Incidental Mutation 'IGL02749:Mmp23'
| ID |
306211 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mmp23
|
| Ensembl Gene |
ENSMUSG00000029061 |
| Gene Name |
matrix metallopeptidase 23 |
| Synonyms |
CA-MMP, cysteine array matrix metalloproteinase |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02749
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
155735112-155737841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155735989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 221
(M221T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030937]
[ENSMUST00000067081]
[ENSMUST00000103176]
[ENSMUST00000105598]
[ENSMUST00000105600]
|
| AlphaFold |
O88676 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030937
AA Change: M221T
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030937
Gene: ENSMUSG00000029061
AA Change: M221T
| 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: ENSMUST00000155100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139134
|
| 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 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230104M06Rik |
T |
C |
12: 112,963,795 (GRCm39) |
D61G |
probably benign |
Het |
| Albfm1 |
T |
C |
5: 90,719,624 (GRCm39) |
V240A |
possibly damaging |
Het |
| Ascc2 |
G |
A |
11: 4,590,481 (GRCm39) |
|
probably null |
Het |
| Atrn |
C |
T |
2: 130,812,064 (GRCm39) |
Q670* |
probably null |
Het |
| Atrn |
G |
T |
2: 130,789,654 (GRCm39) |
|
probably benign |
Het |
| Calr |
A |
C |
8: 85,571,117 (GRCm39) |
W236G |
probably damaging |
Het |
| Camk2g |
T |
A |
14: 20,816,084 (GRCm39) |
|
probably null |
Het |
| Cd101 |
G |
T |
3: 100,927,715 (GRCm39) |
T122K |
probably damaging |
Het |
| Cert1 |
T |
A |
13: 96,765,643 (GRCm39) |
N469K |
possibly damaging |
Het |
| Cryl1 |
T |
C |
14: 57,541,181 (GRCm39) |
T168A |
probably benign |
Het |
| Diaph3 |
A |
G |
14: 87,156,261 (GRCm39) |
I684T |
probably damaging |
Het |
| Ednrb |
A |
T |
14: 104,060,495 (GRCm39) |
M266K |
possibly damaging |
Het |
| Eif4h |
T |
C |
5: 134,668,146 (GRCm39) |
D3G |
probably damaging |
Het |
| Eny2 |
C |
T |
15: 44,293,031 (GRCm39) |
R28C |
possibly damaging |
Het |
| Epsti1 |
A |
G |
14: 78,177,363 (GRCm39) |
E181G |
probably damaging |
Het |
| Ezh2 |
A |
G |
6: 47,510,698 (GRCm39) |
F598S |
probably damaging |
Het |
| Fat3 |
G |
T |
9: 15,918,007 (GRCm39) |
T1472K |
possibly damaging |
Het |
| Gabra4 |
T |
A |
5: 71,795,490 (GRCm39) |
I262F |
probably benign |
Het |
| Gpat4 |
A |
T |
8: 23,670,886 (GRCm39) |
Y109N |
probably damaging |
Het |
| Gpsm1 |
C |
T |
2: 26,229,687 (GRCm39) |
T36I |
probably damaging |
Het |
| Hikeshi |
C |
T |
7: 89,585,097 (GRCm39) |
V36I |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,473,605 (GRCm39) |
M238V |
probably benign |
Het |
| Hnrnpll |
A |
T |
17: 80,369,420 (GRCm39) |
M1K |
probably null |
Het |
| Irx2 |
G |
A |
13: 72,779,429 (GRCm39) |
D238N |
probably damaging |
Het |
| Kcnip4 |
T |
A |
5: 48,567,127 (GRCm39) |
|
probably benign |
Het |
| Lair1 |
G |
A |
7: 4,031,900 (GRCm39) |
T69I |
possibly damaging |
Het |
| Lamc1 |
A |
G |
1: 153,125,599 (GRCm39) |
I558T |
possibly damaging |
Het |
| Map4k5 |
C |
T |
12: 69,862,580 (GRCm39) |
E639K |
probably benign |
Het |
| Mc4r |
A |
G |
18: 66,992,733 (GRCm39) |
S127P |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,737,887 (GRCm39) |
S587P |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
| Nek9 |
C |
A |
12: 85,352,281 (GRCm39) |
A861S |
probably benign |
Het |
| Nup155 |
T |
A |
15: 8,163,560 (GRCm39) |
Y576N |
probably damaging |
Het |
| Or5w10 |
C |
T |
2: 87,375,001 (GRCm39) |
V296M |
probably damaging |
Het |
| Pcca |
A |
T |
14: 122,771,800 (GRCm39) |
T8S |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,466,900 (GRCm39) |
D1573G |
probably benign |
Het |
| Pdpr |
T |
A |
8: 111,844,722 (GRCm39) |
V373E |
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 59,239,478 (GRCm39) |
L950Q |
possibly damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,624 (GRCm39) |
I415T |
probably damaging |
Het |
| Prss35 |
A |
C |
9: 86,638,297 (GRCm39) |
K356Q |
probably damaging |
Het |
| Psg22 |
A |
T |
7: 18,456,944 (GRCm39) |
T237S |
possibly damaging |
Het |
| Rdh13 |
A |
G |
7: 4,430,703 (GRCm39) |
Y252H |
probably damaging |
Het |
| Sema3d |
T |
C |
5: 12,613,112 (GRCm39) |
|
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,493 (GRCm39) |
V207I |
probably benign |
Het |
| Sparcl1 |
T |
G |
5: 104,240,746 (GRCm39) |
E226A |
possibly damaging |
Het |
| Srms |
C |
A |
2: 180,851,302 (GRCm39) |
A155S |
possibly damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,636,917 (GRCm39) |
I44N |
probably damaging |
Het |
| Tmem236 |
C |
T |
2: 14,224,132 (GRCm39) |
T307M |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,679,155 (GRCm39) |
P4788S |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,716 (GRCm39) |
L39F |
probably benign |
Het |
| Vmn2r90 |
T |
A |
17: 17,947,122 (GRCm39) |
*121R |
probably null |
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 |
|
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 |
|
R4170:Mmp23
|
UTSW |
4 |
155,735,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation