Incidental Mutation 'R5057:Tardbp'
ID 452890
Institutional Source Beutler Lab
Gene Symbol Tardbp
Ensembl Gene ENSMUSG00000041459
Gene Name TAR DNA binding protein
Synonyms Tdp43, TDP-43, 1190002A23Rik
MMRRC Submission 042647-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5057 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 148696839-148711476 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 148703813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045180] [ENSMUST00000052060] [ENSMUST00000084125] [ENSMUST00000095719] [ENSMUST00000105699] [ENSMUST00000105700] [ENSMUST00000105702] [ENSMUST00000140897] [ENSMUST00000165113] [ENSMUST00000172073] [ENSMUST00000186947] [ENSMUST00000186729] [ENSMUST00000186711] [ENSMUST00000185673] [ENSMUST00000190696] [ENSMUST00000187939] [ENSMUST00000188134] [ENSMUST00000189048] [ENSMUST00000190552] [ENSMUST00000191450]
AlphaFold Q921F2
Predicted Effect probably benign
Transcript: ENSMUST00000045180
SMART Domains Protein: ENSMUSP00000038113
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Blast:RRM_2 1 28 2e-13 BLAST
RRM 44 110 3e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000165113
SMART Domains Protein: ENSMUSP00000129342
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000185824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186317
Predicted Effect probably benign
Transcript: ENSMUST00000186947
SMART Domains Protein: ENSMUSP00000140529
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 105 176 5.8e-20 SMART
low complexity region 215 243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186729
SMART Domains Protein: ENSMUSP00000139547
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
Pfam:RRM_1 1 37 1.8e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147391
Predicted Effect probably benign
Transcript: ENSMUST00000186711
Predicted Effect probably benign
Transcript: ENSMUST00000185673
SMART Domains Protein: ENSMUSP00000141010
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
Pfam:RRM_1 106 149 3e-12 PFAM
Pfam:RRM_6 106 149 1.3e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190696
SMART Domains Protein: ENSMUSP00000139637
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
Blast:RRM_2 55 79 8e-11 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000187939
SMART Domains Protein: ENSMUSP00000140928
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 18 84 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188134
SMART Domains Protein: ENSMUSP00000139476
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Predicted Effect probably null
Transcript: ENSMUST00000189048
SMART Domains Protein: ENSMUSP00000140364
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190552
SMART Domains Protein: ENSMUSP00000141052
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM_2 1 56 6.1e-4 SMART
RRM 72 138 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191378
Predicted Effect probably benign
Transcript: ENSMUST00000191450
SMART Domains Protein: ENSMUSP00000140832
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 105 176 5.8e-20 SMART
RRM 192 258 3e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189041
Predicted Effect probably benign
Transcript: ENSMUST00000188488
Predicted Effect probably benign
Transcript: ENSMUST00000190630
Predicted Effect probably benign
Transcript: ENSMUST00000190287
Meta Mutation Damage Score 0.9595 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.0%
Validation Efficiency 97% (118/122)
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: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,057,581 (GRCm39) H739Q probably benign Het
Acad12 T A 5: 121,748,152 (GRCm39) T89S probably benign Het
Adgb A G 10: 10,233,722 (GRCm39) C1252R probably benign Het
Ankef1 A G 2: 136,392,280 (GRCm39) probably null Het
Ankfy1 T C 11: 72,650,745 (GRCm39) L976P probably damaging Het
Ankib1 T A 5: 3,784,011 (GRCm39) I322F possibly damaging Het
Ankrd61 T A 5: 143,831,613 (GRCm39) T64S probably benign Het
Anxa6 T G 11: 54,892,062 (GRCm39) E298A possibly damaging Het
Apc2 A G 10: 80,144,903 (GRCm39) S605G probably damaging Het
Arih1 T C 9: 59,393,515 (GRCm39) N39S unknown Het
Bicc1 A G 10: 70,783,713 (GRCm39) S393P possibly damaging Het
Bptf A T 11: 106,973,354 (GRCm39) F693L probably damaging Het
Cacng4 A G 11: 107,685,197 (GRCm39) Y32H probably damaging Het
Ccdc50 T A 16: 27,257,092 (GRCm39) D252E probably benign Het
Ccdc92b C A 11: 74,528,976 (GRCm39) T160K probably damaging Het
Cd163 C T 6: 124,302,247 (GRCm39) T937I probably damaging Het
Cdh22 C A 2: 164,958,063 (GRCm39) V635F probably damaging Het
Cenpe G T 3: 134,926,074 (GRCm39) A243S probably benign Het
Cep295 A T 9: 15,233,979 (GRCm39) H2272Q probably benign Het
Cgnl1 A T 9: 71,632,076 (GRCm39) V425D probably damaging Het
Clec4b2 A T 6: 123,177,915 (GRCm39) S77C probably null Het
Cntnap5a C T 1: 115,612,943 (GRCm39) T26I probably benign Het
Col6a3 T C 1: 90,743,852 (GRCm39) K165R possibly damaging Het
Copb1 A T 7: 113,825,997 (GRCm39) N662K probably benign Het
Crybg1 T A 10: 43,865,104 (GRCm39) R1458* probably null Het
Cspp1 T A 1: 10,145,186 (GRCm39) probably benign Het
Dhtkd1 A G 2: 5,924,324 (GRCm39) C430R probably damaging Het
Dlg5 T C 14: 24,186,690 (GRCm39) E1847G probably damaging Het
Dync2i1 A T 12: 116,177,033 (GRCm39) N856K probably benign Het
Eif1ad16 A T 12: 87,985,481 (GRCm39) S21T unknown Het
Ephb3 A G 16: 21,039,197 (GRCm39) D351G probably damaging Het
Exd2 T A 12: 80,543,564 (GRCm39) N582K probably damaging Het
Fam161a T A 11: 22,970,397 (GRCm39) C192S probably damaging Het
Fbn1 A G 2: 125,308,615 (GRCm39) V149A probably benign Het
Fbxw16 A G 9: 109,270,232 (GRCm39) S170P probably damaging Het
Fndc1 T A 17: 7,990,802 (GRCm39) R965* probably null Het
Frem2 T C 3: 53,442,617 (GRCm39) D2640G probably benign Het
Gfm1 T C 3: 67,380,877 (GRCm39) V664A probably damaging Het
Gm10803 A C 2: 93,394,517 (GRCm39) L96F probably damaging Het
Gm14569 T C X: 35,694,470 (GRCm39) D1413G probably benign Het
Gm44501 A G 17: 40,889,563 (GRCm39) T26A probably benign Het
Gpc4 G A X: 51,163,440 (GRCm39) R148C probably damaging Het
Gpsm1 G A 2: 26,215,369 (GRCm39) R277Q probably damaging Het
Inmt T A 6: 55,151,883 (GRCm39) H29L probably benign Het
Insrr T A 3: 87,722,572 (GRCm39) C1265S probably benign Het
Kctd12 A G 14: 103,219,045 (GRCm39) F278L possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lag3 T A 6: 124,882,318 (GRCm39) I393F possibly damaging Het
Lama2 C T 10: 27,040,982 (GRCm39) C1447Y probably damaging Het
Lama3 G A 18: 12,665,005 (GRCm39) G2275S probably null Het
Lrrc17 A T 5: 21,780,307 (GRCm39) H427L probably benign Het
Med13l T A 5: 118,856,558 (GRCm39) S164T probably damaging Het
Milr1 A G 11: 106,657,791 (GRCm39) D131G possibly damaging Het
Myo5c A T 9: 75,208,155 (GRCm39) T1630S probably damaging Het
Nbeal2 A T 9: 110,460,073 (GRCm39) N1848K probably damaging Het
Ncor2 A T 5: 125,125,130 (GRCm39) V307E possibly damaging Het
Ndufs3 C A 2: 90,729,004 (GRCm39) A161S probably benign Het
Neo1 T C 9: 58,897,554 (GRCm39) D134G probably damaging Het
Nexmif A T X: 103,130,956 (GRCm39) N320K probably damaging Het
Nipal3 T A 4: 135,194,167 (GRCm39) I289F probably damaging Het
Nrg4 A G 9: 55,189,880 (GRCm39) probably benign Het
Nrxn3 A T 12: 89,221,804 (GRCm39) I528F probably damaging Het
Or11h23 A C 14: 50,948,669 (GRCm39) N294T probably damaging Het
Or3a10 T A 11: 73,935,881 (GRCm39) D73V probably damaging Het
Pate2 T C 9: 35,597,407 (GRCm39) probably benign Het
Pcnx2 T C 8: 126,581,930 (GRCm39) I935M possibly damaging Het
Pik3c2a G T 7: 115,975,518 (GRCm39) T683K possibly damaging Het
Pip5k1c G A 10: 81,146,723 (GRCm39) probably null Het
Pkd1l2 G A 8: 117,781,747 (GRCm39) T766I probably benign Het
Polr3c C A 3: 96,619,373 (GRCm39) L508F probably damaging Het
Por A G 5: 135,759,756 (GRCm39) D189G probably damaging Het
Potefam1 A T 2: 111,055,766 (GRCm39) F207I probably benign Het
Prim2 A T 1: 33,669,441 (GRCm39) L178* probably null Het
Prima1 C A 12: 103,168,864 (GRCm39) probably null Het
Ptpn21 G A 12: 98,645,666 (GRCm39) R1091C probably damaging Het
Ptpn23 G A 9: 110,217,624 (GRCm39) T744I probably benign Het
Rad21 A T 15: 51,830,102 (GRCm39) I503K probably benign Het
Rbm12 A T 2: 155,938,806 (GRCm39) C489S probably benign Het
Rpl10a A T 17: 28,549,607 (GRCm39) H140L probably benign Het
Rpl7-ps8 A T 15: 59,083,004 (GRCm39) noncoding transcript Het
Rtbdn T C 8: 85,681,638 (GRCm39) F143S probably damaging Het
Scamp3 T A 3: 89,089,600 (GRCm39) probably benign Het
Setd5 A G 6: 113,114,922 (GRCm39) S848G probably damaging Het
Sez6 T C 11: 77,863,979 (GRCm39) V487A probably damaging Het
Shc2 G A 10: 79,459,706 (GRCm39) P413S probably benign Het
Sipa1l3 T C 7: 29,070,618 (GRCm39) N966S probably damaging Het
Slc39a8 A G 3: 135,554,790 (GRCm39) E78G probably benign Het
Slc8a3 A G 12: 81,246,332 (GRCm39) V900A probably damaging Het
Slitrk3 T C 3: 72,957,981 (GRCm39) T264A probably benign Het
Spire2 G A 8: 124,084,940 (GRCm39) R260H probably damaging Het
Stk39 T A 2: 68,051,292 (GRCm39) I518F probably damaging Het
Tep1 A G 14: 51,066,456 (GRCm39) Y2335H probably benign Het
Tesl1 G A X: 23,773,480 (GRCm39) G327E probably damaging Het
Tll2 A G 19: 41,105,705 (GRCm39) V358A probably benign Het
Tmem268 C G 4: 63,486,777 (GRCm39) S100C probably damaging Het
Tnfsf9 A G 17: 57,412,444 (GRCm39) T5A probably benign Het
Trappc10 G T 10: 78,052,994 (GRCm39) F260L possibly damaging Het
Trim5 A G 7: 103,914,630 (GRCm39) Y480H probably damaging Het
Trmt112 T C 19: 6,888,121 (GRCm39) V91A probably benign Het
Ttn T A 2: 76,577,379 (GRCm39) K22759* probably null Het
Ttn C A 2: 76,748,988 (GRCm39) L4020F probably benign Het
Ubash3b A G 9: 40,948,755 (GRCm39) C187R possibly damaging Het
Ube3b T C 5: 114,544,318 (GRCm39) F572L probably benign Het
Ubr5 A G 15: 38,004,353 (GRCm39) V1332A probably damaging Het
Ubtd2 C A 11: 32,466,320 (GRCm39) R180S probably damaging Het
Ubtf A G 11: 102,197,913 (GRCm39) S673P probably damaging Het
Ubtfl1 A T 9: 18,320,487 (GRCm39) D5V possibly damaging Het
Usp17la G A 7: 104,510,330 (GRCm39) V312I possibly damaging Het
Usp17ld G T 7: 102,899,655 (GRCm39) H426N probably benign Het
Usp34 A G 11: 23,408,086 (GRCm39) probably benign Het
Vmn1r199 A T 13: 22,567,575 (GRCm39) T290S possibly damaging Het
Vmn1r33 T C 6: 66,589,089 (GRCm39) N155S probably benign Het
Vmn2r28 T A 7: 5,489,463 (GRCm39) I459L probably benign Het
Vmn2r6 T A 3: 64,445,207 (GRCm39) K839N probably damaging Het
Vmn2r65 A G 7: 84,589,819 (GRCm39) I699T probably damaging Het
Vps16 A G 2: 130,281,372 (GRCm39) S235G probably benign Het
Vwde T C 6: 13,192,641 (GRCm39) I421V possibly damaging Het
Xiap T C X: 41,183,342 (GRCm39) F23L probably benign Het
Xkr7 A G 2: 152,896,300 (GRCm39) T385A probably benign Het
Znfx1 T C 2: 166,881,746 (GRCm39) Y217C probably damaging Het
Other mutations in Tardbp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TCATCTGCAAAGGTGACGAAGG -3'
(R):5'- AAGGCATCAGACGTGCATGTG -3'

Sequencing Primer
(F):5'- GCAAAAGCTCTGAATGGTTTGG -3'
(R):5'- CATGTGGCACAGGTAGATGC -3'
Posted On 2017-01-23