Incidental Mutation 'R5429:Tlnrd1'
ID 427069
Institutional Source Beutler Lab
Gene Symbol Tlnrd1
Ensembl Gene ENSMUSG00000070462
Gene Name talin rod domain containing 1
Synonyms Mesdc1
MMRRC Submission 042995-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.804) question?
Stock # R5429 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 83529703-83533549 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 83531522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 303 (T303N)
Ref Sequence ENSEMBL: ENSMUSP00000091769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094216]
AlphaFold Q9ERE8
Predicted Effect probably damaging
Transcript: ENSMUST00000094216
AA Change: T303N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091769
Gene: ENSMUSG00000070462
AA Change: T303N

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T G 7: 75,252,652 (GRCm39) S261A possibly damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Auts2 G A 5: 131,501,173 (GRCm39) T289M probably damaging Het
Btaf1 G A 19: 36,972,257 (GRCm39) V1331I possibly damaging Het
Ciz1 T A 2: 32,266,055 (GRCm39) I609K possibly damaging Het
Clca3b C T 3: 144,552,220 (GRCm39) V154I probably damaging Het
Csde1 A G 3: 102,960,157 (GRCm39) T564A possibly damaging Het
Csrnp2 A G 15: 100,379,935 (GRCm39) V452A probably benign Het
Ctnnd1 C T 2: 84,447,133 (GRCm39) V371M probably damaging Het
Dock6 T C 9: 21,744,177 (GRCm39) D677G probably damaging Het
Filip1l A T 16: 57,390,618 (GRCm39) E402V probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ghr G A 15: 3,418,157 (GRCm39) Q37* probably null Het
Gm10770 C T 2: 150,021,343 (GRCm39) R58H probably benign Het
Gm12789 T C 4: 101,847,158 (GRCm39) Y148H possibly damaging Het
Herc4 T A 10: 63,110,792 (GRCm39) N234K probably benign Het
Itih3 A G 14: 30,645,478 (GRCm39) V10A probably benign Het
Kat14 T A 2: 144,235,243 (GRCm39) D234E probably benign Het
Kif13a A G 13: 46,926,245 (GRCm39) probably null Het
Kif2b A G 11: 91,468,055 (GRCm39) V76A probably benign Het
Mboat1 A G 13: 30,403,650 (GRCm39) T150A probably benign Het
Mfsd1 T A 3: 67,507,293 (GRCm39) L398H probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nfx1 T C 4: 41,004,343 (GRCm39) C705R probably damaging Het
Or13a27 A G 7: 139,925,186 (GRCm39) F239L possibly damaging Het
Or2ak5 T A 11: 58,611,350 (GRCm39) N175Y probably damaging Het
Pcdh10 T C 3: 45,338,635 (GRCm39) S931P probably benign Het
Pdpk1 T C 17: 24,310,534 (GRCm39) E205G probably benign Het
Ppp2r2a A T 14: 67,261,205 (GRCm39) F172I probably damaging Het
Ppp2r5e T A 12: 75,500,537 (GRCm39) D452V probably damaging Het
Rims2 A T 15: 39,208,751 (GRCm39) T185S probably damaging Het
Rpusd4 T C 9: 35,183,898 (GRCm39) V209A probably benign Het
Safb T C 17: 56,895,822 (GRCm39) V20A probably benign Het
Scaf8 C A 17: 3,247,385 (GRCm39) P903T probably benign Het
Slc30a7 A G 3: 115,800,574 (GRCm39) S31P possibly damaging Het
Slc9b1 T C 3: 135,079,024 (GRCm39) probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Tbc1d32 T C 10: 55,904,089 (GRCm39) D1226G probably damaging Het
Tmc1 G T 19: 20,766,986 (GRCm39) N738K possibly damaging Het
Tmem41a A G 16: 21,753,606 (GRCm39) I255T probably benign Het
Trim7 G A 11: 48,740,782 (GRCm39) C293Y probably damaging Het
Trpc6 C T 9: 8,634,075 (GRCm39) Q385* probably null Het
Ttc39b A G 4: 83,162,190 (GRCm39) I330T possibly damaging Het
Vil1 C T 1: 74,471,490 (GRCm39) T757I probably benign Het
Zfp462 T C 4: 55,060,077 (GRCm39) V1201A probably damaging Het
Zfp473 T A 7: 44,382,272 (GRCm39) E686V possibly damaging Het
Zfp998 G A 13: 66,579,887 (GRCm39) P199S probably benign Het
Other mutations in Tlnrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01345:Tlnrd1 APN 7 83,532,054 (GRCm39) missense probably damaging 1.00
IGL02662:Tlnrd1 APN 7 83,531,744 (GRCm39) missense probably damaging 1.00
IGL02662:Tlnrd1 APN 7 83,532,027 (GRCm39) missense possibly damaging 0.94
Danken UTSW 7 83,531,838 (GRCm39) missense probably damaging 0.97
fallt UTSW 7 83,531,987 (GRCm39) missense probably damaging 1.00
R2096:Tlnrd1 UTSW 7 83,532,062 (GRCm39) missense probably benign 0.05
R2358:Tlnrd1 UTSW 7 83,531,488 (GRCm39) missense probably benign 0.00
R5910:Tlnrd1 UTSW 7 83,533,693 (GRCm39) unclassified probably benign
R6004:Tlnrd1 UTSW 7 83,531,987 (GRCm39) missense probably damaging 1.00
R6931:Tlnrd1 UTSW 7 83,531,805 (GRCm39) missense probably benign 0.15
R7000:Tlnrd1 UTSW 7 83,531,987 (GRCm39) missense probably damaging 1.00
R7481:Tlnrd1 UTSW 7 83,531,546 (GRCm39) missense probably damaging 1.00
R7587:Tlnrd1 UTSW 7 83,532,155 (GRCm39) missense probably damaging 0.98
R7598:Tlnrd1 UTSW 7 83,531,838 (GRCm39) missense probably damaging 0.97
R8047:Tlnrd1 UTSW 7 83,532,069 (GRCm39) missense probably damaging 0.99
R8776:Tlnrd1 UTSW 7 83,532,316 (GRCm39) missense probably benign 0.01
R8776-TAIL:Tlnrd1 UTSW 7 83,532,316 (GRCm39) missense probably benign 0.01
R9366:Tlnrd1 UTSW 7 83,531,582 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CACAGAATTGGAATTCACTGGCG -3'
(R):5'- GTTAGCATGCGTACGCGAAG -3'

Sequencing Primer
(F):5'- ATTCACTGGCGGTAAAGTCC -3'
(R):5'- AAGTGAAGGCGGCACCC -3'
Posted On 2016-09-01