Mutagenetix > Incidental Mutation

Incidental Mutation 'R9280:Mmp27'

703565

Institutional Source

Beutler Lab

Gene Symbol

Mmp27

Ensembl Gene

ENSMUSG00000070323

Gene Name

matrix metallopeptidase 27

Synonyms

LOC234911

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R9280 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7571396-7581885 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7579811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 429 (I429L)

Ref Sequence

ENSEMBL: ENSMUSP00000113231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120900] [ENSMUST00000151853]

AlphaFold

D3YV89

Predicted Effect

probably benign
Transcript: ENSMUST00000120900
AA Change: I429L

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
AA Change: I429L

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

possibly damaging
Transcript: ENSMUST00000151853
AA Change: I455L

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: I455L

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

SMART Domains

Protein: ENSMUSP00000116263
Gene: ENSMUSG00000070323
AA Change: I373L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	C	6: 96,165,001	L354R	probably damaging	Het
Acrbp	G	T	6: 125,062,975	V514L	probably damaging	Het
Actl11	A	G	9: 107,931,374	I965M	probably damaging	Het
Ank3	A	T	10: 69,982,191	S1468C	possibly damaging	Het
Apobec3	A	C	15: 79,906,881	N392T		Het
Ccdc33	A	T	9: 58,058,266	M591K	probably benign	Het
Ccdc39	T	C	3: 33,816,004	E689G	probably damaging	Het
Cnot1	A	T	8: 95,770,599	M250K	probably benign	Het
Ctbs	A	T	3: 146,454,387	Y57F	probably damaging	Het
Dchs2	A	G	3: 83,281,948	I1540V	possibly damaging	Het
Dnah8	A	T	17: 30,785,097	Q3651H	possibly damaging	Het
Doxl2	A	G	6: 48,978,182	D652G	possibly damaging	Het
Eif2a	A	G	3: 58,539,588		probably benign	Het
Entpd2	A	G	2: 25,399,499	N331S	possibly damaging	Het
F830045P16Rik	G	A	2: 129,472,854	P168S	probably damaging	Het
Fam76b	A	T	9: 13,839,716	H302L	possibly damaging	Het
Fancm	A	G	12: 65,106,838	E1356G	probably benign	Het
Fat2	G	A	11: 55,310,697	T517I	probably benign	Het
Glul	T	C	1: 153,907,865	C269R	probably benign	Het
Gm3404	C	T	5: 146,525,946	H40Y	possibly damaging	Het
Gm6614	A	G	6: 141,994,252	L175P	possibly damaging	Het
Grb7	T	C	11: 98,454,422	F435S	probably damaging	Het
Ide	T	C	19: 37,330,402		probably benign	Het
Ide	A	T	19: 37,318,091	Y191N		Het
Ighv6-3	T	A	12: 114,391,800	T90S	probably damaging	Het
Il23r	A	G	6: 67,452,426	C311R	probably damaging	Het
Ilf2	A	G	3: 90,487,615	E390G	unknown	Het
Ints1	C	T	5: 139,764,714	C896Y	probably damaging	Het
Ipcef1	T	C	10: 6,900,736	E289G	probably benign	Het
Ispd	T	A	12: 36,521,976	S344R	probably benign	Het
Kbtbd2	G	A	6: 56,779,012	R580W	probably damaging	Het
Kif21b	T	C	1: 136,171,707		probably null	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mmp8	A	G	9: 7,567,291	D431G	possibly damaging	Het
Mpeg1	A	G	19: 12,462,464	T429A	probably benign	Het
Mterf1a	A	T	5: 3,891,539	Y110N	probably damaging	Het
Myh4	G	A	11: 67,255,309	A1398T	probably damaging	Het
Nr3c2	T	A	8: 76,909,344	M358K	probably benign	Het
Olfr1002	G	A	2: 85,648,160	R54*	probably null	Het
Olfr1162	A	T	2: 88,050,114	F170Y	probably damaging	Het
Olfr866	A	C	9: 20,027,343	S198R	probably benign	Het
Otof	A	G	5: 30,371,550	F1838S	probably damaging	Het
Pappa2	G	A	1: 158,847,963	T1071I	possibly damaging	Het
Pcdhb15	A	G	18: 37,474,741	D342G	probably damaging	Het
Pcdhgb7	T	C	18: 37,753,532	L585P	probably damaging	Het
Pde1c	A	T	6: 56,137,520	S469R	probably benign	Het
Pla2g6	A	G	15: 79,313,114	F87L	probably benign	Het
Rag2	A	T	2: 101,629,800	M152L	probably benign	Het
Rasa1	C	T	13: 85,288,613	A99T	unknown	Het
Rasgrp1	T	C	2: 117,282,651	N760S	probably benign	Het
Rgsl1	A	T	1: 153,794,152	M232K	probably benign	Het
Ryr1	G	A	7: 29,102,964	H744Y	probably damaging	Het
Slc1a4	A	G	11: 20,332,325	S50P	probably damaging	Het
Slc25a36	A	C	9: 97,100,180	L34R	probably damaging	Het
Slc39a12	A	T	2: 14,396,192	I127F	probably benign	Het
Sntb1	T	C	15: 55,906,375	T73A	probably benign	Het
Tbc1d14	T	C	5: 36,522,924		probably benign	Het
Tll2	T	A	19: 41,088,870	E819V	possibly damaging	Het
Trappc13	C	T	13: 104,154,301	A181T	probably benign	Het
Trbj1-1	A	G	6: 41,533,896	R11G		Het
Ubash3b	A	C	9: 41,161,581	I12S	unknown	Het
Usp37	T	C	1: 74,450,540	K828E	probably damaging	Het
Usp8	G	C	2: 126,720,024	S46T	unknown	Het
Zfp418	A	G	7: 7,181,409	T124A	possibly damaging	Het
Zfp72	T	C	13: 74,372,684	T92A	probably benign	Het

Other mutations in Mmp27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Mmp27	APN	9	7573504	splice site	probably benign
IGL00656:Mmp27	APN	9	7581382	missense	possibly damaging	0.80
IGL00937:Mmp27	APN	9	7578899	critical splice acceptor site	probably benign	0.00
IGL01101:Mmp27	APN	9	7573415	missense	probably damaging	1.00
IGL01134:Mmp27	APN	9	7573297	missense	probably benign	0.06
IGL01631:Mmp27	APN	9	7573288	critical splice acceptor site	probably benign	0.00
IGL02967:Mmp27	APN	9	7571590	missense	probably benign	0.03
IGL03024:Mmp27	APN	9	7581376	missense	probably benign	0.17
R0662:Mmp27	UTSW	9	7577650	missense	probably benign	0.00
R0715:Mmp27	UTSW	9	7581155	splice site	probably benign
R0826:Mmp27	UTSW	9	7579009	missense	probably damaging	1.00
R1191:Mmp27	UTSW	9	7579066	splice site	probably null
R1793:Mmp27	UTSW	9	7571458	start codon destroyed	probably null	0.00
R1983:Mmp27	UTSW	9	7578897	splice site	probably null
R2074:Mmp27	UTSW	9	7577739	missense	possibly damaging	0.50
R2172:Mmp27	UTSW	9	7577378	nonsense	probably null
R2445:Mmp27	UTSW	9	7581181	missense	probably benign	0.12
R2961:Mmp27	UTSW	9	7573602	missense	probably damaging	1.00
R4825:Mmp27	UTSW	9	7581194	missense	probably damaging	1.00
R4888:Mmp27	UTSW	9	7581368	missense	probably benign	0.00
R4938:Mmp27	UTSW	9	7578982	missense	probably damaging	0.97
R5095:Mmp27	UTSW	9	7572158	missense	probably damaging	1.00
R5095:Mmp27	UTSW	9	7579000	missense	probably damaging	1.00
R5121:Mmp27	UTSW	9	7581368	missense	probably benign	0.00
R5446:Mmp27	UTSW	9	7573515	splice site	probably benign
R5485:Mmp27	UTSW	9	7573362	missense	probably damaging	1.00
R5516:Mmp27	UTSW	9	7579062	missense	probably null	1.00
R6682:Mmp27	UTSW	9	7573605	missense	probably benign	0.02
R6712:Mmp27	UTSW	9	7572176	missense	probably damaging	1.00
R6737:Mmp27	UTSW	9	7571954	missense	possibly damaging	0.78
R7282:Mmp27	UTSW	9	7578230	missense	probably damaging	0.98
R7368:Mmp27	UTSW	9	7577317	missense	probably damaging	1.00
R7689:Mmp27	UTSW	9	7579001	missense	probably damaging	1.00
R8006:Mmp27	UTSW	9	7578984	missense	probably damaging	0.97
R8185:Mmp27	UTSW	9	7573491	missense	unknown
R8537:Mmp27	UTSW	9	7579775	missense	probably benign	0.00
R9039:Mmp27	UTSW	9	7581249	missense	probably benign	0.01
R9087:Mmp27	UTSW	9	7579857	missense	probably damaging	1.00
R9188:Mmp27	UTSW	9	7579791	missense	possibly damaging	0.55
R9367:Mmp27	UTSW	9	7573549	missense	probably damaging	1.00
X0021:Mmp27	UTSW	9	7573298	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTAGGTGTTTCTCTCTACCAGGC -3'
(R):5'- AGTCAGTTTAGCACTTGTTGGC -3'

Sequencing Primer
(F):5'- AGGCCTGCTCAGTTCCCATAATG -3'
(R):5'- ATGTCTACAGGGGTAATGCCTAC -3'

Posted On

2022-03-25