Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Mmp1b'

476943

Institutional Source

Beutler Lab

Gene Symbol

Mmp1b

Ensembl Gene

ENSMUSG00000041620

Gene Name

matrix metallopeptidase 1b (interstitial collagenase)

Synonyms

Mcol-B

MMRRC Submission

040458-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R2870 (G1)

Quality Score

101

Status

Not validated

Chromosome

Chromosomal Location

7368239-7388047 bp(-) (GRCm39)

Type of Mutation

synonymous

DNA Base Change (assembly)

A to T at 7386875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047888] [ENSMUST00000047888]

AlphaFold

no structure available at present

Predicted Effect

silent
Transcript: ENSMUST00000047888

SMART Domains

Protein: ENSMUSP00000047261
Gene: ENSMUSG00000041620

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:PG_binding_1	26	84	1.4e-13	PFAM
ZnMc	102	260	3.08e-46	SMART
HX	281	323	4.39e-2	SMART
HX	325	369	3.51e-10	SMART
HX	374	421	1.03e-16	SMART
HX	423	463	1.6e0	SMART

Predicted Effect

silent
Transcript: ENSMUST00000047888

SMART Domains

Protein: ENSMUSP00000047261
Gene: ENSMUSG00000041620

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:PG_binding_1	26	84	1.4e-13	PFAM
ZnMc	102	260	3.08e-46	SMART
HX	281	323	4.39e-2	SMART
HX	325	369	3.51e-10	SMART
HX	374	421	1.03e-16	SMART
HX	423	463	1.6e0	SMART

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 94.1%
20x: 79.0%

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. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	G	3: 30,653,847 (GRCm39)	V51A	probably damaging	Het
Adgb	C	T	10: 10,307,025 (GRCm39)		probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,665,682 (GRCm39)	R306H	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Cacna2d1	G	A	5: 16,517,566 (GRCm39)	C404Y	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Csmd3	C	T	15: 47,721,320 (GRCm39)	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,191,735 (GRCm39)	S217L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Dmp1	A	G	5: 104,359,974 (GRCm39)	S217G	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eral1	A	G	11: 77,967,104 (GRCm39)	I164T	possibly damaging	Het
Esr1	G	A	10: 4,947,890 (GRCm39)	R481H	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614 (GRCm39)	N334I	probably damaging	Het
Grm5	T	C	7: 87,251,930 (GRCm39)	V60A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ino80d	C	T	1: 63,100,198 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Krt31	T	G	11: 99,938,699 (GRCm39)	N298T	possibly damaging	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Mylk2	A	G	2: 152,761,268 (GRCm39)	K457R	probably damaging	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Or8k33	T	C	2: 86,383,928 (GRCm39)	D180G	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,833 (GRCm39)	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Retnla	A	G	16: 48,663,975 (GRCm39)	R90G	probably benign	Het
Semp2l2b	A	T	10: 21,943,278 (GRCm39)	I234N	probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Spcs2	T	C	7: 99,488,968 (GRCm39)	D240G	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Thbs1	C	G	2: 117,949,859 (GRCm39)	N611K	probably damaging	Het
Tipin	A	C	9: 64,211,609 (GRCm39)	S232R	probably benign	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het

Other mutations in Mmp1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Mmp1b	APN	9	7,387,946 (GRCm39)	missense	probably benign	0.00
IGL00339:Mmp1b	APN	9	7,368,304 (GRCm39)	missense	probably benign	0.19
IGL00832:Mmp1b	APN	9	7,387,023 (GRCm39)	missense	possibly damaging	0.81
IGL01110:Mmp1b	APN	9	7,384,921 (GRCm39)	missense	probably benign	0.02
IGL02121:Mmp1b	APN	9	7,384,935 (GRCm39)	missense	probably benign	0.22
IGL02143:Mmp1b	APN	9	7,386,400 (GRCm39)	missense	probably benign	0.10
IGL02698:Mmp1b	APN	9	7,384,877 (GRCm39)	missense	probably damaging	1.00
IGL02928:Mmp1b	APN	9	7,368,242 (GRCm39)	makesense	probably null
IGL03218:Mmp1b	APN	9	7,387,907 (GRCm39)	missense	probably benign	0.07
IGL03304:Mmp1b	APN	9	7,384,701 (GRCm39)	missense	probably damaging	1.00
IGL02802:Mmp1b	UTSW	9	7,384,709 (GRCm39)	missense	probably benign	0.08
R0122:Mmp1b	UTSW	9	7,386,689 (GRCm39)	missense	probably damaging	0.99
R0506:Mmp1b	UTSW	9	7,387,013 (GRCm39)	missense	possibly damaging	0.52
R0600:Mmp1b	UTSW	9	7,387,947 (GRCm39)	missense	possibly damaging	0.55
R1454:Mmp1b	UTSW	9	7,386,693 (GRCm39)	missense	probably damaging	1.00
R1466:Mmp1b	UTSW	9	7,384,779 (GRCm39)	splice site	probably benign
R1696:Mmp1b	UTSW	9	7,386,699 (GRCm39)	missense	probably damaging	0.99
R1837:Mmp1b	UTSW	9	7,386,409 (GRCm39)	missense	probably damaging	1.00
R1986:Mmp1b	UTSW	9	7,368,577 (GRCm39)	missense	probably benign	0.01
R2031:Mmp1b	UTSW	9	7,368,607 (GRCm39)	missense	possibly damaging	0.68
R2098:Mmp1b	UTSW	9	7,386,984 (GRCm39)	missense	probably benign	0.03
R2107:Mmp1b	UTSW	9	7,369,310 (GRCm39)	missense	probably damaging	1.00
R2847:Mmp1b	UTSW	9	7,370,763 (GRCm39)	missense	probably benign	0.05
R3944:Mmp1b	UTSW	9	7,384,708 (GRCm39)	missense	possibly damaging	0.73
R4654:Mmp1b	UTSW	9	7,370,849 (GRCm39)	missense	probably benign	0.18
R4829:Mmp1b	UTSW	9	7,370,729 (GRCm39)	critical splice donor site	probably null
R5329:Mmp1b	UTSW	9	7,384,897 (GRCm39)	missense	possibly damaging	0.61
R5332:Mmp1b	UTSW	9	7,384,897 (GRCm39)	missense	possibly damaging	0.61
R5333:Mmp1b	UTSW	9	7,384,897 (GRCm39)	missense	possibly damaging	0.61
R5418:Mmp1b	UTSW	9	7,384,897 (GRCm39)	missense	possibly damaging	0.61
R5419:Mmp1b	UTSW	9	7,384,897 (GRCm39)	missense	possibly damaging	0.61
R5420:Mmp1b	UTSW	9	7,384,897 (GRCm39)	missense	possibly damaging	0.61
R6053:Mmp1b	UTSW	9	7,385,031 (GRCm39)	missense	probably benign	0.07
R6394:Mmp1b	UTSW	9	7,386,316 (GRCm39)	missense	probably benign	0.20
R6774:Mmp1b	UTSW	9	7,387,914 (GRCm39)	missense	probably benign	0.00
R6842:Mmp1b	UTSW	9	7,384,888 (GRCm39)	missense	probably damaging	1.00
R7092:Mmp1b	UTSW	9	7,386,981 (GRCm39)	missense	probably damaging	1.00
R7146:Mmp1b	UTSW	9	7,385,014 (GRCm39)	missense	probably damaging	1.00
R7549:Mmp1b	UTSW	9	7,384,753 (GRCm39)	missense	probably benign	0.21
R7658:Mmp1b	UTSW	9	7,386,675 (GRCm39)	missense	possibly damaging	0.59
R8952:Mmp1b	UTSW	9	7,386,346 (GRCm39)	missense	possibly damaging	0.81
R9036:Mmp1b	UTSW	9	7,387,909 (GRCm39)	missense	probably null	0.25
R9349:Mmp1b	UTSW	9	7,369,271 (GRCm39)	missense	probably benign	0.01
Z1177:Mmp1b	UTSW	9	7,369,322 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

Posted On

2017-05-15