Mutagenetix > Incidental Mutation

Incidental Mutation 'R4704:Ascc1'

356302

Institutional Source

Beutler Lab

Gene Symbol

Ascc1

Ensembl Gene

ENSMUSG00000044475

Gene Name

activating signal cointegrator 1 complex subunit 1

Synonyms

CGI-18, ASC1p50, 1810015P09Rik

MMRRC Submission

041952-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R4704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59838627-59935810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59885624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 225 (Y225C)

Ref Sequence

ENSEMBL: ENSMUSP00000126301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050516] [ENSMUST00000164083]

AlphaFold

Q9D8Z1

Predicted Effect

probably damaging
Transcript: ENSMUST00000050516
AA Change: Y225C

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

SMART Domains

Protein: ENSMUSP00000052351
Gene: ENSMUSG00000044475
AA Change: Y225C

Domain	Start	End	E-Value	Type
KH	56	124	9.05e-6	SMART
Pfam:AKAP7_NLS	132	355	4.3e-61	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164083
AA Change: Y225C

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

SMART Domains

Protein: ENSMUSP00000126301
Gene: ENSMUSG00000044475
AA Change: Y225C

Domain	Start	End	E-Value	Type
KH	56	124	9.05e-6	SMART
Pfam:AKAP7_NLS	132	355	3e-63	PFAM

Meta Mutation Damage Score

0.4455

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (89/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,959,259 (GRCm39)	M147K	probably damaging	Het
Abca13	A	G	11: 9,226,990 (GRCm39)	D582G	possibly damaging	Het
Abca2	T	C	2: 25,333,424 (GRCm39)	L1683P	probably damaging	Het
Adam39	A	G	8: 41,278,833 (GRCm39)	H408R	probably benign	Het
Adcy4	A	G	14: 56,012,482 (GRCm39)	S554P	possibly damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Ahnak	T	G	19: 8,989,622 (GRCm39)		probably benign	Het
Alkal2	T	A	12: 30,937,195 (GRCm39)	S109R	probably damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Arpc3	A	G	5: 122,538,471 (GRCm39)	M1V	probably null	Het
Ascc3	A	G	10: 50,535,110 (GRCm39)	I668V	probably benign	Het
Bdnf	T	A	2: 109,554,037 (GRCm39)	M137K	possibly damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Cds2	T	A	2: 132,142,522 (GRCm39)	Y239*	probably null	Het
Cpped1	G	A	16: 11,703,493 (GRCm39)		probably benign	Het
Ctu2	G	A	8: 123,206,042 (GRCm39)	R261Q	probably damaging	Het
Cux1	A	G	5: 136,278,055 (GRCm39)	V645A	probably benign	Het
Cyp4f13	A	G	17: 33,144,709 (GRCm39)	C401R	probably damaging	Het
Dpt	T	G	1: 164,646,518 (GRCm39)	Y162*	probably null	Het
Ednra	A	G	8: 78,394,592 (GRCm39)		probably benign	Het
Eepd1	A	G	9: 25,394,122 (GRCm39)	T129A	probably benign	Het
Eif2s1	A	G	12: 78,923,944 (GRCm39)	T134A	probably benign	Het
Eloa	A	G	4: 135,738,525 (GRCm39)	V145A	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Eng	T	C	2: 32,568,924 (GRCm39)	S484P	probably benign	Het
Eogt	A	T	6: 97,090,813 (GRCm39)	V442E	probably damaging	Het
Fam185a	C	T	5: 21,685,471 (GRCm39)		probably benign	Het
Gm4922	C	T	10: 18,660,567 (GRCm39)	V52I	probably benign	Het
Gnao1	A	G	8: 94,538,004 (GRCm39)	E14G	probably benign	Het
Gpr75	C	A	11: 30,841,110 (GRCm39)	A5D	probably benign	Het
Hbq1b	T	A	11: 32,237,448 (GRCm39)		probably benign	Het
Hdac7	G	A	15: 97,694,097 (GRCm39)	T724M	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,781 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kifc2	T	C	15: 76,547,177 (GRCm39)		probably null	Het
Kmt2c	G	A	5: 25,519,025 (GRCm39)	Q2362*	probably null	Het
Kntc1	G	A	5: 123,949,496 (GRCm39)	E1956K	probably damaging	Het
Lama3	T	C	18: 12,686,280 (GRCm39)	V2781A	probably benign	Het
Lipt2	A	G	7: 99,809,534 (GRCm39)	E207G	probably damaging	Het
Mag	A	T	7: 30,608,598 (GRCm39)	L172Q	probably damaging	Het
Map1b	A	T	13: 99,566,983 (GRCm39)	C1913S	unknown	Het
Mical3	A	G	6: 120,935,649 (GRCm39)	S1626P	probably benign	Het
Mslnl	G	T	17: 25,957,952 (GRCm39)	W65L	possibly damaging	Het
Muc20	G	T	16: 32,599,448 (GRCm39)	A3332S	possibly damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Nkx2-3	G	A	19: 43,601,123 (GRCm39)	E62K	probably damaging	Het
Or6c2	T	C	10: 129,362,171 (GRCm39)	L25P	possibly damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcna-ps2	T	A	19: 9,260,786 (GRCm39)	V15E	possibly damaging	Het
Plekhg3	G	T	12: 76,625,012 (GRCm39)	G1285W	probably damaging	Het
Pramel29	A	T	4: 143,935,162 (GRCm39)	I193N	probably damaging	Het
Procr	A	G	2: 155,596,258 (GRCm39)	S142G	probably damaging	Het
Ptpn3	A	T	4: 57,270,119 (GRCm39)	N14K	possibly damaging	Het
Rin1	C	A	19: 5,105,018 (GRCm39)	L693I	probably damaging	Het
Ripk4	C	A	16: 97,547,204 (GRCm39)	E290*	probably null	Het
Rnf213	A	G	11: 119,331,175 (GRCm39)	Y2128C	probably damaging	Het
Saal1	T	C	7: 46,349,164 (GRCm39)		probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Serpinf1	C	A	11: 75,301,867 (GRCm39)	A263S	probably damaging	Het
Sgo2b	A	T	8: 64,380,824 (GRCm39)	D669E	probably damaging	Het
Slc30a9	T	C	5: 67,499,616 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,112,430 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,475,638 (GRCm39)	C4918Y	probably damaging	Het
Szt2	A	G	4: 118,251,026 (GRCm39)	Y361H	probably damaging	Het
Tbc1d12	T	A	19: 38,889,781 (GRCm39)	W404R	probably damaging	Het
Tcf20	T	C	15: 82,735,928 (GRCm39)	E1841G	possibly damaging	Het
Tep1	T	C	14: 51,074,530 (GRCm39)	T1832A	probably benign	Het
Tmem132e	G	A	11: 82,334,357 (GRCm39)	A623T	probably damaging	Het
Tmem201	A	T	4: 149,811,774 (GRCm39)	F357Y	possibly damaging	Het
Trappc13	T	G	13: 104,303,329 (GRCm39)		probably benign	Het
Trav6-5	C	T	14: 53,728,883 (GRCm39)	Q47*	probably null	Het
Ubxn1	T	A	19: 8,849,399 (GRCm39)	D47E	probably benign	Het
Vmn2r45	G	T	7: 8,486,535 (GRCm39)	S251*	probably null	Het
Wnk1	A	G	6: 119,942,705 (GRCm39)	L774S	possibly damaging	Het
Zfp189	T	C	4: 49,530,081 (GRCm39)	S395P	probably damaging	Het

Other mutations in Ascc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Ascc1	APN	10	59,848,280 (GRCm39)	splice site	probably benign
Dagger	UTSW	10	59,849,475 (GRCm39)	missense	probably damaging	1.00
stiletto	UTSW	10	59,840,641 (GRCm39)	start codon destroyed	probably damaging	1.00
R1307:Ascc1	UTSW	10	59,848,321 (GRCm39)	missense	probably benign	0.00
R1463:Ascc1	UTSW	10	59,898,338 (GRCm39)	missense	probably benign	0.17
R2403:Ascc1	UTSW	10	59,840,663 (GRCm39)	missense	probably benign	0.20
R4308:Ascc1	UTSW	10	59,849,434 (GRCm39)	missense	probably benign	0.00
R4703:Ascc1	UTSW	10	59,885,624 (GRCm39)	missense	probably damaging	1.00
R4705:Ascc1	UTSW	10	59,885,624 (GRCm39)	missense	probably damaging	1.00
R4916:Ascc1	UTSW	10	59,840,684 (GRCm39)	missense	probably benign	0.01
R6906:Ascc1	UTSW	10	59,840,674 (GRCm39)	missense	probably benign	0.01
R6944:Ascc1	UTSW	10	59,849,475 (GRCm39)	missense	probably damaging	1.00
R7227:Ascc1	UTSW	10	59,843,560 (GRCm39)	missense	probably benign	0.08
R7661:Ascc1	UTSW	10	59,885,629 (GRCm39)	missense	probably damaging	1.00
R7766:Ascc1	UTSW	10	59,840,641 (GRCm39)	start codon destroyed	probably damaging	1.00
R7940:Ascc1	UTSW	10	59,848,381 (GRCm39)	missense	probably null	1.00
R8104:Ascc1	UTSW	10	59,843,551 (GRCm39)	missense	probably benign
R8721:Ascc1	UTSW	10	59,933,928 (GRCm39)	missense	possibly damaging	0.91
R9189:Ascc1	UTSW	10	59,843,645 (GRCm39)	missense	probably benign	0.00
Z1176:Ascc1	UTSW	10	59,843,615 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- GGACAGCTAGACTATGTTGCTG -3'
(R):5'- AACAGTCACAATCTGTCTTCTCTG -3'

Sequencing Primer
(F):5'- GCTAGACTATGTTGCTGGAAAAACCC -3'
(R):5'- CTGGTGCAAACATGGAATCCTAGTAC -3'

Posted On

2015-10-21