Incidental Mutation 'R8952:Mmp1b'
| ID |
681709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp1b
|
| Ensembl Gene |
ENSMUSG00000041620 |
| Gene Name |
matrix metallopeptidase 1b (interstitial collagenase) |
| Synonyms |
Mcol-B |
| MMRRC Submission |
068714-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8952 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7368239-7388047 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 7386346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 192
(V192I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047888]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047888
AA Change: V192I
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047261
Gene: ENSMUSG00000041620
AA Change: V192I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
26 |
84 |
1.4e-13 |
PFAM |
|
ZnMc
|
102 |
260 |
3.08e-46 |
SMART |
|
HX
|
281 |
323 |
4.39e-2 |
SMART |
|
HX
|
325 |
369 |
3.51e-10 |
SMART |
|
HX
|
374 |
421 |
1.03e-16 |
SMART |
|
HX
|
423 |
463 |
1.6e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (45/45) |
| 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. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
T |
A |
7: 26,900,025 (GRCm39) |
S134T |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,286,065 (GRCm39) |
N758S |
probably damaging |
Het |
| Asb3 |
C |
A |
11: 31,008,959 (GRCm39) |
Q287K |
probably damaging |
Het |
| Bach1 |
T |
A |
16: 87,512,353 (GRCm39) |
N25K |
probably damaging |
Het |
| Carmil2 |
T |
A |
8: 106,417,398 (GRCm39) |
V552E |
possibly damaging |
Het |
| Cyth4 |
A |
G |
15: 78,486,937 (GRCm39) |
I22V |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,850,958 (GRCm39) |
F848S |
probably benign |
Het |
| Dytn |
G |
A |
1: 63,698,111 (GRCm39) |
R299C |
|
Het |
| Fbxl18 |
C |
T |
5: 142,871,502 (GRCm39) |
A578T |
probably damaging |
Het |
| Galr1 |
C |
T |
18: 82,411,909 (GRCm39) |
C319Y |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,838,757 (GRCm39) |
|
probably benign |
Het |
| Hspa1l |
G |
T |
17: 35,196,946 (GRCm39) |
M328I |
probably benign |
Het |
| Itgad |
A |
T |
7: 127,789,324 (GRCm39) |
Y596F |
probably damaging |
Het |
| Krt19 |
T |
A |
11: 100,031,768 (GRCm39) |
N395Y |
possibly damaging |
Het |
| Lrit1 |
G |
A |
14: 36,783,664 (GRCm39) |
A331T |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,253,735 (GRCm39) |
A252V |
probably damaging |
Het |
| Mucl2 |
C |
T |
15: 103,929,445 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,299,459 (GRCm39) |
D1265G |
probably benign |
Het |
| Ndc1 |
T |
C |
4: 107,247,623 (GRCm39) |
I477T |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,897,545 (GRCm39) |
F137S |
probably benign |
Het |
| Nos2 |
A |
G |
11: 78,836,089 (GRCm39) |
N384S |
probably benign |
Het |
| Nup133 |
T |
C |
8: 124,634,500 (GRCm39) |
I1031V |
probably damaging |
Het |
| Nup98 |
A |
G |
7: 101,835,859 (GRCm39) |
Y195H |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,026,960 (GRCm39) |
C81Y |
probably damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,402 (GRCm39) |
I205V |
probably benign |
Het |
| Pfn2 |
T |
C |
3: 57,752,756 (GRCm39) |
D55G |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,499,499 (GRCm39) |
K485R |
probably damaging |
Het |
| Polr1e |
A |
G |
4: 45,018,727 (GRCm39) |
E19G |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,491,624 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
A |
C |
11: 78,095,773 (GRCm39) |
H135P |
probably benign |
Het |
| Psd |
T |
C |
19: 46,310,900 (GRCm39) |
K383R |
probably damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,091,944 (GRCm39) |
L385P |
probably damaging |
Het |
| Ptpra |
T |
G |
2: 130,386,969 (GRCm39) |
I620S |
probably damaging |
Het |
| Rad54l2 |
T |
A |
9: 106,566,050 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,432,861 (GRCm39) |
N262K |
probably damaging |
Het |
| Stat1 |
G |
T |
1: 52,187,042 (GRCm39) |
V450F |
probably benign |
Het |
| Thada |
G |
A |
17: 84,736,524 (GRCm39) |
T919I |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,468,992 (GRCm39) |
L529I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,748,863 (GRCm39) |
V4062A |
probably benign |
Het |
| Usp9y |
A |
C |
Y: 1,332,662 (GRCm39) |
|
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,285,531 (GRCm39) |
Y117C |
possibly damaging |
Het |
| Wdr33 |
A |
T |
18: 31,960,393 (GRCm39) |
H19L |
possibly damaging |
Het |
| Wdr76 |
C |
A |
2: 121,372,899 (GRCm39) |
H575Q |
probably benign |
Het |
| Xab2 |
A |
G |
8: 3,663,875 (GRCm39) |
V348A |
probably damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,310,207 (GRCm39) |
Y780N |
possibly damaging |
Het |
| Zmynd12 |
T |
C |
4: 119,302,081 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mmp1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Mmp1b
|
APN |
9 |
7,387,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00339:Mmp1b
|
APN |
9 |
7,368,304 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL00832:Mmp1b
|
APN |
9 |
7,387,023 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01110:Mmp1b
|
APN |
9 |
7,384,921 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02121:Mmp1b
|
APN |
9 |
7,384,935 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02143:Mmp1b
|
APN |
9 |
7,386,400 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02698:Mmp1b
|
APN |
9 |
7,384,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02928:Mmp1b
|
APN |
9 |
7,368,242 (GRCm39) |
makesense |
probably null |
|
|
IGL03218:Mmp1b
|
APN |
9 |
7,387,907 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03304:Mmp1b
|
APN |
9 |
7,384,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02802:Mmp1b
|
UTSW |
9 |
7,384,709 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0122:Mmp1b
|
UTSW |
9 |
7,386,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0506:Mmp1b
|
UTSW |
9 |
7,387,013 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0600:Mmp1b
|
UTSW |
9 |
7,387,947 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1454:Mmp1b
|
UTSW |
9 |
7,386,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Mmp1b
|
UTSW |
9 |
7,384,779 (GRCm39) |
splice site |
probably benign |
|
|
R1696:Mmp1b
|
UTSW |
9 |
7,386,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1837:Mmp1b
|
UTSW |
9 |
7,386,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Mmp1b
|
UTSW |
9 |
7,368,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2031:Mmp1b
|
UTSW |
9 |
7,368,607 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2098:Mmp1b
|
UTSW |
9 |
7,386,984 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2107:Mmp1b
|
UTSW |
9 |
7,369,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2847:Mmp1b
|
UTSW |
9 |
7,370,763 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2870:Mmp1b
|
UTSW |
9 |
7,386,875 (GRCm39) |
synonymous |
silent |
|
|
R3944:Mmp1b
|
UTSW |
9 |
7,384,708 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4654:Mmp1b
|
UTSW |
9 |
7,370,849 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4829:Mmp1b
|
UTSW |
9 |
7,370,729 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5329:Mmp1b
|
UTSW |
9 |
7,384,897 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5332:Mmp1b
|
UTSW |
9 |
7,384,897 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5333:Mmp1b
|
UTSW |
9 |
7,384,897 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5418:Mmp1b
|
UTSW |
9 |
7,384,897 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5419:Mmp1b
|
UTSW |
9 |
7,384,897 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5420:Mmp1b
|
UTSW |
9 |
7,384,897 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6053:Mmp1b
|
UTSW |
9 |
7,385,031 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6394:Mmp1b
|
UTSW |
9 |
7,386,316 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6774:Mmp1b
|
UTSW |
9 |
7,387,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6842:Mmp1b
|
UTSW |
9 |
7,384,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Mmp1b
|
UTSW |
9 |
7,386,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Mmp1b
|
UTSW |
9 |
7,385,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Mmp1b
|
UTSW |
9 |
7,384,753 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7658:Mmp1b
|
UTSW |
9 |
7,386,675 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9036:Mmp1b
|
UTSW |
9 |
7,387,909 (GRCm39) |
missense |
probably null |
0.25 |
|
R9349:Mmp1b
|
UTSW |
9 |
7,369,271 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Mmp1b
|
UTSW |
9 |
7,369,322 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGGATTCTCAATGTGCTC -3'
(R):5'- TTGATTTTCTGGAGCCGAAGAG -3'
Sequencing Primer
(F):5'- CAATGTGCTCCTAATTCTCTAAGTGG -3'
(R):5'- TATCACAATGGATGGAAGAACATTG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation