Mutagenetix > Incidental Mutation

Incidental Mutation 'R0026:Taf1d'

64498

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

Essential gene?

Probably essential (E-score: 0.893) question?

Stock #

R0026 (G1)

Quality Score

125

Status

Not validated

Chromosome

Chromosomal Location

15306214-15316991 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15308648 bp (GRCm38)

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] [ENSMUST00000216825] [ENSMUST00000216109] [ENSMUST00000215124] [ENSMUST00000216955]

AlphaFold

Q9D4V4

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

probably damaging
Transcript: ENSMUST00000216825
AA Change: S64R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216109
AA Change: S64R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: ENSMUST00000214221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216768

Predicted Effect

probably benign
Transcript: ENSMUST00000216955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215741

Predicted Effect

probably benign
Transcript: ENSMUST00000214316

Predicted Effect

probably benign
Transcript: ENSMUST00000215749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216073

Meta Mutation Damage Score

0.0899

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,066,805 (GRCm38)	I585N	possibly damaging	Het
4931408C20Rik	T	A	1: 26,683,369 (GRCm38)	D910V	probably benign	Het
A830005F24Rik	C	T	13: 48,514,372 (GRCm38)		probably benign	Het
Abca16	C	T	7: 120,477,923 (GRCm38)		probably benign	Het
Acot10	G	A	15: 20,666,236 (GRCm38)	L140F	probably benign	Het
Adam19	G	T	11: 46,136,259 (GRCm38)	C573F	probably damaging	Het
Aff3	A	G	1: 38,203,893 (GRCm38)	S948P	probably benign	Het
Anxa3	T	A	5: 96,838,401 (GRCm38)	Y300N	probably benign	Het
BC016579	T	C	16: 45,640,367 (GRCm38)	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,870,733 (GRCm38)	L113P	probably benign	Het
Casq1	T	C	1: 172,219,400 (GRCm38)		probably benign	Het
Cdc16	T	A	8: 13,759,130 (GRCm38)		probably null	Het
Cep135	C	T	5: 76,606,734 (GRCm38)	R353*	probably null	Het
Cma1	A	T	14: 55,942,164 (GRCm38)	C188S	probably damaging	Het
Csf3r	A	G	4: 126,031,884 (GRCm38)	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,647,521 (GRCm38)	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,477,784 (GRCm38)	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,727,363 (GRCm38)	Q203*	probably null	Het
Ephb3	A	G	16: 21,214,917 (GRCm38)	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,597,691 (GRCm38)	T118N	probably damaging	Het
Gm10801	T	C	2: 98,663,909 (GRCm38)		probably benign	Het
Got1l1	C	T	8: 27,200,248 (GRCm38)	V132I	probably benign	Het
H2-M9	T	C	17: 36,641,527 (GRCm38)		probably benign	Het
Ibtk	A	G	9: 85,690,303 (GRCm38)	V1278A	probably benign	Het
Kctd3	T	C	1: 188,976,621 (GRCm38)	T519A	probably damaging	Het
Lgsn	T	A	1: 31,203,443 (GRCm38)	V202D	probably damaging	Het
Madd	A	G	2: 91,175,708 (GRCm38)	F381L	possibly damaging	Het
Map1s	G	A	8: 70,914,638 (GRCm38)	G729D	probably damaging	Het
Mlycd	A	G	8: 119,410,435 (GRCm38)	I465V	probably benign	Het
Mrgprb1	T	C	7: 48,447,204 (GRCm38)	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,482,023 (GRCm38)	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,438,429 (GRCm38)	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,591,573 (GRCm38)	D773G	probably damaging	Het
Nxnl1	A	G	8: 71,566,573 (GRCm38)	S3P	probably damaging	Het
Olfr109	T	A	17: 37,466,803 (GRCm38)	V199D	probably damaging	Het
Olfr921	G	A	9: 38,775,596 (GRCm38)	V114I	probably benign	Het
Otud7a	T	C	7: 63,735,801 (GRCm38)	F338L	probably benign	Het
Pdcl3	T	A	1: 38,991,280 (GRCm38)	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,594,930 (GRCm38)		probably benign	Het
Prpf31	T	A	7: 3,639,668 (GRCm38)	N413K	probably benign	Het
Rapgef5	T	C	12: 117,689,161 (GRCm38)	S307P	probably benign	Het
Relt	C	A	7: 100,850,221 (GRCm38)	E164*	probably null	Het
Rnf185	T	C	11: 3,426,617 (GRCm38)	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,741 (GRCm38)	E21G	probably benign	Het
Scn5a	A	G	9: 119,522,566 (GRCm38)	I783T	probably damaging	Het
Senp1	T	C	15: 98,076,668 (GRCm38)	R88G	probably damaging	Het
Skint5	A	T	4: 113,546,468 (GRCm38)		probably benign	Het
Slc35b1	T	C	11: 95,390,642 (GRCm38)	S294P	probably benign	Het
Slc5a2	T	A	7: 128,270,053 (GRCm38)	I335N	probably damaging	Het
Sstr1	T	A	12: 58,212,858 (GRCm38)	M89K	probably damaging	Het
Szt2	A	T	4: 118,384,772 (GRCm38)	S1612R	possibly damaging	Het
Taf1c	T	C	8: 119,604,236 (GRCm38)		probably null	Het
Tmem125	A	G	4: 118,542,073 (GRCm38)	S54P	possibly damaging	Het
Ttf1	T	A	2: 29,071,349 (GRCm38)	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,235,371 (GRCm38)		probably null	Het
Unc5b	A	T	10: 60,774,592 (GRCm38)	I482N	possibly damaging	Het
Unc80	C	A	1: 66,521,584 (GRCm38)	Q824K	probably benign	Het
Utrn	T	C	10: 12,726,196 (GRCm38)		probably benign	Het
Vmn2r61	T	G	7: 42,275,474 (GRCm38)	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,301 (GRCm38)	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,345,160 (GRCm38)	L240*	probably null	Het

Other mutations in Taf1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Taf1d	APN	9	15,311,603 (GRCm38)	missense	probably damaging	0.99
IGL01861:Taf1d	APN	9	15,308,739 (GRCm38)	splice site	probably null
IGL02448:Taf1d	APN	9	15,310,394 (GRCm38)	nonsense	probably null
IGL03106:Taf1d	APN	9	15,309,941 (GRCm38)	missense	possibly damaging	0.83
R0026:Taf1d	UTSW	9	15,308,648 (GRCm38)	missense	probably damaging	1.00
R0079:Taf1d	UTSW	9	15,309,944 (GRCm38)	missense	probably benign	0.08
R4298:Taf1d	UTSW	9	15,308,643 (GRCm38)	missense	probably damaging	1.00
R4379:Taf1d	UTSW	9	15,311,981 (GRCm38)	intron	probably benign
R4381:Taf1d	UTSW	9	15,311,981 (GRCm38)	intron	probably benign
R4927:Taf1d	UTSW	9	15,309,954 (GRCm38)	missense	probably damaging	0.99
R5541:Taf1d	UTSW	9	15,308,850 (GRCm38)	missense	probably damaging	0.99
R6072:Taf1d	UTSW	9	15,311,560 (GRCm38)	missense	probably benign	0.00
R6736:Taf1d	UTSW	9	15,307,823 (GRCm38)	critical splice donor site	probably null
R7527:Taf1d	UTSW	9	15,308,837 (GRCm38)	missense	possibly damaging	0.94
R8031:Taf1d	UTSW	9	15,310,399 (GRCm38)	missense	probably damaging	1.00
R8844:Taf1d	UTSW	9	15,310,028 (GRCm38)	missense	probably damaging	1.00
X0057:Taf1d	UTSW	9	15,308,520 (GRCm38)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGATTGGGAGCATGGCCTTGAAAC -3'
(R):5'- TGCTGAAAGCAAGCTGGGTGTG -3'

Sequencing Primer
(F):5'- CTCGGGGAGGATTATAGCTAATG -3'
(R):5'- GAATGGAAACACAGCTCCTTTGTC -3'

Posted On

2013-08-06