Incidental Mutation 'PIT4486001:Abt1'
ID 556123
Institutional Source Beutler Lab
Gene Symbol Abt1
Ensembl Gene ENSMUSG00000036376
Gene Name activator of basal transcription 1
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # PIT4486001 (G1)
Quality Score 165.009
Status Not validated
Chromosome 13
Chromosomal Location 23602531-23608036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23607851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 51 (Y51C)
Ref Sequence ENSEMBL: ENSMUSP00000045888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041782]
AlphaFold Q9QYL7
Predicted Effect possibly damaging
Transcript: ENSMUST00000041782
AA Change: Y51C

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045888
Gene: ENSMUSG00000036376
AA Change: Y51C

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: 93.0%
  • 3x: 90.5%
  • 10x: 84.1%
  • 20x: 70.1%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T C 5: 144,980,914 (GRCm39) S108P probably damaging Het
Abhd16b A T 2: 181,135,752 (GRCm39) Q218L probably benign Het
Abhd3 T A 18: 10,645,233 (GRCm39) I354F probably benign Het
Actl9 T A 17: 33,653,172 (GRCm39) Y411N possibly damaging Het
Ano4 A G 10: 88,828,891 (GRCm39) V516A probably damaging Het
Bptf A T 11: 106,945,614 (GRCm39) S2542T probably damaging Het
Card11 C T 5: 140,862,163 (GRCm39) V1045M probably damaging Het
Ccdc121 T A 5: 31,645,087 (GRCm39) I280K probably damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Cdh3 A G 8: 107,268,122 (GRCm39) K386E possibly damaging Het
Cks1b C A 3: 89,323,621 (GRCm39) Q49H probably damaging Het
Clpb A T 7: 101,313,139 (GRCm39) D41V probably benign Het
Cyp3a11 A T 5: 145,797,302 (GRCm39) M359K probably damaging Het
Cyp3a13 A T 5: 137,908,228 (GRCm39) I207N probably benign Het
Dennd4c T A 4: 86,717,701 (GRCm39) L566* probably null Het
Dhtkd1 A T 2: 5,904,806 (GRCm39) D859E probably benign Het
Efcab6 T C 15: 83,857,514 (GRCm39) D295G probably benign Het
Fcgbp A G 7: 27,774,698 (GRCm39) T91A possibly damaging Het
Gm11569 GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA GCA 11: 99,689,491 (GRCm39) probably benign Het
Gsdma3 A G 11: 98,528,880 (GRCm39) K454E unknown Het
Herc1 T A 9: 66,279,671 (GRCm39) I193N probably damaging Het
Kdm5b T A 1: 134,556,423 (GRCm39) L1370Q probably damaging Het
Lrrc37 A T 11: 103,509,027 (GRCm39) H980Q unknown Het
Map4 T G 9: 109,901,682 (GRCm39) V965G probably damaging Het
Mkrn2os T C 6: 115,562,444 (GRCm39) D173G probably benign Het
Ndfip2 A G 14: 105,532,300 (GRCm39) D232G probably damaging Het
Nipal2 C T 15: 34,584,875 (GRCm39) G231D probably damaging Het
Notch3 A T 17: 32,373,737 (GRCm39) N490K probably damaging Het
Or5p68 A G 7: 107,945,529 (GRCm39) S220P possibly damaging Het
Or8g50 T A 9: 39,648,535 (GRCm39) C141* probably null Het
Prkar2a T C 9: 108,610,326 (GRCm39) L185S probably damaging Het
Ptpn9 T G 9: 56,968,287 (GRCm39) N542K probably damaging Het
Pus10 G A 11: 23,662,326 (GRCm39) probably null Het
Pyroxd2 A G 19: 42,728,828 (GRCm39) S191P probably benign Het
Rab15 T A 12: 76,848,716 (GRCm39) K122* probably null Het
Rara A G 11: 98,864,321 (GRCm39) N416S possibly damaging Het
Rims2 T C 15: 39,339,916 (GRCm39) V870A possibly damaging Het
Sec16a T C 2: 26,315,785 (GRCm39) T293A Het
Slc26a3 G A 12: 31,520,949 (GRCm39) D718N probably benign Het
Slc44a5 G A 3: 153,964,659 (GRCm39) V520I possibly damaging Het
Spata31e2 G A 1: 26,724,410 (GRCm39) P257S probably damaging Het
Tgfb2 A T 1: 186,422,924 (GRCm39) Y142N probably benign Het
Tgfbi A T 13: 56,777,607 (GRCm39) I364F probably damaging Het
Tmem144 A C 3: 79,734,174 (GRCm39) D176E probably benign Het
Tns4 A T 11: 98,962,161 (GRCm39) L612Q probably damaging Het
Toe1 A G 4: 116,663,692 (GRCm39) L76S probably damaging Het
Trank1 T C 9: 111,219,175 (GRCm39) F1971L probably damaging Het
Tsen54 G T 11: 115,713,422 (GRCm39) V481F probably damaging Het
Uimc1 A G 13: 55,223,381 (GRCm39) L297P probably damaging Het
Wnt8a T C 18: 34,680,636 (GRCm39) Y334H probably damaging Het
Zfp281 A G 1: 136,554,741 (GRCm39) D573G 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
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
R9759:Abt1 UTSW 13 23,606,439 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATTCGTGTACAGCCAAGAAAATG -3'
(R):5'- GGATTTACGTCATTTCTTGGCC -3'

Sequencing Primer
(F):5'- AAAATGAGTCGCGCCCG -3'
(R):5'- ACAGATTCACGGCTGTCG -3'
Posted On 2019-06-07