Incidental Mutation 'R5660:Mmp23'
ID |
444025 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmp23
|
Ensembl Gene |
ENSMUSG00000029061 |
Gene Name |
matrix metallopeptidase 23 |
Synonyms |
CA-MMP, cysteine array matrix metalloproteinase |
MMRRC Submission |
043173-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5660 (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 155735710 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 287
(C287Y)
|
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: C287Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030937 Gene: ENSMUSG00000029061 AA Change: C287Y
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: ENSMUST00000155100
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139134
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139788
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139242
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143196
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,757,828 (GRCm39) |
N1307S |
probably benign |
Het |
Abcf1 |
A |
T |
17: 36,274,539 (GRCm39) |
D41E |
possibly damaging |
Het |
Adamts13 |
T |
C |
2: 26,886,761 (GRCm39) |
V966A |
probably benign |
Het |
Adamts2 |
A |
T |
11: 50,667,472 (GRCm39) |
D470V |
probably damaging |
Het |
Adar |
T |
C |
3: 89,642,901 (GRCm39) |
F261L |
probably damaging |
Het |
Akap3 |
C |
T |
6: 126,842,254 (GRCm39) |
A291V |
probably damaging |
Het |
Akr1c6 |
G |
A |
13: 4,499,053 (GRCm39) |
V214I |
probably benign |
Het |
Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
Arhgap11a |
T |
A |
2: 113,672,255 (GRCm39) |
I238F |
possibly damaging |
Het |
Atg2b |
A |
T |
12: 105,615,383 (GRCm39) |
Y1024* |
probably null |
Het |
Cad |
T |
A |
5: 31,234,191 (GRCm39) |
D1956E |
probably damaging |
Het |
Cbs |
A |
T |
17: 31,843,220 (GRCm39) |
I237N |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,542,337 (GRCm39) |
T180A |
probably benign |
Het |
Cftr |
T |
A |
6: 18,313,686 (GRCm39) |
N1303K |
probably benign |
Het |
Col6a4 |
A |
G |
9: 105,873,315 (GRCm39) |
S2227P |
probably benign |
Het |
Crebbp |
A |
T |
16: 3,972,722 (GRCm39) |
M324K |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,321,574 (GRCm39) |
K4363R |
probably damaging |
Het |
Eif2b4 |
A |
T |
5: 31,348,500 (GRCm39) |
Y238N |
probably benign |
Het |
Fam83c |
G |
A |
2: 155,671,509 (GRCm39) |
A642V |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,175,002 (GRCm39) |
T1904S |
probably benign |
Het |
Flt3 |
T |
C |
5: 147,306,291 (GRCm39) |
N279S |
possibly damaging |
Het |
Galnt4 |
A |
G |
10: 98,945,397 (GRCm39) |
N374S |
probably benign |
Het |
Gm14401 |
T |
A |
2: 176,778,224 (GRCm39) |
H103Q |
probably damaging |
Het |
Gm5422 |
A |
T |
10: 31,126,048 (GRCm39) |
|
noncoding transcript |
Het |
Helb |
G |
A |
10: 119,946,984 (GRCm39) |
Q110* |
probably null |
Het |
Ido1 |
T |
C |
8: 25,081,558 (GRCm39) |
D41G |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,898,152 (GRCm39) |
S805P |
probably benign |
Het |
Matr3 |
C |
A |
18: 35,705,147 (GRCm39) |
A24E |
probably damaging |
Het |
Mrnip |
A |
G |
11: 50,087,918 (GRCm39) |
R147G |
probably null |
Het |
Msh6 |
A |
G |
17: 88,292,147 (GRCm39) |
K301E |
possibly damaging |
Het |
Or12d13 |
A |
G |
17: 37,647,535 (GRCm39) |
L196P |
probably damaging |
Het |
Or8g4 |
G |
A |
9: 39,662,063 (GRCm39) |
C127Y |
probably damaging |
Het |
Ptar1 |
T |
A |
19: 23,671,776 (GRCm39) |
C60S |
probably benign |
Het |
Rora |
A |
G |
9: 68,561,203 (GRCm39) |
S11G |
probably benign |
Het |
Rps6ka5 |
G |
T |
12: 100,585,839 (GRCm39) |
H151Q |
possibly damaging |
Het |
Sgsh |
A |
G |
11: 119,241,807 (GRCm39) |
S100P |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,694,902 (GRCm39) |
T1229A |
probably benign |
Het |
Slc26a11 |
T |
C |
11: 119,248,804 (GRCm39) |
Y62H |
probably damaging |
Het |
Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
Smg1 |
C |
T |
7: 117,742,570 (GRCm39) |
V3215I |
probably benign |
Het |
Smyd2 |
G |
A |
1: 189,617,579 (GRCm39) |
P285L |
possibly damaging |
Het |
Themis2 |
T |
C |
4: 132,523,567 (GRCm39) |
|
probably null |
Het |
Tln1 |
A |
G |
4: 43,547,732 (GRCm39) |
V743A |
probably damaging |
Het |
Tpo |
T |
A |
12: 30,150,495 (GRCm39) |
N462Y |
possibly damaging |
Het |
Wnt2 |
T |
A |
6: 18,028,145 (GRCm39) |
M30L |
probably benign |
Het |
Zfyve9 |
T |
C |
4: 108,576,365 (GRCm39) |
I239V |
probably benign |
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 |
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 |
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'- GTGGAAGGTCATGTTCCTACC -3'
(R):5'- TACACCGACTCTATGGTGGG -3'
Sequencing Primer
(F):5'- GGAAGGTCATGTTCCTACCCTCTC -3'
(R):5'- CCGACTCTATGGTGGGTGCAG -3'
|
Posted On |
2016-11-09 |