Incidental Mutation 'IGL01403:Ascc1'
ID 79732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ascc1
Ensembl Gene ENSMUSG00000044475
Gene Name activating signal cointegrator 1 complex subunit 1
Synonyms 1810015P09Rik, ASC1p50, CGI-18
Accession Numbers
Essential gene? Probably essential (E-score: 0.938) question?
Stock # IGL01403
Quality Score
Status
Chromosome 10
Chromosomal Location 60002805-60099988 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 60012458 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050516] [ENSMUST00000164083]
AlphaFold Q9D8Z1
Predicted Effect probably benign
Transcript: ENSMUST00000050516
SMART Domains Protein: ENSMUSP00000052351
Gene: ENSMUSG00000044475

DomainStartEndE-ValueType
KH 56 124 9.05e-6 SMART
Pfam:AKAP7_NLS 132 355 4.3e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164083
SMART Domains Protein: ENSMUSP00000126301
Gene: ENSMUSG00000044475

DomainStartEndE-ValueType
KH 56 124 9.05e-6 SMART
Pfam:AKAP7_NLS 132 355 3e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219778
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T C 2: 111,229,170 probably benign Het
Abcb5 A T 12: 118,872,867 L1103Q probably damaging Het
Adam12 T A 7: 133,919,610 Q605L probably benign Het
Adk A G 14: 21,234,915 K102R probably damaging Het
Afdn C T 17: 13,903,870 P1761S probably damaging Het
Aspdh A G 7: 44,466,559 probably null Het
Bbx T C 16: 50,202,513 I753V probably benign Het
Ccdc33 T C 9: 58,117,385 Y186C probably damaging Het
Ccdc78 T A 17: 25,788,244 probably null Het
Ckmt1 T C 2: 121,362,966 probably benign Het
Csf1r A G 18: 61,114,825 T322A probably benign Het
Dnah7b T C 1: 46,116,300 probably benign Het
Dr1 A G 5: 108,269,710 N41D possibly damaging Het
Ehmt1 G A 2: 24,839,626 T633I possibly damaging Het
Fgf7 T A 2: 126,035,940 Y76N probably damaging Het
Hmcn1 A T 1: 150,593,097 W5038R probably damaging Het
Ighv14-1 A G 12: 113,932,242 V21A probably damaging Het
Igkv5-37 T A 6: 69,963,436 I75F probably damaging Het
Inhbc T A 10: 127,370,099 I100F probably damaging Het
Irs3 A G 5: 137,645,319 F68L probably damaging Het
Itpr3 T A 17: 27,118,595 C2460S probably damaging Het
Krt34 A G 11: 100,038,290 C365R possibly damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Ly6g A G 15: 75,158,648 N82S probably damaging Het
Mrpl58 A T 11: 115,406,578 I72F probably damaging Het
Myo9a G A 9: 59,871,563 R1534H probably damaging Het
Npat T A 9: 53,555,129 F239L probably benign Het
Nsd2 A G 5: 33,885,378 probably benign Het
Nuggc T C 14: 65,623,186 V427A probably benign Het
Olfr476 A G 7: 107,967,621 T75A possibly damaging Het
Olfr690 G A 7: 105,329,398 R265C probably benign Het
Pde4a A T 9: 21,205,116 I467F probably damaging Het
Pkhd1l1 T A 15: 44,483,833 C198* probably null Het
Pla2r1 A G 2: 60,424,288 V1312A probably damaging Het
Pola2 T C 19: 5,959,093 H79R probably benign Het
Pramef20 A T 4: 144,377,133 M141K probably benign Het
Psen2 A T 1: 180,234,983 probably benign Het
Rnf213 A G 11: 119,443,300 K3112E probably damaging Het
Slc6a4 G T 11: 77,031,672 V630L probably benign Het
Smg1 A T 7: 118,158,132 probably benign Het
Tmc8 A G 11: 117,791,074 T510A possibly damaging Het
Usp18 T A 6: 121,268,668 H334Q possibly damaging Het
Vmn2r103 T C 17: 19,792,967 Y117H probably benign Het
Vps13b T A 15: 35,709,479 D1857E probably benign Het
Other mutations in Ascc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
Dagger UTSW 10 60013653 missense probably damaging 1.00
stiletto UTSW 10 60004819 start codon destroyed probably damaging 1.00
R1307:Ascc1 UTSW 10 60012499 missense probably benign 0.00
R1463:Ascc1 UTSW 10 60062516 missense probably benign 0.17
R2403:Ascc1 UTSW 10 60004841 missense probably benign 0.20
R4308:Ascc1 UTSW 10 60013612 missense probably benign 0.00
R4703:Ascc1 UTSW 10 60049802 missense probably damaging 1.00
R4704:Ascc1 UTSW 10 60049802 missense probably damaging 1.00
R4705:Ascc1 UTSW 10 60049802 missense probably damaging 1.00
R4916:Ascc1 UTSW 10 60004862 missense probably benign 0.01
R6906:Ascc1 UTSW 10 60004852 missense probably benign 0.01
R6944:Ascc1 UTSW 10 60013653 missense probably damaging 1.00
R7227:Ascc1 UTSW 10 60007738 missense probably benign 0.08
R7661:Ascc1 UTSW 10 60049807 missense probably damaging 1.00
R7766:Ascc1 UTSW 10 60004819 start codon destroyed probably damaging 1.00
R7940:Ascc1 UTSW 10 60012559 missense probably null 1.00
R8104:Ascc1 UTSW 10 60007729 missense probably benign
R8721:Ascc1 UTSW 10 60098106 missense possibly damaging 0.91
R9189:Ascc1 UTSW 10 60007823 missense probably benign 0.00
Z1176:Ascc1 UTSW 10 60007793 missense possibly damaging 0.56
Posted On 2013-11-05