Mutagenetix > Incidental Mutations

Incidental Mutation 'R8031:Taf1d'

617955

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.791) question?

Stock #

R8031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15306214-15316991 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 15310399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 226 (I226S)

Ref Sequence

ENSEMBL: ENSMUSP00000034415 (fasta)

Gene Model

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

AlphaFold

Q9D4V4

Predicted Effect

probably damaging
Transcript: ENSMUST00000034415
AA Change: I226S

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

SMART Domains

Protein: ENSMUSP00000034415
Gene: ENSMUSG00000031939
AA Change: I226S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164079
AA Change: I226S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129141
Gene: ENSMUSG00000031939
AA Change: I226S

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

probably damaging
Transcript: ENSMUST00000213763
AA Change: I226S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214054
AA Change: I226S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000214316

Predicted Effect

probably benign
Transcript: ENSMUST00000215124

Predicted Effect

probably benign
Transcript: ENSMUST00000216109

Predicted Effect

probably damaging
Transcript: ENSMUST00000216825
AA Change: I226S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000216955

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

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
Ace3	T	C	11: 105,998,098		probably null	Het
Arhgdib	A	G	6: 136,924,276	Y152H	probably benign	Het
Atxn10	T	G	15: 85,393,393	S354A	probably benign	Het
Cacng6	T	C	7: 3,424,885	V75A	possibly damaging	Het
Cdc23	A	G	18: 34,651,688	V7A	unknown	Het
Cdc40	T	A	10: 40,852,516	E157D	probably benign	Het
Defa25	T	A	8: 21,085,237	N77K	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Efcab6	T	C	15: 83,983,498	K260E	possibly damaging	Het
Eif4a3	T	C	11: 119,288,905	Y352C	probably damaging	Het
Erc2	A	T	14: 28,011,692	K566N	probably damaging	Het
Fam3b	A	C	16: 97,481,852	Y74*	probably null	Het
Flg2	T	A	3: 93,220,214	S2144R	unknown	Het
Fmo4	G	T	1: 162,798,852	S375*	probably null	Het
Fsip2	A	G	2: 82,986,891	T4323A	probably benign	Het
Gm11639	T	C	11: 104,881,469	V2659A	possibly damaging	Het
Gm16503	A	T	4: 147,541,310	H87L	unknown	Het
Hes7	C	T	11: 69,122,765	A150V	probably damaging	Het
Hk1	T	A	10: 62,296,699	N190I	probably benign	Het
Il17rc	A	G	6: 113,482,821	D576G	probably damaging	Het
Inhba	T	A	13: 16,026,275	S141T	possibly damaging	Het
Itga8	G	T	2: 12,155,486	D840E	probably benign	Het
Kazn	T	C	4: 142,154,551	E126G		Het
Kcnk13	A	G	12: 99,966,179	Y78C	probably damaging	Het
Kcnt1	C	A	2: 25,908,042		probably benign	Het
Krt42	G	C	11: 100,265,039	R294G	possibly damaging	Het
Myo9a	A	G	9: 59,780,091	K160E	probably benign	Het
Nlrp1b	T	C	11: 71,216,921	R585G	probably benign	Het
Ntrk2	T	C	13: 58,874,379	I416T	probably benign	Het
Olfr1080	G	A	2: 86,554,103	T7I	probably damaging	Het
Olfr1217	A	T	2: 89,023,628	I125N	probably damaging	Het
Olfr177	T	C	16: 58,872,691	N153S	probably benign	Het
Olfr652	T	A	7: 104,565,109	I296N	probably damaging	Het
P4ha3	A	G	7: 100,292,698	E106G	probably damaging	Het
Pcif1	A	G	2: 164,886,522	N233S	probably damaging	Het
Pgm2l1	C	A	7: 100,272,418	R619S	probably damaging	Het
Pkhd1l1	A	G	15: 44,512,834	Q964R	probably damaging	Het
Pla2g4a	T	A	1: 149,901,213	I89F	possibly damaging	Het
Ppp1cc	G	A	5: 122,174,088	A306T	probably benign	Het
Psmd4	T	C	3: 95,035,892	D67G	probably damaging	Het
Ptprt	G	A	2: 162,135,457	T307I	probably damaging	Het
Rnf213	C	A	11: 119,430,281	C1188*	probably null	Het
Ror2	C	T	13: 53,113,157	C426Y	probably damaging	Het
Sacs	C	T	14: 61,204,191	H1229Y	probably damaging	Het
Slc25a25	A	T	2: 32,421,505	L118Q	probably damaging	Het
Slc38a6	G	A	12: 73,350,603	A340T	probably benign	Het
Smarca5	A	T	8: 80,704,682	Y969N	probably damaging	Het
Sorbs1	C	A	19: 40,326,489	M626I	probably benign	Het
Spink5	T	A	18: 44,010,236	D753E	probably benign	Het
Tmem225	A	G	9: 40,149,393	I83V	possibly damaging	Het
Top2b	A	G	14: 16,412,986	D965G	probably damaging	Het
Traf3ip1	A	G	1: 91,501,419	K303E	probably damaging	Het
Ube2n	C	T	10: 95,541,382	R70C	probably benign	Het
Ubl7	C	T	9: 57,923,206	P312S	probably damaging	Het
Vmn1r34	A	T	6: 66,637,181	M191K	probably damaging	Het
Vmn2r103	C	T	17: 19,793,497	H184Y	probably benign	Het
Vmn2r104	T	C	17: 20,042,786	I138V	probably benign	Het
Vmn2r49	T	C	7: 9,986,481	E361G	possibly damaging	Het
Vmn2r78	T	C	7: 86,954,867	L751P	probably damaging	Het
Zc3h13	T	A	14: 75,330,630	I1121N	not run	Het
Zfp235	T	A	7: 24,141,689	V511E	probably benign	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	splice site	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
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
R8844:Taf1d	UTSW	9	15310028	missense	probably damaging	1.00
X0057:Taf1d	UTSW	9	15308520	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGTGTGCCATCTATAAAATGAAGATC -3'
(R):5'- GCTTCAGACCCCAACACTTG -3'

Sequencing Primer
(F):5'- TCAGTAGTAATCGTAACTTCTAGTCC -3'
(R):5'- CCTTGGTTATCAAATAGCCT -3'

Posted On

2020-01-23