Mutagenetix > Incidental Mutation

Incidental Mutation 'R6072:Taf1d'

482540

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.852) question?

Stock #

R6072 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15217510-15228287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15222856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 241 (S241P)

Ref Sequence

ENSEMBL: ENSMUSP00000149377 (fasta)

Gene Model

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

AlphaFold

Q9D4V4

Predicted Effect

probably benign
Transcript: ENSMUST00000034415
AA Change: S241P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034415
Gene: ENSMUSG00000031939
AA Change: S241P

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: ENSMUST00000082863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104426

Predicted Effect

probably benign
Transcript: ENSMUST00000164079
AA Change: S241P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000129141
Gene: ENSMUSG00000031939
AA Change: S241P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158304

Predicted Effect

probably benign
Transcript: ENSMUST00000213763
AA Change: S241P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

unknown
Transcript: ENSMUST00000215749
AA Change: S74P

Predicted Effect

probably benign
Transcript: ENSMUST00000214054
AA Change: S241P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214899

Predicted Effect

probably benign
Transcript: ENSMUST00000214316

Predicted Effect

probably benign
Transcript: ENSMUST00000215124

Predicted Effect

probably benign
Transcript: ENSMUST00000216825
AA Change: S241P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216768

Predicted Effect

probably benign
Transcript: ENSMUST00000216109

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,357 (GRCm39)	M92K	probably benign	Het
Abca15	T	A	7: 119,987,481 (GRCm39)	C1256S	probably damaging	Het
Asic2	A	G	11: 80,784,914 (GRCm39)	S291P	probably damaging	Het
Asph	A	G	4: 9,643,533 (GRCm39)		probably null	Het
Ccdc57	T	A	11: 120,792,901 (GRCm39)	K284N	probably damaging	Het
Cfap210	A	T	2: 69,602,402 (GRCm39)	D336E	probably benign	Het
Dnm3	CAGCCTTCGTTGGGTG	C	1: 161,838,637 (GRCm39)		probably benign	Het
Dop1a	G	A	9: 86,389,750 (GRCm39)	S558N	probably benign	Het
F830045P16Rik	T	A	2: 129,314,614 (GRCm39)	Q221L	probably damaging	Het
Gm10146	A	G	10: 78,229,332 (GRCm39)		noncoding transcript	Het
Gys2	T	G	6: 142,374,263 (GRCm39)	D594A	probably damaging	Het
Irf9	A	G	14: 55,843,284 (GRCm39)	E114G	probably damaging	Het
Itpr2	T	G	6: 146,248,609 (GRCm39)	K1082T	probably damaging	Het
Krt14	C	T	11: 100,097,992 (GRCm39)	G97D	unknown	Het
Lmo7	A	T	14: 102,166,772 (GRCm39)		probably benign	Het
Nckap5l	A	T	15: 99,324,535 (GRCm39)	L656Q	probably damaging	Het
Ndufs8	T	C	19: 3,959,275 (GRCm39)	T129A	probably damaging	Het
Nosip	G	A	7: 44,726,072 (GRCm39)	V187M	possibly damaging	Het
Or4l1	A	T	14: 50,166,606 (GRCm39)	Y132N	probably damaging	Het
Or7g18	G	A	9: 18,786,718 (GRCm39)	V29I	probably benign	Het
Phf3	A	C	1: 30,869,769 (GRCm39)	N426K	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Pphln1-ps1	T	C	16: 13,495,353 (GRCm39)	S151P	probably damaging	Het
Ptpru	A	G	4: 131,503,539 (GRCm39)	S1164P	probably damaging	Het
Rcan1	T	C	16: 92,262,815 (GRCm39)	D51G	probably benign	Het
Rem1	A	G	2: 152,476,437 (GRCm39)	T232A	probably benign	Het
Slc1a3	T	A	15: 8,738,052 (GRCm39)	I59F	probably damaging	Het
Slc23a4	T	C	6: 34,925,357 (GRCm39)	K491E	probably benign	Het
Slc6a5	T	A	7: 49,561,943 (GRCm39)	D158E	probably damaging	Het
Smarca4	A	G	9: 21,611,417 (GRCm39)	N1510S	probably damaging	Het
Thada	T	C	17: 84,499,434 (GRCm39)	D1921G	possibly damaging	Het
Tmem147	A	T	7: 30,427,445 (GRCm39)	M99K	possibly damaging	Het
Tulp1	T	C	17: 28,582,758 (GRCm39)	E130G	possibly damaging	Het
Tyw1	T	C	5: 130,296,752 (GRCm39)	V123A	possibly damaging	Het
Wdr75	T	C	1: 45,838,211 (GRCm39)	V40A	probably damaging	Het
Zfp683	T	C	4: 133,783,057 (GRCm39)	Y174H	probably benign	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
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
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'- TTCTAGCCCTGAAAAGCCAG -3'
(R):5'- GTTCTTGATCTACTTGGCATACACTG -3'

Sequencing Primer
(F):5'- GCCCTGAAAAGCCAGTATTTTTAACC -3'
(R):5'- GATCTACTTGGCATACACTGTTATC -3'

Posted On

2017-07-14