Mutagenetix > Incidental Mutation

Incidental Mutation 'R0079:Taf1d'

19615

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

038366-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.852) question?

Stock #

R0079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15217510-15228287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15221240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 182 (A182V)

Ref Sequence

ENSEMBL: ENSMUSP00000149377 (fasta)

Gene Model

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

AlphaFold

Q9D4V4

Predicted Effect

probably benign
Transcript: ENSMUST00000034415
AA Change: A182V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034415
Gene: ENSMUSG00000031939
AA Change: A182V

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

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 benign
Transcript: ENSMUST00000164079
AA Change: A182V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000129141
Gene: ENSMUSG00000031939
AA Change: A182V

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

noncoding transcript
Transcript: ENSMUST00000198150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200085

Predicted Effect

probably benign
Transcript: ENSMUST00000213763
AA Change: A182V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000214054
AA Change: A182V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

unknown
Transcript: ENSMUST00000215749
AA Change: A15V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213923

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: ENSMUST00000213235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213317

Predicted Effect

probably benign
Transcript: ENSMUST00000214316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214899

Predicted Effect

probably benign
Transcript: ENSMUST00000216825
AA Change: A182V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000216955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216256

Predicted Effect

probably benign
Transcript: ENSMUST00000216109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216768

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

78% (155/199)

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
2410004P03Rik	T	A	12: 17,057,183 (GRCm39)	T105S	possibly damaging	Het
Abca13	G	A	11: 9,243,493 (GRCm39)	M1785I	probably benign	Het
Adamts3	G	C	5: 89,840,912 (GRCm39)	P804A	probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Ank2	G	T	3: 126,728,264 (GRCm39)	D776E	probably benign	Het
Cep152	T	A	2: 125,460,373 (GRCm39)	K193M	possibly damaging	Het
Cep55	C	T	19: 38,048,769 (GRCm39)	L142F	probably benign	Het
Chd5	A	G	4: 152,470,206 (GRCm39)	Y1884C	probably damaging	Het
Clasp1	T	C	1: 118,471,034 (GRCm39)	L890P	probably damaging	Het
Cul9	C	A	17: 46,848,589 (GRCm39)	E716*	probably null	Het
Cytip	T	A	2: 58,050,006 (GRCm39)	D21V	probably benign	Het
Denr	T	G	5: 124,062,908 (GRCm39)	F137C	probably damaging	Het
Dhrs3	A	T	4: 144,646,618 (GRCm39)	S197C	probably damaging	Het
Egr4	A	T	6: 85,489,751 (GRCm39)	M103K	probably damaging	Het
Eif4enif1	C	T	11: 3,192,676 (GRCm39)	Q835*	probably null	Het
Gckr	A	G	5: 31,463,883 (GRCm39)	I268V	probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Hpd	T	C	5: 123,319,544 (GRCm39)	Y8C	probably damaging	Het
Il12rb2	A	T	6: 67,338,889 (GRCm39)	F16I	probably benign	Het
Ildr2	A	T	1: 166,135,289 (GRCm39)	Y347F	probably damaging	Het
Kcnv1	T	C	15: 44,976,729 (GRCm39)	D186G	probably damaging	Het
Khdrbs2	A	G	1: 32,558,996 (GRCm39)		probably null	Het
L1cam	G	T	X: 72,913,364 (GRCm39)	P16H	probably damaging	Het
Lyn	A	G	4: 3,746,768 (GRCm39)	H161R	probably damaging	Het
Mctp2	T	A	7: 71,863,864 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mitf	A	C	6: 97,973,401 (GRCm39)	M220L	probably benign	Het
Mrpl21	T	C	19: 3,334,807 (GRCm39)	Y50H	possibly damaging	Het
Myh1	T	A	11: 67,104,237 (GRCm39)	L968Q	probably damaging	Het
Myo3b	A	G	2: 69,925,502 (GRCm39)	K18E	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,330,729 (GRCm39)	T556S	possibly damaging	Het
Nsmf	T	C	2: 24,949,096 (GRCm39)		probably benign	Het
Nsun7	C	T	5: 66,452,856 (GRCm39)	P558S	probably benign	Het
Or10h5	G	A	17: 33,435,079 (GRCm39)	R80C	probably benign	Het
Or1e34	T	G	11: 73,778,563 (GRCm39)	I212L	probably benign	Het
Or56a3	T	C	7: 104,735,135 (GRCm39)	S71P	probably damaging	Het
Or5d40	A	T	2: 88,015,698 (GRCm39)	Y159F	possibly damaging	Het
Phf19	T	C	2: 34,785,966 (GRCm39)	N501S	probably benign	Het
Ranbp17	A	C	11: 33,450,682 (GRCm39)	I85S	probably damaging	Het
Robo1	A	G	16: 72,730,230 (GRCm39)		probably benign	Het
Sntg1	A	G	1: 8,749,286 (GRCm39)		probably benign	Het
Snx15	A	G	19: 6,173,943 (GRCm39)	L58P	probably damaging	Het
Spink5	G	T	18: 44,110,831 (GRCm39)	C134F	probably damaging	Het
Strip2	T	C	6: 29,920,532 (GRCm39)		probably null	Het
Tenm3	A	G	8: 48,796,380 (GRCm39)	V475A	possibly damaging	Het
Tent4b	T	A	8: 88,926,631 (GRCm39)	Y14N	possibly damaging	Het
Tgds	A	T	14: 118,353,647 (GRCm39)	H223Q	possibly damaging	Het
Thoc2	G	T	X: 40,952,985 (GRCm39)	S230Y	probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Trak2	A	T	1: 58,965,883 (GRCm39)	L97Q	probably damaging	Het
Trnau1ap	A	G	4: 132,041,656 (GRCm39)	Y145H	probably damaging	Het
Vars2	A	T	17: 35,970,048 (GRCm39)	D780E	probably damaging	Het
Vmn1r170	T	A	7: 23,305,735 (GRCm39)	S46T	possibly damaging	Het
Vmn1r20	A	T	6: 57,408,777 (GRCm39)	R34S	possibly damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Wdr64	T	C	1: 175,622,668 (GRCm39)	M805T	probably benign	Het
Xdh	G	A	17: 74,198,213 (GRCm39)	R1225C	probably damaging	Het
Zfp341	T	A	2: 154,466,914 (GRCm39)	Y94*	probably null	Het
Zfp641	T	C	15: 98,186,970 (GRCm39)	N218D	probably benign	Het
Zscan22	T	C	7: 12,638,014 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTCCTTTTGATGAACGGCAAGC -3'
(R):5'- TCCTCCCAAAGCTGATGTCCTGTG -3'

Sequencing Primer
(F):5'- CGGCAAGCCATTGTTTATTTAGC -3'
(R):5'- gcacttgagaggcaggtaaatg -3'

Posted On

2013-04-11