Incidental Mutation 'IGL01345:Tlnrd1'
ID 75026
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlnrd1
Ensembl Gene ENSMUSG00000070462
Gene Name talin rod domain containing 1
Synonyms Mesdc1
Accession Numbers
Essential gene? Probably essential (E-score: 0.804) question?
Stock # IGL01345
Quality Score
Status
Chromosome 7
Chromosomal Location 83529703-83533549 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83532054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 126 (S126P)
Ref Sequence ENSEMBL: ENSMUSP00000091769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094216]
AlphaFold Q9ERE8
Predicted Effect probably damaging
Transcript: ENSMUST00000094216
AA Change: S126P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091769
Gene: ENSMUSG00000070462
AA Change: S126P

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
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,699,020 (GRCm39) probably benign Het
Atr G A 9: 95,823,002 (GRCm39) C2323Y probably damaging Het
Ccdc107 T A 4: 43,493,453 (GRCm39) L8* probably null Het
Erc1 T A 6: 119,738,224 (GRCm39) K240* probably null Het
Gcat T C 15: 78,918,265 (GRCm39) probably benign Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gm8267 A G 14: 44,962,412 (GRCm39) S3P probably damaging Het
Gpr26 T C 7: 131,569,161 (GRCm39) F169L possibly damaging Het
Itgal T A 7: 126,900,128 (GRCm39) F129I possibly damaging Het
Kcnk1 T A 8: 126,752,146 (GRCm39) C251S possibly damaging Het
Nfkb1 T C 3: 135,300,742 (GRCm39) D608G probably damaging Het
Nlrp2 T C 7: 5,320,491 (GRCm39) E882G probably benign Het
Odad2 T C 18: 7,266,947 (GRCm39) K385E probably benign Het
Pik3r5 G A 11: 68,387,020 (GRCm39) D854N possibly damaging Het
Rnf220 G A 4: 117,130,467 (GRCm39) R253* probably null Het
Slc22a15 A C 3: 101,787,492 (GRCm39) S259R probably benign Het
Tln1 G A 4: 43,536,281 (GRCm39) L2004F probably damaging Het
Ulk4 T C 9: 121,037,228 (GRCm39) T587A possibly damaging Het
Vasn A G 16: 4,466,232 (GRCm39) I60V probably benign Het
Vps33a G T 5: 123,711,006 (GRCm39) N13K probably benign Het
Zmiz2 A G 11: 6,355,015 (GRCm39) D862G possibly damaging Het
Zswim3 T A 2: 164,662,057 (GRCm39) L179H probably damaging Het
Other mutations in Tlnrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5429:Tlnrd1 UTSW 7 83,531,522 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-10-07