Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02121:Mmp1b'

280620

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmp1b

Ensembl Gene

ENSMUSG00000041620

Gene Name

matrix metallopeptidase 1b (interstitial collagenase)

Synonyms

Mcol-B

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL02121

Quality Score

Status

Chromosome

Chromosomal Location

7368239-7388047 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 7384935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 238 (T238K)

Ref Sequence

ENSEMBL: ENSMUSP00000047261 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047888
AA Change: T238K

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047261
Gene: ENSMUSG00000041620
AA Change: T238K

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

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	A	T	13: 97,159,038 (GRCm39)	V122D	unknown	Het
4930579F01Rik	T	G	3: 137,870,134 (GRCm39)	Y199S	possibly damaging	Het
Abca6	T	A	11: 110,073,750 (GRCm39)	I1434F	probably benign	Het
Acsm1	T	C	7: 119,257,635 (GRCm39)	V467A	possibly damaging	Het
Alg3	T	C	16: 20,425,285 (GRCm39)	T260A	possibly damaging	Het
Aoc1	A	G	6: 48,883,254 (GRCm39)		probably null	Het
Ap5b1	C	T	19: 5,620,815 (GRCm39)	T745I	possibly damaging	Het
Atp6v1c2	T	G	12: 17,341,441 (GRCm39)	K272Q	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cert1	T	G	13: 96,735,982 (GRCm39)	Y181D	probably benign	Het
Clcn7	C	T	17: 25,372,058 (GRCm39)	A426V	possibly damaging	Het
Clec14a	T	C	12: 58,315,223 (GRCm39)	E133G	probably damaging	Het
Dst	T	A	1: 34,267,738 (GRCm39)	V2720E	probably damaging	Het
Efr3a	C	T	15: 65,742,999 (GRCm39)		probably benign	Het
Fam83g	T	C	11: 61,575,609 (GRCm39)	S84P	probably benign	Het
Gm7251	T	C	13: 49,959,382 (GRCm39)		noncoding transcript	Het
Gnptab	T	G	10: 88,265,323 (GRCm39)	S312A	possibly damaging	Het
Grap2	C	A	15: 80,532,076 (GRCm39)	S230R	possibly damaging	Het
Grm6	T	A	11: 50,750,483 (GRCm39)	C549S	probably damaging	Het
Gtf3c1	A	T	7: 125,245,903 (GRCm39)	L1504*	probably null	Het
Iars1	A	G	13: 49,878,172 (GRCm39)	M899V	probably benign	Het
Il1rl1	T	A	1: 40,481,463 (GRCm39)		probably benign	Het
Kcna4	T	C	2: 107,126,963 (GRCm39)	Y566H	possibly damaging	Het
Kcnn2	T	C	18: 45,694,340 (GRCm39)	I175T	probably damaging	Het
Kcnt1	C	T	2: 25,791,877 (GRCm39)	T609I	probably damaging	Het
Kif3b	A	G	2: 153,159,194 (GRCm39)	R332G	probably damaging	Het
Mansc1	T	C	6: 134,598,800 (GRCm39)	D39G	probably damaging	Het
Med12	T	C	X: 100,331,948 (GRCm39)		probably benign	Het
Nav3	A	G	10: 109,594,897 (GRCm39)	S1435P	probably damaging	Het
Npc1l1	A	G	11: 6,178,157 (GRCm39)	S418P	probably benign	Het
Or14j1	T	C	17: 38,146,832 (GRCm39)	V314A	probably benign	Het
Or2ab1	T	C	11: 58,488,408 (GRCm39)	V62A	possibly damaging	Het
Or3a1b	A	G	11: 74,012,113 (GRCm39)		probably benign	Het
Or52a24	A	G	7: 103,381,676 (GRCm39)	Y181C	probably damaging	Het
Or52h1	A	C	7: 103,829,432 (GRCm39)	M61R	probably damaging	Het
Or6ae1	G	T	7: 139,742,607 (GRCm39)	D85E	probably benign	Het
Or8b3b	T	C	9: 38,584,711 (GRCm39)	T23A	probably damaging	Het
Otoa	A	G	7: 120,721,247 (GRCm39)	T421A	probably benign	Het
Otulin	G	A	15: 27,608,823 (GRCm39)	A42V	probably damaging	Het
Pcdhb1	T	A	18: 37,398,838 (GRCm39)	V263E	probably benign	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Phip	A	T	9: 82,775,423 (GRCm39)	V1053D	probably damaging	Het
Pkd1	G	A	17: 24,794,901 (GRCm39)	R2196H	probably benign	Het
Plin4	T	A	17: 56,409,131 (GRCm39)	Q1363L	probably damaging	Het
Pp2d1	C	A	17: 53,814,949 (GRCm39)	V592L	probably damaging	Het
Pramel51	T	C	12: 88,145,242 (GRCm39)	D28G	possibly damaging	Het
Prkdc	T	G	16: 15,535,048 (GRCm39)	M1649R	probably benign	Het
Ptk2b	T	C	14: 66,450,931 (GRCm39)	K12E	probably benign	Het
Rars2	G	A	4: 34,657,219 (GRCm39)	V522I	probably damaging	Het
Rpgrip1	T	A	14: 52,384,831 (GRCm39)	N646K	possibly damaging	Het
Sars2	A	G	7: 28,451,950 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,384,316 (GRCm39)	T227A	possibly damaging	Het
Smc1b	T	C	15: 84,982,186 (GRCm39)	T703A	probably benign	Het
Stk32a	G	T	18: 43,446,572 (GRCm39)	D341Y	probably benign	Het
Thap11	T	C	8: 106,582,546 (GRCm39)	V185A	possibly damaging	Het
Ttll10	C	A	4: 156,132,890 (GRCm39)	V65F	probably benign	Het
Ube2q1	T	A	3: 89,687,769 (GRCm39)	N111K	possibly damaging	Het
Upf2	C	A	2: 6,031,134 (GRCm39)		probably benign	Het
Utp25	A	T	1: 192,800,586 (GRCm39)	D411E	probably benign	Het
Vasp	T	A	7: 18,991,637 (GRCm39)		probably benign	Het
Vmn2r104	C	T	17: 20,262,056 (GRCm39)	W358*	probably null	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Wdfy3	C	T	5: 102,046,376 (GRCm39)	G1826R	possibly damaging	Het
Wdr7	T	A	18: 63,910,616 (GRCm39)	Y669*	probably null	Het
Wdr72	T	A	9: 74,189,011 (GRCm39)		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
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
R2870:Mmp1b	UTSW	9	7,386,875 (GRCm39)	synonymous	silent
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

Posted On

2015-04-16