Incidental Mutation 'R5231:Mmp10'
| ID |
398526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp10
|
| Ensembl Gene |
ENSMUSG00000047562 |
| Gene Name |
matrix metallopeptidase 10 |
| Synonyms |
stromelysin 2 |
| MMRRC Submission |
042803-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.192)
|
| Stock # |
R5231 (G1)
|
| Quality Score |
182 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7502353-7510241 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 7502501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034488]
|
| AlphaFold |
O55123 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034488
|
| SMART Domains |
Protein: ENSMUSP00000034488
Gene: ENSMUSG00000047562
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
27 |
87 |
3.2e-12 |
PFAM |
|
ZnMc
|
105 |
265 |
1.81e-61 |
SMART |
|
HX
|
295 |
337 |
2.03e-6 |
SMART |
|
HX
|
339 |
382 |
9.11e-9 |
SMART |
|
HX
|
387 |
434 |
8.49e-18 |
SMART |
|
HX
|
436 |
476 |
3.88e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| 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. The lack of encoded protein in mice promotes experimental lung cancer formation, exacerbates experimental colitis and promotes development of inflammation-associated colonic dysplasia. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
T |
C |
10: 80,442,260 (GRCm39) |
S33P |
possibly damaging |
Het |
| Bche |
G |
A |
3: 73,608,194 (GRCm39) |
P411S |
probably benign |
Het |
| Chil3 |
A |
G |
3: 106,063,045 (GRCm39) |
S182P |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,902,730 (GRCm39) |
E1653G |
probably damaging |
Het |
| Csk |
G |
T |
9: 57,537,661 (GRCm39) |
H84Q |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,439,842 (GRCm39) |
T3099A |
probably benign |
Het |
| Deup1 |
G |
T |
9: 15,486,495 (GRCm39) |
A395E |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,429,716 (GRCm39) |
Y2778C |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,894,474 (GRCm39) |
T2031A |
probably benign |
Het |
| Ighv1-53 |
C |
A |
12: 115,122,225 (GRCm39) |
S50I |
probably benign |
Het |
| Ighv1-62-3 |
A |
T |
12: 115,424,671 (GRCm39) |
M100K |
possibly damaging |
Het |
| Igkv2-109 |
T |
A |
6: 68,279,429 (GRCm39) |
F3I |
probably benign |
Het |
| Isl1 |
T |
C |
13: 116,438,193 (GRCm39) |
D296G |
probably benign |
Het |
| Klk1b16 |
T |
A |
7: 43,786,771 (GRCm39) |
L10Q |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,471 (GRCm39) |
S1880T |
possibly damaging |
Het |
| Lhcgr |
T |
A |
17: 89,063,039 (GRCm39) |
N211I |
probably damaging |
Het |
| Ltb |
C |
T |
17: 35,414,802 (GRCm39) |
L201F |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,853,094 (GRCm39) |
F64S |
possibly damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,583,650 (GRCm39) |
|
probably null |
Het |
| Or1e34 |
C |
A |
11: 73,778,781 (GRCm39) |
C139F |
probably damaging |
Het |
| Or52e2 |
A |
T |
7: 102,804,175 (GRCm39) |
F260I |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,077 (GRCm39) |
I286V |
possibly damaging |
Het |
| Or9i14 |
A |
T |
19: 13,792,711 (GRCm39) |
I81N |
probably damaging |
Het |
| Peg10 |
C |
T |
6: 4,756,939 (GRCm39) |
|
probably benign |
Het |
| Plscr1 |
C |
A |
9: 92,148,784 (GRCm39) |
P208H |
probably damaging |
Het |
| Rhot1 |
T |
C |
11: 80,118,160 (GRCm39) |
|
probably null |
Het |
| Rpl15-ps6 |
T |
C |
15: 52,341,440 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcc2 |
T |
C |
10: 128,297,221 (GRCm39) |
Y38H |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,723,032 (GRCm39) |
H716L |
possibly damaging |
Het |
| Stat2 |
T |
C |
10: 128,117,111 (GRCm39) |
|
probably null |
Het |
| Trip11 |
T |
C |
12: 101,851,860 (GRCm39) |
K735E |
probably damaging |
Het |
| Ttll1 |
T |
A |
15: 83,373,667 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
C |
A |
7: 9,209,594 (GRCm39) |
L639F |
possibly damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,786,448 (GRCm39) |
Q417L |
possibly damaging |
Het |
| Vps8 |
A |
T |
16: 21,395,475 (GRCm39) |
D1255V |
probably damaging |
Het |
| Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
| Zfp747l1 |
T |
C |
7: 126,984,586 (GRCm39) |
Y172C |
probably damaging |
Het |
|
| Other mutations in Mmp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Mmp10
|
APN |
9 |
7,505,651 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Disco
|
UTSW |
9 |
7,504,170 (GRCm39) |
nonsense |
probably null |
|
|
steel
|
UTSW |
9 |
7,506,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
Strobe
|
UTSW |
9 |
7,508,199 (GRCm39) |
missense |
probably benign |
|
|
R0240:Mmp10
|
UTSW |
9 |
7,506,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Mmp10
|
UTSW |
9 |
7,506,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0503:Mmp10
|
UTSW |
9 |
7,507,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Mmp10
|
UTSW |
9 |
7,508,199 (GRCm39) |
missense |
probably benign |
|
|
R1222:Mmp10
|
UTSW |
9 |
7,505,682 (GRCm39) |
splice site |
probably benign |
|
|
R1487:Mmp10
|
UTSW |
9 |
7,509,978 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1622:Mmp10
|
UTSW |
9 |
7,504,996 (GRCm39) |
nonsense |
probably null |
|
|
R1669:Mmp10
|
UTSW |
9 |
7,505,526 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1806:Mmp10
|
UTSW |
9 |
7,506,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1880:Mmp10
|
UTSW |
9 |
7,505,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4749:Mmp10
|
UTSW |
9 |
7,508,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Mmp10
|
UTSW |
9 |
7,508,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5367:Mmp10
|
UTSW |
9 |
7,505,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5814:Mmp10
|
UTSW |
9 |
7,503,621 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6131:Mmp10
|
UTSW |
9 |
7,503,633 (GRCm39) |
splice site |
probably null |
|
|
R6542:Mmp10
|
UTSW |
9 |
7,506,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6997:Mmp10
|
UTSW |
9 |
7,503,531 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7400:Mmp10
|
UTSW |
9 |
7,503,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Mmp10
|
UTSW |
9 |
7,508,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Mmp10
|
UTSW |
9 |
7,503,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7676:Mmp10
|
UTSW |
9 |
7,503,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7830:Mmp10
|
UTSW |
9 |
7,507,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7967:Mmp10
|
UTSW |
9 |
7,504,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Mmp10
|
UTSW |
9 |
7,508,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Mmp10
|
UTSW |
9 |
7,508,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8728:Mmp10
|
UTSW |
9 |
7,502,480 (GRCm39) |
missense |
probably benign |
|
|
R8788:Mmp10
|
UTSW |
9 |
7,502,687 (GRCm39) |
intron |
probably benign |
|
|
R9023:Mmp10
|
UTSW |
9 |
7,504,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9386:Mmp10
|
UTSW |
9 |
7,503,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9388:Mmp10
|
UTSW |
9 |
7,504,170 (GRCm39) |
nonsense |
probably null |
|
|
R9414:Mmp10
|
UTSW |
9 |
7,502,489 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1176:Mmp10
|
UTSW |
9 |
7,508,206 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCCCTATAAAAGAGTGGCC -3'
(R):5'- ACTTCGGCTGCTGTCATTG -3'
Sequencing Primer
(F):5'- TCCCTATAAAAGAGTGGCCACTAAAG -3'
(R):5'- ATTTACCCCCAGTAACTGCG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation