Mutagenetix > Incidental Mutation

Incidental Mutation 'R9039:Mmp27'

687615

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: 0.059) question?

Stock #

R9039 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7571397-7581886 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 7581250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 478 (F478L)

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: F478L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113231
Gene: ENSMUSG00000070323
AA Change: F478L

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 benign
Transcript: ENSMUST00000151853
AA Change: F504L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000117469
Gene: ENSMUSG00000070323
AA Change: F504L

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: F422L

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,213,849 (GRCm39)	V692A	possibly damaging	Het
Aco2	C	G	15: 81,756,620 (GRCm39)		probably benign	Het
Adcy10	T	C	1: 165,345,914 (GRCm39)	I321T	probably damaging	Het
Agbl2	C	T	2: 90,645,730 (GRCm39)	T821I	probably benign	Het
Alpk1	A	G	3: 127,473,192 (GRCm39)	L937P	probably damaging	Het
Atp5f1b	A	G	10: 127,919,767 (GRCm39)	D45G	probably benign	Het
C8a	C	T	4: 104,679,200 (GRCm39)	R530H	probably benign	Het
Cacna1s	T	C	1: 136,016,057 (GRCm39)	S694P	probably benign	Het
Cdca7	T	A	2: 72,312,856 (GRCm39)	D162E	probably benign	Het
Cep78	G	T	19: 15,936,907 (GRCm39)	Q600K	probably benign	Het
Cert1	C	T	13: 96,679,717 (GRCm39)	P16S	probably benign	Het
Coq8b	A	C	7: 26,950,011 (GRCm39)	R363S	probably benign	Het
Cpne3	A	T	4: 19,540,770 (GRCm39)	C202S	probably damaging	Het
Csmd3	G	T	15: 47,483,308 (GRCm39)		probably benign	Het
Cyp4a14	A	T	4: 115,344,461 (GRCm39)	V468E	probably damaging	Het
Dchs1	A	T	7: 105,405,215 (GRCm39)	D2442E	probably benign	Het
Dip2a	T	C	10: 76,163,553 (GRCm39)	Y49C	probably benign	Het
Dop1a	A	G	9: 86,382,870 (GRCm39)	R268G	probably damaging	Het
Eid3	C	T	10: 82,703,565 (GRCm39)	S342L	possibly damaging	Het
Ezh2	A	G	6: 47,528,671 (GRCm39)	L296P	possibly damaging	Het
Fgfrl1	G	C	5: 108,853,439 (GRCm39)		probably null	Het
Flg2	A	G	3: 93,110,899 (GRCm39)	R976G	unknown	Het
Fsip2	C	A	2: 82,828,545 (GRCm39)	Q6781K	probably benign	Het
Golga3	C	T	5: 110,352,799 (GRCm39)	H857Y	probably benign	Het
Hmcn2	T	A	2: 31,244,646 (GRCm39)	V701E	probably damaging	Het
Il21	A	T	3: 37,286,602 (GRCm39)	I38N	probably benign	Het
Ip6k2	G	T	9: 108,681,807 (GRCm39)	G246V	probably damaging	Het
Ipo13	T	C	4: 117,758,185 (GRCm39)	Q726R	probably damaging	Het
Itsn1	A	T	16: 91,703,658 (GRCm39)	N1521Y	unknown	Het
Kif2b	A	G	11: 91,467,131 (GRCm39)	V384A	possibly damaging	Het
L3mbtl1	G	T	2: 162,807,988 (GRCm39)	R541L	probably damaging	Het
Lama3	T	A	18: 12,614,120 (GRCm39)	C1296*	probably null	Het
Lars1	T	C	18: 42,390,234 (GRCm39)	D11G	probably damaging	Het
Ly6c1	C	A	15: 74,917,300 (GRCm39)	G116V	probably damaging	Het
Moxd1	T	A	10: 24,155,251 (GRCm39)		probably benign	Het
Naaa	T	A	5: 92,420,300 (GRCm39)		probably benign	Het
Nav1	T	A	1: 135,371,487 (GRCm39)	Q1746L	unknown	Het
Nedd9	T	C	13: 41,471,984 (GRCm39)	Y165C	probably damaging	Het
Neurod1	T	C	2: 79,284,720 (GRCm39)	Y221C	probably damaging	Het
Or2q1	A	T	6: 42,794,545 (GRCm39)	I47F	probably damaging	Het
Or4c122	G	T	2: 89,079,545 (GRCm39)	F152L	probably benign	Het
Or5al6	T	C	2: 85,976,625 (GRCm39)	Y151C	probably damaging	Het
Or9m1	T	C	2: 87,733,907 (GRCm39)	T38A	probably damaging	Het
Orm3	A	G	4: 63,274,533 (GRCm39)	N33D	possibly damaging	Het
Ppp1r3a	G	A	6: 14,754,525 (GRCm39)	P241S	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,657 (GRCm39)	T949A	probably benign	Het
Prdx6	A	T	1: 161,078,619 (GRCm39)	I23N	probably damaging	Het
Prkd3	A	T	17: 79,280,003 (GRCm39)	V334E	probably benign	Het
Prr12	A	T	7: 44,684,146 (GRCm39)	D1631E	probably damaging	Het
Ptpn22	A	G	3: 103,819,551 (GRCm39)		probably benign	Het
Pum2	T	G	12: 8,794,430 (GRCm39)	D773E	probably damaging	Het
Sidt2	A	G	9: 45,856,648 (GRCm39)	C451R	probably benign	Het
Slc37a2	A	G	9: 37,148,658 (GRCm39)	S275P	probably benign	Het
Slmap	G	T	14: 26,254,519 (GRCm39)	N54K	probably benign	Het
Susd4	A	G	1: 182,681,597 (GRCm39)	D146G	probably benign	Het
Tekt3	G	A	11: 62,972,169 (GRCm39)	R275H	possibly damaging	Het
Tkfc	A	G	19: 10,573,612 (GRCm39)	L242P	probably damaging	Het
Tm9sf2	T	A	14: 122,363,576 (GRCm39)	L99I	probably benign	Het
Triqk	A	T	4: 12,980,490 (GRCm39)	D78V	probably damaging	Het
Trmo	T	C	4: 46,382,322 (GRCm39)	D258G	probably benign	Het
Tsc2	A	G	17: 24,826,489 (GRCm39)	V920A	probably benign	Het
Tspan17	C	T	13: 54,943,991 (GRCm39)	Q257*	probably null	Het
Tube1	T	A	10: 39,011,017 (GRCm39)	F45I	probably damaging	Het
Vmn1r4	A	G	6: 56,933,822 (GRCm39)	T109A	possibly damaging	Het
Vmn2r14	A	T	5: 109,367,902 (GRCm39)	Y363*	probably null	Het
Zfp324	G	T	7: 12,705,455 (GRCm39)	G548V	probably benign	Het
Zpld2	C	A	4: 133,922,858 (GRCm39)	V492F	probably damaging	Het

Other mutations in Mmp27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00544:Mmp27	APN	9	7,573,505 (GRCm39)	splice site	probably benign
IGL00656:Mmp27	APN	9	7,581,383 (GRCm39)	missense	possibly damaging	0.80
IGL00937:Mmp27	APN	9	7,578,900 (GRCm39)	critical splice acceptor site	probably benign	0.00
IGL01101:Mmp27	APN	9	7,573,416 (GRCm39)	missense	probably damaging	1.00
IGL01134:Mmp27	APN	9	7,573,298 (GRCm39)	missense	probably benign	0.06
IGL01631:Mmp27	APN	9	7,573,289 (GRCm39)	critical splice acceptor site	probably benign	0.00
IGL02967:Mmp27	APN	9	7,571,591 (GRCm39)	missense	probably benign	0.03
IGL03024:Mmp27	APN	9	7,581,377 (GRCm39)	missense	probably benign	0.17
R0662:Mmp27	UTSW	9	7,577,651 (GRCm39)	missense	probably benign	0.00
R0715:Mmp27	UTSW	9	7,581,156 (GRCm39)	splice site	probably benign
R0826:Mmp27	UTSW	9	7,579,010 (GRCm39)	missense	probably damaging	1.00
R1191:Mmp27	UTSW	9	7,579,067 (GRCm39)	splice site	probably null
R1793:Mmp27	UTSW	9	7,571,459 (GRCm39)	start codon destroyed	probably null	0.00
R1983:Mmp27	UTSW	9	7,578,898 (GRCm39)	splice site	probably null
R2074:Mmp27	UTSW	9	7,577,740 (GRCm39)	missense	possibly damaging	0.50
R2172:Mmp27	UTSW	9	7,577,379 (GRCm39)	nonsense	probably null
R2445:Mmp27	UTSW	9	7,581,182 (GRCm39)	missense	probably benign	0.12
R2961:Mmp27	UTSW	9	7,573,603 (GRCm39)	missense	probably damaging	1.00
R4825:Mmp27	UTSW	9	7,581,195 (GRCm39)	missense	probably damaging	1.00
R4888:Mmp27	UTSW	9	7,581,369 (GRCm39)	missense	probably benign	0.00
R4938:Mmp27	UTSW	9	7,578,983 (GRCm39)	missense	probably damaging	0.97
R5095:Mmp27	UTSW	9	7,579,001 (GRCm39)	missense	probably damaging	1.00
R5095:Mmp27	UTSW	9	7,572,159 (GRCm39)	missense	probably damaging	1.00
R5121:Mmp27	UTSW	9	7,581,369 (GRCm39)	missense	probably benign	0.00
R5446:Mmp27	UTSW	9	7,573,516 (GRCm39)	splice site	probably benign
R5485:Mmp27	UTSW	9	7,573,363 (GRCm39)	missense	probably damaging	1.00
R5516:Mmp27	UTSW	9	7,579,063 (GRCm39)	missense	probably null	1.00
R6682:Mmp27	UTSW	9	7,573,606 (GRCm39)	missense	probably benign	0.02
R6712:Mmp27	UTSW	9	7,572,177 (GRCm39)	missense	probably damaging	1.00
R6737:Mmp27	UTSW	9	7,571,955 (GRCm39)	missense	possibly damaging	0.78
R7282:Mmp27	UTSW	9	7,578,231 (GRCm39)	missense	probably damaging	0.98
R7368:Mmp27	UTSW	9	7,577,318 (GRCm39)	missense	probably damaging	1.00
R7689:Mmp27	UTSW	9	7,579,002 (GRCm39)	missense	probably damaging	1.00
R8006:Mmp27	UTSW	9	7,578,985 (GRCm39)	missense	probably damaging	0.97
R8185:Mmp27	UTSW	9	7,573,492 (GRCm39)	missense	unknown
R8537:Mmp27	UTSW	9	7,579,776 (GRCm39)	missense	probably benign	0.00
R9087:Mmp27	UTSW	9	7,579,858 (GRCm39)	missense	probably damaging	1.00
R9188:Mmp27	UTSW	9	7,579,792 (GRCm39)	missense	possibly damaging	0.55
R9280:Mmp27	UTSW	9	7,579,812 (GRCm39)	missense	probably benign	0.09
R9367:Mmp27	UTSW	9	7,573,550 (GRCm39)	missense	probably damaging	1.00
X0021:Mmp27	UTSW	9	7,573,299 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGATGAAAGCAAACTACATCTTTG -3'
(R):5'- TCTTCCTGAGGCAGAGTTCAGG -3'

Sequencing Primer
(F):5'- AGGGGAGAAGTTTGCACT -3'
(R):5'- TCCTGAGGCAGAGTTCAGGTTAAAAG -3'

Posted On

2021-11-19