Mutagenetix > Incidental Mutation

Incidental Mutation 'R8922:Mmp21'

711111

Institutional Source

Beutler Lab

Gene Symbol

Mmp21

Ensembl Gene

ENSMUSG00000030981

Gene Name

matrix metallopeptidase 21

Synonyms

b2b2458Clo, b2b873Clo

MMRRC Submission

068767-MU

Accession Numbers

Essential gene?

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

Stock #

R8922 (G1)

Quality Score

112.008

Status

Validated

Chromosome

Chromosomal Location

133275999-133281790 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 133276000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8K3F2

Predicted Effect

probably benign
Transcript: ENSMUST00000033278

SMART Domains

Protein: ENSMUSP00000033278
Gene: ENSMUSG00000030981

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 benign
Transcript: ENSMUST00000122136

SMART Domains

Protein: ENSMUSP00000113853
Gene: ENSMUSG00000030981

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

probably benign
Transcript: ENSMUST00000176661

SMART Domains

Protein: ENSMUSP00000134967
Gene: ENSMUSG00000039990

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (78/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	G	8: 88,295,177 (GRCm39)	D105G	possibly damaging	Het
Abhd14b	T	C	9: 106,328,835 (GRCm39)		probably null	Het
Acot1	C	T	12: 84,064,085 (GRCm39)	Q398*	probably null	Het
Adam26b	A	T	8: 43,973,216 (GRCm39)	D595E	probably damaging	Het
Aldh1l1	T	A	6: 90,536,256 (GRCm39)	F54I	probably damaging	Het
Arhgap33	C	T	7: 30,223,417 (GRCm39)	E871K	probably damaging	Het
Aspg	A	T	12: 112,089,830 (GRCm39)	D456V	possibly damaging	Het
Cacna1b	A	C	2: 24,622,340 (GRCm39)	S215A	possibly damaging	Het
Car3	A	T	3: 14,931,952 (GRCm39)	T108S		Het
Ccdc91	C	T	6: 147,412,358 (GRCm39)	Q23*	probably null	Het
Cd300lg	A	T	11: 101,945,028 (GRCm39)	I413F	probably damaging	Het
Ces2h	T	A	8: 105,744,756 (GRCm39)	M378K	probably benign	Het
Cfap44	C	T	16: 44,272,030 (GRCm39)	T1261I	probably benign	Het
Cir1	G	A	2: 73,118,053 (GRCm39)	S164L	possibly damaging	Het
Clasp2	A	T	9: 113,725,728 (GRCm39)	K790*	probably null	Het
Cpne8	A	T	15: 90,456,213 (GRCm39)	D183E	probably damaging	Het
Dhrs13	A	G	11: 77,923,425 (GRCm39)	I48V	possibly damaging	Het
Dpp8	G	T	9: 64,981,793 (GRCm39)	V692L	probably benign	Het
Exoc2	A	T	13: 31,055,838 (GRCm39)	I660N	probably benign	Het
Exosc5	T	C	7: 25,363,673 (GRCm39)	V88A	probably benign	Het
Extl3	G	A	14: 65,292,255 (GRCm39)	T856I	probably damaging	Het
Flnc	T	C	6: 29,456,835 (GRCm39)	V2277A	probably damaging	Het
Frmd8	A	G	19: 5,923,295 (GRCm39)	I52T	probably benign	Het
Gm8947	C	T	1: 151,068,655 (GRCm39)	R163C	probably benign	Het
Golga7	A	T	8: 23,740,288 (GRCm39)	C81S	probably damaging	Het
Grik1	A	C	16: 87,693,167 (GRCm39)	S879A	unknown	Het
Helz	A	G	11: 107,539,985 (GRCm39)	T1002A	possibly damaging	Het
Hes1	T	A	16: 29,884,725 (GRCm39)	L62*	probably null	Het
Hmgn2-ps	A	G	8: 73,058,953 (GRCm39)	S25P	probably benign	Het
Hnrnpdl	A	T	5: 100,184,419 (GRCm39)	Y371*	probably null	Het
Ifna11	T	C	4: 88,738,431 (GRCm39)	V79A	probably benign	Het
Itga4	A	G	2: 79,085,938 (GRCm39)		probably benign	Het
Kap	T	C	6: 133,827,054 (GRCm39)	I110V	probably benign	Het
Lmbrd2	A	G	15: 9,172,231 (GRCm39)	K342E	probably damaging	Het
Lrba	A	G	3: 86,263,973 (GRCm39)	D1549G	probably damaging	Het
Luzp1	C	T	4: 136,270,233 (GRCm39)	H819Y	probably damaging	Het
Mto1	T	C	9: 78,377,928 (GRCm39)	V590A	probably benign	Het
Myom3	T	C	4: 135,492,222 (GRCm39)	L122P	probably damaging	Het
Nat10	T	C	2: 103,582,938 (GRCm39)	Y161C	probably damaging	Het
Ncor2	A	G	5: 125,163,939 (GRCm39)	V197A	unknown	Het
Opn4	A	C	14: 34,314,955 (GRCm39)	S439R	probably benign	Het
Or12j3	T	A	7: 139,953,389 (GRCm39)	I45F	possibly damaging	Het
Or4c3d	C	A	2: 89,882,695 (GRCm39)		probably benign	Het
Or56a41	C	A	7: 104,740,469 (GRCm39)	V126L	probably benign	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,957 (GRCm39)	D231E	unknown	Het
Pik3c2a	G	T	7: 116,017,659 (GRCm39)	Q33K	probably damaging	Het
Pm20d1	G	T	1: 131,728,853 (GRCm39)	S93I	possibly damaging	Het
Pou3f1	C	T	4: 124,552,176 (GRCm39)	A226V	possibly damaging	Het
Ppl	T	C	16: 4,923,815 (GRCm39)	E191G	probably benign	Het
Prkag1	T	C	15: 98,712,147 (GRCm39)	T208A	probably benign	Het
Rb1cc1	T	C	1: 6,319,194 (GRCm39)	I871T	probably benign	Het
Rhd	T	C	4: 134,612,627 (GRCm39)	S293P	probably damaging	Het
Rprd2	G	T	3: 95,687,896 (GRCm39)	T252K	probably damaging	Het
Scn5a	C	A	9: 119,363,766 (GRCm39)	R458L	probably benign	Het
Scrib	C	T	15: 75,933,587 (GRCm39)		probably null	Het
Sec24d	G	A	3: 123,144,488 (GRCm39)	G655E	probably damaging	Het
Serpine3	A	G	14: 62,910,503 (GRCm39)	R199G	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc44a1	A	G	4: 53,544,545 (GRCm39)	K419E	probably damaging	Het
Speer4a3	C	T	5: 26,156,594 (GRCm39)	M128I	possibly damaging	Het
Styxl1	T	C	5: 135,776,634 (GRCm39)	E318G	probably benign	Het
Tcstv2a	A	G	13: 120,725,666 (GRCm39)	E110G	probably benign	Het
Tesmin	A	G	19: 3,454,163 (GRCm39)	K346E	probably damaging	Het
Thpo	A	T	16: 20,547,680 (GRCm39)	L6Q	unknown	Het
Tlr2	T	A	3: 83,745,075 (GRCm39)	E336V	probably benign	Het
Tmem167b	A	G	3: 108,467,541 (GRCm39)	L35P	probably benign	Het
Topaz1	A	T	9: 122,625,101 (GRCm39)	E1395D	possibly damaging	Het
Trim29	G	T	9: 43,233,636 (GRCm39)	R434L	possibly damaging	Het
Trim68	T	C	7: 102,327,550 (GRCm39)	I468V	probably benign	Het
Ttn	C	A	2: 76,542,628 (GRCm39)	V33453F	probably benign	Het
Ubac1	A	T	2: 25,896,621 (GRCm39)	V298D	probably damaging	Het
Vmn1r185	C	A	7: 26,310,825 (GRCm39)	V227F	probably damaging	Het
Vmn1r21	T	A	6: 57,820,829 (GRCm39)	H205L	probably damaging	Het
Zbtb16	A	G	9: 48,743,857 (GRCm39)	Y152H	probably benign	Het
Zbtb20	A	T	16: 43,397,968 (GRCm39)	N19I	probably damaging	Het
Zfp438	A	G	18: 5,213,422 (GRCm39)	M512T	possibly damaging	Het

Other mutations in Mmp21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01868:Mmp21	APN	7	133,277,643 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCCCTTTCCTAGACCAGAAC -3'
(R):5'- AAACCTGTTTCCGAGAAGTGG -3'

Sequencing Primer
(F):5'- CCAGAACTCAGTTTCAGTGCTCTAAG -3'
(R):5'- CCTGTTTCCGAGAAGTGGTTTGATG -3'

Posted On

2022-04-27