Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00337:Taf1d'

332325

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00337

Quality Score

Status

Chromosome

Chromosomal Location

15217510-15228287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 15222899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 255 (S255Y)

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 damaging
Transcript: ENSMUST00000034415
AA Change: S255Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034415
Gene: ENSMUSG00000031939
AA Change: S255Y

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 damaging
Transcript: ENSMUST00000164079
AA Change: S255Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129141
Gene: ENSMUSG00000031939
AA Change: S255Y

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: ENSMUST00000158304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198150

Predicted Effect

probably damaging
Transcript: ENSMUST00000213763
AA Change: S255Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214054
AA Change: S255Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214899

Predicted Effect

unknown
Transcript: ENSMUST00000215749
AA Change: S88Y

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214045

Predicted Effect

probably benign
Transcript: ENSMUST00000215124

Predicted Effect

probably benign
Transcript: ENSMUST00000214316

Predicted Effect

probably damaging
Transcript: ENSMUST00000216825
AA Change: S255Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216768

Predicted Effect

probably benign
Transcript: ENSMUST00000216109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216256

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1ar	A	T	3: 127,614,401 (GRCm39)		probably benign	Het
Ap1ar	A	C	3: 127,614,400 (GRCm39)		probably benign	Het
Apip	A	T	2: 102,922,257 (GRCm39)	T208S	probably benign	Het
Arhgap11a	A	G	2: 113,672,287 (GRCm39)	V227A	probably damaging	Het
Atrn	G	T	2: 130,799,999 (GRCm39)	V459F	probably damaging	Het
Cep295	T	C	9: 15,237,368 (GRCm39)		probably null	Het
Cfhr1	A	G	1: 139,484,253 (GRCm39)		probably benign	Het
D5Ertd615e	A	G	5: 45,320,769 (GRCm39)		noncoding transcript	Het
Dhx29	A	G	13: 113,101,137 (GRCm39)	I1227V	probably benign	Het
Fam98a	T	C	17: 75,858,742 (GRCm39)	D16G	probably damaging	Het
Frk	A	G	10: 34,360,239 (GRCm39)	D80G	probably damaging	Het
Gabbr2	A	T	4: 46,787,600 (GRCm39)	H354Q	probably damaging	Het
Ggps1	G	A	13: 14,228,973 (GRCm39)	S70L	probably damaging	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Hpx	T	C	7: 105,240,977 (GRCm39)	Y432C	probably damaging	Het
Hyal2	T	C	9: 107,449,371 (GRCm39)	C376R	probably damaging	Het
Il10rb	G	A	16: 91,203,227 (GRCm39)	A8T	probably benign	Het
Ing5	G	T	1: 93,733,816 (GRCm39)	M1I	probably null	Het
Kcnc4	C	T	3: 107,355,189 (GRCm39)	D420N	probably benign	Het
Kcnj8	T	C	6: 142,515,961 (GRCm39)	N49D	probably damaging	Het
Kif26b	C	A	1: 178,743,213 (GRCm39)	A656D	probably damaging	Het
Klc4	T	C	17: 46,946,361 (GRCm39)	E488G	probably damaging	Het
Mtmr4	C	T	11: 87,502,750 (GRCm39)	H878Y	probably benign	Het
Ndufaf7	T	C	17: 79,254,520 (GRCm39)		probably benign	Het
Nlrp14	T	G	7: 106,781,308 (GRCm39)	D168E	possibly damaging	Het
Ogdhl	T	C	14: 32,055,669 (GRCm39)	F251S	probably damaging	Het
Or1p1	T	C	11: 74,180,213 (GRCm39)	V247A	probably damaging	Het
P2rx5	A	T	11: 73,058,318 (GRCm39)		probably null	Het
Parp14	G	A	16: 35,661,445 (GRCm39)	T1501I	probably benign	Het
Prl3c1	C	A	13: 27,384,746 (GRCm39)	T85K	probably damaging	Het
Psg27	A	G	7: 18,295,729 (GRCm39)	Y239H	probably damaging	Het
Pzp	T	C	6: 128,493,872 (GRCm39)	R300G	probably benign	Het
Sec16a	A	G	2: 26,329,499 (GRCm39)	S839P	probably benign	Het
Sphkap	T	A	1: 83,317,329 (GRCm39)	D56V	probably damaging	Het
Srrt	C	T	5: 137,294,240 (GRCm39)		probably benign	Het
Sstr3	T	A	15: 78,424,667 (GRCm39)	T27S	probably benign	Het
Tbc1d15	C	A	10: 115,045,546 (GRCm39)	E473*	probably null	Het
Tmem247	T	C	17: 87,224,963 (GRCm39)	V24A	probably benign	Het
Txnrd2	T	C	16: 18,296,519 (GRCm39)	C494R	probably damaging	Het
Zfp180	A	G	7: 23,784,894 (GRCm39)	D5G	probably damaging	Het

Other mutations in Taf1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-08-05