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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |