Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01868:Mmp21'

178623

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmp21

Ensembl Gene

ENSMUSG00000030981

Gene Name

matrix metallopeptidase 21

Synonyms

b2b2458Clo, b2b873Clo

Accession Numbers

Essential gene?

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

Stock #

IGL01868

Quality Score

Status

Chromosome

Chromosomal Location

133275999-133281790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133277643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 394 (D394E)

Ref Sequence

ENSEMBL: ENSMUSP00000113853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033278] [ENSMUST00000051169] [ENSMUST00000122136] [ENSMUST00000128901]

AlphaFold

Q8K3F2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033278
AA Change: D394E

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033278
Gene: ENSMUSG00000030981
AA Change: D394E

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	46	107	5.6e-13	PFAM
low complexity region	117	133	N/A	INTRINSIC
ZnMc	166	327	2.67e-32	SMART
HX	332	390	1.97e-1	SMART
HX	393	448	5.36e-6	SMART
HX	450	497	9.33e-6	SMART
HX	505	548	1.11e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000051169

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
low complexity region	219	237	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC
low complexity region	467	477	N/A	INTRINSIC
low complexity region	529	549	N/A	INTRINSIC
low complexity region	1171	1184	N/A	INTRINSIC
low complexity region	1229	1237	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122136
AA Change: D394E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113853
Gene: ENSMUSG00000030981
AA Change: D394E

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	46	107	1.9e-13	PFAM
low complexity region	117	133	N/A	INTRINSIC
ZnMc	166	327	2.67e-32	SMART
Pfam:Hemopexin	351	390	4.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128901

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
low complexity region	219	237	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC
low complexity region	433	443	N/A	INTRINSIC
low complexity region	495	515	N/A	INTRINSIC
low complexity region	1137	1150	N/A	INTRINSIC
low complexity region	1195	1203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137338

Predicted Effect

probably benign
Transcript: ENSMUST00000176661

SMART Domains

Protein: ENSMUSP00000134967
Gene: ENSMUSG00000039990

Domain	Start	End	E-Value	Type
low complexity region	116	124	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211072

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. Mice harboring certain mutations in this gene exhibit congenital heart defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit heterotaxia and congenital cardiovascular defects including d-loop transposition of the great arteries, tricupid valve atresia, and ventricular septal defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	A	18: 67,547,218 (GRCm39)	T569M	possibly damaging	Het
Aldh1l1	A	T	6: 90,560,212 (GRCm39)	K620*	probably null	Het
Amdhd2	G	T	17: 24,376,504 (GRCm39)	T346K	probably damaging	Het
Arhgap44	T	C	11: 64,902,904 (GRCm39)	D521G	probably damaging	Het
Ccdc146	C	A	5: 21,538,052 (GRCm39)	A91S	probably damaging	Het
Ccdc187	C	A	2: 26,170,960 (GRCm39)	R506L	probably benign	Het
Cd37	T	C	7: 44,885,603 (GRCm39)	Q128R	probably benign	Het
Cdh22	T	A	2: 164,999,278 (GRCm39)	M185L	probably damaging	Het
Cib2	A	T	9: 54,455,759 (GRCm39)	N68K	probably damaging	Het
Ddx46	C	T	13: 55,787,683 (GRCm39)	R96*	probably null	Het
Dnajc13	A	T	9: 104,039,944 (GRCm39)	H2050Q	possibly damaging	Het
Drgx	C	A	14: 32,330,334 (GRCm39)	F150L	probably damaging	Het
Duox1	A	G	2: 122,168,888 (GRCm39)	H1172R	probably benign	Het
Eftud2	C	T	11: 102,759,953 (GRCm39)	V132I	probably benign	Het
Fcrl5	G	A	3: 87,351,014 (GRCm39)	D87N	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Kat6a	T	C	8: 23,416,471 (GRCm39)	F660L	probably damaging	Het
Lipo2	T	C	19: 33,708,238 (GRCm39)	M259V	probably benign	Het
Lrrcc1	T	A	3: 14,619,417 (GRCm39)	L90*	probably null	Het
Lsm1	G	A	8: 26,283,821 (GRCm39)		probably null	Het
Luzp1	T	C	4: 136,270,048 (GRCm39)	I757T	probably damaging	Het
Micall1	A	G	15: 78,999,260 (GRCm39)	I76V	probably benign	Het
Mtfr1l	T	C	4: 134,258,018 (GRCm39)	D68G	probably null	Het
Necab2	A	G	8: 120,189,315 (GRCm39)	S162G	probably benign	Het
Or11a4	A	T	17: 37,536,043 (GRCm39)	Q9L	probably benign	Het
Or4c100	T	C	2: 88,356,059 (GRCm39)	V44A	possibly damaging	Het
Or51b17	G	A	7: 103,542,583 (GRCm39)	R120*	probably null	Het
Or6n1	C	T	1: 173,916,936 (GRCm39)	T110I	possibly damaging	Het
Pde7b	A	T	10: 20,282,911 (GRCm39)	C376*	probably null	Het
Pira12	G	A	7: 3,900,174 (GRCm39)	Q143*	probably null	Het
Plcb2	A	G	2: 118,540,071 (GRCm39)	L1074P	probably damaging	Het
Plcb2	G	T	2: 118,541,868 (GRCm39)	T914N	probably benign	Het
Prph	C	A	15: 98,954,224 (GRCm39)	D207E	probably damaging	Het
Rbp4	C	A	19: 38,112,968 (GRCm39)	R37L	probably damaging	Het
Ryr3	T	C	2: 112,633,503 (GRCm39)		probably benign	Het
Sardh	T	G	2: 27,117,159 (GRCm39)	Q496P	probably benign	Het
Serpina1f	T	A	12: 103,659,704 (GRCm39)	N193Y	probably benign	Het
Slc10a7	G	A	8: 79,423,965 (GRCm39)		probably null	Het
Spg7	T	C	8: 123,816,975 (GRCm39)		probably null	Het
Sphkap	T	C	1: 83,258,120 (GRCm39)		probably null	Het
Tas2r121	T	A	6: 132,677,235 (GRCm39)	I246L	probably benign	Het
Tbc1d9b	T	C	11: 50,052,460 (GRCm39)	F889S	probably damaging	Het
Tcp10a	T	C	17: 7,597,263 (GRCm39)	M140T	possibly damaging	Het
Tctn2	G	A	5: 124,754,591 (GRCm39)		noncoding transcript	Het
Tfap2b	G	T	1: 19,284,506 (GRCm39)	R138L	probably damaging	Het
Tnrc18	T	C	5: 142,757,567 (GRCm39)	T985A	unknown	Het
Treml1	G	A	17: 48,673,035 (GRCm39)	V211I	probably benign	Het
Ubr4	C	T	4: 139,139,989 (GRCm39)	Q1191*	probably null	Het
Vim	G	A	2: 13,583,249 (GRCm39)	R217H	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r77	A	G	7: 86,452,224 (GRCm39)	D468G	probably benign	Het
Vmn2r98	G	T	17: 19,286,548 (GRCm39)	V349F	probably benign	Het
Vwa7	A	T	17: 35,240,235 (GRCm39)	E401V	probably null	Het
Zfp119b	C	A	17: 56,246,866 (GRCm39)	V75L	possibly damaging	Het
Zfp287	C	T	11: 62,606,083 (GRCm39)	E275K	probably benign	Het

Other mutations in Mmp21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02822:Mmp21	APN	7	133,277,828 (GRCm39)	missense	possibly damaging	0.80
IGL03240:Mmp21	APN	7	133,276,300 (GRCm39)	missense	probably damaging	0.97
IGL03261:Mmp21	APN	7	133,276,403 (GRCm39)	missense	probably benign	0.01
R0659:Mmp21	UTSW	7	133,279,396 (GRCm39)	splice site	probably benign
R1037:Mmp21	UTSW	7	133,276,182 (GRCm39)	missense	probably benign	0.16
R1463:Mmp21	UTSW	7	133,277,588 (GRCm39)	splice site	probably null
R1523:Mmp21	UTSW	7	133,280,774 (GRCm39)	missense	probably benign
R1710:Mmp21	UTSW	7	133,279,014 (GRCm39)	missense	probably damaging	1.00
R1804:Mmp21	UTSW	7	133,280,611 (GRCm39)	missense	probably benign	0.01
R1848:Mmp21	UTSW	7	133,278,882 (GRCm39)	missense	probably benign	0.05
R2993:Mmp21	UTSW	7	133,280,715 (GRCm39)	missense	probably damaging	1.00
R3431:Mmp21	UTSW	7	133,280,479 (GRCm39)	missense	probably benign	0.00
R4790:Mmp21	UTSW	7	133,276,759 (GRCm39)	missense	probably damaging	1.00
R4870:Mmp21	UTSW	7	133,280,406 (GRCm39)	missense	probably damaging	1.00
R5134:Mmp21	UTSW	7	133,280,742 (GRCm39)	missense	probably benign	0.00
R5347:Mmp21	UTSW	7	133,277,651 (GRCm39)	missense	probably benign
R5682:Mmp21	UTSW	7	133,276,358 (GRCm39)	missense	probably benign	0.00
R5905:Mmp21	UTSW	7	133,280,443 (GRCm39)	missense	probably benign	0.17
R6028:Mmp21	UTSW	7	133,280,443 (GRCm39)	missense	probably benign	0.17
R6936:Mmp21	UTSW	7	133,280,704 (GRCm39)	missense	probably benign	0.01
R7657:Mmp21	UTSW	7	133,280,562 (GRCm39)	missense	probably benign	0.00
R7702:Mmp21	UTSW	7	133,280,791 (GRCm39)	missense	probably damaging	1.00
R7786:Mmp21	UTSW	7	133,276,764 (GRCm39)	missense	probably benign
R8922:Mmp21	UTSW	7	133,276,000 (GRCm39)	unclassified	probably benign
R8937:Mmp21	UTSW	7	133,280,700 (GRCm39)	missense	probably benign	0.03
R8989:Mmp21	UTSW	7	133,276,746 (GRCm39)	missense	probably damaging	1.00
Z1177:Mmp21	UTSW	7	133,276,662 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07