Incidental Mutation 'R4381:Taf1d'
ID 325334
Institutional Source Beutler Lab
Gene Symbol Taf1d
Ensembl Gene ENSMUSG00000031939
Gene Name TATA-box binding protein associated factor, RNA polymerase I, D
Synonyms 4930553M18Rik, TAF(I)41, TAFI41, Josd3
MMRRC Submission 041122-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.852) question?
Stock # R4381 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 15217510-15228287 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 15223277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034415] [ENSMUST00000213763] [ENSMUST00000164079] [ENSMUST00000161132] [ENSMUST00000216825] [ENSMUST00000216109] [ENSMUST00000215124] [ENSMUST00000214054]
AlphaFold Q9D4V4
Predicted Effect unknown
Transcript: ENSMUST00000034415
AA Change: L310Q
SMART Domains Protein: ENSMUSP00000034415
Gene: ENSMUSG00000031939
AA Change: L310Q

DomainStartEndE-ValueType
Pfam:TAF1D 27 243 4.3e-104 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000058041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000059410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158304
Predicted Effect probably benign
Transcript: ENSMUST00000160946
SMART Domains Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111

DomainStartEndE-ValueType
coiled coil region 92 119 N/A INTRINSIC
low complexity region 282 293 N/A INTRINSIC
low complexity region 356 370 N/A INTRINSIC
coiled coil region 451 480 N/A INTRINSIC
low complexity region 828 843 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213235
Predicted Effect probably benign
Transcript: ENSMUST00000213763
Predicted Effect probably benign
Transcript: ENSMUST00000164079
SMART Domains Protein: ENSMUSP00000129141
Gene: ENSMUSG00000031939

DomainStartEndE-ValueType
Pfam:TAF1D 27 243 5.4e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161132
SMART Domains Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111

DomainStartEndE-ValueType
low complexity region 111 127 N/A INTRINSIC
coiled coil region 210 240 N/A INTRINSIC
coiled coil region 488 535 N/A INTRINSIC
coiled coil region 813 841 N/A INTRINSIC
coiled coil region 1300 1327 N/A INTRINSIC
low complexity region 1489 1500 N/A INTRINSIC
low complexity region 1563 1577 N/A INTRINSIC
coiled coil region 1659 1688 N/A INTRINSIC
low complexity region 2035 2050 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214045
Predicted Effect probably benign
Transcript: ENSMUST00000216825
Predicted Effect probably benign
Transcript: ENSMUST00000216109
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216256
Predicted Effect probably benign
Transcript: ENSMUST00000215124
Predicted Effect probably benign
Transcript: ENSMUST00000214316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214899
Predicted Effect probably benign
Transcript: ENSMUST00000214054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216768
Predicted Effect probably benign
Transcript: ENSMUST00000215749
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 95% (41/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Dlgap2 A G 8: 14,896,502 (GRCm39) I993V probably benign Het
Dst T C 1: 34,202,316 (GRCm39) S215P probably damaging Het
Eml5 A G 12: 98,782,214 (GRCm39) I1359T possibly damaging Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Gpr158 T A 2: 21,832,403 (GRCm39) W1168R probably damaging Het
Ighv1-62-1 T A 12: 115,350,613 (GRCm39) H18L probably benign Het
Il18r1 A G 1: 40,510,950 (GRCm39) I12V probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Mib2 G C 4: 155,742,069 (GRCm39) A234G possibly damaging Het
Mtpap T C 18: 4,383,223 (GRCm39) F200S probably benign Het
Nacad T A 11: 6,550,204 (GRCm39) T996S probably benign Het
Nek9 T A 12: 85,376,632 (GRCm39) T250S probably damaging Het
Nif3l1 A C 1: 58,494,738 (GRCm39) probably benign Het
Nipbl A G 15: 8,388,690 (GRCm39) V310A probably benign Het
Or10al3 G T 17: 38,011,790 (GRCm39) E76D probably damaging Het
Or7g34 A G 9: 19,478,038 (GRCm39) L211P probably benign Het
Pbrm1 T C 14: 30,747,513 (GRCm39) V33A probably benign Het
Pcdha4 A G 18: 37,085,928 (GRCm39) E37G probably damaging Het
Pdgfc A G 3: 81,116,558 (GRCm39) K304R probably damaging Het
Peak1 G T 9: 56,165,711 (GRCm39) A739E probably benign Het
Pla2g4c A T 7: 13,079,990 (GRCm39) N433Y probably damaging Het
Polrmt A C 10: 79,577,642 (GRCm39) L319R possibly damaging Het
Prkaa1 A T 15: 5,206,289 (GRCm39) T373S probably benign Het
Qars1 G A 9: 108,387,382 (GRCm39) probably benign Het
Ranbp1 G A 16: 18,065,208 (GRCm39) L33F probably damaging Het
Rpgrip1 C T 14: 52,387,906 (GRCm39) P1094L possibly damaging Het
Tstd2 T C 4: 46,119,933 (GRCm39) K340E probably benign Het
Vmn2r45 A T 7: 8,474,912 (GRCm39) C705* probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zdhhc16 A G 19: 41,929,093 (GRCm39) Y232C possibly damaging Het
Zfp1 T A 8: 112,397,083 (GRCm39) L354Q probably damaging Het
Zyg11a G A 4: 108,058,517 (GRCm39) A341V possibly damaging Het
Other mutations in Taf1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Taf1d APN 9 15,222,899 (GRCm39) missense probably damaging 0.99
IGL01861:Taf1d APN 9 15,220,035 (GRCm39) splice site probably null
IGL02448:Taf1d APN 9 15,221,690 (GRCm39) nonsense probably null
IGL03106:Taf1d APN 9 15,221,237 (GRCm39) missense possibly damaging 0.83
R0026:Taf1d UTSW 9 15,219,944 (GRCm39) missense probably damaging 1.00
R0026:Taf1d UTSW 9 15,219,944 (GRCm39) missense probably damaging 1.00
R0079:Taf1d UTSW 9 15,221,240 (GRCm39) missense probably benign 0.08
R4298:Taf1d UTSW 9 15,219,939 (GRCm39) missense probably damaging 1.00
R4379:Taf1d UTSW 9 15,223,277 (GRCm39) intron probably benign
R4927:Taf1d UTSW 9 15,221,250 (GRCm39) missense probably damaging 0.99
R5541:Taf1d UTSW 9 15,220,146 (GRCm39) missense probably damaging 0.99
R6072:Taf1d UTSW 9 15,222,856 (GRCm39) missense probably benign 0.00
R6736:Taf1d UTSW 9 15,219,119 (GRCm39) critical splice donor site probably null
R7527:Taf1d UTSW 9 15,220,133 (GRCm39) missense possibly damaging 0.94
R8031:Taf1d UTSW 9 15,221,695 (GRCm39) missense probably damaging 1.00
R8844:Taf1d UTSW 9 15,221,324 (GRCm39) missense probably damaging 1.00
X0057:Taf1d UTSW 9 15,219,816 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TTGCTGGTGGAACGCTAATAAATAC -3'
(R):5'- TGGGTTCGAAGAGAAAGCTC -3'

Sequencing Primer
(F):5'- TTCGTTGCTTGATTTCAGAGTAAG -3'
(R):5'- TGGGTACTGCACACATATGC -3'
Posted On 2015-07-06