Incidental Mutation 'IGL00777:Mmp23'
| ID |
12044 |
| 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 # |
IGL00777
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
155735112-155737841 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 155735464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 334
(Y334S)
|
| 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: Y334S
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030937
Gene: ENSMUSG00000029061
AA Change: Y334S
| 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: ENSMUST00000139788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139134
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139242
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
G |
5: 50,183,100 (GRCm39) |
I82T |
probably damaging |
Het |
| Cd72 |
T |
C |
4: 43,448,365 (GRCm39) |
Y305C |
possibly damaging |
Het |
| Cldn34c1 |
T |
C |
X: 122,052,570 (GRCm39) |
L103P |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,934,468 (GRCm39) |
L234H |
probably damaging |
Het |
| H1f4 |
T |
A |
13: 23,806,005 (GRCm39) |
|
probably benign |
Het |
| Hgd |
A |
G |
16: 37,433,611 (GRCm39) |
T77A |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,803,022 (GRCm39) |
T1059S |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,937,325 (GRCm39) |
T17A |
probably benign |
Het |
| Lct |
T |
C |
1: 128,215,293 (GRCm39) |
D1761G |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,853,107 (GRCm39) |
S858G |
possibly damaging |
Het |
| Nsd1 |
G |
A |
13: 55,386,548 (GRCm39) |
G101E |
probably damaging |
Het |
| Pdia3 |
T |
A |
2: 121,260,037 (GRCm39) |
L192Q |
probably damaging |
Het |
| Phex |
A |
G |
X: 155,960,528 (GRCm39) |
L672P |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,223,848 (GRCm39) |
|
probably null |
Het |
| Rfk |
T |
A |
19: 17,372,700 (GRCm39) |
V74E |
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,656,933 (GRCm39) |
C467R |
probably damaging |
Het |
| Rufy2 |
G |
A |
10: 62,826,833 (GRCm39) |
C124Y |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,009 (GRCm39) |
I343T |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,281,634 (GRCm39) |
M369K |
probably benign |
Het |
| Spata31e2 |
C |
A |
1: 26,721,173 (GRCm39) |
D1336Y |
probably damaging |
Het |
| Tmem131l |
G |
T |
3: 83,806,597 (GRCm39) |
P1408T |
probably damaging |
Het |
| Tmprss11f |
A |
G |
5: 86,671,924 (GRCm39) |
Y423H |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,049,088 (GRCm39) |
M303K |
probably benign |
Het |
|
| Other mutations in Mmp23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation