Mutagenetix > Incidental Mutation

Incidental Mutation 'R7875:Ascc2'

608395

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7875 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4637747-4685699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4668389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 328 (N328S)

Ref Sequence

ENSEMBL: ENSMUSP00000063272 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070257] [ENSMUST00000109930]

AlphaFold

Q91WR3

Predicted Effect

probably benign
Transcript: ENSMUST00000070257
AA Change: N328S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000063272
Gene: ENSMUSG00000020412
AA Change: N328S

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: N328S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105556
Gene: ENSMUSG00000020412
AA Change: N328S

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,209,962	I1216V	probably benign	Het
4932415D10Rik	T	C	10: 82,287,622	S3185G	possibly damaging	Het
Acap2	A	T	16: 31,139,641	F102I	probably damaging	Het
Acp7	A	T	7: 28,614,727	Y348N	probably damaging	Het
Adgre4	A	T	17: 55,792,016	D174V	probably benign	Het
Ahdc1	A	G	4: 133,063,850	T801A	possibly damaging	Het
Aldh1a7	A	C	19: 20,715,979	V192G	possibly damaging	Het
Anp32b	T	G	4: 46,451,301	D2E	probably benign	Het
Arhgef11	A	T	3: 87,684,501	D53V	probably damaging	Het
Arid5b	T	C	10: 68,128,941	N300S	probably benign	Het
Aspm	A	T	1: 139,455,134	Q68L	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccser1	A	T	6: 61,311,948	H365L	probably benign	Het
Col1a2	T	A	6: 4,518,500	N213K	unknown	Het
Col7a1	T	C	9: 108,958,695	V681A	unknown	Het
Dock9	A	T	14: 121,625,984	Y792*	probably null	Het
Fam241b	A	T	10: 62,134,492	S10R		Het
Gab1	C	T	8: 80,788,766	D308N	probably damaging	Het
Gdf11	C	T	10: 128,886,341	R215H	probably benign	Het
Gpc1	T	C	1: 92,855,248		probably null	Het
Hnf4a	G	T	2: 163,559,060	E200*	probably null	Het
Ints2	T	C	11: 86,213,062	T1086A	probably damaging	Het
Kbtbd7	A	G	14: 79,427,366	T213A	probably benign	Het
Kcnt2	A	G	1: 140,573,647	D917G	probably damaging	Het
Kdm5a	C	A	6: 120,399,018	Y578*	probably null	Het
Lrrtm4	A	T	6: 80,022,360	T252S	possibly damaging	Het
Mamdc4	C	T	2: 25,568,665	W305*	probably null	Het
Mzb1	A	G	18: 35,647,860	I125T	possibly damaging	Het
Nfrkb	A	G	9: 31,410,154	T716A	possibly damaging	Het
Olfr1008	G	A	2: 85,689,494	E22K	probably benign	Het
Olfr1310	A	G	2: 112,008,847	V113A	probably benign	Het
Olfr1368	T	A	13: 21,142,923	I45F	probably damaging	Het
Olfr582	A	G	7: 103,041,853	M120V	probably damaging	Het
Plcxd2	G	A	16: 46,009,702	A52V	possibly damaging	Het
Poteg	C	T	8: 27,449,914	P95L	probably benign	Het
Prdm9	A	T	17: 15,553,542	Y322*	probably null	Het
Rab11fip2	G	C	19: 59,937,223	I187M	possibly damaging	Het
Ranbp2	G	T	10: 58,478,455	E1666*	probably null	Het
Rin3	T	C	12: 102,369,476	S549P	probably damaging	Het
Scn10a	C	T	9: 119,635,442		probably null	Het
Scn3a	A	G	2: 65,497,482	F888S	probably damaging	Het
Sik3	T	A	9: 46,123,230	I96N	probably damaging	Het
Slc12a7	T	A	13: 73,788,604	C128S	possibly damaging	Het
Syde2	A	G	3: 146,020,265	E1304G	probably damaging	Het
Tagln	T	C	9: 45,930,382	I199V	probably damaging	Het
Tarsl2	T	A	7: 65,678,151	V536E	probably benign	Het
Tas2r137	A	G	6: 40,492,163	K309R	probably damaging	Het
Thra	A	T	11: 98,768,431	D462V	probably damaging	Het
Topaz1	A	G	9: 122,749,587	T521A	possibly damaging	Het
Uhrf1	A	G	17: 56,312,884	N265S	possibly damaging	Het
Upk3b	A	T	5: 136,040,203	Y142F	probably benign	Het
Vmn1r219	T	C	13: 23,163,193	V184A	possibly damaging	Het
Vmn1r58	T	C	7: 5,410,754	D159G	probably damaging	Het
Vnn3	C	A	10: 23,867,248	A452D	possibly damaging	Het
Wscd1	T	A	11: 71,788,734	Y478N	probably damaging	Het
Xrcc5	C	T	1: 72,329,931	R315C	probably damaging	Het
Zkscan5	A	C	5: 145,220,866	H726P	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
R7569:Ascc2	UTSW	11	4679506	missense	probably damaging	1.00
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'- GTGACCTTTAAGACCACCGC -3'
(R):5'- ATGAAGCCTTGAATGTTGTCAC -3'

Sequencing Primer
(F):5'- TTTAAGACCACCGCAACTCTGGG -3'
(R):5'- GAAGCCTTGAATGTTGTCACAGCTAG -3'

Posted On

2019-12-20