Incidental Mutation 'R5516:Mmp27'
| ID |
431293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp27
|
| Ensembl Gene |
ENSMUSG00000070323 |
| Gene Name |
matrix metallopeptidase 27 |
| Synonyms |
LOC234911 |
| MMRRC Submission |
043075-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R5516 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7571396-7581885 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7579062 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 413
(R413G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120900]
[ENSMUST00000151853]
|
| AlphaFold |
D3YV89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093896
AA Change: R439G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091423
Gene: ENSMUSG00000070323
AA Change: R439G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
40 |
100 |
1.4e-13 |
PFAM |
|
ZnMc
|
116 |
303 |
1.81e-43 |
SMART |
|
HX
|
326 |
368 |
5.97e-4 |
SMART |
|
HX
|
370 |
412 |
1.1e-7 |
SMART |
|
HX
|
417 |
464 |
1.09e-6 |
SMART |
|
HX
|
466 |
506 |
3.2e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120900
AA Change: R413G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
AA Change: R413G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
40 |
100 |
1e-13 |
PFAM |
|
ZnMc
|
116 |
277 |
1.76e-50 |
SMART |
|
HX
|
300 |
342 |
5.97e-4 |
SMART |
|
HX
|
344 |
386 |
1.1e-7 |
SMART |
|
HX
|
391 |
438 |
1.09e-6 |
SMART |
|
HX
|
440 |
480 |
3.2e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151853
AA Change: R439G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: R439G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
40 |
100 |
1.1e-13 |
PFAM |
|
ZnMc
|
116 |
303 |
1.81e-43 |
SMART |
|
HX
|
326 |
368 |
5.97e-4 |
SMART |
|
HX
|
370 |
412 |
1.1e-7 |
SMART |
|
HX
|
417 |
464 |
1.09e-6 |
SMART |
|
HX
|
466 |
506 |
3.2e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152878
AA Change: R357G
|
| SMART Domains |
Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323
AA Change: R357G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
39 |
99 |
1.1e-13 |
PFAM |
|
ZnMc
|
115 |
295 |
1.41e-13 |
SMART |
|
HX
|
245 |
287 |
5.97e-4 |
SMART |
|
HX
|
289 |
331 |
1.1e-7 |
SMART |
|
HX
|
336 |
383 |
1.09e-6 |
SMART |
|
HX
|
385 |
425 |
3.2e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.3985 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.4%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,431,157 |
K334R |
probably damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,596,945 |
I809F |
possibly damaging |
Het |
| Bmp2k |
T |
A |
5: 97,087,453 |
|
probably benign |
Het |
| C1qtnf9 |
T |
A |
14: 60,779,749 |
C243S |
probably damaging |
Het |
| Cacna1c |
G |
A |
6: 119,057,218 |
A146V |
probably damaging |
Het |
| Ccdc85c |
A |
G |
12: 108,207,850 |
V353A |
probably damaging |
Het |
| Cd300ld2 |
G |
T |
11: 115,012,444 |
|
probably benign |
Het |
| Cd320 |
A |
G |
17: 33,848,047 |
Q170R |
possibly damaging |
Het |
| Cfap43 |
C |
T |
19: 47,738,209 |
|
probably null |
Het |
| Chid1 |
A |
G |
7: 141,496,146 |
S365P |
probably damaging |
Het |
| Chrna7 |
T |
G |
7: 63,099,298 |
T479P |
probably damaging |
Het |
| Clasp1 |
G |
T |
1: 118,497,721 |
R35L |
probably damaging |
Het |
| Cluh |
G |
A |
11: 74,660,444 |
R373H |
probably damaging |
Het |
| Cyp2b23 |
G |
A |
7: 26,673,057 |
R378* |
probably null |
Het |
| Cyp2d9 |
T |
G |
15: 82,454,327 |
N136K |
probably null |
Het |
| Efcab5 |
A |
T |
11: 77,188,789 |
S44T |
possibly damaging |
Het |
| Esrrg |
A |
T |
1: 188,198,730 |
L316F |
possibly damaging |
Het |
| Fam222a |
T |
C |
5: 114,611,828 |
Y362H |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,998,709 |
V1999A |
probably damaging |
Het |
| Fes |
A |
T |
7: 80,387,183 |
M51K |
probably damaging |
Het |
| Fmo3 |
T |
A |
1: 162,954,426 |
K453* |
probably null |
Het |
| Galnt1 |
A |
G |
18: 24,280,017 |
N458S |
probably benign |
Het |
| Gm13083 |
A |
G |
4: 143,615,683 |
Q120R |
possibly damaging |
Het |
| Gm8888 |
T |
A |
15: 96,766,974 |
|
noncoding transcript |
Het |
| Gpn2 |
G |
A |
4: 133,584,879 |
|
probably null |
Het |
| Grm4 |
G |
A |
17: 27,438,411 |
T464I |
probably benign |
Het |
| Insr |
T |
A |
8: 3,155,764 |
K1342* |
probably null |
Het |
| Krt83 |
T |
A |
15: 101,487,121 |
K365* |
probably null |
Het |
| Lfng |
T |
C |
5: 140,613,263 |
L309P |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,547,788 |
|
probably benign |
Het |
| Lrrc8e |
A |
C |
8: 4,235,818 |
D681A |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,644,122 |
D1326N |
probably benign |
Het |
| Nags |
C |
T |
11: 102,145,947 |
Q121* |
probably null |
Het |
| Nectin1 |
A |
G |
9: 43,803,793 |
E442G |
probably benign |
Het |
| Nek1 |
G |
C |
8: 61,089,489 |
A729P |
probably benign |
Het |
| Olfr645 |
A |
G |
7: 104,084,237 |
I281T |
possibly damaging |
Het |
| Pnp2 |
C |
T |
14: 50,963,738 |
A189V |
probably benign |
Het |
| Ppm1m |
T |
A |
9: 106,197,939 |
I136F |
probably damaging |
Het |
| Psg17 |
G |
T |
7: 18,814,533 |
Q438K |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,496,930 |
R726* |
probably null |
Het |
| Rab3gap2 |
A |
T |
1: 185,235,487 |
Y163F |
probably benign |
Het |
| Scrib |
A |
T |
15: 76,062,863 |
L627Q |
possibly damaging |
Het |
| Tcp1 |
A |
G |
17: 12,924,334 |
K510R |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,454,889 |
I481N |
probably damaging |
Het |
| Tmem43 |
G |
T |
6: 91,478,210 |
R56L |
possibly damaging |
Het |
| Trmt10a |
T |
C |
3: 138,152,196 |
I168T |
possibly damaging |
Het |
| Trpv1 |
A |
T |
11: 73,245,983 |
Y96F |
probably benign |
Het |
| Tshz3 |
C |
T |
7: 36,770,350 |
T588I |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,411,843 |
F397L |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,047,166 |
S765P |
probably damaging |
Het |
| Zfp668 |
A |
G |
7: 127,867,146 |
F289L |
probably damaging |
Het |
| Zfp735 |
A |
G |
11: 73,710,814 |
T195A |
probably benign |
Het |
| Zscan10 |
A |
G |
17: 23,609,359 |
T182A |
possibly damaging |
Het |
|
| Other mutations in Mmp27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00544:Mmp27
|
APN |
9 |
7,573,504 (GRCm38) |
splice site |
probably benign |
|
|
IGL00656:Mmp27
|
APN |
9 |
7,581,382 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL00937:Mmp27
|
APN |
9 |
7,578,899 (GRCm38) |
critical splice acceptor site |
probably benign |
0.00 |
|
IGL01101:Mmp27
|
APN |
9 |
7,573,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01134:Mmp27
|
APN |
9 |
7,573,297 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01631:Mmp27
|
APN |
9 |
7,573,288 (GRCm38) |
critical splice acceptor site |
probably benign |
0.00 |
|
IGL02967:Mmp27
|
APN |
9 |
7,571,590 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03024:Mmp27
|
APN |
9 |
7,581,376 (GRCm38) |
missense |
probably benign |
0.17 |
|
R0662:Mmp27
|
UTSW |
9 |
7,577,650 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0715:Mmp27
|
UTSW |
9 |
7,581,155 (GRCm38) |
splice site |
probably benign |
|
|
R0826:Mmp27
|
UTSW |
9 |
7,579,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1191:Mmp27
|
UTSW |
9 |
7,579,066 (GRCm38) |
splice site |
probably null |
|
|
R1793:Mmp27
|
UTSW |
9 |
7,571,458 (GRCm38) |
start codon destroyed |
probably null |
0.00 |
|
R1983:Mmp27
|
UTSW |
9 |
7,578,897 (GRCm38) |
splice site |
probably null |
|
|
R2074:Mmp27
|
UTSW |
9 |
7,577,739 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R2172:Mmp27
|
UTSW |
9 |
7,577,378 (GRCm38) |
nonsense |
probably null |
|
|
R2445:Mmp27
|
UTSW |
9 |
7,581,181 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2961:Mmp27
|
UTSW |
9 |
7,573,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4825:Mmp27
|
UTSW |
9 |
7,581,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4888:Mmp27
|
UTSW |
9 |
7,581,368 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4938:Mmp27
|
UTSW |
9 |
7,578,982 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5095:Mmp27
|
UTSW |
9 |
7,579,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5095:Mmp27
|
UTSW |
9 |
7,572,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5121:Mmp27
|
UTSW |
9 |
7,581,368 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5446:Mmp27
|
UTSW |
9 |
7,573,515 (GRCm38) |
splice site |
probably benign |
|
|
R5485:Mmp27
|
UTSW |
9 |
7,573,362 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6682:Mmp27
|
UTSW |
9 |
7,573,605 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6712:Mmp27
|
UTSW |
9 |
7,572,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6737:Mmp27
|
UTSW |
9 |
7,571,954 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R7282:Mmp27
|
UTSW |
9 |
7,578,230 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7368:Mmp27
|
UTSW |
9 |
7,577,317 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7689:Mmp27
|
UTSW |
9 |
7,579,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8006:Mmp27
|
UTSW |
9 |
7,578,984 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8185:Mmp27
|
UTSW |
9 |
7,573,491 (GRCm38) |
missense |
unknown |
|
|
R8537:Mmp27
|
UTSW |
9 |
7,579,775 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9039:Mmp27
|
UTSW |
9 |
7,581,249 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9087:Mmp27
|
UTSW |
9 |
7,579,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9188:Mmp27
|
UTSW |
9 |
7,579,791 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R9280:Mmp27
|
UTSW |
9 |
7,579,811 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9367:Mmp27
|
UTSW |
9 |
7,573,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0021:Mmp27
|
UTSW |
9 |
7,573,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCCTTTCTCTGTCTAGATGAG -3'
(R):5'- TGGCTATGAGTCTGCCATTGAC -3'
Sequencing Primer
(F):5'- CTAGATGAGAATTTCTGGGTCATCAG -3'
(R):5'- CTATGAGTCTGCCATTGACAGTTTTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation