Incidental Mutation 'R5420:Mmp1b'
ID |
427987 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmp1b
|
Ensembl Gene |
ENSMUSG00000041620 |
Gene Name |
matrix metallopeptidase 1b (interstitial collagenase) |
Synonyms |
Mcol-B |
MMRRC Submission |
042988-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R5420 (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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
97% (66/68) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn3 |
TGCGCAGC |
T |
19: 4,915,372 (GRCm39) |
|
probably null |
Het |
Adamts1 |
A |
T |
16: 85,596,497 (GRCm39) |
C117* |
probably null |
Het |
Adgrg6 |
A |
T |
10: 14,302,730 (GRCm39) |
Y894* |
probably null |
Het |
Alas1 |
G |
T |
9: 106,111,358 (GRCm39) |
L603I |
probably benign |
Het |
Arhgap21 |
G |
T |
2: 20,885,897 (GRCm39) |
R427S |
probably damaging |
Het |
Arhgef25 |
A |
T |
10: 127,023,143 (GRCm39) |
V88D |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,202,551 (GRCm39) |
Q691R |
possibly damaging |
Het |
Bpifa6 |
T |
A |
2: 153,831,250 (GRCm39) |
I272N |
probably damaging |
Het |
Cacybp |
T |
C |
1: 160,035,914 (GRCm39) |
|
probably benign |
Het |
Capn3 |
T |
C |
2: 120,325,777 (GRCm39) |
|
probably benign |
Het |
Ccdc47 |
C |
T |
11: 106,101,176 (GRCm39) |
R162Q |
probably benign |
Het |
Cideb |
A |
C |
14: 55,995,748 (GRCm39) |
M1R |
probably null |
Het |
Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,925,322 (GRCm39) |
R760H |
probably damaging |
Het |
Cyp2c23 |
A |
C |
19: 44,004,103 (GRCm39) |
|
probably null |
Het |
Cyp3a13 |
T |
G |
5: 137,897,243 (GRCm39) |
D357A |
probably damaging |
Het |
Dip2b |
C |
T |
15: 100,103,054 (GRCm39) |
|
probably benign |
Het |
Ecm2 |
A |
T |
13: 49,681,210 (GRCm39) |
R448S |
possibly damaging |
Het |
Edil3 |
T |
C |
13: 89,279,891 (GRCm39) |
Y190H |
probably damaging |
Het |
Eps8l1 |
T |
G |
7: 4,473,160 (GRCm39) |
|
probably null |
Het |
Eps8l3 |
A |
T |
3: 107,791,301 (GRCm39) |
K280* |
probably null |
Het |
Fam184a |
A |
G |
10: 53,509,753 (GRCm39) |
F1137L |
probably damaging |
Het |
Fmn2 |
A |
T |
1: 174,526,344 (GRCm39) |
R1388* |
probably null |
Het |
Glt8d2 |
T |
C |
10: 82,488,516 (GRCm39) |
K318R |
probably benign |
Het |
Herc2 |
A |
T |
7: 55,853,578 (GRCm39) |
K3690I |
probably damaging |
Het |
Ifi206 |
T |
A |
1: 173,308,599 (GRCm39) |
I466F |
possibly damaging |
Het |
Jade2 |
T |
C |
11: 51,709,434 (GRCm39) |
K525R |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,759,633 (GRCm39) |
F772I |
probably damaging |
Het |
Lipi |
A |
G |
16: 75,352,757 (GRCm39) |
V360A |
possibly damaging |
Het |
Mbl1 |
C |
T |
14: 40,879,153 (GRCm39) |
S108L |
possibly damaging |
Het |
Mrpl23 |
A |
G |
7: 142,089,874 (GRCm39) |
T25A |
probably damaging |
Het |
Mto1 |
T |
A |
9: 78,360,109 (GRCm39) |
M199K |
probably benign |
Het |
Nes |
A |
T |
3: 87,884,309 (GRCm39) |
N812I |
probably damaging |
Het |
Nfkbie |
T |
A |
17: 45,871,132 (GRCm39) |
D261E |
probably benign |
Het |
Or7e173 |
T |
C |
9: 19,938,355 (GRCm39) |
Y293C |
probably damaging |
Het |
Pakap |
G |
A |
4: 57,856,062 (GRCm39) |
V505I |
probably benign |
Het |
Pakap |
T |
A |
4: 57,856,434 (GRCm39) |
Y588N |
probably damaging |
Het |
Papola |
A |
G |
12: 105,772,754 (GRCm39) |
I114V |
possibly damaging |
Het |
Pappa |
T |
G |
4: 65,254,017 (GRCm39) |
|
probably null |
Het |
Pcdh7 |
T |
A |
5: 57,877,529 (GRCm39) |
D361E |
probably damaging |
Het |
Pick1 |
A |
G |
15: 79,133,040 (GRCm39) |
T367A |
probably benign |
Het |
Plbd2 |
A |
G |
5: 120,632,547 (GRCm39) |
Y152H |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,671,562 (GRCm39) |
E424D |
possibly damaging |
Het |
Rab7b |
C |
T |
1: 131,626,164 (GRCm39) |
T64I |
probably damaging |
Het |
Rarb |
T |
A |
14: 16,434,249 (GRCm38) |
I310F |
possibly damaging |
Het |
Rdh16f2 |
C |
T |
10: 127,712,943 (GRCm39) |
P314S |
possibly damaging |
Het |
Rpain |
A |
T |
11: 70,868,516 (GRCm39) |
|
probably null |
Het |
Rufy3 |
T |
C |
5: 88,788,518 (GRCm39) |
*488Q |
probably null |
Het |
Sash1 |
G |
A |
10: 8,621,950 (GRCm39) |
T398I |
probably damaging |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Scrn1 |
T |
A |
6: 54,489,048 (GRCm39) |
I358F |
probably benign |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Thbs1 |
G |
T |
2: 117,943,636 (GRCm39) |
D85Y |
possibly damaging |
Het |
Thoc2l |
T |
A |
5: 104,666,225 (GRCm39) |
I249N |
probably damaging |
Het |
Trp53 |
T |
C |
11: 69,479,146 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn1r223 |
A |
G |
13: 23,433,675 (GRCm39) |
R90G |
probably benign |
Het |
Zfp521 |
A |
T |
18: 13,977,144 (GRCm39) |
Y1090N |
probably damaging |
Het |
Zfp677 |
T |
C |
17: 21,618,175 (GRCm39) |
C411R |
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 |
|
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 |
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'- TGACTAAGAAGATTTACCCTGGAAG -3'
Sequencing Primer
(F):5'- GATCCAGTGTTGCATCTGTTAAC -3'
(R):5'- ACCCTGGAAGATTATTTCCTTACTAC -3'
|
Posted On |
2016-09-01 |