Incidental Mutation 'IGL01595:Trip6'
| ID |
93392 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trip6
|
| Ensembl Gene |
ENSMUSG00000023348 |
| Gene Name |
thyroid hormone receptor interactor 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01595
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137308160-137312469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 137311675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 101
(T101S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024119]
[ENSMUST00000039991]
[ENSMUST00000199121]
|
| AlphaFold |
Q9Z1Y4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024119
AA Change: T101S
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000024119
Gene: ENSMUSG00000023348
AA Change: T101S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
155 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
262 |
N/A |
INTRINSIC |
|
LIM
|
282 |
335 |
4.59e-14 |
SMART |
|
LIM
|
342 |
394 |
1.41e-14 |
SMART |
|
LIM
|
402 |
464 |
5.65e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039991
|
| SMART Domains |
Protein: ENSMUSP00000038106
Gene: ENSMUSG00000037344
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease
|
42 |
536 |
1.8e-114 |
PFAM |
|
Pfam:SLC12
|
545 |
639 |
4.6e-13 |
PFAM |
|
low complexity region
|
804 |
817 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
888 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198216
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199564
|
| 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 is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
A |
G |
2: 22,968,181 (GRCm39) |
M111V |
probably damaging |
Het |
| Adamts14 |
A |
T |
10: 61,041,252 (GRCm39) |
H819Q |
probably damaging |
Het |
| Adamts7 |
T |
A |
9: 90,075,359 (GRCm39) |
N1072K |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,980,865 (GRCm39) |
Y716* |
probably null |
Het |
| Arfgef3 |
T |
C |
10: 18,470,660 (GRCm39) |
K1702E |
possibly damaging |
Het |
| BB014433 |
C |
A |
8: 15,092,499 (GRCm39) |
|
probably null |
Het |
| Bdnf |
A |
T |
2: 109,554,273 (GRCm39) |
K176* |
probably null |
Het |
| C2cd5 |
C |
T |
6: 142,963,748 (GRCm39) |
R879H |
probably damaging |
Het |
| Capn11 |
T |
A |
17: 45,950,360 (GRCm39) |
H327L |
probably benign |
Het |
| Ccdc68 |
A |
G |
18: 70,089,117 (GRCm39) |
N220S |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,198,238 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
G |
A |
3: 144,793,768 (GRCm39) |
L296F |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,330,027 (GRCm39) |
L2618Q |
probably benign |
Het |
| Gfi1b |
A |
G |
2: 28,501,429 (GRCm39) |
|
probably null |
Het |
| Gpr37 |
G |
T |
6: 25,669,572 (GRCm39) |
T424N |
probably damaging |
Het |
| Kank3 |
G |
A |
17: 34,038,154 (GRCm39) |
|
probably null |
Het |
| Kcnh5 |
T |
C |
12: 74,945,101 (GRCm39) |
Q716R |
probably benign |
Het |
| Kntc1 |
G |
A |
5: 123,941,758 (GRCm39) |
M1817I |
probably benign |
Het |
| Krt79 |
T |
G |
15: 101,840,206 (GRCm39) |
E330A |
probably damaging |
Het |
| Mapk15 |
C |
A |
15: 75,867,129 (GRCm39) |
P82Q |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,993,312 (GRCm39) |
D1649V |
probably damaging |
Het |
| Myo1d |
T |
C |
11: 80,566,936 (GRCm39) |
I326V |
probably benign |
Het |
| Nek9 |
A |
T |
12: 85,361,194 (GRCm39) |
W504R |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,069,111 (GRCm39) |
C337* |
probably null |
Het |
| Nup160 |
A |
G |
2: 90,560,081 (GRCm39) |
N1269D |
probably damaging |
Het |
| Or52e3 |
A |
G |
7: 102,869,558 (GRCm39) |
D211G |
probably damaging |
Het |
| Or56b2 |
T |
C |
7: 104,337,285 (GRCm39) |
M21T |
possibly damaging |
Het |
| Or8c10 |
T |
C |
9: 38,279,346 (GRCm39) |
V168A |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,414,599 (GRCm39) |
M36V |
probably damaging |
Het |
| Perp |
A |
G |
10: 18,731,407 (GRCm39) |
Q122R |
probably damaging |
Het |
| S100a7a |
T |
C |
3: 90,565,107 (GRCm39) |
Y101H |
probably benign |
Het |
| Sbk2 |
C |
A |
7: 4,960,712 (GRCm39) |
V153L |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,356,052 (GRCm39) |
N25I |
probably damaging |
Het |
| Tbx5 |
A |
T |
5: 119,978,903 (GRCm39) |
D105V |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,386,921 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Trip6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02330:Trip6
|
APN |
5 |
137,311,620 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02471:Trip6
|
APN |
5 |
137,308,618 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL03171:Trip6
|
APN |
5 |
137,311,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0058:Trip6
|
UTSW |
5 |
137,309,107 (GRCm39) |
unclassified |
probably benign |
|
|
R0139:Trip6
|
UTSW |
5 |
137,310,436 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0270:Trip6
|
UTSW |
5 |
137,311,103 (GRCm39) |
missense |
probably benign |
|
|
R0464:Trip6
|
UTSW |
5 |
137,311,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0735:Trip6
|
UTSW |
5 |
137,309,083 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1169:Trip6
|
UTSW |
5 |
137,310,182 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3917:Trip6
|
UTSW |
5 |
137,311,941 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4774:Trip6
|
UTSW |
5 |
137,308,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Trip6
|
UTSW |
5 |
137,310,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7008:Trip6
|
UTSW |
5 |
137,311,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9558:Trip6
|
UTSW |
5 |
137,309,075 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Posted On |
2013-12-09 |
Incidental Mutation