Incidental Mutation 'R5329:Mmp1b'
ID |
422223 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmp1b
|
Ensembl Gene |
ENSMUSG00000041620 |
Gene Name |
matrix metallopeptidase 1b (interstitial collagenase) |
Synonyms |
Mcol-B |
MMRRC Submission |
042911-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R5329 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
7368239-7388047 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 7384897 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 251
(I251V)
|
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: I251V
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000047261 Gene: ENSMUSG00000041620 AA Change: I251V
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 |
|
Meta Mutation Damage Score |
0.0816 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (61/62) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430005L14Rik |
G |
A |
4: 154,044,284 (GRCm39) |
V32I |
probably benign |
Het |
Abcg4 |
A |
T |
9: 44,190,842 (GRCm39) |
M19K |
probably benign |
Het |
Acsm1 |
A |
G |
7: 119,255,274 (GRCm39) |
T392A |
probably benign |
Het |
Adam19 |
A |
T |
11: 46,015,853 (GRCm39) |
I338F |
probably damaging |
Het |
Adamdec1 |
C |
T |
14: 68,807,612 (GRCm39) |
M349I |
probably damaging |
Het |
Arhgef11 |
T |
A |
3: 87,587,059 (GRCm39) |
|
probably benign |
Het |
Bptf |
T |
C |
11: 106,964,121 (GRCm39) |
D1628G |
probably benign |
Het |
Camk2d |
C |
T |
3: 126,391,131 (GRCm39) |
Q15* |
probably null |
Het |
Camk2g |
T |
G |
14: 20,843,999 (GRCm39) |
D12A |
possibly damaging |
Het |
Cemip2 |
T |
C |
19: 21,775,693 (GRCm39) |
I312T |
probably benign |
Het |
Cgn |
T |
C |
3: 94,687,300 (GRCm39) |
M1V |
probably null |
Het |
Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
Dcbld1 |
C |
A |
10: 52,160,353 (GRCm39) |
|
probably benign |
Het |
Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
Efcab3 |
T |
G |
11: 104,644,632 (GRCm39) |
|
probably null |
Het |
Espl1 |
T |
A |
15: 102,220,953 (GRCm39) |
L903Q |
probably damaging |
Het |
Gm5117 |
T |
A |
8: 32,227,910 (GRCm39) |
|
noncoding transcript |
Het |
Gm5150 |
T |
C |
3: 16,017,588 (GRCm39) |
T228A |
probably benign |
Het |
Gm5435 |
A |
T |
12: 82,543,250 (GRCm39) |
|
noncoding transcript |
Het |
Gpr156 |
T |
A |
16: 37,825,810 (GRCm39) |
C676S |
probably benign |
Het |
Gstt3 |
C |
T |
10: 75,610,685 (GRCm39) |
E230K |
possibly damaging |
Het |
Jarid2 |
A |
G |
13: 45,059,747 (GRCm39) |
I660V |
possibly damaging |
Het |
Kif13a |
A |
G |
13: 46,928,877 (GRCm39) |
|
probably null |
Het |
Kntc1 |
T |
A |
5: 123,902,254 (GRCm39) |
V299D |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Lipk |
T |
A |
19: 33,997,613 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
T |
C |
18: 77,420,378 (GRCm39) |
L334P |
probably damaging |
Het |
Macc1 |
T |
A |
12: 119,410,212 (GRCm39) |
Y327N |
probably damaging |
Het |
Man2a2 |
G |
A |
7: 80,010,876 (GRCm39) |
S705L |
possibly damaging |
Het |
Ncam2 |
A |
T |
16: 81,231,707 (GRCm39) |
Q57L |
probably damaging |
Het |
Nedd1 |
T |
C |
10: 92,522,102 (GRCm39) |
E645G |
probably damaging |
Het |
Nfatc1 |
A |
T |
18: 80,751,332 (GRCm39) |
M1K |
probably null |
Het |
Nlrp9b |
A |
T |
7: 19,757,916 (GRCm39) |
R384S |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,780,354 (GRCm39) |
H62R |
possibly damaging |
Het |
Or2h2b-ps1 |
T |
A |
17: 37,480,891 (GRCm39) |
Y216F |
probably damaging |
Het |
Or4c125 |
T |
A |
2: 89,169,803 (GRCm39) |
Y281F |
probably damaging |
Het |
Or51i1 |
T |
C |
7: 103,671,204 (GRCm39) |
H107R |
probably damaging |
Het |
Or8b39 |
A |
T |
9: 37,996,422 (GRCm39) |
M97L |
probably benign |
Het |
Or8h7 |
A |
G |
2: 86,720,964 (GRCm39) |
L185S |
probably damaging |
Het |
Pdzph1 |
T |
A |
17: 59,281,875 (GRCm39) |
I136F |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,462,026 (GRCm39) |
I119T |
probably damaging |
Het |
R3hdm2 |
A |
G |
10: 127,294,762 (GRCm39) |
H215R |
probably damaging |
Het |
Septin14 |
C |
T |
5: 129,762,978 (GRCm39) |
|
probably null |
Het |
Slc9a3 |
T |
C |
13: 74,299,079 (GRCm39) |
M166T |
possibly damaging |
Het |
Spock3 |
A |
G |
8: 63,798,816 (GRCm39) |
D279G |
probably damaging |
Het |
Suco |
T |
C |
1: 161,660,999 (GRCm39) |
I967V |
probably damaging |
Het |
Tgtp1 |
A |
G |
11: 48,878,003 (GRCm39) |
L234P |
probably damaging |
Het |
Tmem176a |
A |
G |
6: 48,819,151 (GRCm39) |
D4G |
probably benign |
Het |
Ugt1a10 |
G |
A |
1: 88,143,976 (GRCm39) |
A199T |
probably damaging |
Het |
Uox |
A |
G |
3: 146,330,300 (GRCm39) |
D152G |
probably damaging |
Het |
Vmn1r35 |
C |
T |
6: 66,656,490 (GRCm39) |
W60* |
probably null |
Het |
Vmn2r103 |
T |
C |
17: 20,032,433 (GRCm39) |
C736R |
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 |
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 |
|
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'- ACATGGATCCAGTGTTGCATCTG -3'
(R):5'- GTGACTAAGAAGATTTACCCTGGAAG -3'
Sequencing Primer
(F):5'- GATCCAGTGTTGCATCTGTTAAC -3'
(R):5'- ACCCTGGAAGATTATTTCCTTACTAC -3'
|
Posted On |
2016-08-04 |