Incidental Mutation 'R4170:Mmp23'
| ID |
320736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp23
|
| Ensembl Gene |
ENSMUSG00000029061 |
| Gene Name |
matrix metallopeptidase 23 |
| Synonyms |
CA-MMP, cysteine array matrix metalloproteinase |
| MMRRC Submission |
040863-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155735112-155737841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 155735767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 268
(R268Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030937]
[ENSMUST00000067081]
[ENSMUST00000103176]
[ENSMUST00000105598]
[ENSMUST00000105600]
|
| AlphaFold |
O88676 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030937
AA Change: R268Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030937
Gene: ENSMUSG00000029061
AA Change: R268Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
41 |
N/A |
INTRINSIC |
|
ZnMc
|
85 |
256 |
8.39e-48 |
SMART |
|
ShKT
|
255 |
291 |
4.06e-10 |
SMART |
|
IG
|
307 |
390 |
4.53e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067081
|
| SMART Domains |
Protein: ENSMUSP00000070527
Gene: ENSMUSG00000029062
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
112 |
N/A |
INTRINSIC |
|
coiled coil region
|
123 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
|
coiled coil region
|
290 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
S_TKc
|
427 |
712 |
5.05e-93 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103176
|
| SMART Domains |
Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIB_HERC2
|
12 |
78 |
3.4e-26 |
PFAM |
|
ZnF_ZZ
|
85 |
130 |
6.44e-9 |
SMART |
|
Pfam:MIB_HERC2
|
160 |
225 |
4.2e-26 |
PFAM |
|
Blast:ANK
|
285 |
320 |
2e-13 |
BLAST |
|
ANK
|
428 |
457 |
8.52e-4 |
SMART |
|
ANK
|
461 |
490 |
6.71e-2 |
SMART |
|
ANK
|
494 |
523 |
9.93e-5 |
SMART |
|
ANK
|
527 |
559 |
1.1e2 |
SMART |
|
ANK
|
563 |
593 |
9.21e0 |
SMART |
|
ANK
|
597 |
627 |
3.57e-6 |
SMART |
|
ANK
|
631 |
660 |
3.31e-1 |
SMART |
|
ANK
|
664 |
709 |
1.73e3 |
SMART |
|
Blast:ANK
|
733 |
762 |
9e-10 |
BLAST |
|
low complexity region
|
763 |
772 |
N/A |
INTRINSIC |
|
RING
|
798 |
832 |
2.55e-1 |
SMART |
|
RING
|
877 |
909 |
1.81e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105598
|
| SMART Domains |
Protein: ENSMUSP00000101223
Gene: ENSMUSG00000029062
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
78 |
N/A |
INTRINSIC |
|
coiled coil region
|
89 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
coiled coil region
|
256 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
349 |
N/A |
INTRINSIC |
|
S_TKc
|
393 |
678 |
5.05e-93 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105600
|
| SMART Domains |
Protein: ENSMUSP00000101225
Gene: ENSMUSG00000029062
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
112 |
N/A |
INTRINSIC |
|
coiled coil region
|
123 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
|
coiled coil region
|
290 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
S_TKc
|
427 |
712 |
5.05e-93 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128204
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139134
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151843
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| 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 protein contains an N-terminal cysteine array and a novel immunoglobulin-fold domain at the C-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
All alleles(5) : Targeted(2) Gene trapped(3)
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700047A11Rik |
T |
A |
8: 26,585,815 (GRCm39) |
T63S |
probably benign |
Het |
| Acap3 |
T |
A |
4: 155,984,458 (GRCm39) |
S189T |
possibly damaging |
Het |
| Acsbg2 |
G |
A |
17: 57,160,846 (GRCm39) |
T266I |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,035,933 (GRCm39) |
D1144G |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,223,143 (GRCm39) |
D365G |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,854,638 (GRCm39) |
D1542V |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,717,831 (GRCm39) |
V337D |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
T |
C |
14: 32,288,754 (GRCm39) |
L867P |
probably damaging |
Het |
| Gdf6 |
A |
G |
4: 9,859,650 (GRCm39) |
D244G |
probably benign |
Het |
| Get1 |
G |
A |
16: 95,954,176 (GRCm39) |
A92T |
probably benign |
Het |
| Gzmn |
T |
C |
14: 56,404,261 (GRCm39) |
D192G |
possibly damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,817,529 (GRCm39) |
Q169* |
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Or1j17 |
C |
A |
2: 36,578,734 (GRCm39) |
T240N |
probably damaging |
Het |
| Or5p58 |
T |
A |
7: 107,694,280 (GRCm39) |
I166L |
probably benign |
Het |
| Prmt3 |
G |
T |
7: 49,476,524 (GRCm39) |
A378S |
probably benign |
Het |
| Ptf1a |
C |
T |
2: 19,451,819 (GRCm39) |
L273F |
possibly damaging |
Het |
| Ptpru |
A |
T |
4: 131,503,659 (GRCm39) |
Y1124N |
probably damaging |
Het |
| Rtkn |
T |
G |
6: 83,119,376 (GRCm39) |
M1R |
probably null |
Het |
| Rttn |
T |
A |
18: 88,993,847 (GRCm39) |
F175I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,583,886 (GRCm39) |
D468G |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Smarcd1 |
T |
C |
15: 99,605,812 (GRCm39) |
L320P |
probably damaging |
Het |
| Sox2 |
A |
T |
3: 34,704,703 (GRCm39) |
M47L |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,920,037 (GRCm39) |
M2258T |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,800,988 (GRCm39) |
D1431E |
probably benign |
Het |
| Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
| Tut4 |
A |
G |
4: 108,405,256 (GRCm39) |
Y1293C |
probably damaging |
Het |
| Zbtb46 |
T |
C |
2: 181,066,148 (GRCm39) |
M1V |
probably null |
Het |
| Zfp7 |
T |
C |
15: 76,775,818 (GRCm39) |
V620A |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,083,832 (GRCm39) |
F95I |
probably damaging |
Het |
|
| Other mutations in Mmp23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00777:Mmp23
|
APN |
4 |
155,735,464 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02749:Mmp23
|
APN |
4 |
155,735,989 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0030:Mmp23
|
UTSW |
4 |
155,735,768 (GRCm39) |
nonsense |
probably null |
|
|
R0173:Mmp23
|
UTSW |
4 |
155,735,222 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0244:Mmp23
|
UTSW |
4 |
155,736,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Mmp23
|
UTSW |
4 |
155,735,174 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1696:Mmp23
|
UTSW |
4 |
155,735,166 (GRCm39) |
makesense |
probably null |
|
|
R1957:Mmp23
|
UTSW |
4 |
155,736,509 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2055:Mmp23
|
UTSW |
4 |
155,736,444 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3946:Mmp23
|
UTSW |
4 |
155,736,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Mmp23
|
UTSW |
4 |
155,735,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5660:Mmp23
|
UTSW |
4 |
155,735,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Mmp23
|
UTSW |
4 |
155,735,990 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6480:Mmp23
|
UTSW |
4 |
155,736,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Mmp23
|
UTSW |
4 |
155,736,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7979:Mmp23
|
UTSW |
4 |
155,736,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9500:Mmp23
|
UTSW |
4 |
155,736,567 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9545:Mmp23
|
UTSW |
4 |
155,735,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9757:Mmp23
|
UTSW |
4 |
155,735,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAAATGGGAATTCTACTCAAG -3'
(R):5'- AAGATCAGGCGCTCATGCAC -3'
Sequencing Primer
(F):5'- TGGGAATTCTACTCAAGAGAATGGTG -3'
(R):5'- CAATGCCACATTGCGAGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation