Incidental Mutation 'R0026:Taf1d'
ID15091
Institutional Source Beutler Lab
Gene Symbol Taf1d
Ensembl Gene ENSMUSG00000031939
Gene NameTATA-box binding protein associated factor, RNA polymerase I, D
SynonymsTAF(I)41, TAFI41, 4930553M18Rik, Josd3
MMRRC Submission 038321-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.818) question?
Stock #R0026 (G1)
Quality Score
Status Validated
Chromosome9
Chromosomal Location15306214-15316991 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 15308648 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 64 (S64R)
Ref Sequence ENSEMBL: ENSMUSP00000149377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034415] [ENSMUST00000164079] [ENSMUST00000178977] [ENSMUST00000180339] [ENSMUST00000213763] [ENSMUST00000214054] [ENSMUST00000215124] [ENSMUST00000216109] [ENSMUST00000216825] [ENSMUST00000216955]
Predicted Effect probably damaging
Transcript: ENSMUST00000034415
AA Change: S64R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034415
Gene: ENSMUSG00000031939
AA Change: S64R

DomainStartEndE-ValueType
Pfam:TAF1D 27 243 4.3e-104 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104426
Predicted Effect probably damaging
Transcript: ENSMUST00000164079
AA Change: S64R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129141
Gene: ENSMUSG00000031939
AA Change: S64R

DomainStartEndE-ValueType
Pfam:TAF1D 27 243 5.4e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178977
SMART Domains Protein: ENSMUSP00000136335
Gene: ENSMUSG00000031938

DomainStartEndE-ValueType
DUF1907 19 303 3.83e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180339
SMART Domains Protein: ENSMUSP00000136717
Gene: ENSMUSG00000031938

DomainStartEndE-ValueType
DUF1907 19 303 3.83e-200 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213235
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213317
Predicted Effect probably damaging
Transcript: ENSMUST00000213763
AA Change: S64R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213923
Predicted Effect probably damaging
Transcript: ENSMUST00000214054
AA Change: S64R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214221
Predicted Effect probably benign
Transcript: ENSMUST00000214316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214899
Predicted Effect possibly damaging
Transcript: ENSMUST00000215124
AA Change: S64R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215741
Predicted Effect probably benign
Transcript: ENSMUST00000215749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216073
Predicted Effect probably damaging
Transcript: ENSMUST00000216109
AA Change: S64R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216768
Predicted Effect probably damaging
Transcript: ENSMUST00000216825
AA Change: S64R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216955
Meta Mutation Damage Score 0.0899 question?
Coding Region Coverage
  • 1x: 78.7%
  • 3x: 68.7%
  • 10x: 42.4%
  • 20x: 22.6%
Validation Efficiency 96% (75/78)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T A 1: 26,683,369 D910V probably benign Het
Abca16 C T 7: 120,477,923 probably benign Het
Acot10 G A 15: 20,666,236 L140F probably benign Het
Asph A C 4: 9,601,361 S129A probably damaging Het
Atrn T C 2: 130,957,920 Y406H probably damaging Het
B4galt3 C T 1: 171,274,261 probably benign Het
BC016579 T C 16: 45,640,367 T113A probably benign Het
Bmpr1b A G 3: 141,870,733 L113P probably benign Het
Casq1 T C 1: 172,219,400 probably benign Het
Ccdc187 T C 2: 26,281,353 D371G probably benign Het
Clstn1 G A 4: 149,634,796 V361M probably damaging Het
Cyp4b1 C T 4: 115,647,521 G56D possibly damaging Het
Dock5 C A 14: 67,846,081 E126D probably benign Het
Exph5 A T 9: 53,376,479 D1620V probably benign Het
Fancd2os G T 6: 113,597,691 T118N probably damaging Het
Fli1 A G 9: 32,476,584 Y37H probably damaging Het
Gm17521 G A X: 123,029,542 S43L probably benign Het
Gnb3 A G 6: 124,837,417 V135A probably benign Het
Ibtk A G 9: 85,690,303 V1278A probably benign Het
Ighv1-58 G A 12: 115,312,287 T77I probably benign Het
Lgsn T A 1: 31,203,443 V202D probably damaging Het
Madd A G 2: 91,175,708 F381L possibly damaging Het
Ntf3 T A 6: 126,101,805 N246I probably damaging Het
Pds5b G A 5: 150,749,830 probably benign Het
Ppp3cb C T 14: 20,531,768 V60I probably benign Het
Prc1 T C 7: 80,311,061 probably benign Het
Prpf31 T A 7: 3,639,668 N413K probably benign Het
Rapgef5 T C 12: 117,689,161 S307P probably benign Het
Rbfox2 T C 15: 77,084,157 T435A possibly damaging Het
Senp1 T C 15: 98,076,668 R88G probably damaging Het
Slc35b1 T C 11: 95,390,642 S294P probably benign Het
Slc44a5 G A 3: 154,240,270 probably benign Het
Trim6 T A 7: 104,225,809 probably null Het
Ttn T C 2: 76,769,190 T19186A probably damaging Het
Uchl4 A T 9: 64,235,371 probably null Het
Usp32 T C 11: 85,032,074 S673G possibly damaging Het
Utrn T C 10: 12,726,196 probably benign Het
Vps13b T C 15: 35,923,301 I3774T possibly damaging Het
Vwa3a A G 7: 120,780,211 Q513R probably damaging Het
Yipf1 T A 4: 107,345,160 L240* probably null Het
Other mutations in Taf1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Taf1d APN 9 15311603 missense probably damaging 0.99
IGL01861:Taf1d APN 9 15308739 unclassified probably null
IGL02448:Taf1d APN 9 15310394 nonsense probably null
IGL03106:Taf1d APN 9 15309941 missense possibly damaging 0.83
R0026:Taf1d UTSW 9 15308648 missense probably damaging 1.00
R0079:Taf1d UTSW 9 15309944 missense probably benign 0.08
R4298:Taf1d UTSW 9 15308643 missense probably damaging 1.00
R4379:Taf1d UTSW 9 15311981 intron probably benign
R4381:Taf1d UTSW 9 15311981 intron probably benign
R4927:Taf1d UTSW 9 15309954 missense probably damaging 0.99
R5541:Taf1d UTSW 9 15308850 missense probably damaging 0.99
R6072:Taf1d UTSW 9 15311560 missense probably benign 0.00
R6736:Taf1d UTSW 9 15307823 critical splice donor site probably null
R7527:Taf1d UTSW 9 15308837 missense possibly damaging 0.94
X0057:Taf1d UTSW 9 15308520 splice site probably null
Posted On2012-12-12