Incidental Mutation 'IGL01915:Abt1'
ID179904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abt1
Ensembl Gene ENSMUSG00000036376
Gene Nameactivator of basal transcription 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.964) question?
Stock #IGL01915
Quality Score
Status
Chromosome13
Chromosomal Location23418361-23423866 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 23423768 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 22 (E22G)
Ref Sequence ENSEMBL: ENSMUSP00000045888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041782]
Predicted Effect unknown
Transcript: ENSMUST00000041782
AA Change: E22G
SMART Domains Protein: ENSMUSP00000045888
Gene: ENSMUSG00000036376
AA Change: E22G

DomainStartEndE-ValueType
low complexity region 9 31 N/A INTRINSIC
low complexity region 36 44 N/A INTRINSIC
Blast:RRM 49 141 9e-34 BLAST
SCOP:d1fxla1 50 137 4e-3 SMART
coiled coil region 166 194 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153753
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik T A 6: 48,931,648 D527E probably damaging Het
Atp11b T G 3: 35,831,463 H668Q probably damaging Het
Birc6 T A 17: 74,631,720 V2687D probably benign Het
Cadm3 T C 1: 173,341,108 T298A possibly damaging Het
Car12 G A 9: 66,763,270 A174T possibly damaging Het
Ccdc180 T C 4: 45,904,544 L380P probably damaging Het
Col7a1 A T 9: 108,955,745 R214W unknown Het
Cyp2d26 T G 15: 82,790,249 R477S probably benign Het
Dgkd T C 1: 87,926,058 V541A possibly damaging Het
Dip2b T A 15: 100,178,511 F797I probably damaging Het
Dot1l A T 10: 80,780,894 N63I probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Ints5 T C 19: 8,896,993 I772T probably benign Het
Nosip T A 7: 45,076,859 I230N probably damaging Het
Olfr1423 A T 19: 12,036,097 L215Q probably damaging Het
Olfr204 T A 16: 59,315,110 Q99L probably damaging Het
Olfr457 A T 6: 42,471,289 D296E probably benign Het
Olfr800 G A 10: 129,660,650 M281I probably benign Het
Orc5 A T 5: 22,522,383 probably benign Het
Parp1 A G 1: 180,598,342 I879M probably damaging Het
Pcdh18 A G 3: 49,744,921 S1031P probably benign Het
Pdzd2 A G 15: 12,371,639 S2557P probably damaging Het
Rccd1 T C 7: 80,320,218 probably benign Het
Rsad1 A G 11: 94,548,977 probably null Het
Samd9l A T 6: 3,373,864 C1132* probably null Het
Sema6d A G 2: 124,658,571 probably benign Het
Slc10a5 T C 3: 10,335,520 N27D probably damaging Het
Slco1a5 C T 6: 142,243,873 M462I probably benign Het
Tyw5 T C 1: 57,401,469 T45A probably damaging Het
Usp21 T A 1: 171,282,733 Q489L possibly damaging Het
Vmn2r20 A G 6: 123,393,965 S519P possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Abt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01917:Abt1 APN 13 23423789 missense unknown
FR4548:Abt1 UTSW 13 23423711 small deletion probably benign
FR4976:Abt1 UTSW 13 23423711 small deletion probably benign
PIT4486001:Abt1 UTSW 13 23423681 missense possibly damaging 0.87
R0029:Abt1 UTSW 13 23422508 missense possibly damaging 0.85
R2171:Abt1 UTSW 13 23422217 missense probably damaging 1.00
R4082:Abt1 UTSW 13 23422146 missense probably benign 0.00
R5125:Abt1 UTSW 13 23422649 missense possibly damaging 0.75
R5178:Abt1 UTSW 13 23422649 missense possibly damaging 0.75
R5204:Abt1 UTSW 13 23422668 missense probably damaging 1.00
R5947:Abt1 UTSW 13 23422055 missense possibly damaging 0.55
R6562:Abt1 UTSW 13 23423588 missense probably damaging 0.99
Posted On2014-05-07