Incidental Mutation 'R9759:Abt1'
ID 732911
Institutional Source Beutler Lab
Gene Symbol Abt1
Ensembl Gene ENSMUSG00000036376
Gene Name activator of basal transcription 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R9759 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 23602531-23608036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 23606439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 172 (Q172K)
Ref Sequence ENSEMBL: ENSMUSP00000045888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041782]
AlphaFold Q9QYL7
Predicted Effect probably damaging
Transcript: ENSMUST00000041782
AA Change: Q172K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045888
Gene: ENSMUSG00000036376
AA Change: Q172K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.7%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik G T 13: 119,615,989 (GRCm39) W508L probably damaging Het
Aoah C A 13: 21,000,738 (GRCm39) H57Q probably damaging Het
Cpxm2 T C 7: 131,756,242 (GRCm39) E34G probably benign Het
Ddx25 C T 9: 35,457,265 (GRCm39) R350Q probably benign Het
Dnah9 G A 11: 65,965,944 (GRCm39) H1691Y probably null Het
Doc2g A T 19: 4,056,571 (GRCm39) H319L probably benign Het
Enah A C 1: 181,841,911 (GRCm39) V6G unknown Het
Fam135b T G 15: 71,335,689 (GRCm39) T502P probably benign Het
Frem2 A G 3: 53,562,918 (GRCm39) S530P possibly damaging Het
Gm19410 A G 8: 36,252,938 (GRCm39) R628G possibly damaging Het
Hdac7 T C 15: 97,699,989 (GRCm39) T614A probably benign Het
Ift88 T A 14: 57,672,256 (GRCm39) L32* probably null Het
Insm2 C T 12: 55,647,390 (GRCm39) T378M possibly damaging Het
Kctd3 G A 1: 188,710,786 (GRCm39) T459M probably damaging Het
Khsrp A G 17: 57,332,925 (GRCm39) L188P probably benign Het
Kynu A G 2: 43,569,881 (GRCm39) I388V probably benign Het
Met T C 6: 17,555,561 (GRCm39) V1090A probably damaging Het
Mier1 C T 4: 103,019,725 (GRCm39) T483I probably benign Het
Mthfsd A G 8: 121,824,615 (GRCm39) S297P probably benign Het
P2rx5 A T 11: 73,058,341 (GRCm39) I259F probably damaging Het
Pax3 A G 1: 78,170,415 (GRCm39) L138P probably damaging Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Rbm12 A T 2: 155,938,546 (GRCm39) H575Q probably benign Het
Scube1 C T 15: 83,492,465 (GRCm39) R953H probably benign Het
Sirt1 A G 10: 63,156,516 (GRCm39) S705P probably benign Het
Slc23a3 ATT ATTT 1: 75,109,925 (GRCm39) probably null Het
Slc46a3 T C 5: 147,823,234 (GRCm39) T203A probably benign Het
Snta1 G T 2: 154,222,889 (GRCm39) T278K probably benign Het
Stac3 A G 10: 127,344,083 (GRCm39) D327G possibly damaging Het
Timm44 C A 8: 4,317,707 (GRCm39) E205* probably null Het
Timm8a2 A T 14: 122,272,216 (GRCm39) T40S probably damaging Het
Vmn2r116 A G 17: 23,620,360 (GRCm39) N698S possibly damaging Het
Zik1 A C 7: 10,223,716 (GRCm39) C460W possibly damaging Het
Zmynd8 A C 2: 165,680,746 (GRCm39) I229S possibly damaging 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
R0029:Abt1 UTSW 13 23,606,678 (GRCm39) missense possibly damaging 0.85
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
Predicted Primers PCR Primer
(F):5'- TGGTCCTCGACATTAGCCAG -3'
(R):5'- TTATGACCTGTGGAACCTCAAGG -3'

Sequencing Primer
(F):5'- TCGACATTAGCCAGCCGTG -3'
(R):5'- GAGGTTCTCAGTTTGTCTGCCAC -3'
Posted On 2022-11-14