Mutagenetix > Incidental Mutation

Incidental Mutation 'R7661:Ascc1'

591578

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

045736-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R7661 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59838627-59935810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 59885629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 227 (N227H)

Ref Sequence

ENSEMBL: ENSMUSP00000052351 (fasta)

Gene Model

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

AlphaFold

Q9D8Z1

Predicted Effect

probably damaging
Transcript: ENSMUST00000050516
AA Change: N227H

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

SMART Domains

Protein: ENSMUSP00000052351
Gene: ENSMUSG00000044475
AA Change: N227H

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: N227H

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

SMART Domains

Protein: ENSMUSP00000126301
Gene: ENSMUSG00000044475
AA Change: N227H

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (50/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	A	T	12: 107,455,215 (GRCm39)	K100N	unknown	Het
Abi3bp	T	A	16: 56,453,263 (GRCm39)		probably null	Het
Akr1c20	T	C	13: 4,558,218 (GRCm39)	D210G	probably benign	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Atp5f1a	G	T	18: 77,861,802 (GRCm39)	A18S	possibly damaging	Het
Bcl2l13	A	G	6: 120,842,558 (GRCm39)	T84A	possibly damaging	Het
Blmh	T	A	11: 76,877,341 (GRCm39)	V419D	probably damaging	Het
Cacna1d	G	A	14: 29,769,177 (GRCm39)	P1918S	probably benign	Het
Calr4	T	C	4: 109,110,951 (GRCm39)	V339A	probably benign	Het
Capza3	C	A	6: 139,987,498 (GRCm39)	D32E	probably benign	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cldn20	T	A	17: 3,583,133 (GRCm39)	M102K	possibly damaging	Het
Dennd1a	T	C	2: 37,734,841 (GRCm39)	Q479R	probably benign	Het
Dpp10	A	T	1: 123,312,681 (GRCm39)	I432N	probably damaging	Het
Dst	T	A	1: 34,295,434 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,617,503 (GRCm39)	D741E	probably benign	Het
Fam135a	C	T	1: 24,111,843 (GRCm39)		probably null	Het
Fam47e	C	T	5: 92,735,384 (GRCm39)	L206F	probably damaging	Het
Focad	G	A	4: 88,221,772 (GRCm39)	R714H	unknown	Het
Hace1	T	G	10: 45,481,649 (GRCm39)	V124G	probably damaging	Het
Ifit1bl2	T	A	19: 34,596,428 (GRCm39)	Y396F	probably damaging	Het
Il22ra2	A	G	10: 19,497,826 (GRCm39)	I13M	probably benign	Het
Kif21a	A	G	15: 90,865,122 (GRCm39)	F517L	possibly damaging	Het
Lrrc4	T	C	6: 28,829,762 (GRCm39)	T618A	probably benign	Het
Mdn1	A	G	4: 32,691,229 (GRCm39)	T952A	probably benign	Het
Mindy3	A	T	2: 12,402,328 (GRCm39)	I208K	probably damaging	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mycbp2	A	G	14: 103,450,059 (GRCm39)	I1744T	probably damaging	Het
Nanog	A	T	6: 122,690,431 (GRCm39)	R279W	probably damaging	Het
Ncoa2	T	A	1: 13,244,761 (GRCm39)	T646S	probably damaging	Het
Ndufa5	A	G	6: 24,518,724 (GRCm39)	*117R	probably null	Het
Nudt18	A	T	14: 70,817,276 (GRCm39)	E293D	probably benign	Het
Or1e22	A	G	11: 73,377,426 (GRCm39)	S75P	probably damaging	Het
Or51aa2	A	T	7: 103,187,826 (GRCm39)	V205E	probably damaging	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Pih1d2	T	C	9: 50,529,558 (GRCm39)		probably null	Het
Ppp2r3d	A	G	9: 124,442,696 (GRCm38)	F17L		Het
Ptprk	T	C	10: 28,342,036 (GRCm39)	I481T	probably benign	Het
Pygo2	T	C	3: 89,338,038 (GRCm39)		probably null	Het
Raet1d	T	C	10: 22,248,156 (GRCm39)	S225P	possibly damaging	Het
Rnf24	T	C	2: 131,164,135 (GRCm39)		probably benign	Het
Ror1	A	G	4: 100,298,687 (GRCm39)	S687G	probably damaging	Het
Rsph9	A	G	17: 46,446,013 (GRCm39)	S186P	probably damaging	Het
Sash1	C	T	10: 8,605,155 (GRCm39)	M1078I	probably benign	Het
Scd4	C	A	19: 44,327,510 (GRCm39)	D195E	probably benign	Het
Spopfm3	C	T	3: 94,105,709 (GRCm39)	T9I	probably damaging	Het
Syn3	A	G	10: 85,904,940 (GRCm39)	C348R	probably damaging	Het
Uspl1	T	C	5: 149,151,827 (GRCm39)	F1009S	probably benign	Het
Vmn1r2	T	A	4: 3,172,149 (GRCm39)	F23I	probably benign	Het
Vmn1r257	A	G	7: 22,391,229 (GRCm39)	S172P	probably benign	Het
Vmn2r-ps158	T	A	7: 42,672,582 (GRCm39)	N72K	probably benign	Het
Zfp747l1	A	T	7: 126,984,135 (GRCm39)	C322*	probably null	Het
Zfp839	C	T	12: 110,835,226 (GRCm39)	T827I	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
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'- AGGACAGCTAGACTATGTTGCTG -3'
(R):5'- AACAGTCACAATCTGTCTTCTCTG -3'

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

Posted On

2019-11-12