Mutagenetix > Incidental Mutation

Incidental Mutation 'R4379:Taf1d'

325252

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

041677-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R4379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15217510-15228287 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 15223277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034415] [ENSMUST00000214054] [ENSMUST00000213763] [ENSMUST00000164079] [ENSMUST00000161132] [ENSMUST00000216825] [ENSMUST00000216109] [ENSMUST00000215124]

AlphaFold

Q9D4V4

Predicted Effect

unknown
Transcript: ENSMUST00000034415
AA Change: L310Q

SMART Domains

Protein: ENSMUSP00000034415
Gene: ENSMUSG00000031939
AA Change: L310Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000058041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000059410

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

noncoding transcript
Transcript: ENSMUST00000200085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213923

Predicted Effect

probably benign
Transcript: ENSMUST00000160946

SMART Domains

Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111

Domain	Start	End	E-Value	Type
coiled coil region	92	119	N/A	INTRINSIC
low complexity region	282	293	N/A	INTRINSIC
low complexity region	356	370	N/A	INTRINSIC
coiled coil region	451	480	N/A	INTRINSIC
low complexity region	828	843	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213235

Predicted Effect

probably benign
Transcript: ENSMUST00000213763

Predicted Effect

probably benign
Transcript: ENSMUST00000164079

SMART Domains

Protein: ENSMUSP00000129141
Gene: ENSMUSG00000031939

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161132

SMART Domains

Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111

Domain	Start	End	E-Value	Type
low complexity region	111	127	N/A	INTRINSIC
coiled coil region	210	240	N/A	INTRINSIC
coiled coil region	488	535	N/A	INTRINSIC
coiled coil region	813	841	N/A	INTRINSIC
coiled coil region	1300	1327	N/A	INTRINSIC
low complexity region	1489	1500	N/A	INTRINSIC
low complexity region	1563	1577	N/A	INTRINSIC
coiled coil region	1659	1688	N/A	INTRINSIC
low complexity region	2035	2050	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000216825

Predicted Effect

probably benign
Transcript: ENSMUST00000216109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216256

Predicted Effect

probably benign
Transcript: ENSMUST00000215124

Predicted Effect

probably benign
Transcript: ENSMUST00000214316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216768

Predicted Effect

probably benign
Transcript: ENSMUST00000215749

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (53/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,915,875 (GRCm39)	H1252Q	probably benign	Het
Adcy3	T	C	12: 4,184,558 (GRCm39)	L78P	probably damaging	Het
Agmat	G	T	4: 141,484,802 (GRCm39)	A282S	probably benign	Het
Akap8	G	T	17: 32,525,534 (GRCm39)	T515K	probably damaging	Het
Akap8l	T	C	17: 32,540,488 (GRCm39)		probably benign	Het
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
AW209491	T	C	13: 14,812,412 (GRCm39)	*422Q	probably null	Het
Cdan1	A	G	2: 120,557,099 (GRCm39)	F576L	probably damaging	Het
Cers5	A	G	15: 99,649,134 (GRCm39)	F45L	probably damaging	Het
Dst	A	G	1: 34,267,056 (GRCm39)	I5011V	probably benign	Het
Dst	T	C	1: 34,202,316 (GRCm39)	S215P	probably damaging	Het
En1	A	G	1: 120,531,084 (GRCm39)	N108S	possibly damaging	Het
Entrep3	A	T	3: 89,093,064 (GRCm39)	D274V	probably damaging	Het
Fancd2	T	C	6: 113,538,677 (GRCm39)	S591P	probably benign	Het
Glt1d1	T	C	5: 127,771,346 (GRCm39)	V279A	possibly damaging	Het
Gm10051	C	T	5: 133,504,287 (GRCm39)		noncoding transcript	Het
Gpr158	G	T	2: 21,830,025 (GRCm39)	G690V	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Grm7	T	A	6: 111,223,335 (GRCm39)	N458K	probably benign	Het
Hibadh	G	A	6: 52,597,027 (GRCm39)	S139L	probably damaging	Het
Hivep1	C	T	13: 42,308,906 (GRCm39)	S382F	probably damaging	Het
Ift74	A	G	4: 94,568,171 (GRCm39)	N403D	probably benign	Het
Igkv4-81	A	G	6: 68,967,933 (GRCm39)	L56S	probably damaging	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lmbr1l	G	T	15: 98,807,144 (GRCm39)	C212*	probably null	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Lrrc34	A	G	3: 30,685,524 (GRCm39)	L275P	probably damaging	Het
Mgam2-ps	T	C	6: 40,810,793 (GRCm39)		noncoding transcript	Het
Mief1	T	G	15: 80,132,160 (GRCm39)	M77R	possibly damaging	Het
Neurod6	T	C	6: 55,656,257 (GRCm39)	T127A	probably damaging	Het
Nif3l1	A	C	1: 58,494,738 (GRCm39)		probably benign	Het
Nlrp12	T	A	7: 3,288,554 (GRCm39)	T653S	probably benign	Het
Nol7	G	T	13: 43,555,051 (GRCm39)	W228L	probably damaging	Het
Nrp1	G	A	8: 129,194,948 (GRCm39)	R468H	probably damaging	Het
Or5ac15	C	T	16: 58,940,027 (GRCm39)	M135I	probably benign	Het
Or7g34	A	G	9: 19,478,038 (GRCm39)	L211P	probably benign	Het
Pbrm1	A	T	14: 30,789,663 (GRCm39)	H785L	probably damaging	Het
Pus7	T	C	5: 23,953,864 (GRCm39)		probably benign	Het
Qser1	G	T	2: 104,596,404 (GRCm39)		probably null	Het
Rrm1	T	C	7: 102,095,800 (GRCm39)	V51A	probably damaging	Het
Setbp1	T	C	18: 79,129,896 (GRCm39)	N112S	probably damaging	Het
Svil	C	T	18: 5,046,909 (GRCm39)	H52Y	probably damaging	Het
Tle1	ACAGGTTTCTTCAGGTTTCTT	ACAGGTTTCTT	4: 72,036,400 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,667,424 (GRCm39)	Y103C	probably damaging	Het
Trim28	A	T	7: 12,763,407 (GRCm39)	D516V	probably damaging	Het
Usp34	T	A	11: 23,334,499 (GRCm39)	N1164K	possibly damaging	Het
Vmn2r115	A	G	17: 23,564,197 (GRCm39)	Y123C	possibly damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp28	C	T	7: 6,396,441 (GRCm39)	T292I	probably benign	Het
Zmynd8	A	T	2: 165,649,858 (GRCm39)		probably null	Het
Zscan4d	A	G	7: 10,898,905 (GRCm39)	V124A	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
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'- ATAAACTTGCTGGTGGAACGC -3'
(R):5'- TGTGGGTTCGAAGAGAAAGCTC -3'

Sequencing Primer
(F):5'- CTTGCTGGTGGAACGCTAATAAATAC -3'
(R):5'- TGGGTACTGCACACATATGC -3'

Posted On

2015-07-06