Incidental Mutation 'R5541:Taf1d'
ID 435968
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 043099-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.852) question?
Stock # R5541 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 15217510-15228287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 15220146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 132 (F132I)
Ref Sequence ENSEMBL: ENSMUSP00000149377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034415] [ENSMUST00000164079] [ENSMUST00000178977] [ENSMUST00000180339] [ENSMUST00000214054] [ENSMUST00000213763] [ENSMUST00000215124] [ENSMUST00000216825] [ENSMUST00000216955] [ENSMUST00000216109]
AlphaFold Q9D4V4
Predicted Effect probably damaging
Transcript: ENSMUST00000034415
AA Change: F132I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034415
Gene: ENSMUSG00000031939
AA Change: F132I

DomainStartEndE-ValueType
Pfam:TAF1D 27 243 4.3e-104 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104426
Predicted Effect probably damaging
Transcript: ENSMUST00000164079
AA Change: F132I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129141
Gene: ENSMUSG00000031939
AA Change: F132I

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 probably damaging
Transcript: ENSMUST00000214054
AA Change: F132I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000213763
AA Change: F132I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215124
AA Change: F132I

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000214316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213235
Predicted Effect probably benign
Transcript: ENSMUST00000215749
Predicted Effect probably damaging
Transcript: ENSMUST00000216825
AA Change: F132I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216073
Predicted Effect probably benign
Transcript: ENSMUST00000216955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216256
Predicted Effect probably benign
Transcript: ENSMUST00000216109
Meta Mutation Damage Score 0.4407 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency 100% (63/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,061,808 (GRCm39) K86R probably benign Het
Abca13 T C 11: 9,241,545 (GRCm39) V1136A probably benign Het
Arfgap2 G A 2: 91,106,114 (GRCm39) R530H probably benign Het
Arhgap30 T C 1: 171,231,707 (GRCm39) probably null Het
Asb7 T C 7: 66,329,017 (GRCm39) R8G probably benign Het
Bod1l T C 5: 41,949,276 (GRCm39) N2949D probably benign Het
Ccdc86 T C 19: 10,925,918 (GRCm39) E227G probably damaging Het
Cercam A G 2: 29,765,641 (GRCm39) D261G probably benign Het
Chd9 A T 8: 91,778,132 (GRCm39) E2714D probably benign Het
Dcp1a T A 14: 30,224,796 (GRCm39) S126R probably damaging Het
Defa17 T A 8: 22,146,565 (GRCm39) C64S probably damaging Het
Depdc5 A T 5: 33,021,973 (GRCm39) probably benign Het
Dhx29 A G 13: 113,076,908 (GRCm39) N259S possibly damaging Het
Dnah6 A T 6: 73,169,971 (GRCm39) L323Q possibly damaging Het
Dnah9 T C 11: 66,036,162 (GRCm39) Y416C probably damaging Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Fbxw15 T G 9: 109,394,498 (GRCm39) I106L probably benign Het
Flacc1 A G 1: 58,697,588 (GRCm39) M384T probably benign Het
Gm10610 A G 7: 83,198,614 (GRCm39) noncoding transcript Het
Gpr22 A G 12: 31,759,348 (GRCm39) F258S probably damaging Het
Grip1 A T 10: 119,908,623 (GRCm39) I618F probably damaging Het
Hspg2 C T 4: 137,247,862 (GRCm39) T1233I probably damaging Het
Hspg2 C A 4: 137,270,136 (GRCm39) Q2365K probably benign Het
Intu A G 3: 40,647,017 (GRCm39) probably null Het
Kdm1b T C 13: 47,232,672 (GRCm39) M714T probably damaging Het
Kif21a A G 15: 90,852,316 (GRCm39) M924T probably damaging Het
Klb A T 5: 65,536,577 (GRCm39) M636L probably benign Het
Klrb1a G A 6: 128,586,699 (GRCm39) H219Y probably benign Het
Macroh2a2 T C 10: 61,583,496 (GRCm39) I215V probably benign Het
Marchf10 C T 11: 105,280,957 (GRCm39) D443N probably damaging Het
Nos1 A G 5: 118,043,459 (GRCm39) E578G probably damaging Het
Or8b39 T C 9: 37,996,419 (GRCm39) C96R probably damaging Het
Or9i1 T C 19: 13,839,328 (GRCm39) I57T probably benign Het
Pard3b A G 1: 61,678,502 (GRCm39) Y34C probably damaging Het
Pcdh17 T A 14: 84,684,856 (GRCm39) V441E probably damaging Het
Pde6g A T 11: 120,338,998 (GRCm39) I64N probably damaging Het
Pdia4 C T 6: 47,773,571 (GRCm39) V593M probably damaging Het
Pnn T G 12: 59,118,716 (GRCm39) V433G possibly damaging Het
Rbak G A 5: 143,159,745 (GRCm39) S436F probably damaging Het
Rpl11 A G 4: 135,780,043 (GRCm39) probably benign Het
Ryr1 G T 7: 28,785,610 (GRCm39) Q1701K probably damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Smg1 T A 7: 117,756,386 (GRCm39) probably benign Het
St8sia2 T C 7: 73,616,648 (GRCm39) D109G probably benign Het
Stk-ps1 T A 17: 36,709,105 (GRCm39) noncoding transcript Het
Stxbp3-ps C T 19: 9,535,334 (GRCm39) noncoding transcript Het
Tfap2b A G 1: 19,284,250 (GRCm39) S35G possibly damaging Het
Tnk2 C T 16: 32,488,341 (GRCm39) T198I probably benign Het
Trappc2b T C 11: 51,576,796 (GRCm39) H34R probably benign Het
Ube2q2 T A 9: 55,099,163 (GRCm39) V168E possibly damaging Het
Ucma A G 2: 4,986,141 (GRCm39) R105G probably benign Het
Vmn2r97 C T 17: 19,148,617 (GRCm39) Q171* probably null Het
Wapl T C 14: 34,452,619 (GRCm39) probably null Het
Zfand4 T A 6: 116,291,256 (GRCm39) C397S possibly damaging Het
Zfhx3 A G 8: 109,675,583 (GRCm39) N2211S probably damaging Het
Zfp143 G T 7: 109,669,687 (GRCm39) G39C probably benign Het
Zfp568 T A 7: 29,722,301 (GRCm39) D414E possibly damaging Het
Zfp574 C T 7: 24,781,375 (GRCm39) A799V probably 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
R4381:Taf1d UTSW 9 15,223,277 (GRCm39) intron probably benign
R4927:Taf1d UTSW 9 15,221,250 (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'- CTCTTCTATAGAACCAAGGCCTC -3'
(R):5'- TGGAGCACTTTATATGGATGTCAC -3'

Sequencing Primer
(F):5'- AGGCCTCTGACTTTAAAGGC -3'
(R):5'- CAATCTTACCTAATGTATTCACCT -3'
Posted On 2016-10-24