Mutagenetix > Incidental Mutations

Incidental Mutation 'R0026:Taf1d'

15091

Institutional Source

Beutler Lab

Gene Symbol

Taf1d

Ensembl Gene

ENSMUSG00000031939

Gene Name

TATA-box binding protein associated factor, RNA polymerase I, D

Synonyms

TAF(I)41, TAFI41, 4930553M18Rik, Josd3

MMRRC Submission

038321-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.806) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

15306214-15316991 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15308648 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

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

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 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: 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

0.21

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2012-12-12