Incidental Mutation 'R5332:Mmp1b'
| ID |
423311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp1b
|
| Ensembl Gene |
ENSMUSG00000041620 |
| Gene Name |
matrix metallopeptidase 1b (interstitial collagenase) |
| Synonyms |
Mcol-B |
| MMRRC Submission |
042914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R5332 (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: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 87,251,459 (GRCm39) |
|
probably null |
Het |
| Ace |
T |
A |
11: 105,864,705 (GRCm39) |
|
probably null |
Het |
| Bax |
T |
C |
7: 45,116,195 (GRCm39) |
D2G |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,232,703 (GRCm39) |
Y795F |
probably damaging |
Het |
| Coro2b |
T |
C |
9: 62,336,512 (GRCm39) |
D254G |
probably damaging |
Het |
| Crhbp |
G |
T |
13: 95,572,963 (GRCm39) |
P261H |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,125,065 (GRCm39) |
D452G |
probably benign |
Het |
| Gm8444 |
T |
C |
15: 81,727,902 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,218,447 (GRCm39) |
M900K |
possibly damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,559 (GRCm39) |
H116R |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k2 |
A |
G |
18: 32,340,509 (GRCm39) |
D172G |
probably damaging |
Het |
| Mpdz |
A |
C |
4: 81,210,817 (GRCm39) |
H1689Q |
probably damaging |
Het |
| Mybpc3 |
C |
T |
2: 90,953,283 (GRCm39) |
A176V |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,729 (GRCm39) |
T85S |
possibly damaging |
Het |
| Otud7a |
T |
A |
7: 63,385,574 (GRCm39) |
I352N |
probably damaging |
Het |
| Ptrh1 |
T |
C |
2: 32,666,758 (GRCm39) |
V109A |
probably damaging |
Het |
| Pxn |
A |
G |
5: 115,682,428 (GRCm39) |
T14A |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,683,645 (GRCm39) |
L173Q |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,733,038 (GRCm39) |
S603P |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scgb2b19 |
T |
C |
7: 32,978,006 (GRCm39) |
N97S |
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,965,029 (GRCm39) |
I872N |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,125,984 (GRCm39) |
E421G |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,083,276 (GRCm39) |
Y273C |
probably damaging |
Het |
| Vmn2r121 |
T |
C |
X: 123,043,272 (GRCm39) |
T120A |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,903,052 (GRCm39) |
I459L |
probably benign |
Het |
| Zfp974 |
A |
C |
7: 27,625,715 (GRCm39) |
S52A |
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 |
|
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'- ACATGGATCCAGTGTTGCATC -3'
(R):5'- AGTGACTAAGAAGATTTACCCTGG -3'
Sequencing Primer
(F):5'- GATCCAGTGTTGCATCTGTTAAC -3'
(R):5'- ACCCTGGAAGATTATTTCCTTACTAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation