Mutagenetix > Incidental Mutation

Incidental Mutation 'R7940:Ascc1'

649014

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

045986-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R7940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59838627-59935810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59848381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 103 (V103M)

Ref Sequence

ENSEMBL: ENSMUSP00000052351 (fasta)

Gene Model

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

AlphaFold

Q9D8Z1

Predicted Effect

probably null
Transcript: ENSMUST00000050516
AA Change: V103M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052351
Gene: ENSMUSG00000044475
AA Change: V103M

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 null
Transcript: ENSMUST00000164083
AA Change: V103M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126301
Gene: ENSMUSG00000044475
AA Change: V103M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,952,767 (GRCm39)	M238T	probably benign	Het
Acacb	C	T	5: 114,304,108 (GRCm39)	S177F	possibly damaging	Het
Afap1l2	A	G	19: 56,902,597 (GRCm39)	V822A	probably damaging	Het
Alpk3	C	T	7: 80,743,693 (GRCm39)	P1170L	probably damaging	Het
Aox3	A	G	1: 58,227,596 (GRCm39)	I1234V	probably damaging	Het
Brca2	C	G	5: 150,462,198 (GRCm39)	T654S	probably benign	Het
Cblb	T	C	16: 51,972,899 (GRCm39)	F410S	probably damaging	Het
Cep95	T	A	11: 106,686,974 (GRCm39)	N94K	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cpe	T	A	8: 65,047,945 (GRCm39)	S440C	probably damaging	Het
Cspg4	C	T	9: 56,795,381 (GRCm39)	Q1039*	probably null	Het
Cul5	A	T	9: 53,535,069 (GRCm39)	S612T	probably benign	Het
Dapl1	T	C	2: 59,315,112 (GRCm39)		probably null	Het
Deptor	C	T	15: 55,072,244 (GRCm39)	T241M	probably benign	Het
Dnaaf1	A	G	8: 120,309,454 (GRCm39)	T181A	possibly damaging	Het
Dnajc11	G	T	4: 152,053,045 (GRCm39)	Q156H	probably benign	Het
Dst	T	C	1: 34,206,757 (GRCm39)	V975A	possibly damaging	Het
Elf3	T	A	1: 135,184,866 (GRCm39)	S107C	probably damaging	Het
Enpp2	T	A	15: 54,770,324 (GRCm39)	D105V	probably damaging	Het
Fgd6	G	A	10: 93,956,344 (GRCm39)	V1008I	probably benign	Het
Frmpd2	C	T	14: 33,276,850 (GRCm39)	R1157*	probably null	Het
Gabrg2	A	C	11: 41,858,474 (GRCm39)	V218G	probably benign	Het
Gdpgp1	C	T	7: 79,888,953 (GRCm39)	A328V	probably damaging	Het
Glis1	C	G	4: 107,489,571 (GRCm39)	F719L	probably damaging	Het
Glis1	A	T	4: 107,489,572 (GRCm39)	N720Y	probably damaging	Het
Grin2c	G	T	11: 115,146,107 (GRCm39)	A546D	probably damaging	Het
Gtf3c5	G	A	2: 28,458,592 (GRCm39)	T433I	possibly damaging	Het
Jmjd6	C	A	11: 116,734,055 (GRCm39)		probably benign	Het
Kctd14	T	C	7: 97,106,891 (GRCm39)	S49P	probably damaging	Het
Lamc2	T	A	1: 153,006,521 (GRCm39)	K877*	probably null	Het
Lgr4	T	A	2: 109,836,858 (GRCm39)	S397R	probably damaging	Het
Lrp2	A	T	2: 69,262,541 (GRCm39)	I4420N	possibly damaging	Het
Lyn	A	G	4: 3,783,089 (GRCm39)	K441E	possibly damaging	Het
Minpp1	A	T	19: 32,463,359 (GRCm39)	S7C	possibly damaging	Het
Mrps9	T	A	1: 42,901,808 (GRCm39)	D105E	probably damaging	Het
Ncoa1	C	A	12: 4,363,095 (GRCm39)	A247S	possibly damaging	Het
Or52b4i	G	A	7: 102,191,515 (GRCm39)	R124H	possibly damaging	Het
Or8c15	T	C	9: 38,120,496 (GRCm39)	V47A	probably benign	Het
Pabir1	G	A	19: 24,454,552 (GRCm39)	R57W	probably benign	Het
Pakap	A	G	4: 57,883,026 (GRCm39)	K790E	probably damaging	Het
Pcdh15	G	A	10: 74,430,022 (GRCm39)	V1250I	probably damaging	Het
Pcdha12	A	T	18: 37,153,409 (GRCm39)	T43S	probably damaging	Het
Pkn2	G	A	3: 142,516,480 (GRCm39)	R549C	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Polq	T	A	16: 36,881,004 (GRCm39)	M1056K	probably benign	Het
Ppp1r12b	A	T	1: 134,803,793 (GRCm39)	N455K	probably benign	Het
Rhbdf1	T	A	11: 32,166,258 (GRCm39)	M1L	possibly damaging	Het
Rspry1	G	T	8: 95,349,635 (GRCm39)	V8L	probably benign	Het
Slc6a20b	A	G	9: 123,436,666 (GRCm39)	V249A	probably damaging	Het
Smok2b	A	T	17: 13,455,046 (GRCm39)	H402L	possibly damaging	Het
Supt20	A	T	3: 54,620,620 (GRCm39)	N393I	probably benign	Het
Tcp11l1	T	C	2: 104,528,993 (GRCm39)	K102E	probably damaging	Het
Tpbgl	T	C	7: 99,274,798 (GRCm39)	Y353C	probably damaging	Het
Usp24	A	T	4: 106,287,741 (GRCm39)	Q2465L	probably damaging	Het
Vmn2r116	T	A	17: 23,605,946 (GRCm39)	M286K	probably damaging	Het
Wnt16	C	A	6: 22,291,188 (GRCm39)	N205K	possibly damaging	Het
Xkr7	C	A	2: 152,874,135 (GRCm39)	F67L	probably damaging	Het
Zfp473	T	G	7: 44,384,000 (GRCm39)	E111A	probably damaging	Het
Zfp74	T	C	7: 29,631,867 (GRCm39)	K126E	probably benign	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
R4704: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
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'- CCATGAGTCCTAATTACATGGTTTTCT -3'
(R):5'- AGATCAATCTCTGCTTCGTCAT -3'

Sequencing Primer
(F):5'- CCATGTGGAACGTAAGC -3'
(R):5'- ACCTGGGCTATATGACACTCTTGAG -3'

Posted On

2020-09-15