Incidental Mutation 'R0029:Abt1'
ID 44587
Institutional Source Beutler Lab
Gene Symbol Abt1
Ensembl Gene ENSMUSG00000036376
Gene Name activator of basal transcription 1
Synonyms
MMRRC Submission 038323-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R0029 (G1)
Quality Score 223
Status Validated
Chromosome 13
Chromosomal Location 23602531-23608036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23606678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 141 (F141Y)
Ref Sequence ENSEMBL: ENSMUSP00000045888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041782]
AlphaFold Q9QYL7
Predicted Effect possibly damaging
Transcript: ENSMUST00000041782
AA Change: F141Y

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045888
Gene: ENSMUSG00000036376
AA Change: F141Y

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
Meta Mutation Damage Score 0.0709 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency 94% (48/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,945,225 (GRCm39) F434L probably benign Het
Anapc15-ps A G 10: 95,508,857 (GRCm39) I141T probably damaging Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Axin2 A G 11: 108,814,873 (GRCm39) T254A probably benign Het
Ccn4 C T 15: 66,784,713 (GRCm39) R129C probably damaging Het
Ciz1 A G 2: 32,261,431 (GRCm39) probably benign Het
Cpa4 A G 6: 30,585,044 (GRCm39) Y276C probably damaging Het
Cpt1a A G 19: 3,431,674 (GRCm39) D698G probably benign Het
Crebbp T C 16: 3,935,307 (GRCm39) T861A probably damaging Het
Dpy19l2 T A 9: 24,469,397 (GRCm39) D753V probably damaging Het
Exosc7 A T 9: 122,948,302 (GRCm39) probably benign Het
Fbxw28 T A 9: 109,157,357 (GRCm39) D244V probably damaging Het
Fgd5 A G 6: 92,044,539 (GRCm39) D1260G probably benign Het
Gapvd1 T A 2: 34,568,153 (GRCm39) I1404F probably damaging Het
Gas7 A G 11: 67,534,163 (GRCm39) S88G probably benign Het
Hk1 T C 10: 62,151,173 (GRCm39) D57G probably damaging Het
Il23r A C 6: 67,455,929 (GRCm39) probably null Het
Impg1 T C 9: 80,305,653 (GRCm39) D138G probably damaging Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Kirrel2 A G 7: 30,152,590 (GRCm39) probably benign Het
Lipm T C 19: 34,093,948 (GRCm39) probably benign Het
Lrpap1 T C 5: 35,255,021 (GRCm39) N205S possibly damaging Het
Mboat4 T G 8: 34,587,363 (GRCm39) F87V probably damaging Het
Nadsyn1 G C 7: 143,359,815 (GRCm39) Q386E probably benign Het
Nell1 G A 7: 49,770,463 (GRCm39) probably benign Het
Or5ac25 T C 16: 59,181,904 (GRCm39) R226G probably benign Het
Or8g35 T A 9: 39,381,956 (GRCm39) E22V probably benign Het
Pard3 G T 8: 128,153,239 (GRCm39) probably benign Het
Per2 C A 1: 91,351,434 (GRCm39) R1024L possibly damaging Het
Phf11c T C 14: 59,622,364 (GRCm39) D216G probably benign Het
Polk G A 13: 96,653,178 (GRCm39) T74I probably damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Psmb7 T A 2: 38,523,919 (GRCm39) H152L probably damaging Het
Ralgps1 A T 2: 33,031,031 (GRCm39) D498E probably benign Het
Slc26a2 G A 18: 61,335,382 (GRCm39) P24S possibly damaging Het
Slc4a11 A G 2: 130,529,974 (GRCm39) F268S probably damaging Het
Spmip11 T C 15: 98,483,190 (GRCm39) probably null Het
Stk38 T C 17: 29,201,112 (GRCm39) E188G probably benign Het
Sulf2 T C 2: 165,958,893 (GRCm39) N105S possibly damaging Het
Sult2a3 T A 7: 13,806,999 (GRCm39) M228L probably benign Het
Svil C A 18: 5,063,286 (GRCm39) D852E probably benign Het
Tcaf2 A T 6: 42,607,093 (GRCm39) L287* probably null Het
Tmem132e A T 11: 82,335,587 (GRCm39) I890F probably damaging Het
Tmem63a A G 1: 180,790,031 (GRCm39) Y401C probably benign Het
Ttn T C 2: 76,596,850 (GRCm39) E20021G probably damaging Het
Ubac1 G T 2: 25,911,455 (GRCm39) T31N probably benign Het
Usp29 T C 7: 6,964,580 (GRCm39) L141P probably damaging Het
Vmn1r179 A T 7: 23,628,630 (GRCm39) I274F probably benign Het
Vmn1r204 A G 13: 22,740,588 (GRCm39) Y73C probably benign Het
Vmn2r2 T C 3: 64,024,365 (GRCm39) I739V probably benign Het
Other mutations in Abt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01915:Abt1 APN 13 23,607,938 (GRCm39) missense unknown
IGL01917:Abt1 APN 13 23,607,959 (GRCm39) missense unknown
FR4548:Abt1 UTSW 13 23,607,881 (GRCm39) small deletion probably benign
FR4976:Abt1 UTSW 13 23,607,881 (GRCm39) small deletion probably benign
PIT4486001:Abt1 UTSW 13 23,607,851 (GRCm39) missense possibly damaging 0.87
R2171:Abt1 UTSW 13 23,606,387 (GRCm39) missense probably damaging 1.00
R4082:Abt1 UTSW 13 23,606,316 (GRCm39) missense probably benign 0.00
R5125:Abt1 UTSW 13 23,606,819 (GRCm39) missense possibly damaging 0.75
R5178:Abt1 UTSW 13 23,606,819 (GRCm39) missense possibly damaging 0.75
R5204:Abt1 UTSW 13 23,606,838 (GRCm39) missense probably damaging 1.00
R5947:Abt1 UTSW 13 23,606,225 (GRCm39) missense possibly damaging 0.55
R6562:Abt1 UTSW 13 23,607,758 (GRCm39) missense probably damaging 0.99
R8115:Abt1 UTSW 13 23,606,402 (GRCm39) missense probably damaging 1.00
R9759:Abt1 UTSW 13 23,606,439 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAAGGCAAGGTGTTCACTGAGG -3'
(R):5'- GTGTGGCTTACGGCTAAACTGAGG -3'

Sequencing Primer
(F):5'- TTCACTGAGGTGGGACCAAG -3'
(R):5'- GTGTTTGGCCTACAGACCAC -3'
Posted On 2013-06-11