Incidental Mutation 'R9544:Mmp14'
| ID |
720022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp14
|
| Ensembl Gene |
ENSMUSG00000000957 |
| Gene Name |
matrix metallopeptidase 14 (membrane-inserted) |
| Synonyms |
sabe, Membrane type 1-MMP, MT1-MMP |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R9544 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
54669055-54679913 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54673251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 53
(H53R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089688]
[ENSMUST00000196155]
[ENSMUST00000197874]
[ENSMUST00000225641]
|
| AlphaFold |
P53690 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089688
AA Change: H53R
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000087119
Gene: ENSMUSG00000000957
AA Change: H53R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
36 |
88 |
2.1e-12 |
PFAM |
|
ZnMc
|
115 |
285 |
6.01e-58 |
SMART |
|
HX
|
323 |
366 |
3.97e-9 |
SMART |
|
HX
|
368 |
412 |
1.42e-10 |
SMART |
|
HX
|
415 |
461 |
4.45e-12 |
SMART |
|
HX
|
463 |
508 |
1.61e-9 |
SMART |
|
Pfam:DUF3377
|
512 |
582 |
2.2e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196155
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197874
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225641
AA Change: H53R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.7%
|
| 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 preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Mice lacking the encoded protein exhibit craniofacial dysmorphism, arthritis, osteopenia, dwarfism, and fibrosis of soft tissues. [provided by RefSeq, Feb 2016]
PHENOTYPE: Nullizygous mutations may lead to postnatal or premature death, craniofacial anomalies, skeletal dysplasia, low body weight, reduced bone formation and chondrocyte proliferation, arthritis, and fibrosis as well as defects in angiogenesis and lung, tooth,kidney, and submaxillary gland development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
A |
G |
6: 133,271,202 (GRCm39) |
E82G |
possibly damaging |
Het |
| Adra2a |
C |
G |
19: 54,035,454 (GRCm39) |
P270R |
probably benign |
Het |
| Alox12b |
A |
T |
11: 69,054,812 (GRCm39) |
I272F |
possibly damaging |
Het |
| Als2 |
C |
A |
1: 59,250,468 (GRCm39) |
E425D |
probably benign |
Het |
| Arhgap21 |
C |
A |
2: 20,858,938 (GRCm39) |
C1252F |
possibly damaging |
Het |
| Arhgap31 |
T |
G |
16: 38,423,976 (GRCm39) |
T697P |
probably damaging |
Het |
| Aspm |
C |
A |
1: 139,385,523 (GRCm39) |
T389K |
probably benign |
Het |
| B4galnt3 |
T |
A |
6: 120,209,905 (GRCm39) |
I73F |
probably damaging |
Het |
| Btn2a2 |
A |
G |
13: 23,672,008 (GRCm39) |
V27A |
probably benign |
Het |
| Cep97 |
A |
T |
16: 55,735,303 (GRCm39) |
N570K |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,036,266 (GRCm39) |
I751V |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,241,046 (GRCm39) |
C1516R |
probably damaging |
Het |
| Cul3 |
A |
G |
1: 80,258,576 (GRCm39) |
F487L |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,348,186 (GRCm39) |
S266P |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,732,830 (GRCm39) |
Y1118* |
probably null |
Het |
| Dolpp1 |
T |
A |
2: 30,282,515 (GRCm39) |
Y23N |
probably damaging |
Het |
| Egf |
T |
C |
3: 129,511,617 (GRCm39) |
M517V |
probably benign |
Het |
| Endou |
C |
A |
15: 97,609,969 (GRCm39) |
K442N |
probably damaging |
Het |
| Fam210b |
C |
T |
2: 172,194,633 (GRCm39) |
R162W |
probably damaging |
Het |
| Fbxw27 |
ATGT |
AT |
9: 109,602,322 (GRCm39) |
|
probably null |
Het |
| Flt3 |
T |
A |
5: 147,291,442 (GRCm39) |
Q641L |
possibly damaging |
Het |
| Ighv3-3 |
T |
A |
12: 114,160,270 (GRCm39) |
I47F |
probably damaging |
Het |
| Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Kcnq2 |
T |
G |
2: 180,729,407 (GRCm39) |
D532A |
probably damaging |
Het |
| Krtap11-1 |
A |
C |
16: 89,368,062 (GRCm39) |
|
probably benign |
Het |
| Lamp3 |
T |
A |
16: 19,494,832 (GRCm39) |
|
probably null |
Het |
| Lcn3 |
A |
T |
2: 25,656,151 (GRCm39) |
I69L |
probably benign |
Het |
| Lrrc43 |
A |
T |
5: 123,641,307 (GRCm39) |
H497L |
probably damaging |
Het |
| Luc7l2 |
T |
G |
6: 38,580,315 (GRCm39) |
S305A |
unknown |
Het |
| Malrd1 |
C |
T |
2: 15,640,809 (GRCm39) |
T513I |
unknown |
Het |
| Mllt3 |
T |
A |
4: 87,759,418 (GRCm39) |
D210V |
probably damaging |
Het |
| Ndst4 |
A |
C |
3: 125,476,808 (GRCm39) |
H11P |
probably damaging |
Het |
| Nln |
G |
A |
13: 104,198,356 (GRCm39) |
T152M |
probably benign |
Het |
| Oas1c |
A |
G |
5: 120,946,202 (GRCm39) |
F99L |
probably benign |
Het |
| Or10s1 |
T |
C |
9: 39,986,353 (GRCm39) |
L254P |
probably damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,637 (GRCm39) |
K227R |
probably benign |
Het |
| Or1j11 |
G |
T |
2: 36,311,784 (GRCm39) |
A125S |
probably damaging |
Het |
| Or5w15 |
G |
A |
2: 87,568,644 (GRCm39) |
T8I |
probably benign |
Het |
| Or7g25 |
T |
A |
9: 19,160,561 (GRCm39) |
I45F |
probably damaging |
Het |
| Pappa2 |
C |
A |
1: 158,784,817 (GRCm39) |
Q64H |
probably damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,948 (GRCm39) |
F727L |
probably benign |
Het |
| Pcsk1 |
A |
T |
13: 75,259,039 (GRCm39) |
N271I |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,410,239 (GRCm39) |
G2582D |
probably damaging |
Het |
| Psma4 |
A |
T |
9: 54,862,245 (GRCm39) |
Q123L |
probably damaging |
Het |
| Selenbp2 |
A |
T |
3: 94,605,368 (GRCm39) |
I127F |
possibly damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc29a3 |
G |
T |
10: 60,551,960 (GRCm39) |
C361* |
probably null |
Het |
| Slx4 |
C |
A |
16: 3,797,917 (GRCm39) |
R1489L |
probably damaging |
Het |
| Sorl1 |
A |
C |
9: 41,993,105 (GRCm39) |
Y306* |
probably null |
Het |
| Tbc1d16 |
G |
T |
11: 119,101,335 (GRCm39) |
H58Q |
probably damaging |
Het |
| Tfdp2 |
A |
G |
9: 96,169,663 (GRCm39) |
T5A |
probably damaging |
Het |
| Thbs1 |
G |
T |
2: 117,953,932 (GRCm39) |
G1061V |
probably damaging |
Het |
| Timm29 |
G |
A |
9: 21,504,662 (GRCm39) |
R110H |
probably damaging |
Het |
| Tmf1 |
C |
T |
6: 97,147,293 (GRCm39) |
E558K |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,972,713 (GRCm39) |
T287A |
possibly damaging |
Het |
| Unc119b |
G |
A |
5: 115,272,827 (GRCm39) |
T48M |
probably benign |
Het |
| Vmn1r123 |
T |
C |
7: 20,896,987 (GRCm39) |
I293T |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,786,317 (GRCm39) |
H563Y |
possibly damaging |
Het |
| Vps8 |
G |
T |
16: 21,336,893 (GRCm39) |
V763L |
probably benign |
Het |
| Wdr3 |
A |
T |
3: 100,050,752 (GRCm39) |
Y722* |
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,920,756 (GRCm39) |
T1339A |
probably benign |
Het |
| Zfp827 |
T |
A |
8: 79,905,604 (GRCm39) |
H860Q |
probably damaging |
Het |
|
| Other mutations in Mmp14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01317:Mmp14
|
APN |
14 |
54,673,247 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01937:Mmp14
|
APN |
14 |
54,675,053 (GRCm39) |
splice site |
probably benign |
|
|
IGL02565:Mmp14
|
APN |
14 |
54,678,014 (GRCm39) |
missense |
probably benign |
0.02 |
|
Buffo
|
UTSW |
14 |
54,675,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
cartoon
|
UTSW |
14 |
54,677,456 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Cartoonish
|
UTSW |
14 |
54,674,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mumping
|
UTSW |
14 |
54,676,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03134:Mmp14
|
UTSW |
14 |
54,676,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Mmp14
|
UTSW |
14 |
54,676,109 (GRCm39) |
splice site |
probably benign |
|
|
R0053:Mmp14
|
UTSW |
14 |
54,676,109 (GRCm39) |
splice site |
probably benign |
|
|
R0538:Mmp14
|
UTSW |
14 |
54,676,166 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0612:Mmp14
|
UTSW |
14 |
54,677,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2352:Mmp14
|
UTSW |
14 |
54,678,002 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3700:Mmp14
|
UTSW |
14 |
54,669,389 (GRCm39) |
unclassified |
probably benign |
|
|
R4289:Mmp14
|
UTSW |
14 |
54,673,665 (GRCm39) |
nonsense |
probably null |
|
|
R4888:Mmp14
|
UTSW |
14 |
54,673,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5068:Mmp14
|
UTSW |
14 |
54,676,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Mmp14
|
UTSW |
14 |
54,676,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Mmp14
|
UTSW |
14 |
54,676,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5216:Mmp14
|
UTSW |
14 |
54,675,120 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5607:Mmp14
|
UTSW |
14 |
54,676,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Mmp14
|
UTSW |
14 |
54,673,347 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6477:Mmp14
|
UTSW |
14 |
54,675,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Mmp14
|
UTSW |
14 |
54,673,708 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7212:Mmp14
|
UTSW |
14 |
54,673,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Mmp14
|
UTSW |
14 |
54,675,199 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7957:Mmp14
|
UTSW |
14 |
54,673,707 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8263:Mmp14
|
UTSW |
14 |
54,673,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8409:Mmp14
|
UTSW |
14 |
54,678,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8785:Mmp14
|
UTSW |
14 |
54,674,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9021:Mmp14
|
UTSW |
14 |
54,673,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9325:Mmp14
|
UTSW |
14 |
54,676,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9367:Mmp14
|
UTSW |
14 |
54,677,960 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9425:Mmp14
|
UTSW |
14 |
54,677,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9583:Mmp14
|
UTSW |
14 |
54,678,069 (GRCm39) |
missense |
probably benign |
0.24 |
|
RF003:Mmp14
|
UTSW |
14 |
54,676,471 (GRCm39) |
nonsense |
probably null |
|
|
X0064:Mmp14
|
UTSW |
14 |
54,669,403 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGACTAAGAGGCCGTC -3'
(R):5'- AGTGCTGTAGTTGACCCAGG -3'
Sequencing Primer
(F):5'- CTAAGAGGCCGTCATAGTCACTG -3'
(R):5'- CTCTGGTCCCAGGTCAGTGATG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation