Mutagenetix > Incidental Mutations

Incidental Mutation 'R5419:Mmp1b'

427928

Institutional Source

Beutler Lab

Gene Symbol

Mmp1b

Ensembl Gene

ENSMUSG00000041620

Gene Name

matrix metallopeptidase 1b (interstitial collagenase)

Synonyms

Mcol-B

MMRRC Submission

042987-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R5419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7368239-7388047 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7384897 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 251 (I251V)

Ref Sequence

ENSEMBL: ENSMUSP00000047261 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047888
AA Change: I251V

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000047261
Gene: ENSMUSG00000041620
AA Change: I251V

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

Meta Mutation Damage Score

0.0816

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,272,090	L926*	probably null	Het
4931429L15Rik	C	T	9: 46,309,326		probably null	Het
Abca13	T	A	11: 9,193,533		probably null	Het
AI481877	A	T	4: 59,049,017	M1116K	probably benign	Het
Akap13	A	T	7: 75,610,243	T69S	probably benign	Het
Arl1	T	A	10: 88,737,104	C80S	probably damaging	Het
Brsk1	A	G	7: 4,709,004	T618A	possibly damaging	Het
Cep295	T	C	9: 15,324,237	H1982R	probably damaging	Het
Ces5a	A	T	8: 93,499,431	S559T	unknown	Het
Clcf1	A	G	19: 4,222,159	N90S	possibly damaging	Het
Clec16a	G	A	16: 10,731,679	C872Y	probably damaging	Het
Cobll1	A	T	2: 65,103,357	D430E	possibly damaging	Het
Cyp1a2	T	A	9: 57,682,511	I7F	probably benign	Het
Cyp2b23	G	A	7: 26,681,423	R126*	probably null	Het
Daam2	A	G	17: 49,480,754	W444R	possibly damaging	Het
Dcbld2	T	A	16: 58,455,258	C446S	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Eif2d	T	C	1: 131,158,298	*177R	probably null	Het
Fkbp15	G	A	4: 62,327,877	A438V	probably damaging	Het
Gjb5	G	A	4: 127,355,859	A164V	probably benign	Het
Gm17727	T	A	9: 35,778,111		probably null	Het
Gm5724	C	T	6: 141,736,100		probably null	Het
Grin1	A	T	2: 25,298,273		probably null	Het
Grm3	A	G	5: 9,570,233	F337S	probably damaging	Het
Hey2	T	A	10: 30,834,023	T245S	probably benign	Het
Ifi206	T	C	1: 173,481,231	T400A	probably benign	Het
Itga7	G	A	10: 128,944,033	E480K	probably null	Het
Itpr1	T	C	6: 108,493,794	Y2227H	possibly damaging	Het
Krt8	T	C	15: 102,003,902	D113G	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lins1	A	G	7: 66,708,095		probably benign	Het
Lmf1	A	T	17: 25,662,636	D553V	possibly damaging	Het
Lnpep	A	G	17: 17,566,730	S536P	probably damaging	Het
Lrp1b	A	T	2: 40,730,704	C3587*	probably null	Het
Macf1	A	T	4: 123,397,124	D3435E	possibly damaging	Het
Myg1	A	T	15: 102,336,962	N206I	probably damaging	Het
Myl12a	T	G	17: 70,994,699	R144S	probably benign	Het
Myo5a	T	A	9: 75,147,897	I454K	probably damaging	Het
Nwd2	A	G	5: 63,807,708	D1545G	probably benign	Het
Ogdhl	T	G	14: 32,339,224	D457E	probably damaging	Het
Olfr202	T	A	16: 59,284,341	D52V	probably damaging	Het
Olfr466	A	C	13: 65,152,774	L183F	probably damaging	Het
Paf1	A	G	7: 28,395,670	I112V	possibly damaging	Het
Pcdhga4	C	T	18: 37,686,745	P449L	probably damaging	Het
Pla2g6	A	T	15: 79,299,142	I495N	possibly damaging	Het
Ptgs1	A	G	2: 36,237,222	Y40C	probably damaging	Het
Ptprn2	A	T	12: 117,184,647	I676F	probably damaging	Het
Rev3l	T	C	10: 39,824,931	L1808P	possibly damaging	Het
Sall2	A	G	14: 52,313,129	S868P	probably damaging	Het
Slc47a2	A	G	11: 61,307,586	F428L	probably benign	Het
Slco3a1	A	T	7: 74,284,615	F603Y	possibly damaging	Het
Smyd2	A	T	1: 189,909,893	C65*	probably null	Het
Ssu72	T	C	4: 155,715,550	F57L	probably damaging	Het
Tanc2	A	G	11: 105,922,883	T1718A	probably benign	Het
Tnks	G	C	8: 34,965,566	P34A	unknown	Het
Top3a	G	A	11: 60,762,522	T42I	probably damaging	Het
Trank1	T	C	9: 111,391,301	S2369P	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubqln1	T	C	13: 58,183,183	Q410R	probably damaging	Het
Vmn2r11	A	G	5: 109,059,358	I32T	possibly damaging	Het
Xcr1	A	G	9: 123,856,310	F129S	probably benign	Het

Other mutations in Mmp1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Mmp1b	APN	9	7387946	missense	probably benign	0.00
IGL00339:Mmp1b	APN	9	7368304	missense	probably benign	0.19
IGL00832:Mmp1b	APN	9	7387023	missense	possibly damaging	0.81
IGL01110:Mmp1b	APN	9	7384921	missense	probably benign	0.02
IGL02121:Mmp1b	APN	9	7384935	missense	probably benign	0.22
IGL02143:Mmp1b	APN	9	7386400	missense	probably benign	0.10
IGL02698:Mmp1b	APN	9	7384877	missense	probably damaging	1.00
IGL02928:Mmp1b	APN	9	7368242	makesense	probably null
IGL03218:Mmp1b	APN	9	7387907	missense	probably benign	0.07
IGL03304:Mmp1b	APN	9	7384701	missense	probably damaging	1.00
IGL02802:Mmp1b	UTSW	9	7384709	missense	probably benign	0.08
R0122:Mmp1b	UTSW	9	7386689	missense	probably damaging	0.99
R0506:Mmp1b	UTSW	9	7387013	missense	possibly damaging	0.52
R0600:Mmp1b	UTSW	9	7387947	missense	possibly damaging	0.55
R1454:Mmp1b	UTSW	9	7386693	missense	probably damaging	1.00
R1466:Mmp1b	UTSW	9	7384779	splice site	probably benign
R1696:Mmp1b	UTSW	9	7386699	missense	probably damaging	0.99
R1837:Mmp1b	UTSW	9	7386409	missense	probably damaging	1.00
R1986:Mmp1b	UTSW	9	7368577	missense	probably benign	0.01
R2031:Mmp1b	UTSW	9	7368607	missense	possibly damaging	0.68
R2098:Mmp1b	UTSW	9	7386984	missense	probably benign	0.03
R2107:Mmp1b	UTSW	9	7369310	missense	probably damaging	1.00
R2847:Mmp1b	UTSW	9	7370763	missense	probably benign	0.05
R2870:Mmp1b	UTSW	9	7386875	synonymous	silent
R3944:Mmp1b	UTSW	9	7384708	missense	possibly damaging	0.73
R4654:Mmp1b	UTSW	9	7370849	missense	probably benign	0.18
R4829:Mmp1b	UTSW	9	7370729	critical splice donor site	probably null
R5329:Mmp1b	UTSW	9	7384897	missense	possibly damaging	0.61
R5332:Mmp1b	UTSW	9	7384897	missense	possibly damaging	0.61
R5333:Mmp1b	UTSW	9	7384897	missense	possibly damaging	0.61
R5418:Mmp1b	UTSW	9	7384897	missense	possibly damaging	0.61
R5420:Mmp1b	UTSW	9	7384897	missense	possibly damaging	0.61
R6053:Mmp1b	UTSW	9	7385031	missense	probably benign	0.07
R6394:Mmp1b	UTSW	9	7386316	missense	probably benign	0.20
R6774:Mmp1b	UTSW	9	7387914	missense	probably benign	0.00
R6842:Mmp1b	UTSW	9	7384888	missense	probably damaging	1.00
R7092:Mmp1b	UTSW	9	7386981	missense	probably damaging	1.00
R7146:Mmp1b	UTSW	9	7385014	missense	probably damaging	1.00
R7549:Mmp1b	UTSW	9	7384753	missense	probably benign	0.21
R7658:Mmp1b	UTSW	9	7386675	missense	possibly damaging	0.59
Z1177:Mmp1b	UTSW	9	7369322	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGGATCCAGTGTTGCATCTG -3'
(R):5'- AGTGACTAAGAAGATTTACCCTGG -3'

Sequencing Primer
(F):5'- GATCCAGTGTTGCATCTGTTAAC -3'
(R):5'- ACCCTGGAAGATTATTTCCTTACTAC -3'

Posted On

2016-09-01