Incidental Mutation 'IGL02368:Timp4'
| ID |
290812 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Timp4
|
| Ensembl Gene |
ENSMUSG00000030317 |
| Gene Name |
tissue inhibitor of metalloproteinase 4 |
| Synonyms |
TIMP-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL02368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
115221405-115229166 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 115223360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009538]
[ENSMUST00000032462]
[ENSMUST00000166681]
[ENSMUST00000169345]
[ENSMUST00000203450]
[ENSMUST00000205131]
|
| AlphaFold |
Q9JHB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009538
|
| SMART Domains |
Protein: ENSMUSP00000009538
Gene: ENSMUSG00000009394
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synapsin_N
|
2 |
33 |
3.4e-24 |
PFAM |
|
Pfam:Synapsin
|
112 |
213 |
6.4e-48 |
PFAM |
|
Pfam:Synapsin_C
|
215 |
417 |
8.2e-140 |
PFAM |
|
low complexity region
|
450 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
562 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032462
AA Change: Y188N
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000032462
Gene: ENSMUSG00000030317
AA Change: Y188N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
NTR
|
30 |
207 |
1.85e-122 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166681
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169345
|
| SMART Domains |
Protein: ENSMUSP00000133121
Gene: ENSMUSG00000009394
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synapsin_N
|
2 |
33 |
1.3e-24 |
PFAM |
|
Pfam:Synapsin
|
109 |
213 |
1.6e-62 |
PFAM |
|
Pfam:Synapsin_C
|
215 |
417 |
4.4e-133 |
PFAM |
|
Pfam:RimK
|
247 |
403 |
4.5e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203450
|
| SMART Domains |
Protein: ENSMUSP00000144921
Gene: ENSMUSG00000009394
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synapsin_N
|
2 |
33 |
2.7e-24 |
PFAM |
|
Pfam:Synapsin
|
112 |
213 |
4.6e-48 |
PFAM |
|
Pfam:Synapsin_C
|
215 |
417 |
5.3e-140 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203707
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203768
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205131
|
| SMART Domains |
Protein: ENSMUSP00000144785
Gene: ENSMUSG00000030317
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
NTR
|
30 |
175 |
2.6e-76 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204617
|
| 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 belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show increased lethality associated with left ventricle rupture following left anterior descending coronary artery ligation. Aged mice exhibit reduced myocardial performance index, decreased coronary flow rate, and increased left ventricle thickness and weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
G |
18: 69,083,060 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
C |
A |
17: 24,506,767 (GRCm39) |
V1196L |
probably benign |
Het |
| Aldh4a1 |
G |
A |
4: 139,375,511 (GRCm39) |
W540* |
probably null |
Het |
| Antxr2 |
G |
A |
5: 98,097,057 (GRCm39) |
P352L |
probably damaging |
Het |
| Atic |
C |
T |
1: 71,603,724 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,475,551 (GRCm39) |
|
probably benign |
Het |
| Clspn |
T |
C |
4: 126,459,900 (GRCm39) |
S207P |
probably benign |
Het |
| Depdc1b |
A |
C |
13: 108,500,113 (GRCm39) |
T209P |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,671 (GRCm39) |
I117T |
probably damaging |
Het |
| Eya2 |
T |
A |
2: 165,605,638 (GRCm39) |
D347E |
probably damaging |
Het |
| Gm10748 |
G |
T |
3: 5,280,061 (GRCm39) |
|
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,524 (GRCm39) |
N107S |
possibly damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,026 (GRCm39) |
F173L |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,769,792 (GRCm39) |
V89F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,652 (GRCm39) |
S1510T |
probably benign |
Het |
| Il4 |
A |
T |
11: 53,503,463 (GRCm39) |
N22K |
probably damaging |
Het |
| Izumo2 |
T |
G |
7: 44,358,261 (GRCm39) |
L32R |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,261,855 (GRCm39) |
L359P |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,767,828 (GRCm39) |
K1376R |
probably benign |
Het |
| Ncam1 |
G |
A |
9: 49,454,383 (GRCm39) |
R543* |
probably null |
Het |
| Pax2 |
A |
G |
19: 44,823,848 (GRCm39) |
N347S |
possibly damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,631,498 (GRCm39) |
L377P |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,403,357 (GRCm39) |
V48A |
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,493,337 (GRCm39) |
Y255H |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,218 (GRCm39) |
|
probably null |
Het |
| Rpn2 |
A |
G |
2: 157,144,328 (GRCm39) |
N330S |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,478 (GRCm39) |
S604G |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,814,904 (GRCm39) |
D200G |
probably benign |
Het |
| Slco4a1 |
T |
G |
2: 180,114,921 (GRCm39) |
F615V |
probably damaging |
Het |
| Snx2 |
T |
C |
18: 53,322,793 (GRCm39) |
S59P |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,148,092 (GRCm39) |
|
probably benign |
Het |
| Txnrd1 |
C |
A |
10: 82,731,808 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Timp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01302:Timp4
|
APN |
6 |
115,223,269 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02267:Timp4
|
APN |
6 |
115,224,240 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02501:Timp4
|
APN |
6 |
115,223,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02636:Timp4
|
APN |
6 |
115,226,785 (GRCm39) |
splice site |
probably null |
|
|
R0534:Timp4
|
UTSW |
6 |
115,226,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Timp4
|
UTSW |
6 |
115,226,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Timp4
|
UTSW |
6 |
115,227,364 (GRCm39) |
splice site |
probably null |
|
|
R5994:Timp4
|
UTSW |
6 |
115,224,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Timp4
|
UTSW |
6 |
115,224,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7537:Timp4
|
UTSW |
6 |
115,227,421 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7869:Timp4
|
UTSW |
6 |
115,227,355 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9207:Timp4
|
UTSW |
6 |
115,224,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Timp4
|
UTSW |
6 |
115,228,738 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
|
| Posted On |
2015-04-16 |
Incidental Mutation