	Y218F	probably damaging	Het
Pcdha11	A	T	18: 37,007,283	H655L	probably damaging	Het
Plpp7	A	G	2: 32,095,984	E58G	probably benign	Het
Psph	A	T	5: 129,790,621		probably benign	Het
Rab11fip1	A	C	8: 27,154,720	S346A	probably damaging	Het
Rreb1	C	A	13: 37,947,408	P1513T	probably benign	Het
Rreb1	C	T	13: 37,947,409	P1513L	probably benign	Het
Rsf1	C	T	7: 97,685,559	R1300C	probably damaging	Het
Scap	A	G	9: 110,374,047	N263S	probably benign	Het
Sec24d	A	T	3: 123,279,312		probably benign	Het
Slain2	T	C	5: 72,948,545		probably benign	Het
Slc6a18	G	T	13: 73,668,159	T367N	probably benign	Het
Slk	T	A	19: 47,609,042	D96E	probably benign	Het
Spag5	G	A	11: 78,313,534	V514I	probably benign	Het
St8sia2	T	C	7: 73,966,906	D107G	probably damaging	Het
Tgfbr3	T	A	5: 107,140,515	I427F	probably benign	Het
Tlr2	T	G	3: 83,836,503	T758P	possibly damaging	Het
Tmem270	A	G	5: 134,902,884	V68A	probably benign	Het
Vmn2r106	T	A	17: 20,285,321	H37L	possibly damaging	Het
Vmn2r27	T	G	6: 124,200,688	R452S	probably damaging	Het
Wdr5	A	G	2: 27,533,350	Y252C	probably damaging	Het
Zswim9	C	T	7: 13,261,445	V262M	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
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'- TGCTGTCTCTAGGTCCTAAGGC -3'
(R):5'- TGAAAAGCCTCTTAGCCCAC -3'

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

Posted On

2017-02-10