Incidental Mutation 'IGL00163:Mmp1b'
| ID |
1349 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mmp1b
|
| Ensembl Gene |
ENSMUSG00000041620 |
| Gene Name |
matrix metallopeptidase 1b (interstitial collagenase) |
| Synonyms |
Mcol-B |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL00163
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
7368239-7388047 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 7387946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 16
(Y16F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047888]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047888
AA Change: Y16F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000047261
Gene: ENSMUSG00000041620
AA Change: Y16F
| 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 |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
G |
A |
4: 88,786,310 (GRCm39) |
Q103* |
probably null |
Het |
| 4933406P04Rik |
C |
A |
10: 20,186,970 (GRCm39) |
|
probably benign |
Het |
| Adgrg6 |
T |
C |
10: 14,343,194 (GRCm39) |
E251G |
probably damaging |
Het |
| Ago2 |
T |
C |
15: 72,998,302 (GRCm39) |
H292R |
probably benign |
Het |
| Akr1c6 |
T |
C |
13: 4,498,977 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
T |
A |
5: 103,008,265 (GRCm39) |
M62K |
possibly damaging |
Het |
| Bicd1 |
A |
G |
6: 149,451,888 (GRCm39) |
H834R |
possibly damaging |
Het |
| Ccdc77 |
G |
T |
6: 120,306,045 (GRCm39) |
|
probably benign |
Het |
| Cdadc1 |
G |
T |
14: 59,818,818 (GRCm39) |
H337N |
probably damaging |
Het |
| Cep192 |
A |
G |
18: 68,013,871 (GRCm39) |
T2424A |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,946,504 (GRCm39) |
T443A |
probably benign |
Het |
| Chrna1 |
T |
A |
2: 73,400,986 (GRCm39) |
E181D |
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 49,984,534 (GRCm39) |
D177N |
probably damaging |
Het |
| Eif3h |
T |
A |
15: 51,650,195 (GRCm39) |
I330F |
probably damaging |
Het |
| Fam184b |
T |
C |
5: 45,697,091 (GRCm39) |
E691G |
probably benign |
Het |
| Fastkd1 |
T |
A |
2: 69,537,893 (GRCm39) |
S230C |
probably benign |
Het |
| Gipc2 |
T |
C |
3: 151,843,215 (GRCm39) |
I141V |
probably damaging |
Het |
| Hsd17b2 |
A |
T |
8: 118,485,410 (GRCm39) |
D291V |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,292,334 (GRCm39) |
A420V |
possibly damaging |
Het |
| Jag1 |
C |
T |
2: 136,927,952 (GRCm39) |
|
probably null |
Het |
| Minar1 |
A |
T |
9: 89,473,150 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
G |
T |
16: 32,754,090 (GRCm38) |
R1322M |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,801,379 (GRCm39) |
I1179T |
probably benign |
Het |
| Nos1ap |
A |
G |
1: 170,342,175 (GRCm39) |
|
probably benign |
Het |
| Npc1l1 |
A |
T |
11: 6,174,199 (GRCm39) |
V702E |
probably damaging |
Het |
| Or13d1 |
G |
A |
4: 52,971,058 (GRCm39) |
V146M |
possibly damaging |
Het |
| Or1j21 |
A |
G |
2: 36,684,012 (GRCm39) |
I255V |
probably benign |
Het |
| Or2ag17 |
T |
A |
7: 106,389,796 (GRCm39) |
R137S |
probably benign |
Het |
| Or2y10 |
A |
C |
11: 49,454,747 (GRCm39) |
|
probably benign |
Het |
| Or4c31 |
A |
T |
2: 88,291,696 (GRCm39) |
Y4F |
probably benign |
Het |
| Or4f7 |
A |
C |
2: 111,644,126 (GRCm39) |
|
probably benign |
Het |
| Osmr |
A |
T |
15: 6,873,926 (GRCm39) |
L157* |
probably null |
Het |
| Pdzph1 |
T |
C |
17: 59,281,791 (GRCm39) |
T164A |
possibly damaging |
Het |
| Ptn |
T |
C |
6: 36,720,424 (GRCm39) |
K43E |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,209,051 (GRCm39) |
V340A |
probably damaging |
Het |
| Rnf5 |
C |
T |
17: 34,821,083 (GRCm39) |
G83E |
probably damaging |
Het |
| Scin |
G |
T |
12: 40,126,971 (GRCm39) |
Q459K |
probably benign |
Het |
| Serpina5 |
C |
A |
12: 104,071,479 (GRCm39) |
A362D |
probably damaging |
Het |
| Tex47 |
T |
A |
5: 7,355,468 (GRCm39) |
Y216* |
probably null |
Het |
| Tll1 |
A |
T |
8: 64,469,170 (GRCm39) |
H984Q |
probably benign |
Het |
| Tmem259 |
A |
G |
10: 79,815,568 (GRCm39) |
V81A |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,401,066 (GRCm39) |
S1077R |
probably benign |
Het |
| Trgv3 |
G |
A |
13: 19,427,381 (GRCm39) |
S88N |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,153,428 (GRCm39) |
|
probably benign |
Het |
| Tubgcp2 |
T |
C |
7: 139,610,935 (GRCm39) |
T149A |
possibly damaging |
Het |
| Ulk1 |
G |
A |
5: 110,935,738 (GRCm39) |
A25V |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,895,110 (GRCm39) |
E378G |
probably damaging |
Het |
| Vsig10 |
A |
G |
5: 117,476,479 (GRCm39) |
N311S |
probably benign |
Het |
| Zfp511 |
T |
C |
7: 139,617,429 (GRCm39) |
Y144H |
possibly damaging |
Het |
|
| Other mutations in Mmp1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2011-07-12 |
Incidental Mutation