Mutagenetix > Incidental Mutation

Incidental Mutation 'R6736:Taf1d'

528431

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

044854-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.893) question?

Stock #

R6736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15306214-15316991 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 15307823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150890 (fasta)

Gene Model

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

AlphaFold

Q9D4V4

Predicted Effect

probably null
Transcript: ENSMUST00000034415

SMART Domains

Protein: ENSMUSP00000034415
Gene: ENSMUSG00000031939

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104426

Predicted Effect

probably null
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: 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

noncoding transcript
Transcript: ENSMUST00000200085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213317

Predicted Effect

probably benign
Transcript: ENSMUST00000213763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213923

Predicted Effect

probably benign
Transcript: ENSMUST00000214054

Predicted Effect

probably null
Transcript: ENSMUST00000215124

Predicted Effect

probably null
Transcript: ENSMUST00000216109

Predicted Effect

probably benign
Transcript: ENSMUST00000216825

Predicted Effect

probably benign
Transcript: ENSMUST00000216955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214221

Predicted Effect

probably benign
Transcript: ENSMUST00000215749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216256

Predicted Effect

probably benign
Transcript: ENSMUST00000214316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215741

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,992,268 (GRCm38)	I83T	probably benign	Het
Aadacl4	T	G	4: 144,623,339 (GRCm38)	S389A	possibly damaging	Het
Abca13	A	T	11: 9,465,058 (GRCm38)	S4042C	probably damaging	Het
Acaca	G	A	11: 84,238,838 (GRCm38)	V340I	probably benign	Het
Acox3	T	A	5: 35,588,854 (GRCm38)		probably null	Het
Acsl6	A	C	11: 54,325,166 (GRCm38)	E124A	probably damaging	Het
Adamtsl1	T	A	4: 86,342,247 (GRCm38)	H898Q	probably damaging	Het
Agl	A	G	3: 116,781,680 (GRCm38)	S603P	probably damaging	Het
Apobec1	A	T	6: 122,581,675 (GRCm38)	M31K	probably null	Het
Armc4	C	A	18: 7,223,586 (GRCm38)	V486F	probably damaging	Het
Astn1	T	C	1: 158,511,148 (GRCm38)		probably null	Het
Atp8a1	G	T	5: 67,667,617 (GRCm38)	D790E	probably damaging	Het
Bahd1	T	G	2: 118,915,975 (GRCm38)	M25R	possibly damaging	Het
BC034090	A	T	1: 155,241,930 (GRCm38)	N147K	possibly damaging	Het
Bfsp2	G	T	9: 103,480,204 (GRCm38)	A8E	possibly damaging	Het
Brwd1	A	T	16: 96,068,572 (GRCm38)	I85N	probably damaging	Het
Ccdc24	T	A	4: 117,870,535 (GRCm38)	N145I	possibly damaging	Het
Cdhr5	G	T	7: 141,272,531 (GRCm38)	Q141K	probably damaging	Het
Cfap46	A	G	7: 139,619,971 (GRCm38)	V1998A	possibly damaging	Het
Csmd1	T	A	8: 16,002,626 (GRCm38)	Y2166F	probably damaging	Het
Cul4a	T	G	8: 13,136,219 (GRCm38)	S474A	probably benign	Het
Cutal	A	G	2: 34,888,137 (GRCm38)	T112A	probably benign	Het
Dcaf6	A	C	1: 165,399,785 (GRCm38)	S258A	possibly damaging	Het
Dek	C	T	13: 47,099,390 (GRCm38)	V180M	probably damaging	Het
Dspp	C	A	5: 104,178,175 (GRCm38)	D801E	unknown	Het
Egflam	T	C	15: 7,219,725 (GRCm38)	T871A	probably damaging	Het
Erbin	A	T	13: 103,834,766 (GRCm38)	S781T	possibly damaging	Het
Erich6	A	T	3: 58,625,054 (GRCm38)	H377Q	probably damaging	Het
Exo5	C	A	4: 120,921,756 (GRCm38)	G304V	probably damaging	Het
Eya2	C	A	2: 165,716,037 (GRCm38)	S184R	possibly damaging	Het
Fhod1	G	A	8: 105,337,890 (GRCm38)		probably benign	Het
G6pc3	A	G	11: 102,193,670 (GRCm38)	Y302C	possibly damaging	Het
Gart	T	C	16: 91,636,107 (GRCm38)	D318G	probably benign	Het
Gm10300	T	C	4: 132,074,935 (GRCm38)		probably benign	Het
Gm11937	A	G	11: 99,610,074 (GRCm38)	V39A	probably damaging	Het
Gm16432	T	A	1: 178,017,712 (GRCm38)	Y99*	probably null	Het
Gm21994	T	A	2: 150,255,278 (GRCm38)	Y77F	possibly damaging	Het
Gnas	T	C	2: 174,334,251 (GRCm38)	M60T	probably damaging	Het
Grk5	G	T	19: 60,890,626 (GRCm38)	R16L	probably damaging	Het
Hcn3	A	G	3: 89,152,674 (GRCm38)	L221P	probably damaging	Het
Hddc3	G	A	7: 80,343,196 (GRCm38)	R20Q	possibly damaging	Het
Hectd4	T	C	5: 121,277,725 (GRCm38)	Y530H	possibly damaging	Het
Igf2bp1	A	T	11: 95,973,122 (GRCm38)	H247Q	probably benign	Het
Igkv4-70	T	A	6: 69,267,928 (GRCm38)	D103V	probably damaging	Het
Itpr2	T	A	6: 146,325,170 (GRCm38)	M1359L	probably damaging	Het
Kalrn	A	G	16: 34,217,923 (GRCm38)	L1013S	probably damaging	Het
Kctd21	C	T	7: 97,348,084 (GRCm38)	R255W	probably damaging	Het
Krt18	T	A	15: 102,030,769 (GRCm38)	Y263N	probably benign	Het
Lamp5	C	G	2: 136,059,563 (GRCm38)	N102K	possibly damaging	Het
Larp1	G	A	11: 58,042,647 (GRCm38)		probably null	Het
Lmnb1	A	G	18: 56,728,469 (GRCm38)	N144S	probably damaging	Het
Lrp2	T	A	2: 69,448,211 (GRCm38)	T3933S	probably benign	Het
Lrrc34	T	C	3: 30,624,859 (GRCm38)	N363S	probably benign	Het
Lrriq1	T	C	10: 103,181,889 (GRCm38)		probably null	Het
Mafa	C	A	15: 75,747,780 (GRCm38)	G48V	unknown	Het
Mboat4	T	C	8: 34,124,521 (GRCm38)	S371P	possibly damaging	Het
Mei4	A	T	9: 82,025,624 (GRCm38)	M237L	probably benign	Het
Mfsd2a	T	C	4: 122,951,261 (GRCm38)	D219G	probably benign	Het
Msl2	A	G	9: 101,101,002 (GRCm38)	N192D	probably damaging	Het
Mycbp2	C	A	14: 103,191,567 (GRCm38)	R2358M	probably null	Het
Myh10	A	G	11: 68,745,339 (GRCm38)	T185A	probably damaging	Het
Nipsnap2	T	C	5: 129,745,288 (GRCm38)		probably null	Het
Notch1	T	C	2: 26,460,286 (GRCm38)	T2281A	probably benign	Het
Olfr1165-ps	C	A	2: 88,101,603 (GRCm38)	C128F	probably benign	Het
Olfr1436	G	A	19: 12,298,572 (GRCm38)	Q187*	probably null	Het
Olfr376	G	T	11: 73,375,576 (GRCm38)	V276F	probably benign	Het
Olfr533	G	T	7: 140,466,921 (GRCm38)	C240F	probably damaging	Het
Olfr533	T	C	7: 140,466,887 (GRCm38)	S229P	probably damaging	Het
Olfr735	A	T	14: 50,345,448 (GRCm38)	N300K	probably damaging	Het
Olfr895	T	A	9: 38,268,570 (GRCm38)	I19N	probably damaging	Het
Olfr948	A	G	9: 39,318,793 (GRCm38)	S274P	probably damaging	Het
Oxct1	T	A	15: 4,092,417 (GRCm38)	S283T	probably benign	Het
Pcnx2	G	T	8: 125,752,317 (GRCm38)		probably null	Het
Piwil4	A	G	9: 14,715,823 (GRCm38)	F424L	probably benign	Het
Pkhd1l1	T	C	15: 44,557,940 (GRCm38)	S3035P	probably damaging	Het
Psmc2	T	A	5: 21,800,576 (GRCm38)	D218E	probably damaging	Het
Ptpn7	C	T	1: 135,139,236 (GRCm38)	P277L	probably benign	Het
Rgs12	A	G	5: 35,023,092 (GRCm38)	K27E	probably damaging	Het
Rp1l1	G	T	14: 64,029,724 (GRCm38)	A920S	possibly damaging	Het
Rsbn1l	A	T	5: 20,908,224 (GRCm38)	H433Q	probably benign	Het
Safb	C	A	17: 56,606,023 (GRCm38)	P913Q	possibly damaging	Het
Sema7a	G	A	9: 57,960,571 (GRCm38)	V477M	probably damaging	Het
Serpina16	T	A	12: 103,668,932 (GRCm38)	T408S	possibly damaging	Het
Six5	G	A	7: 19,094,991 (GRCm38)	V119M	possibly damaging	Het
Slc6a16	C	T	7: 45,259,028 (GRCm38)	P11S	possibly damaging	Het
Smg1	A	G	7: 118,157,166 (GRCm38)		probably benign	Het
Sntg1	T	A	1: 8,445,050 (GRCm38)	I420F	probably benign	Het
Sptb	T	C	12: 76,613,180 (GRCm38)	D982G	possibly damaging	Het
Stag3	T	A	5: 138,301,499 (GRCm38)	F891I	probably damaging	Het
Sugp1	A	G	8: 70,059,303 (GRCm38)	E183G	probably benign	Het
Tapbp	T	C	17: 33,919,957 (GRCm38)	S33P	possibly damaging	Het
Ubap2	CT	CTTGCCCCGGT	4: 41,227,224 (GRCm38)		probably benign	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm38)		probably benign	Het
Ubash3a	A	G	17: 31,231,415 (GRCm38)	T355A	probably benign	Het
Usp16	T	G	16: 87,470,397 (GRCm38)	V225G	probably damaging	Het
Utrn	A	G	10: 12,621,303 (GRCm38)	V2454A	probably benign	Het
Vmn1r191	G	T	13: 22,179,550 (GRCm38)	F11L	probably benign	Het
Vmn2r117	A	T	17: 23,478,308 (GRCm38)	C137S	probably damaging	Het
Zfp143	T	C	7: 110,091,814 (GRCm38)	M524T	probably damaging	Het
Zfp599	A	G	9: 22,249,844 (GRCm38)	C342R	probably damaging	Het
Zfp777	T	G	6: 48,024,856 (GRCm38)	K811Q	probably damaging	Het
Zfp870	T	A	17: 32,883,596 (GRCm38)	H254L	probably benign	Het

Other mutations in Taf1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Taf1d	APN	9	15,311,603 (GRCm38)	missense	probably damaging	0.99
IGL01861:Taf1d	APN	9	15,308,739 (GRCm38)	splice site	probably null
IGL02448:Taf1d	APN	9	15,310,394 (GRCm38)	nonsense	probably null
IGL03106:Taf1d	APN	9	15,309,941 (GRCm38)	missense	possibly damaging	0.83
R0026:Taf1d	UTSW	9	15,308,648 (GRCm38)	missense	probably damaging	1.00
R0026:Taf1d	UTSW	9	15,308,648 (GRCm38)	missense	probably damaging	1.00
R0079:Taf1d	UTSW	9	15,309,944 (GRCm38)	missense	probably benign	0.08
R4298:Taf1d	UTSW	9	15,308,643 (GRCm38)	missense	probably damaging	1.00
R4379:Taf1d	UTSW	9	15,311,981 (GRCm38)	intron	probably benign
R4381:Taf1d	UTSW	9	15,311,981 (GRCm38)	intron	probably benign
R4927:Taf1d	UTSW	9	15,309,954 (GRCm38)	missense	probably damaging	0.99
R5541:Taf1d	UTSW	9	15,308,850 (GRCm38)	missense	probably damaging	0.99
R6072:Taf1d	UTSW	9	15,311,560 (GRCm38)	missense	probably benign	0.00
R7527:Taf1d	UTSW	9	15,308,837 (GRCm38)	missense	possibly damaging	0.94
R8031:Taf1d	UTSW	9	15,310,399 (GRCm38)	missense	probably damaging	1.00
R8844:Taf1d	UTSW	9	15,310,028 (GRCm38)	missense	probably damaging	1.00
X0057:Taf1d	UTSW	9	15,308,520 (GRCm38)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TTACAGAAATTCACACAGTGGGAAG -3'
(R):5'- TCCTACATGTTCAGGTTGGTAG -3'

Sequencing Primer
(F):5'- GGAGTATGCTGAACTTAGACTGC -3'
(R):5'- CAAGCATTACAAATAACTTGCTGGAG -3'

Posted On

2018-07-24