Mutagenetix > Incidental Mutation

Incidental Mutation 'R8164:Tardbp'

633661

Institutional Source

Beutler Lab

Gene Symbol

Tardbp

Ensembl Gene

ENSMUSG00000041459

Gene Name

TAR DNA binding protein

Synonyms

Tdp43, TDP-43, 1190002A23Rik

MMRRC Submission

067590-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148696839-148711476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148703060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 301 (N301K)

Ref Sequence

ENSEMBL: ENSMUSP00000081142 (fasta)

Gene Model

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

AlphaFold

Q921F2

PDB Structure

Crystal structure of mouse TDP-43 RRM2 domain in complex with DNA [X-RAY DIFFRACTION]

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 benign
Transcript: ENSMUST00000084125
AA Change: N301K

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

SMART Domains

Protein: ENSMUSP00000081142
Gene: ENSMUSG00000041459
AA Change: N301K

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 benign
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 benign
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 benign
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 benign
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 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: ENSMUST00000147391

Predicted Effect

probably benign
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 benign
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 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: ENSMUST00000185824

Predicted Effect

probably benign
Transcript: ENSMUST00000186711

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: 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: ENSMUST00000187939

SMART Domains

Protein: ENSMUSP00000140928
Gene: ENSMUSG00000041459

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

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 benign
Transcript: ENSMUST00000188488

Predicted Effect

probably benign
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: ENSMUST00000190287

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 benign
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: ENSMUST00000191378

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (49/50)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,767,454 (GRCm39)	V347A	probably benign	Het
Abca13	A	T	11: 9,565,799 (GRCm39)	I4808F	probably damaging	Het
Acaa2	C	A	18: 74,928,318 (GRCm39)	Y182*	probably null	Het
Ankrd44	A	T	1: 54,703,138 (GRCm39)	N644K	probably damaging	Het
Aurkaip1	T	A	4: 155,916,962 (GRCm39)	M70K	probably damaging	Het
Brinp1	A	T	4: 68,681,158 (GRCm39)	Y457*	probably null	Het
Brox	A	T	1: 183,062,491 (GRCm39)	C288S	possibly damaging	Het
Ccdc57	C	T	11: 120,788,788 (GRCm39)	R353H	probably benign	Het
Cdhr1	A	T	14: 36,801,499 (GRCm39)	S815T	probably damaging	Het
Cnih4	A	G	1: 180,989,691 (GRCm39)	I101M	probably damaging	Het
Ctsj	T	C	13: 61,150,334 (GRCm39)	T222A	probably benign	Het
Dab2	C	A	15: 6,460,449 (GRCm39)	D452E	possibly damaging	Het
Dnah3	A	G	7: 119,566,837 (GRCm39)	I2463T	probably damaging	Het
Dync1h1	A	G	12: 110,582,794 (GRCm39)	T326A	possibly damaging	Het
F10	A	G	8: 13,100,781 (GRCm39)	T232A	probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gcdh	A	G	8: 85,619,181 (GRCm39)	S128P	probably damaging	Het
Golph3l	G	A	3: 95,524,517 (GRCm39)	R256Q	probably benign	Het
Igkv2-109	A	G	6: 68,279,853 (GRCm39)	T25A	probably damaging	Het
Lcor	T	A	19: 41,573,849 (GRCm39)	V868D	probably damaging	Het
Lhx9	A	T	1: 138,760,518 (GRCm39)	F286L	probably damaging	Het
Lrrtm1	A	T	6: 77,221,199 (GRCm39)	N219Y	probably damaging	Het
Mei4	A	G	9: 81,809,642 (GRCm39)	K242E	probably damaging	Het
Morc2b	T	C	17: 33,357,014 (GRCm39)	M253V	probably damaging	Het
Myh14	A	G	7: 44,274,457 (GRCm39)	V1277A	probably benign	Het
N4bp2	T	A	5: 65,966,566 (GRCm39)	W1335R	probably damaging	Het
Naip6	T	A	13: 100,452,797 (GRCm39)	H88L	probably benign	Het
Niban1	G	A	1: 151,593,339 (GRCm39)	V675M	probably benign	Het
Nlrp1b	A	T	11: 71,119,243 (GRCm39)	H17Q	possibly damaging	Het
Or1p1b	A	T	11: 74,130,786 (GRCm39)	Y132F	probably damaging	Het
P2ry12	C	T	3: 59,125,037 (GRCm39)	V213I	possibly damaging	Het
Pcdhb21	C	A	18: 37,649,057 (GRCm39)	P729T	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf39	C	G	17: 37,254,292 (GRCm39)	R105G	probably damaging	Het
Sbk1	G	A	7: 125,891,711 (GRCm39)	V382M	possibly damaging	Het
Sbno1	T	C	5: 124,512,684 (GRCm39)	T1362A	probably benign	Het
Slc2a13	A	G	15: 91,160,281 (GRCm39)	Y558H	probably damaging	Het
Tet2	G	T	3: 133,172,895 (GRCm39)	T1789N	possibly damaging	Het
Tln2	G	A	9: 67,226,702 (GRCm39)	A1261V	probably benign	Het
Tmem131l	A	T	3: 83,833,495 (GRCm39)	Y789*	probably null	Het
Tmprss11c	T	A	5: 86,379,712 (GRCm39)	I399F	probably damaging	Het
Tnfrsf25	C	T	4: 152,201,877 (GRCm39)	T118I	possibly damaging	Het
Trpc4	A	T	3: 54,223,226 (GRCm39)	M721L	probably benign	Het
Vav3	A	G	3: 109,248,368 (GRCm39)	K5R	probably benign	Het
Wdr24	C	A	17: 26,044,923 (GRCm39)		probably null	Het
Zc3hc1	A	T	6: 30,390,895 (GRCm39)	I36K	probably 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
IGL02569:Tardbp	APN	4	148,703,639 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AAAAGCCTGATTTGGTTCCCTC -3'
(R):5'- TTGTTTCTTACAGGTTGCCCAG -3'

Sequencing Primer
(F):5'- TCTGCATGCTGCCCTGG -3'
(R):5'- CCCAGTCTCTTTGTGGAGAG -3'

Posted On

2020-07-13