Incidental Mutation 'R5137:Tardbp'
ID 396200
Institutional Source Beutler Lab
Gene Symbol Tardbp
Ensembl Gene ENSMUSG00000041459
Gene Name TAR DNA binding protein
Synonyms Tdp43, TDP-43, 1190002A23Rik
MMRRC Submission 042723-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5137 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 148696839-148711476 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148706494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 105 (D105G)
Ref Sequence ENSEMBL: ENSMUSP00000140832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045180] [ENSMUST00000084125] [ENSMUST00000095719] [ENSMUST00000105699] [ENSMUST00000105700] [ENSMUST00000105702] [ENSMUST00000185673] [ENSMUST00000165113] [ENSMUST00000172073] [ENSMUST00000186947] [ENSMUST00000188134] [ENSMUST00000187939] [ENSMUST00000186711] [ENSMUST00000186729] [ENSMUST00000140897] [ENSMUST00000189048] [ENSMUST00000191450] [ENSMUST00000190696] [ENSMUST00000190552]
AlphaFold Q921F2
Predicted Effect possibly damaging
Transcript: ENSMUST00000045180
AA Change: D105G

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038113
Gene: ENSMUSG00000041459
AA Change: D105G

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000084125
AA Change: D105G

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000081142
Gene: ENSMUSG00000041459
AA Change: D105G

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 possibly damaging
Transcript: ENSMUST00000095719
AA Change: D105G

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000093386
Gene: ENSMUSG00000041459
AA Change: D105G

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 benign
Transcript: ENSMUST00000105699
AA Change: D105G

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101324
Gene: ENSMUSG00000041459
AA Change: D105G

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105700
AA Change: D105G

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101325
Gene: ENSMUSG00000041459
AA Change: D105G

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105702
AA Change: D105G

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101327
Gene: ENSMUSG00000041459
AA Change: D105G

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000185673
AA Change: D105G

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141010
Gene: ENSMUSG00000041459
AA Change: D105G

DomainStartEndE-ValueType
Pfam:RRM_1 106 149 3e-12 PFAM
Pfam:RRM_6 106 149 1.3e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165113
AA Change: D105G

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129342
Gene: ENSMUSG00000041459
AA Change: D105G

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000172073
AA Change: D105G

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130963
Gene: ENSMUSG00000041459
AA Change: D105G

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 possibly damaging
Transcript: ENSMUST00000186947
AA Change: D105G

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140529
Gene: ENSMUSG00000041459
AA Change: D105G

DomainStartEndE-ValueType
RRM 105 176 5.8e-20 SMART
low complexity region 215 243 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000188134
AA Change: D105G

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139476
Gene: ENSMUSG00000041459
AA Change: D105G

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Predicted Effect unknown
Transcript: ENSMUST00000185824
AA Change: D20G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186317
Predicted Effect probably benign
Transcript: ENSMUST00000147391
Predicted Effect probably benign
Transcript: ENSMUST00000187939
SMART Domains Protein: ENSMUSP00000140928
Gene: ENSMUSG00000041459

DomainStartEndE-ValueType
RRM 18 84 3e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186711
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: 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 possibly damaging
Transcript: ENSMUST00000189048
AA Change: D105G

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140364
Gene: ENSMUSG00000041459
AA Change: D105G

DomainStartEndE-ValueType
RRM 105 176 1.38e-17 SMART
RRM 192 258 7.03e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191450
AA Change: D105G

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140832
Gene: ENSMUSG00000041459
AA Change: D105G

DomainStartEndE-ValueType
RRM 105 176 5.8e-20 SMART
RRM 192 258 3e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190478
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 benign
Transcript: ENSMUST00000188488
Predicted Effect probably benign
Transcript: ENSMUST00000190287
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: ENSMUST00000190630
Predicted Effect probably benign
Transcript: ENSMUST00000191378
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,123,920 (GRCm39) V75A probably benign Het
Ace G C 11: 105,865,652 (GRCm39) W628C probably damaging Het
Adh4 T C 3: 138,127,996 (GRCm39) S141P probably benign Het
Apob T C 12: 8,061,384 (GRCm39) Y3256H possibly damaging Het
B3galnt1 G T 3: 69,482,282 (GRCm39) N326K probably benign Het
Bltp3a T G 17: 28,095,964 (GRCm39) probably null Het
Catsperb T C 12: 101,516,070 (GRCm39) F569L probably damaging Het
Cecr2 A G 6: 120,732,478 (GRCm39) I225V probably benign Het
Cox5b A G 1: 36,731,510 (GRCm39) probably null Het
Crybg1 T C 10: 43,834,332 (GRCm39) D1953G probably damaging Het
Dnaaf5 C T 5: 139,167,215 (GRCm39) T707M probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Ebf1 G A 11: 44,882,295 (GRCm39) R409Q probably damaging Het
Eef2k G A 7: 120,484,645 (GRCm39) A256T probably damaging Het
Eef2k C A 7: 120,484,646 (GRCm39) A256D probably damaging Het
Evl C G 12: 108,647,781 (GRCm39) T294S probably benign Het
Eya2 T C 2: 165,573,548 (GRCm39) Y288H probably damaging Het
Ezh2 A T 6: 47,509,014 (GRCm39) probably null Het
Fam171a1 T C 2: 3,226,426 (GRCm39) Y395H probably benign Het
Gas2l3 C A 10: 89,249,837 (GRCm39) R427L probably damaging Het
Gli2 T A 1: 118,783,233 (GRCm39) I91F probably damaging Het
Gm4884 T C 7: 40,692,318 (GRCm39) S96P probably damaging Het
Gprc5d T A 6: 135,093,031 (GRCm39) D292V probably benign Het
Herc1 A G 9: 66,355,505 (GRCm39) K2252R probably benign Het
Il1rl1 A T 1: 40,489,285 (GRCm39) M346L probably benign Het
Kcna5 A T 6: 126,510,946 (GRCm39) V394D probably damaging Het
Kcng4 A T 8: 120,352,617 (GRCm39) M431K possibly damaging Het
Kifbp A T 10: 62,414,020 (GRCm39) V46E probably damaging Het
Large1 A G 8: 73,774,937 (GRCm39) F258L possibly damaging Het
Mapkbp1 T A 2: 119,852,662 (GRCm39) C1001S probably damaging Het
Micu1 A G 10: 59,663,054 (GRCm39) Q328R probably benign Het
Mmp11 G A 10: 75,761,290 (GRCm39) P437S probably damaging Het
Msh6 T A 17: 88,287,716 (GRCm39) F119I possibly damaging Het
Myo6 A G 9: 80,149,531 (GRCm39) E159G probably damaging Het
Negr1 T A 3: 156,721,833 (GRCm39) Y136N probably damaging Het
Nol9 T A 4: 152,130,428 (GRCm39) C321S probably damaging Het
Nos1 T C 5: 118,043,378 (GRCm39) F551S probably benign Het
Nup153 C A 13: 46,837,629 (GRCm39) G1198C probably damaging Het
Omd T C 13: 49,743,552 (GRCm39) S201P probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1e35 T C 11: 73,797,452 (GRCm39) I289V probably damaging Het
Or4c120 C A 2: 89,000,744 (GRCm39) V271F probably benign Het
Or51l14 A G 7: 103,100,919 (GRCm39) Y125C probably damaging Het
Or51l14 C A 7: 103,100,920 (GRCm39) Y125* probably null Het
Oxct1 G T 15: 4,064,832 (GRCm39) A57S probably benign Het
Pcdhga7 T G 18: 37,850,433 (GRCm39) S813R probably damaging Het
Pcmtd2 A T 2: 181,496,787 (GRCm39) I255F possibly damaging Het
Pdk1 T G 2: 71,713,913 (GRCm39) M186R possibly damaging Het
Pelp1 T C 11: 70,285,925 (GRCm39) T648A probably damaging Het
Phldb2 A T 16: 45,628,621 (GRCm39) S570R possibly damaging Het
Pramel16 T A 4: 143,675,690 (GRCm39) T379S probably benign Het
Ptprj T C 2: 90,299,992 (GRCm39) T270A possibly damaging Het
Reln C T 5: 22,160,179 (GRCm39) G2130D probably damaging Het
Rims1 A T 1: 22,358,844 (GRCm39) Y663* probably null Het
Rit2 T C 18: 31,286,817 (GRCm39) T123A probably benign Het
Rmdn2 A T 17: 79,975,418 (GRCm39) E302D probably benign Het
Ryr1 T C 7: 28,801,283 (GRCm39) E827G possibly damaging Het
Siglec1 C T 2: 130,923,264 (GRCm39) G494R probably damaging Het
Slc16a14 T A 1: 84,890,318 (GRCm39) Y329F probably damaging Het
Slc35d1 A T 4: 103,071,978 (GRCm39) L8Q possibly damaging Het
Smpdl3a C T 10: 57,677,163 (GRCm39) S57L possibly damaging Het
Snx9 T C 17: 5,978,528 (GRCm39) V566A probably damaging Het
Spaca1 A T 4: 34,029,095 (GRCm39) I126N probably damaging Het
Spred1 T G 2: 116,994,052 (GRCm39) I94S probably damaging Het
Tet2 T C 3: 133,182,326 (GRCm39) S1213G probably benign Het
Trak1 A T 9: 121,196,121 (GRCm39) probably benign Het
Trem3 G A 17: 48,556,756 (GRCm39) V76M possibly damaging Het
Ttc13 G T 8: 125,421,674 (GRCm39) Y250* probably null Het
Ttll5 T G 12: 85,969,819 (GRCm39) S714R possibly damaging Het
Ube2l6 T G 2: 84,633,220 (GRCm39) probably null Het
Ubr3 T C 2: 69,803,679 (GRCm39) S1090P probably damaging Het
Vezt T C 10: 93,806,372 (GRCm39) T680A probably benign Het
Virma A G 4: 11,546,297 (GRCm39) K1762E probably damaging Het
Vps53 A G 11: 76,057,074 (GRCm39) S57P probably damaging Het
Vwa7 G T 17: 35,236,822 (GRCm39) D130Y probably damaging Het
Vwa8 T G 14: 79,302,342 (GRCm39) F1004V probably damaging Het
Zfp35 A T 18: 24,137,194 (GRCm39) K513* probably null Het
Zfp384 ACAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGC 6: 125,013,472 (GRCm39) probably benign Het
Zfp521 C A 18: 13,978,505 (GRCm39) C636F 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
R5057:Tardbp UTSW 4 148,703,813 (GRCm39) critical splice acceptor site probably null
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'- TGGCAAACAAGCAACACTAGTT -3'
(R):5'- AGCTACATTCAGTCTTTAAGGGAC -3'

Sequencing Primer
(F):5'- AGAGACTTGAAGCTCTCTTTGACC -3'
(R):5'- GGCTGAGCTTGAACTCACAGATC -3'
Posted On 2016-06-21