Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02448:Taf1d'

293585

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.852) question?

Stock #

IGL02448

Quality Score

Status

Chromosome

Chromosomal Location

15217510-15228287 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 15221690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 224 (C224*)

Ref Sequence

ENSEMBL: ENSMUSP00000149377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034415] [ENSMUST00000164079] [ENSMUST00000214054] [ENSMUST00000213763] [ENSMUST00000180339] [ENSMUST00000215124] [ENSMUST00000178977] [ENSMUST00000216825] [ENSMUST00000216109] [ENSMUST00000216955]

AlphaFold

Q9D4V4

Predicted Effect

probably null
Transcript: ENSMUST00000034415
AA Change: C224*

SMART Domains

Protein: ENSMUSP00000034415
Gene: ENSMUSG00000031939
AA Change: C224*

Domain	Start	End	E-Value	Type
Pfam:TAF1D	27	243	4.3e-104	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158304

Predicted Effect

probably null
Transcript: ENSMUST00000164079
AA Change: C224*

SMART Domains

Protein: ENSMUSP00000129141
Gene: ENSMUSG00000031939
AA Change: C224*

Domain	Start	End	E-Value	Type
Pfam:TAF1D	27	243	5.4e-99	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200085

Predicted Effect

probably null
Transcript: ENSMUST00000214054
AA Change: C224*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214899

Predicted Effect

probably null
Transcript: ENSMUST00000213763
AA Change: C224*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213235

Predicted Effect

probably benign
Transcript: ENSMUST00000214316

Predicted Effect

probably benign
Transcript: ENSMUST00000180339

SMART Domains

Protein: ENSMUSP00000136717
Gene: ENSMUSG00000031938

Domain	Start	End	E-Value	Type
DUF1907	19	303	3.83e-200	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215741

Predicted Effect

probably benign
Transcript: ENSMUST00000215124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213317

Predicted Effect

probably benign
Transcript: ENSMUST00000178977

SMART Domains

Protein: ENSMUSP00000136335
Gene: ENSMUSG00000031938

Domain	Start	End	E-Value	Type
DUF1907	19	303	3.83e-200	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000215749
AA Change: C57*

Predicted Effect

probably null
Transcript: ENSMUST00000216825
AA Change: C224*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216073

Predicted Effect

probably benign
Transcript: ENSMUST00000216109

Predicted Effect

probably benign
Transcript: ENSMUST00000216955

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl6	T	A	9: 20,786,866 (GRCm39)	I286F	probably damaging	Het
Arhgap5	A	G	12: 52,609,123 (GRCm39)	E1366G	probably damaging	Het
Blzf1	T	A	1: 164,123,350 (GRCm39)	I326F	possibly damaging	Het
Cc2d2a	A	C	5: 43,840,547 (GRCm39)		probably benign	Het
Cdc37	T	C	9: 21,051,147 (GRCm39)	E366G	possibly damaging	Het
Cdh17	T	C	4: 11,784,680 (GRCm39)	S279P	probably benign	Het
Cdh18	T	C	15: 23,173,875 (GRCm39)	S30P	probably benign	Het
Cep192	A	G	18: 68,002,518 (GRCm39)	T2238A	probably benign	Het
Cpped1	C	T	16: 11,623,253 (GRCm39)	E289K	probably benign	Het
Ctsq	A	T	13: 61,184,044 (GRCm39)	Y293N	probably damaging	Het
Epb41l2	A	G	10: 25,369,493 (GRCm39)	N20S	possibly damaging	Het
Gcc2	T	A	10: 58,128,393 (GRCm39)	C1304*	probably null	Het
Hsd3b5	C	T	3: 98,529,447 (GRCm39)	G61E	probably damaging	Het
Igfals	A	T	17: 25,099,161 (GRCm39)	N84I	probably damaging	Het
Irs2	A	T	8: 11,057,862 (GRCm39)	V190D	probably benign	Het
Kank1	T	A	19: 25,388,739 (GRCm39)	L804Q	probably damaging	Het
Kcnj2	G	T	11: 110,963,108 (GRCm39)	V167L	probably benign	Het
Kif20a	T	C	18: 34,761,507 (GRCm39)	V300A	possibly damaging	Het
Kmt2d	T	C	15: 98,741,991 (GRCm39)		probably benign	Het
Moxd1	T	C	10: 24,158,617 (GRCm39)	F424L	probably damaging	Het
Mpeg1	A	C	19: 12,439,973 (GRCm39)	D477A	probably benign	Het
Mtmr10	A	T	7: 63,957,898 (GRCm39)	Y166F	probably damaging	Het
Muc5b	T	G	7: 141,422,226 (GRCm39)	I4454S	possibly damaging	Het
Ntng1	G	A	3: 109,841,875 (GRCm39)		probably benign	Het
Or52r1b	T	C	7: 102,691,604 (GRCm39)	I306T	possibly damaging	Het
Or7e175	T	A	9: 20,048,937 (GRCm39)	L175*	probably null	Het
Pex11a	A	T	7: 79,387,208 (GRCm39)		probably null	Het
Plcg2	A	G	8: 118,333,960 (GRCm39)	D911G	probably benign	Het
Rc3h2	T	C	2: 37,279,817 (GRCm39)	T471A	probably benign	Het
Rif1	T	A	2: 52,006,708 (GRCm39)	L2214Q	probably damaging	Het
Rtel1	T	A	2: 180,977,830 (GRCm39)	S120T	probably benign	Het
Ryr1	A	G	7: 28,804,491 (GRCm39)		probably benign	Het
Sh3yl1	G	T	12: 30,989,666 (GRCm39)	A129S	probably damaging	Het
Slc25a10	A	G	11: 120,387,879 (GRCm39)	T191A	probably benign	Het
Slc8b1	T	C	5: 120,663,856 (GRCm39)	S359P	probably damaging	Het
Srf	T	C	17: 46,866,349 (GRCm39)	T136A	possibly damaging	Het
Stx1a	G	T	5: 135,052,473 (GRCm39)		probably benign	Het
Tnik	A	G	3: 28,675,226 (GRCm39)	S700G	probably null	Het
Ttn	T	C	2: 76,773,331 (GRCm39)	H2357R	probably benign	Het
Ttn	T	C	2: 76,566,458 (GRCm39)	E28145G	probably damaging	Het
Ush1c	C	A	7: 45,858,561 (GRCm39)	V576F	possibly damaging	Het
Xpc	T	C	6: 91,492,726 (GRCm39)	E19G	probably benign	Het
Zdhhc25	G	A	15: 88,485,045 (GRCm39)	V127M	probably damaging	Het

Other mutations in Taf1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16