Incidental Mutation 'R7227:Ascc1'
ID 562237
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 045299-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R7227 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 59838627-59935810 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59843560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 41 (Y41N)
Ref Sequence ENSEMBL: ENSMUSP00000052351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020307] [ENSMUST00000050516] [ENSMUST00000164083] [ENSMUST00000182116] [ENSMUST00000182152] [ENSMUST00000182898] [ENSMUST00000182912]
AlphaFold Q9D8Z1
Predicted Effect probably benign
Transcript: ENSMUST00000020307
SMART Domains Protein: ENSMUSP00000020307
Gene: ENSMUSG00000020107

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000050516
AA Change: Y41N

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000052351
Gene: ENSMUSG00000044475
AA Change: Y41N

DomainStartEndE-ValueType
KH 56 124 9.05e-6 SMART
Pfam:AKAP7_NLS 132 355 4.3e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164083
AA Change: Y41N

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000126301
Gene: ENSMUSG00000044475
AA Change: Y41N

DomainStartEndE-ValueType
KH 56 124 9.05e-6 SMART
Pfam:AKAP7_NLS 132 355 3e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182116
Predicted Effect probably benign
Transcript: ENSMUST00000182152
SMART Domains Protein: ENSMUSP00000138579
Gene: ENSMUSG00000020107

DomainStartEndE-ValueType
low complexity region 21 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182898
SMART Domains Protein: ENSMUSP00000138112
Gene: ENSMUSG00000020107

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182912
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (57/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,952,449 (GRCm39) L344H probably damaging Het
Abcb1b T A 5: 8,875,593 (GRCm39) S589T probably damaging Het
Acsm2 A C 7: 119,190,556 (GRCm39) I520L probably benign Het
Ap2a2 T C 7: 141,200,784 (GRCm39) Y544H probably damaging Het
Bend3 T A 10: 43,387,401 (GRCm39) L598Q probably damaging Het
Cfap74 T G 4: 155,545,405 (GRCm39) Y1108* probably null Het
Cxcl17 C A 7: 25,102,319 (GRCm39) R41S probably damaging Het
Cyp2c69 C A 19: 39,869,610 (GRCm39) M136I possibly damaging Het
Dnah2 A G 11: 69,312,222 (GRCm39) Y4370H probably damaging Het
Dzip3 T A 16: 48,771,932 (GRCm39) Q579L probably damaging Het
Enpp3 C T 10: 24,693,742 (GRCm39) M195I unknown Het
Esyt2 A G 12: 116,305,745 (GRCm39) D325G probably damaging Het
Fat1 T G 8: 45,463,646 (GRCm39) I1396S probably benign Het
Gigyf1 T A 5: 137,522,085 (GRCm39) I661K unknown Het
Gja1 T A 10: 56,263,752 (GRCm39) L37Q probably damaging Het
Hivep1 T C 13: 42,310,387 (GRCm39) S876P probably benign Het
Hk3 C T 13: 55,160,053 (GRCm39) R362H probably benign Het
Ier3ip1 T A 18: 77,027,330 (GRCm39) M53K probably benign Het
Klhl5 T C 5: 65,298,631 (GRCm39) S137P probably benign Het
Kremen2 G T 17: 23,963,573 (GRCm39) Y70* probably null Het
Lag3 C T 6: 124,885,457 (GRCm39) G308S possibly damaging Het
Mab21l4 G T 1: 93,079,736 (GRCm39) N451K probably benign Het
Map4k2 T A 19: 6,396,624 (GRCm39) L542Q probably damaging Het
Mef2d G A 3: 88,065,514 (GRCm39) probably null Het
Mkrn3 C A 7: 62,069,415 (GRCm39) R125S probably benign Het
Mpp3 T A 11: 101,895,904 (GRCm39) Y457F possibly damaging Het
Mrpl12 T A 11: 120,379,178 (GRCm39) I175N probably damaging Het
Mybbp1a G T 11: 72,338,585 (GRCm39) K728N possibly damaging Het
Nfkb1 C T 3: 135,332,420 (GRCm39) V112M probably damaging Het
Nucb2 A T 7: 116,125,311 (GRCm39) D123V probably damaging Het
Or12j2 A G 7: 139,915,534 (GRCm39) probably benign Het
Orc3 T C 4: 34,572,542 (GRCm39) T629A probably benign Het
Pdk1 T A 2: 71,714,245 (GRCm39) N218K possibly damaging Het
Plce1 A G 19: 38,715,346 (GRCm39) T1298A probably benign Het
Ppan T A 9: 20,799,496 (GRCm39) probably benign Het
Rap1gds1 C T 3: 138,663,228 (GRCm39) G373R probably damaging Het
Scn2a A C 2: 65,582,367 (GRCm39) I1572L probably damaging Het
Sec16a A T 2: 26,328,935 (GRCm39) Y1027N probably benign Het
Serpinb3a T A 1: 106,979,359 (GRCm39) T48S probably damaging Het
Slc30a8 A G 15: 52,195,032 (GRCm39) M264V probably benign Het
Slc44a3 A T 3: 121,303,879 (GRCm39) C286S possibly damaging Het
Slc8a2 T C 7: 15,878,906 (GRCm39) I464T possibly damaging Het
Smco1 T C 16: 32,092,833 (GRCm39) M168T possibly damaging Het
Spns2 A T 11: 72,349,513 (GRCm39) Y246* probably null Het
Ssbp2 T C 13: 91,823,244 (GRCm39) M213T probably benign Het
Stk40 G T 4: 126,017,559 (GRCm39) A29S probably benign Het
Thrap3 A T 4: 126,067,296 (GRCm39) F683I probably damaging Het
Tmc5 A G 7: 118,269,889 (GRCm39) T880A possibly damaging Het
Trim38 T A 13: 23,969,946 (GRCm39) N168K possibly damaging Het
Ube2d1 T A 10: 71,091,702 (GRCm39) Y134F possibly damaging Het
Vmn1r67 T A 7: 10,181,475 (GRCm39) Y246* probably null Het
Vmn2r18 T C 5: 151,496,264 (GRCm39) T485A probably damaging Het
Wrn T A 8: 33,738,974 (GRCm39) I1285F probably damaging Het
Xrcc1 C A 7: 24,246,757 (GRCm39) H8Q probably damaging Het
Zkscan4 T C 13: 21,668,413 (GRCm39) V317A probably benign Het
Other mutations in Ascc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCAGGCACCCTAACTTCGTAG -3'
(R):5'- CCACCATAAGTAAGTGTGGAAGAC -3'

Sequencing Primer
(F):5'- ACATTCTGGGCTTCTGAGAC -3'
(R):5'- AAGACTGAAGGGCTGGCTCC -3'
Posted On 2019-06-26