Incidental Mutation 'R5419:Mmp1b'
| ID |
427928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp1b
|
| Ensembl Gene |
ENSMUSG00000041620 |
| Gene Name |
matrix metallopeptidase 1b (interstitial collagenase) |
| Synonyms |
Mcol-B |
| MMRRC Submission |
042987-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R5419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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. 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
C |
T |
9: 46,220,624 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,143,533 (GRCm39) |
|
probably null |
Het |
| Akap13 |
A |
T |
7: 75,259,991 (GRCm39) |
T69S |
probably benign |
Het |
| Arl1 |
T |
A |
10: 88,572,966 (GRCm39) |
C80S |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,162,916 (GRCm39) |
L926* |
probably null |
Het |
| Brsk1 |
A |
G |
7: 4,712,003 (GRCm39) |
T618A |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,235,533 (GRCm39) |
H1982R |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,226,059 (GRCm39) |
S559T |
unknown |
Het |
| Clcf1 |
A |
G |
19: 4,272,213 (GRCm39) |
N90S |
possibly damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Cobll1 |
A |
T |
2: 64,933,701 (GRCm39) |
D430E |
possibly damaging |
Het |
| Cyp1a2 |
T |
A |
9: 57,589,794 (GRCm39) |
I7F |
probably benign |
Het |
| Cyp2b23 |
G |
A |
7: 26,380,848 (GRCm39) |
R126* |
probably null |
Het |
| Daam2 |
A |
G |
17: 49,787,782 (GRCm39) |
W444R |
possibly damaging |
Het |
| Dcbld2 |
T |
A |
16: 58,275,621 (GRCm39) |
C446S |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Eif2d |
T |
C |
1: 131,086,035 (GRCm39) |
*177R |
probably null |
Het |
| Fkbp15 |
G |
A |
4: 62,246,114 (GRCm39) |
A438V |
probably damaging |
Het |
| Gjb5 |
G |
A |
4: 127,249,652 (GRCm39) |
A164V |
probably benign |
Het |
| Grin1 |
A |
T |
2: 25,188,285 (GRCm39) |
|
probably null |
Het |
| Grm3 |
A |
G |
5: 9,620,233 (GRCm39) |
F337S |
probably damaging |
Het |
| Hey2 |
T |
A |
10: 30,710,019 (GRCm39) |
T245S |
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,308,797 (GRCm39) |
T400A |
probably benign |
Het |
| Itga7 |
G |
A |
10: 128,779,902 (GRCm39) |
E480K |
probably null |
Het |
| Itpr1 |
T |
C |
6: 108,470,755 (GRCm39) |
Y2227H |
possibly damaging |
Het |
| Krt8 |
T |
C |
15: 101,912,337 (GRCm39) |
D113G |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lins1 |
A |
G |
7: 66,357,843 (GRCm39) |
|
probably benign |
Het |
| Lmf1 |
A |
T |
17: 25,881,610 (GRCm39) |
D553V |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,786,992 (GRCm39) |
S536P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,620,716 (GRCm39) |
C3587* |
probably null |
Het |
| Macf1 |
A |
T |
4: 123,290,917 (GRCm39) |
D3435E |
possibly damaging |
Het |
| Myg1 |
A |
T |
15: 102,245,397 (GRCm39) |
N206I |
probably damaging |
Het |
| Myl12a |
T |
G |
17: 71,301,694 (GRCm39) |
R144S |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,055,179 (GRCm39) |
I454K |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,965,051 (GRCm39) |
D1545G |
probably benign |
Het |
| Ogdhl |
T |
G |
14: 32,061,181 (GRCm39) |
D457E |
probably damaging |
Het |
| Or5ac20 |
T |
A |
16: 59,104,704 (GRCm39) |
D52V |
probably damaging |
Het |
| Or9s18 |
A |
C |
13: 65,300,588 (GRCm39) |
L183F |
probably damaging |
Het |
| Paf1 |
A |
G |
7: 28,095,095 (GRCm39) |
I112V |
possibly damaging |
Het |
| Pate7 |
T |
A |
9: 35,689,407 (GRCm39) |
|
probably null |
Het |
| Pcdhga4 |
C |
T |
18: 37,819,798 (GRCm39) |
P449L |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,127,234 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ptprn2 |
A |
T |
12: 117,148,267 (GRCm39) |
I676F |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,700,927 (GRCm39) |
L1808P |
possibly damaging |
Het |
| Sall2 |
A |
G |
14: 52,550,586 (GRCm39) |
S868P |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,049,017 (GRCm39) |
M1116K |
probably benign |
Het |
| Slc47a2 |
A |
G |
11: 61,198,412 (GRCm39) |
F428L |
probably benign |
Het |
| Slco1a7 |
C |
T |
6: 141,681,826 (GRCm39) |
|
probably null |
Het |
| Slco3a1 |
A |
T |
7: 73,934,363 (GRCm39) |
F603Y |
possibly damaging |
Het |
| Smyd2 |
A |
T |
1: 189,642,090 (GRCm39) |
C65* |
probably null |
Het |
| Ssu72 |
T |
C |
4: 155,800,007 (GRCm39) |
F57L |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,813,709 (GRCm39) |
T1718A |
probably benign |
Het |
| Tnks |
G |
C |
8: 35,432,720 (GRCm39) |
P34A |
unknown |
Het |
| Top3a |
G |
A |
11: 60,653,348 (GRCm39) |
T42I |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,369 (GRCm39) |
S2369P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqln1 |
T |
C |
13: 58,330,997 (GRCm39) |
Q410R |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,224 (GRCm39) |
I32T |
possibly damaging |
Het |
| Xcr1 |
A |
G |
9: 123,685,375 (GRCm39) |
F129S |
probably benign |
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 |
|
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'- ATGGATCCAGTGTTGCATCTG -3'
(R):5'- AGTGACTAAGAAGATTTACCCTGG -3'
Sequencing Primer
(F):5'- GATCCAGTGTTGCATCTGTTAAC -3'
(R):5'- ACCCTGGAAGATTATTTCCTTACTAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation