Mutagenetix > Incidental Mutation

Incidental Mutation 'R2847:Mmp1b'

251718

Institutional Source

Beutler Lab

Gene Symbol

Mmp1b

Ensembl Gene

ENSMUSG00000041620

Gene Name

matrix metallopeptidase 1b (interstitial collagenase)

Synonyms

Mcol-B

MMRRC Submission

040440-MU

Accession Numbers

Essential gene?

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

Stock #

R2847 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7368239-7388047 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7370763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 331 (V331I)

Ref Sequence

ENSEMBL: ENSMUSP00000047261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047888] [ENSMUST00000065079]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047888
AA Change: V331I

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000047261
Gene: ENSMUSG00000041620
AA Change: V331I

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

probably benign
Transcript: ENSMUST00000065079

SMART Domains

Protein: ENSMUSP00000065291
Gene: ENSMUSG00000049723

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	30	91	6.5e-22	PFAM
ZnMc	109	268	1.23e-54	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930510E17Rik	T	C	9: 53,176,089 (GRCm39)		noncoding transcript	Het
Abca13	T	C	11: 9,244,584 (GRCm39)	V2149A	possibly damaging	Het
Abca8a	T	C	11: 109,932,931 (GRCm39)	D1231G	probably damaging	Het
Adgrf5	C	A	17: 43,733,531 (GRCm39)	N118K	possibly damaging	Het
Atxn1	A	T	13: 45,720,175 (GRCm39)	D573E	probably damaging	Het
Bub3	C	T	7: 131,172,613 (GRCm39)	T326M	possibly damaging	Het
Cd151	T	C	7: 141,049,463 (GRCm39)	Y57H	probably damaging	Het
Cib4	T	C	5: 30,645,932 (GRCm39)	N112S	probably damaging	Het
Cntnap5c	A	T	17: 58,183,387 (GRCm39)	D31V	probably damaging	Het
Cobl	A	G	11: 12,328,342 (GRCm39)	L81P	probably damaging	Het
Cpsf1	A	T	15: 76,487,051 (GRCm39)	L209Q	probably damaging	Het
Crocc	G	A	4: 140,746,067 (GRCm39)	A1684V	probably damaging	Het
Cyp4f37	T	A	17: 32,848,099 (GRCm39)	C206S	probably damaging	Het
Defb39	C	T	8: 19,102,909 (GRCm39)	R62H	possibly damaging	Het
Dennd2b	T	C	7: 109,124,544 (GRCm39)	Q1099R	probably damaging	Het
Dnah6	T	C	6: 73,106,314 (GRCm39)	K1756E	probably benign	Het
Efcab12	A	G	6: 115,788,072 (GRCm39)	I630T	probably damaging	Het
Erc2	T	C	14: 27,762,445 (GRCm39)	V736A	probably damaging	Het
Fbf1	C	T	11: 116,048,514 (GRCm39)		probably null	Het
Fndc9	C	T	11: 46,128,868 (GRCm39)	A129V	probably damaging	Het
Foxk2	CGGGGGG	CGGGGGGGGG	11: 121,151,317 (GRCm39)		probably benign	Het
Gba2	T	C	4: 43,568,000 (GRCm39)		probably null	Het
Gna12	T	A	5: 140,771,348 (GRCm39)	D61V	probably damaging	Het
Gpr37	C	T	6: 25,666,945 (GRCm39)		probably benign	Het
Grin2a	A	G	16: 9,579,829 (GRCm39)	F145L	possibly damaging	Het
Grin2b	C	A	6: 135,717,951 (GRCm39)	V714L	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hmcn1	G	T	1: 150,439,350 (GRCm39)	Y5494*	probably null	Het
Htr4	T	C	18: 62,561,197 (GRCm39)	S153P	probably damaging	Het
Igkv9-120	T	A	6: 68,027,128 (GRCm39)		probably benign	Het
Itgb6	T	C	2: 60,430,879 (GRCm39)	T772A	probably damaging	Het
Mgam	C	A	6: 40,629,649 (GRCm39)	A86E	possibly damaging	Het
Mme	T	A	3: 63,252,620 (GRCm39)	N421K	possibly damaging	Het
Naa16	A	G	14: 79,573,323 (GRCm39)	C816R	probably damaging	Het
Nav1	G	C	1: 135,378,382 (GRCm39)		probably null	Het
Nln	A	G	13: 104,161,533 (GRCm39)	M679T	probably damaging	Het
Or1n1b	A	G	2: 36,780,536 (GRCm39)	L108P	probably damaging	Het
Or8b53	C	T	9: 38,667,332 (GRCm39)	T116I	possibly damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Otop3	T	C	11: 115,235,384 (GRCm39)	F339L	probably damaging	Het
Pax7	T	C	4: 139,506,954 (GRCm39)	D361G	possibly damaging	Het
Peg10	C	T	6: 4,756,912 (GRCm39)		probably benign	Het
Plekhh2	G	T	17: 84,905,394 (GRCm39)	R1096L	probably damaging	Het
Poteg	A	T	8: 27,971,704 (GRCm39)	N406I	probably benign	Het
Rnf43	T	A	11: 87,623,093 (GRCm39)	N731K	probably benign	Het
Robo4	C	T	9: 37,315,772 (GRCm39)	R342*	probably null	Het
Sec23ip	G	A	7: 128,355,797 (GRCm39)	V307I	probably benign	Het
Slc2a4	T	A	11: 69,836,997 (GRCm39)	N116Y	probably damaging	Het
Tas1r3	T	A	4: 155,944,659 (GRCm39)	Q854L	probably benign	Het
Tox3	G	A	8: 90,975,018 (GRCm39)	Q538*	probably null	Het
Trpm4	A	G	7: 44,960,022 (GRCm39)	F771S	probably damaging	Het
Tstd3	A	T	4: 21,759,375 (GRCm39)	F132L	possibly damaging	Het
Ulk2	T	C	11: 61,715,555 (GRCm39)		probably null	Het
Unc13b	T	C	4: 43,180,404 (GRCm39)	Y3080H	probably benign	Het
Utp25	A	T	1: 192,810,759 (GRCm39)	N81K	probably benign	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn2r114	A	T	17: 23,509,948 (GRCm39)	M844K	probably benign	Het
Vmn2r60	A	T	7: 41,785,857 (GRCm39)	H220L	probably benign	Het
Vps13a	A	G	19: 16,680,963 (GRCm39)	S1078P	probably damaging	Het
Vwa8	G	T	14: 79,184,582 (GRCm39)	R360L	probably benign	Het
Xlr4b	A	T	X: 72,258,938 (GRCm39)	Q25L	probably null	Het
Zdhhc22	T	A	12: 87,035,336 (GRCm39)	T39S	probably benign	Het
Zfp532	T	A	18: 65,789,697 (GRCm39)	H1045Q	possibly damaging	Het
Zfp773	AGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGC	7: 7,136,092 (GRCm39)		probably benign	Het
Zfp964	G	C	8: 70,116,504 (GRCm39)	C368S	unknown	Het
Zfp985	G	A	4: 147,667,468 (GRCm39)	W112*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ACTAAGTGGATGGACTCACATTAAC -3'
(R):5'- GCAGAAACCTTCATGCCTTACC -3'

Sequencing Primer
(F):5'- GGATGGACTCACATTAACTTACTTGG -3'
(R):5'- TAGACATTTGCTGACAGGACC -3'

Posted On

2014-12-04