Incidental Mutation 'R1454:Mmp1b'
| ID |
162207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp1b
|
| Ensembl Gene |
ENSMUSG00000041620 |
| Gene Name |
matrix metallopeptidase 1b (interstitial collagenase) |
| Synonyms |
Mcol-B |
| MMRRC Submission |
039509-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R1454 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7368239-7388047 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 7386693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 144
(L144V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047888]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047888
AA Change: L144V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047261
Gene: ENSMUSG00000041620
AA Change: L144V
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.2%
|
| Validation Efficiency |
97% (58/60) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
A |
G |
16: 85,666,881 (GRCm39) |
V537A |
possibly damaging |
Het |
| Adcy10 |
A |
T |
1: 165,342,949 (GRCm39) |
I272F |
possibly damaging |
Het |
| Adcy6 |
A |
G |
15: 98,502,609 (GRCm39) |
S2P |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,765,528 (GRCm39) |
|
probably null |
Het |
| Aldh3a2 |
A |
G |
11: 61,155,928 (GRCm39) |
V116A |
probably benign |
Het |
| Ankdd1b |
A |
T |
13: 96,569,913 (GRCm39) |
|
probably null |
Het |
| Antxrl |
G |
A |
14: 33,782,906 (GRCm39) |
V233I |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,302,590 (GRCm39) |
I38V |
probably benign |
Het |
| Atxn7l2 |
A |
G |
3: 108,115,748 (GRCm39) |
|
probably benign |
Het |
| Bfsp2 |
A |
T |
9: 103,357,424 (GRCm39) |
M1K |
probably null |
Het |
| Camsap3 |
T |
A |
8: 3,653,968 (GRCm39) |
I520N |
possibly damaging |
Het |
| Cenpc1 |
C |
T |
5: 86,161,369 (GRCm39) |
V854I |
possibly damaging |
Het |
| Csnk2a1 |
T |
C |
2: 152,099,347 (GRCm39) |
L88S |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,903,517 (GRCm39) |
N171D |
probably damaging |
Het |
| Dctn1 |
G |
C |
6: 83,174,490 (GRCm39) |
A1077P |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,453,338 (GRCm39) |
|
probably benign |
Het |
| Egfr |
A |
T |
11: 16,839,920 (GRCm39) |
I645L |
probably benign |
Het |
| Gdpd1 |
T |
G |
11: 86,950,335 (GRCm39) |
K79N |
possibly damaging |
Het |
| Ggt5 |
A |
T |
10: 75,445,742 (GRCm39) |
L432F |
probably benign |
Het |
| Gm11060 |
A |
G |
2: 104,924,097 (GRCm39) |
T22A |
unknown |
Het |
| Gpr132 |
G |
A |
12: 112,815,860 (GRCm39) |
T322I |
possibly damaging |
Het |
| Grin1 |
G |
A |
2: 25,182,442 (GRCm39) |
R940* |
probably null |
Het |
| Hip1 |
T |
C |
5: 135,467,486 (GRCm39) |
T316A |
probably benign |
Het |
| Hnrnpm |
A |
G |
17: 33,885,462 (GRCm39) |
|
probably benign |
Het |
| Hsd3b5 |
G |
A |
3: 98,526,846 (GRCm39) |
T200I |
probably benign |
Het |
| Hspa9 |
A |
T |
18: 35,071,659 (GRCm39) |
L647H |
probably damaging |
Het |
| Itgad |
T |
C |
7: 127,791,309 (GRCm39) |
I727T |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,513,268 (GRCm39) |
D522G |
probably damaging |
Het |
| Lipf |
C |
T |
19: 33,948,132 (GRCm39) |
|
probably benign |
Het |
| Ly6i |
T |
C |
15: 74,854,904 (GRCm39) |
D2G |
possibly damaging |
Het |
| Mast1 |
G |
A |
8: 85,647,264 (GRCm39) |
P631L |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,186 (GRCm39) |
S314G |
probably benign |
Het |
| Myo5c |
G |
A |
9: 75,170,348 (GRCm39) |
V493I |
possibly damaging |
Het |
| Nefm |
A |
G |
14: 68,358,828 (GRCm39) |
L402P |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,531,476 (GRCm39) |
F697S |
probably damaging |
Het |
| Or13c7b |
A |
T |
4: 43,820,639 (GRCm39) |
C241S |
probably damaging |
Het |
| Pex13 |
A |
G |
11: 23,599,422 (GRCm39) |
I363T |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,932,414 (GRCm39) |
R1082G |
possibly damaging |
Het |
| Psg28 |
A |
T |
7: 18,161,889 (GRCm39) |
S205T |
possibly damaging |
Het |
| Pxt1 |
C |
A |
17: 29,153,756 (GRCm39) |
V26L |
possibly damaging |
Het |
| Ripk2 |
G |
A |
4: 16,163,239 (GRCm39) |
T53M |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,741,161 (GRCm39) |
V495A |
probably benign |
Het |
| Snrpa |
T |
C |
7: 26,892,362 (GRCm39) |
K66R |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,732,643 (GRCm39) |
E145V |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
| Tatdn2 |
T |
A |
6: 113,681,288 (GRCm39) |
D440E |
probably benign |
Het |
| Tbc1d21 |
A |
G |
9: 58,270,096 (GRCm39) |
|
probably null |
Het |
| Tbc1d31 |
T |
A |
15: 57,815,034 (GRCm39) |
Y570* |
probably null |
Het |
| Tbc1d32 |
A |
T |
10: 56,053,575 (GRCm39) |
|
probably benign |
Het |
| Tdrd5 |
G |
C |
1: 156,087,406 (GRCm39) |
Q839E |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,935,387 (GRCm39) |
N1402S |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,153 (GRCm39) |
D921G |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,491,524 (GRCm39) |
V803A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,966,480 (GRCm39) |
E461G |
probably damaging |
Het |
| Zp3 |
T |
A |
5: 136,013,042 (GRCm39) |
I152N |
probably damaging |
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 |
|
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 |
|
R8952:Mmp1b
|
UTSW |
9 |
7,386,346 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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'- ACTGTGAGAGGCAATGTGAGTCAAC -3'
(R):5'- ACCCTGAGAGCTATGAAGAAGCCC -3'
Sequencing Primer
(F):5'- GGCAATGTGAGTCAACTTACC -3'
(R):5'- TGATGTGGCCCCATATGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation