Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02569:Tardbp'

298965

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tardbp

Ensembl Gene

ENSMUSG00000041459

Gene Name

TAR DNA binding protein

Synonyms

Tdp43, TDP-43, 1190002A23Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02569

Quality Score

Status

Chromosome

Chromosomal Location

148696839-148711476 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 148703639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045180] [ENSMUST00000052060] [ENSMUST00000084125] [ENSMUST00000095719] [ENSMUST00000105699] [ENSMUST00000105700] [ENSMUST00000105702] [ENSMUST00000165113] [ENSMUST00000172073] [ENSMUST00000187939] [ENSMUST00000140897] [ENSMUST00000186729] [ENSMUST00000188134] [ENSMUST00000186947] [ENSMUST00000185673] [ENSMUST00000186711] [ENSMUST00000190696] [ENSMUST00000191450] [ENSMUST00000190552] [ENSMUST00000189048]

AlphaFold

Q921F2

Predicted Effect

probably benign
Transcript: ENSMUST00000045180

SMART Domains

Protein: ENSMUSP00000038113
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	105	176	1.38e-17	SMART
RRM	192	258	7.03e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052060

SMART Domains

Protein: ENSMUSP00000049729
Gene: ENSMUSG00000028979

Domain	Start	End	E-Value	Type
CUB	18	137	4.71e-30	SMART
EGF_CA	138	181	4.32e-10	SMART
CUB	184	296	4.29e-33	SMART
CCP	300	361	1.79e-12	SMART
CCP	366	429	5.4e-7	SMART
Tryp_SPc	443	678	1.3e-82	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000084125

SMART Domains

Protein: ENSMUSP00000081142
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	105	176	1.38e-17	SMART
RRM	192	258	7.03e-10	SMART
low complexity region	273	316	N/A	INTRINSIC
low complexity region	321	329	N/A	INTRINSIC
low complexity region	342	358	N/A	INTRINSIC
low complexity region	368	380	N/A	INTRINSIC
low complexity region	386	404	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000095719

SMART Domains

Protein: ENSMUSP00000093386
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	105	176	1.38e-17	SMART
RRM	192	258	7.03e-10	SMART
low complexity region	274	285	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105699

SMART Domains

Protein: ENSMUSP00000101324
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	105	176	1.38e-17	SMART
RRM	192	258	7.03e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000105700

SMART Domains

Protein: ENSMUSP00000101325
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	105	176	1.38e-17	SMART
RRM	192	258	7.03e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000105702

SMART Domains

Protein: ENSMUSP00000101327
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	105	176	1.38e-17	SMART
RRM	192	258	7.03e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000165113

SMART Domains

Protein: ENSMUSP00000129342
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	105	176	1.38e-17	SMART
RRM	192	258	7.03e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000172073

SMART Domains

Protein: ENSMUSP00000130963
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	105	176	1.38e-17	SMART
RRM	192	258	7.03e-10	SMART
low complexity region	274	285	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000187939

SMART Domains

Protein: ENSMUSP00000140928
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	18	84	3e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140897

SMART Domains

Protein: ENSMUSP00000135135
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
Blast:RRM_2	1	28	2e-13	BLAST
RRM	44	110	3e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186729

SMART Domains

Protein: ENSMUSP00000139547
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
Pfam:RRM_1	1	37	1.8e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188134

SMART Domains

Protein: ENSMUSP00000139476
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	105	176	1.38e-17	SMART
RRM	192	258	7.03e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000185824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187937

Predicted Effect

probably benign
Transcript: ENSMUST00000186947

SMART Domains

Protein: ENSMUSP00000140529
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	105	176	5.8e-20	SMART
low complexity region	215	243	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185673

SMART Domains

Protein: ENSMUSP00000141010
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
Pfam:RRM_1	106	149	3e-12	PFAM
Pfam:RRM_6	106	149	1.3e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186711

Predicted Effect

probably benign
Transcript: ENSMUST00000147391

Predicted Effect

probably benign
Transcript: ENSMUST00000190287

Predicted Effect

probably null
Transcript: ENSMUST00000190630

Predicted Effect

probably benign
Transcript: ENSMUST00000190696

SMART Domains

Protein: ENSMUSP00000139637
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
Blast:RRM_2	55	79	8e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000191450

SMART Domains

Protein: ENSMUSP00000140832
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	105	176	5.8e-20	SMART
RRM	192	258	3e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190552

SMART Domains

Protein: ENSMUSP00000141052
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM_2	1	56	6.1e-4	SMART
RRM	72	138	3e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000189048

SMART Domains

Protein: ENSMUSP00000140364
Gene: ENSMUSG00000041459

Domain	Start	End	E-Value	Type
RRM	105	176	1.38e-17	SMART
RRM	192	258	7.03e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189041

Predicted Effect

probably benign
Transcript: ENSMUST00000188488

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous deficient mice display embryonic lethality before somite formation with impaired inner cell mass proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,034,061 (GRCm39)	D2223G	probably damaging	Het
Brd1	A	G	15: 88,598,132 (GRCm39)	L538P	probably damaging	Het
Cacna2d2	T	C	9: 107,391,245 (GRCm39)	V424A	probably damaging	Het
Capg	A	C	6: 72,538,032 (GRCm39)	E306A	probably damaging	Het
Cdc14b	T	C	13: 64,373,428 (GRCm39)	Y115C	probably benign	Het
Crat	G	A	2: 30,294,542 (GRCm39)	R509W	probably damaging	Het
Ddx60	A	G	8: 62,477,985 (GRCm39)	N1594S	possibly damaging	Het
Fabp2	T	C	3: 122,689,113 (GRCm39)	F18L	probably damaging	Het
Fam187a	A	G	11: 102,776,985 (GRCm39)	K263R	probably benign	Het
Fam227a	C	T	15: 79,518,323 (GRCm39)	C323Y	probably benign	Het
Fas	A	G	19: 34,297,962 (GRCm39)	E210G	possibly damaging	Het
Fgfbp1	A	G	5: 44,136,569 (GRCm39)	F241S	probably damaging	Het
Gramd1a	A	T	7: 30,829,932 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,573,244 (GRCm39)	M2135K	probably benign	Het
Ikbkb	G	T	8: 23,183,899 (GRCm39)	Q84K	probably damaging	Het
Kcnk9	T	C	15: 72,384,426 (GRCm39)	T251A	probably benign	Het
Mphosph9	C	A	5: 124,435,634 (GRCm39)	E600*	probably null	Het
Or2ag1	T	A	7: 106,313,793 (GRCm39)	I32L	probably benign	Het
Or2ag1b	T	A	7: 106,288,849 (GRCm39)	T30S	probably benign	Het
Pde1a	C	A	2: 79,698,602 (GRCm39)	K341N	probably benign	Het
Prune2	A	G	19: 17,156,223 (GRCm39)	N2792S	probably damaging	Het
Scart2	A	C	7: 139,878,275 (GRCm39)	I885L	probably benign	Het
Slc17a3	A	G	13: 24,030,285 (GRCm39)	Y132C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
St6galnac1	T	C	11: 116,658,528 (GRCm39)	D312G	probably damaging	Het
Tex9	C	T	9: 72,385,645 (GRCm39)	V8I	probably damaging	Het
Tpr	T	A	1: 150,301,382 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,818,129 (GRCm39)	W182*	probably null	Het
Vmn2r61	G	A	7: 41,926,070 (GRCm39)	G525E	probably damaging	Het
Zfp111	T	C	7: 23,906,494 (GRCm39)	T2A	possibly damaging	Het

Other mutations in Tardbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Tardbp	APN	4	148,706,521 (GRCm39)	missense	probably benign	0.03
R4428:Tardbp	UTSW	4	148,709,659 (GRCm39)	missense	possibly damaging	0.88
R4690:Tardbp	UTSW	4	148,697,078 (GRCm39)	makesense	probably null
R4824:Tardbp	UTSW	4	148,702,050 (GRCm39)	missense	probably benign	0.33
R4925:Tardbp	UTSW	4	148,703,108 (GRCm39)	missense	probably benign	0.11
R5057:Tardbp	UTSW	4	148,703,813 (GRCm39)	critical splice acceptor site	probably null
R5137:Tardbp	UTSW	4	148,706,494 (GRCm39)	missense	possibly damaging	0.77
R5488:Tardbp	UTSW	4	148,703,097 (GRCm39)	missense	probably benign	0.03
R5833:Tardbp	UTSW	4	148,702,117 (GRCm39)	missense	probably damaging	1.00
R8164:Tardbp	UTSW	4	148,703,060 (GRCm39)	missense	probably benign	0.00
R8862:Tardbp	UTSW	4	148,702,755 (GRCm39)	missense	possibly damaging	0.73
R8905:Tardbp	UTSW	4	148,705,093 (GRCm39)	missense	probably benign	0.01
R9664:Tardbp	UTSW	4	148,709,751 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16