Incidental Mutation 'IGL02662:Tlnrd1'
| ID |
302590 |
| 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 # |
IGL02662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
83529703-83533549 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83532027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 135
(V135M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094216]
|
| AlphaFold |
Q9ERE8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094216
AA Change: V135M
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091769
Gene: ENSMUSG00000070462
AA Change: V135M
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,618,744 (GRCm39) |
|
probably null |
Het |
| Ap5z1 |
G |
A |
5: 142,462,644 (GRCm39) |
|
probably null |
Het |
| Cdhr5 |
T |
G |
7: 140,854,416 (GRCm39) |
I120L |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,456,588 (GRCm39) |
S975F |
probably damaging |
Het |
| Cts3 |
G |
T |
13: 61,715,871 (GRCm39) |
Q132K |
probably damaging |
Het |
| Cylc2 |
T |
A |
4: 51,216,698 (GRCm39) |
|
probably benign |
Het |
| Defb39 |
A |
G |
8: 19,102,891 (GRCm39) |
V68A |
probably benign |
Het |
| Dgki |
A |
G |
6: 36,839,421 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
G |
A |
2: 5,904,783 (GRCm39) |
P867L |
probably damaging |
Het |
| Gata5 |
C |
T |
2: 179,969,544 (GRCm39) |
|
probably benign |
Het |
| Glt28d2 |
T |
A |
3: 85,779,423 (GRCm39) |
I17F |
probably damaging |
Het |
| Gstm2 |
T |
C |
3: 107,892,378 (GRCm39) |
Y82C |
possibly damaging |
Het |
| Hs6st1 |
T |
A |
1: 36,142,893 (GRCm39) |
L276* |
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,392,827 (GRCm39) |
D712G |
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,323,058 (GRCm39) |
S997P |
probably damaging |
Het |
| Ksr1 |
G |
A |
11: 78,927,551 (GRCm39) |
T289I |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,309,124 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,153,694 (GRCm39) |
S674P |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,557,218 (GRCm39) |
V841I |
probably benign |
Het |
| Or10a48 |
T |
C |
7: 108,424,952 (GRCm39) |
T85A |
probably benign |
Het |
| Or8i2 |
T |
C |
2: 86,852,346 (GRCm39) |
T181A |
probably benign |
Het |
| Pigx |
A |
G |
16: 31,906,201 (GRCm39) |
V40A |
probably damaging |
Het |
| Pla2g2d |
T |
G |
4: 138,506,006 (GRCm39) |
M5R |
possibly damaging |
Het |
| Ppa2 |
G |
T |
3: 133,073,644 (GRCm39) |
R234I |
probably damaging |
Het |
| Rbms1 |
A |
C |
2: 60,592,650 (GRCm39) |
L221R |
probably damaging |
Het |
| Rnasel |
C |
A |
1: 153,629,857 (GRCm39) |
N124K |
probably damaging |
Het |
| Serpinb9h |
A |
G |
13: 33,588,513 (GRCm39) |
N366S |
possibly damaging |
Het |
| Sigirr |
T |
A |
7: 140,674,707 (GRCm39) |
|
probably benign |
Het |
| Tas2r136 |
A |
T |
6: 132,754,671 (GRCm39) |
V152E |
probably damaging |
Het |
| Top1mt |
A |
G |
15: 75,540,554 (GRCm39) |
V239A |
probably damaging |
Het |
| Tpd52 |
A |
T |
3: 9,009,775 (GRCm39) |
|
probably null |
Het |
| Trim16 |
T |
A |
11: 62,731,383 (GRCm39) |
L331Q |
possibly damaging |
Het |
| Ttll4 |
A |
G |
1: 74,726,390 (GRCm39) |
|
probably null |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,272 (GRCm39) |
D244V |
probably damaging |
Het |
| Vmn2r72 |
A |
C |
7: 85,387,391 (GRCm39) |
D724E |
probably benign |
Het |
| Zfp563 |
T |
C |
17: 33,321,253 (GRCm39) |
W18R |
probably damaging |
Het |
| Zswim8 |
T |
C |
14: 20,763,142 (GRCm39) |
V347A |
probably benign |
Het |
|
| Other mutations in Tlnrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2015-04-16 |
Incidental Mutation