Incidental Mutation 'R3118:Mmp7'
| ID |
263129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp7
|
| Ensembl Gene |
ENSMUSG00000018623 |
| Gene Name |
matrix metallopeptidase 7 |
| Synonyms |
matrilysin, MAT |
| MMRRC Submission |
040591-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R3118 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7692091-7699586 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7697693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 243
(Y243H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018767]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018767
AA Change: Y243H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018767
Gene: ENSMUSG00000018623
AA Change: Y243H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
31 |
85 |
3e-11 |
PFAM |
|
ZnMc
|
103 |
263 |
5.78e-60 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124572
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Mice lacking the encoded protein are deficient in functional cryptdins. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to induced colitis and corneal wound neovascularization, decreased sensitivity to myocardial infarction and pancreatic duct ligation, impaired tracheal wound healing, and altered tumor susceptibility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
G |
13: 104,450,787 (GRCm39) |
D323E |
possibly damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,826,827 (GRCm39) |
V228A |
possibly damaging |
Het |
| Chrna2 |
A |
G |
14: 66,388,442 (GRCm39) |
I486V |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,235,493 (GRCm39) |
T500A |
possibly damaging |
Het |
| Crebbp |
G |
A |
16: 3,927,062 (GRCm39) |
R628C |
probably damaging |
Het |
| Cxcl1 |
T |
A |
5: 91,039,454 (GRCm39) |
|
probably null |
Het |
| Dab1 |
G |
A |
4: 104,537,266 (GRCm39) |
|
probably null |
Het |
| Ddx11 |
T |
A |
17: 66,456,272 (GRCm39) |
M751K |
probably damaging |
Het |
| Ece1 |
A |
G |
4: 137,675,855 (GRCm39) |
T410A |
probably benign |
Het |
| Eml5 |
C |
T |
12: 98,831,753 (GRCm39) |
V402I |
probably damaging |
Het |
| Fam241b |
A |
T |
10: 61,944,635 (GRCm39) |
*121R |
probably null |
Het |
| Fras1 |
G |
A |
5: 96,919,571 (GRCm39) |
A3595T |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,502,443 (GRCm39) |
V471A |
probably benign |
Het |
| Lemd3 |
A |
G |
10: 120,783,156 (GRCm39) |
S557P |
probably benign |
Het |
| Mkrn3 |
CGGCATTGGCACTGGCATTGGCACTGGCATTGGCA |
CGGCATTGGCACTGGCATTGGCA |
7: 62,068,962 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pak6 |
T |
C |
2: 118,520,222 (GRCm39) |
V71A |
probably damaging |
Het |
| Pira2 |
T |
A |
7: 3,844,676 (GRCm39) |
R452* |
probably null |
Het |
| Plxna1 |
A |
G |
6: 89,333,958 (GRCm39) |
S224P |
possibly damaging |
Het |
| Prpf39 |
T |
C |
12: 65,104,651 (GRCm39) |
V572A |
possibly damaging |
Het |
| Prss12 |
A |
T |
3: 123,298,976 (GRCm39) |
T583S |
possibly damaging |
Het |
| Rgs10 |
T |
C |
7: 128,004,955 (GRCm39) |
E65G |
probably damaging |
Het |
| Rnf19a |
T |
A |
15: 36,242,045 (GRCm39) |
K665* |
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Tbx15 |
T |
C |
3: 99,259,470 (GRCm39) |
I447T |
probably damaging |
Het |
| Tmem135 |
A |
G |
7: 88,797,005 (GRCm39) |
S364P |
probably benign |
Het |
| Ugt1a9 |
T |
C |
1: 87,998,562 (GRCm39) |
V4A |
probably benign |
Het |
| Zfp595 |
T |
C |
13: 67,468,963 (GRCm39) |
I95M |
probably benign |
Het |
|
| Other mutations in Mmp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01349:Mmp7
|
APN |
9 |
7,699,335 (GRCm39) |
splice site |
probably benign |
|
|
IGL01522:Mmp7
|
APN |
9 |
7,692,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Mmp7
|
UTSW |
9 |
7,695,278 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3195:Mmp7
|
UTSW |
9 |
7,692,219 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3196:Mmp7
|
UTSW |
9 |
7,692,219 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4595:Mmp7
|
UTSW |
9 |
7,697,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Mmp7
|
UTSW |
9 |
7,697,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Mmp7
|
UTSW |
9 |
7,695,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6564:Mmp7
|
UTSW |
9 |
7,695,185 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6995:Mmp7
|
UTSW |
9 |
7,695,489 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7146:Mmp7
|
UTSW |
9 |
7,697,587 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7398:Mmp7
|
UTSW |
9 |
7,697,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Mmp7
|
UTSW |
9 |
7,697,749 (GRCm39) |
nonsense |
probably null |
|
|
R9104:Mmp7
|
UTSW |
9 |
7,697,947 (GRCm39) |
intron |
probably benign |
|
|
R9250:Mmp7
|
UTSW |
9 |
7,697,885 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Mmp7
|
UTSW |
9 |
7,695,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mmp7
|
UTSW |
9 |
7,695,179 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATAACTGAGGAAACCTGGG -3'
(R):5'- GCGAATCTTGCATTCTGCTG -3'
Sequencing Primer
(F):5'- CTGAGGAAACCTGGGGACTAG -3'
(R):5'- GCATTCTGCTGTCCTAGTGCATAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation