Incidental Mutation 'R2358:Tlnrd1'
ID 247013
Institutional Source Beutler Lab
Gene Symbol Tlnrd1
Ensembl Gene ENSMUSG00000070462
Gene Name talin rod domain containing 1
Synonyms Mesdc1
MMRRC Submission 040340-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.774) question?
Stock # R2358 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 83879873-83884305 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83882280 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 314 (D314E)
Ref Sequence ENSEMBL: ENSMUSP00000091769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094216]
AlphaFold Q9ERE8
Predicted Effect probably benign
Transcript: ENSMUST00000094216
AA Change: D314E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000091769
Gene: ENSMUSG00000070462
AA Change: D314E

DomainStartEndE-ValueType
low complexity region 9 29 N/A INTRINSIC
PDB:2X0C|A 37 320 1e-21 PDB
Blast:MA 100 258 1e-5 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207920
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is regulated by micro RNA MiR-574-3, and is thought to have an oncogenic function in human bladder cancer. A similar gene in mouse is located in a chromosomal region critical for differentiation of mesoderm, which affects embryo patterning and the formation of heart, muscle, blood, skeleton and the urogenital system. The mouse gene is expressed in early development, and in the adult. [provided by RefSeq, Nov 2016]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 CGG CG 5: 124,077,305 probably null Het
Aif1l T A 2: 31,969,751 F94L probably damaging Het
Ankzf1 C T 1: 75,195,251 H209Y probably damaging Het
Ate1 A T 7: 130,516,165 M30K probably damaging Het
Cd27 A G 6: 125,233,318 Y189H probably damaging Het
Cela1 A G 15: 100,681,228 I183T probably benign Het
Copg2 A T 6: 30,826,233 L259* probably null Het
Efcab7 T A 4: 99,831,586 probably benign Het
Fcrl5 A G 3: 87,446,419 E357G probably damaging Het
Fzr1 C T 10: 81,367,640 probably null Het
Gm10696 G A 3: 94,175,547 A319V possibly damaging Het
Gm10696 C A 3: 94,175,548 A319S possibly damaging Het
Il12rb2 C T 6: 67,298,195 A649T probably damaging Het
Itfg1 C A 8: 85,738,129 V438F probably damaging Het
Jaml A C 9: 45,101,063 I283L possibly damaging Het
Kif28 A T 1: 179,709,459 H486Q probably damaging Het
Lrch4 A G 5: 137,638,548 probably benign Het
Lrfn2 A G 17: 49,071,160 E423G possibly damaging Het
Lrp4 T A 2: 91,501,954 N1665K probably benign Het
Mrpl32 A T 13: 14,610,580 V157E probably damaging Het
Mta3 A G 17: 83,762,988 I193V probably damaging Het
Myom2 G A 8: 15,112,018 V984I possibly damaging Het
Nedd4l G A 18: 65,209,719 V909I possibly damaging Het
Nlrp4a A G 7: 26,464,198 D930G probably benign Het
Olfr121 T A 17: 37,752,380 C175* probably null Het
Olfr1351 T C 10: 79,018,188 F289L probably damaging Het
Olfr74 A T 2: 87,973,722 N314K probably benign Het
Ovch2 A T 7: 107,794,915 H110Q probably damaging Het
Pcnx3 G A 19: 5,683,339 Q155* probably null Het
Pcnx3 C G 19: 5,683,340 L1F probably null Het
Pi4k2a G A 19: 42,090,692 R64Q probably damaging Het
Ptpn12 G A 5: 20,998,692 P363S probably damaging Het
Rbm27 T C 18: 42,292,112 probably benign Het
Ripor3 A G 2: 167,983,865 probably benign Het
Rpl13-ps3 A G 14: 58,893,816 noncoding transcript Het
Sap18b G A 8: 95,825,563 R67H probably benign Het
Sdhb T C 4: 140,973,000 V137A probably damaging Het
Shmt2 T C 10: 127,518,028 T459A probably benign Het
Siglecg A G 7: 43,409,422 S200G possibly damaging Het
Slc6a15 T G 10: 103,416,785 I603S probably benign Het
Smtn A T 11: 3,532,865 probably null Het
Spata31d1a G A 13: 59,703,888 S142L probably benign Het
Spopl C T 2: 23,537,380 R221Q probably damaging Het
St5 A T 7: 109,556,446 S366T probably benign Het
Strip1 A G 3: 107,615,819 V633A probably benign Het
Sun2 A G 15: 79,727,913 S522P possibly damaging Het
Tectb C G 19: 55,180,999 probably benign Het
Terb2 T A 2: 122,198,432 C157S probably benign Het
Themis T A 10: 28,863,380 N615K possibly damaging Het
Vmn1r205 T A 13: 22,592,396 T179S probably benign Het
Vsig10l G A 7: 43,468,761 R689H probably benign Het
Wt1 G A 2: 105,163,428 probably benign Het
Zfp423 G T 8: 87,780,551 A1034D possibly damaging Het
Zfy2 T C Y: 2,107,272 E454G possibly damaging Het
Zyg11a G T 4: 108,196,146 Q440K possibly damaging Het
Other mutations in Tlnrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01345:Tlnrd1 APN 7 83882846 missense probably damaging 1.00
IGL02662:Tlnrd1 APN 7 83882819 missense possibly damaging 0.94
IGL02662:Tlnrd1 APN 7 83882536 missense probably damaging 1.00
Danken UTSW 7 83882630 missense probably damaging 0.97
fallt UTSW 7 83882779 missense probably damaging 1.00
R2096:Tlnrd1 UTSW 7 83882854 missense probably benign 0.05
R5429:Tlnrd1 UTSW 7 83882314 missense probably damaging 1.00
R5910:Tlnrd1 UTSW 7 83884485 unclassified probably benign
R6004:Tlnrd1 UTSW 7 83882779 missense probably damaging 1.00
R6931:Tlnrd1 UTSW 7 83882597 missense probably benign 0.15
R7000:Tlnrd1 UTSW 7 83882779 missense probably damaging 1.00
R7481:Tlnrd1 UTSW 7 83882338 missense probably damaging 1.00
R7587:Tlnrd1 UTSW 7 83882947 missense probably damaging 0.98
R7598:Tlnrd1 UTSW 7 83882630 missense probably damaging 0.97
R8047:Tlnrd1 UTSW 7 83882861 missense probably damaging 0.99
R8776:Tlnrd1 UTSW 7 83883108 missense probably benign 0.01
R8776-TAIL:Tlnrd1 UTSW 7 83883108 missense probably benign 0.01
R9366:Tlnrd1 UTSW 7 83882374 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TTTAGCCTGGGGTGGAAAACAG -3'
(R):5'- TAGCATGCGTACGCGAAGTG -3'

Sequencing Primer
(F):5'- CCTGGGGTGGAAAACAGGTATAG -3'
(R):5'- CTCTTCAGTGGGCCCTTGG -3'
Posted On 2014-10-30