Mutagenetix > Incidental Mutation

Incidental Mutation 'R7426:Mmp23'

576058

Institutional Source

Beutler Lab

Gene Symbol

Mmp23

Ensembl Gene

ENSMUSG00000029061

Gene Name

matrix metallopeptidase 23

Synonyms

CA-MMP, cysteine array matrix metalloproteinase

MMRRC Submission

045504-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7426 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155735112-155737841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155736041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 204 (T204S)

Ref Sequence

ENSEMBL: ENSMUSP00000030937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030937] [ENSMUST00000067081] [ENSMUST00000103176] [ENSMUST00000105598] [ENSMUST00000105600]

AlphaFold

O88676

Predicted Effect

probably damaging
Transcript: ENSMUST00000030937
AA Change: T204S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030937
Gene: ENSMUSG00000029061
AA Change: T204S

Domain	Start	End	E-Value	Type
low complexity region	19	41	N/A	INTRINSIC
ZnMc	85	256	8.39e-48	SMART
ShKT	255	291	4.06e-10	SMART
IG	307	390	4.53e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000067081

SMART Domains

Protein: ENSMUSP00000070527
Gene: ENSMUSG00000029062

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
low complexity region	93	112	N/A	INTRINSIC
coiled coil region	123	214	N/A	INTRINSIC
low complexity region	252	259	N/A	INTRINSIC
low complexity region	261	272	N/A	INTRINSIC
coiled coil region	290	337	N/A	INTRINSIC
low complexity region	369	383	N/A	INTRINSIC
S_TKc	427	712	5.05e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103176

SMART Domains

Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060

Domain	Start	End	E-Value	Type
Pfam:MIB_HERC2	12	78	3.4e-26	PFAM
ZnF_ZZ	85	130	6.44e-9	SMART
Pfam:MIB_HERC2	160	225	4.2e-26	PFAM
Blast:ANK	285	320	2e-13	BLAST
ANK	428	457	8.52e-4	SMART
ANK	461	490	6.71e-2	SMART
ANK	494	523	9.93e-5	SMART
ANK	527	559	1.1e2	SMART
ANK	563	593	9.21e0	SMART
ANK	597	627	3.57e-6	SMART
ANK	631	660	3.31e-1	SMART
ANK	664	709	1.73e3	SMART
Blast:ANK	733	762	9e-10	BLAST
low complexity region	763	772	N/A	INTRINSIC
RING	798	832	2.55e-1	SMART
RING	877	909	1.81e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105598

SMART Domains

Protein: ENSMUSP00000101223
Gene: ENSMUSG00000029062

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	59	78	N/A	INTRINSIC
coiled coil region	89	180	N/A	INTRINSIC
low complexity region	218	225	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
coiled coil region	256	303	N/A	INTRINSIC
low complexity region	335	349	N/A	INTRINSIC
S_TKc	393	678	5.05e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105600

SMART Domains

Protein: ENSMUSP00000101225
Gene: ENSMUSG00000029062

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
low complexity region	93	112	N/A	INTRINSIC
coiled coil region	123	214	N/A	INTRINSIC
low complexity region	252	259	N/A	INTRINSIC
low complexity region	261	272	N/A	INTRINSIC
coiled coil region	290	337	N/A	INTRINSIC
low complexity region	369	383	N/A	INTRINSIC
S_TKc	427	712	5.05e-93	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (114/118)

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 protein contains an N-terminal cysteine array and a novel immunoglobulin-fold domain at the C-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing. [provided by RefSeq, Feb 2016]

Allele List at MGI

All alleles(5) : Targeted(2) Gene trapped(3)

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	A	7: 119,945,221 (GRCm39)	N432K	possibly damaging	Het
Abitram	A	G	4: 56,804,230 (GRCm39)	I82V	probably null	Het
Adamtsl5	G	A	10: 80,180,693 (GRCm39)	T123I	probably benign	Het
Aff4	T	C	11: 53,263,702 (GRCm39)	S241P	probably damaging	Het
Agl	A	G	3: 116,552,404 (GRCm39)	L510P		Het
Aox1	A	T	1: 58,329,142 (GRCm39)	K196*	probably null	Het
Arhgef37	A	G	18: 61,637,456 (GRCm39)	L402P	probably damaging	Het
Arid4b	T	C	13: 14,355,891 (GRCm39)		probably null	Het
Atp5pb	A	G	3: 105,851,118 (GRCm39)	V193A	probably benign	Het
Atp8b3	A	G	10: 80,365,463 (GRCm39)		probably null	Het
Baz2a	G	T	10: 127,951,947 (GRCm39)	R555L	probably damaging	Het
Casp4	G	T	9: 5,321,345 (GRCm39)	S32I	possibly damaging	Het
Cd300lb	A	G	11: 114,819,128 (GRCm39)	V167A	probably damaging	Het
Cdc42bpg	C	T	19: 6,368,428 (GRCm39)	T1042I	probably damaging	Het
Ceacam20	T	C	7: 19,704,159 (GRCm39)	F70S	probably damaging	Het
Cep162	C	T	9: 87,074,819 (GRCm39)	V1388I	probably damaging	Het
Cfap65	A	G	1: 74,959,585 (GRCm39)	V855A	possibly damaging	Het
Chil3	G	T	3: 106,063,022 (GRCm39)	D189E	probably benign	Het
Cln3	A	G	7: 126,180,912 (GRCm39)	I43T	probably benign	Het
Cntnap5a	A	G	1: 116,370,110 (GRCm39)	Q909R	probably benign	Het
Ctsd	C	A	7: 141,937,278 (GRCm39)	A77S	probably damaging	Het
Dnah12	T	A	14: 26,445,781 (GRCm39)	S781T	probably benign	Het
Dnah17	T	A	11: 117,981,543 (GRCm39)	Q1716L	probably null	Het
Dock3	C	A	9: 106,772,782 (GRCm39)	M490I	probably benign	Het
Erg	T	C	16: 95,260,015 (GRCm39)		probably null	Het
Farp2	A	T	1: 93,548,950 (GRCm39)	M1019L	possibly damaging	Het
Fcgbp	A	G	7: 27,785,949 (GRCm39)	K462R	probably benign	Het
Fn1	A	T	1: 71,688,384 (GRCm39)	N173K	probably damaging	Het
Fsip2	A	T	2: 82,810,441 (GRCm39)	L2253F	probably damaging	Het
Gabrd	C	T	4: 155,469,970 (GRCm39)	R413H	possibly damaging	Het
Galnt5	A	T	2: 57,907,151 (GRCm39)	D538V	probably damaging	Het
Gje1	T	A	10: 14,592,223 (GRCm39)	L186F	probably damaging	Het
Gm16686	A	T	4: 88,673,563 (GRCm39)	C89S	unknown	Het
Gna15	G	T	10: 81,338,831 (GRCm39)	A336E	probably benign	Het
Golga4	C	T	9: 118,388,563 (GRCm39)	S1895L	probably benign	Het
Gon4l	A	T	3: 88,814,829 (GRCm39)	M1933L	probably benign	Het
Gpr183	T	C	14: 122,192,156 (GRCm39)	S122G	possibly damaging	Het
Gtf2h4	G	A	17: 35,980,250 (GRCm39)	T348I	probably damaging	Het
Hace1	T	C	10: 45,481,636 (GRCm39)	Y120H	probably damaging	Het
Hivep2	C	T	10: 14,007,061 (GRCm39)	H1220Y	possibly damaging	Het
Hmx2	T	C	7: 131,156,232 (GRCm39)	F66S	probably benign	Het
Hoxd12	A	T	2: 74,505,569 (GRCm39)	S47C	possibly damaging	Het
Hp	C	A	8: 110,301,832 (GRCm39)		probably null	Het
Idh3a	T	A	9: 54,508,492 (GRCm39)	D355E	probably benign	Het
Itga2b	A	T	11: 102,347,120 (GRCm39)	M921K	probably benign	Het
Jcad	A	G	18: 4,675,529 (GRCm39)	D1097G	probably benign	Het
Kdm5b	A	T	1: 134,523,571 (GRCm39)	T249S	probably benign	Het
Klhl11	G	T	11: 100,355,178 (GRCm39)	H214Q	probably benign	Het
L3hypdh	A	T	12: 72,131,705 (GRCm39)	Y76N	probably damaging	Het
Lama4	G	T	10: 38,921,751 (GRCm39)	R424L	possibly damaging	Het
Lepr	A	G	4: 101,602,853 (GRCm39)	I214V	probably benign	Het
Lipc	G	T	9: 70,709,450 (GRCm39)	N432K	probably benign	Het
Lipm	C	T	19: 34,093,598 (GRCm39)	A216V	possibly damaging	Het
Lrrc23	A	G	6: 124,756,088 (GRCm39)	S2P	unknown	Het
Lyst	T	A	13: 13,812,109 (GRCm39)	D840E	probably benign	Het
Mms19	T	C	19: 41,936,717 (GRCm39)	T785A	probably benign	Het
Mov10	A	T	3: 104,707,368 (GRCm39)		probably null	Het
Mtf2	A	G	5: 108,248,836 (GRCm39)	T383A	probably benign	Het
Myo5c	G	A	9: 75,158,809 (GRCm39)		probably null	Het
Nfxl1	A	T	5: 72,681,517 (GRCm39)	C671*	probably null	Het
Npepps	A	G	11: 97,103,982 (GRCm39)	V813A	probably benign	Het
Nrn1	C	A	13: 36,910,825 (GRCm39)	W69L	probably damaging	Het
Oprd1	A	C	4: 131,841,378 (GRCm39)	D193E	probably benign	Het
Or2ag1b	T	A	7: 106,288,417 (GRCm39)	I174F	possibly damaging	Het
Or52p1	C	T	7: 104,267,059 (GRCm39)	H58Y	probably damaging	Het
Or55b3	A	T	7: 102,126,883 (GRCm39)	Y65N	probably damaging	Het
Or56b2j	T	A	7: 104,352,796 (GRCm39)	D7E	probably benign	Het
Or6c202	A	G	10: 128,996,620 (GRCm39)	Y78H	possibly damaging	Het
Or6c209	T	C	10: 129,483,027 (GRCm39)	I10T	probably damaging	Het
Or6k6	A	C	1: 173,944,753 (GRCm39)	F276L	probably benign	Het
Pcdhac1	G	T	18: 37,225,550 (GRCm39)	V788L	probably benign	Het
Pcdhb11	G	A	18: 37,556,313 (GRCm39)	V548M	probably damaging	Het
Pde4c	A	T	8: 71,201,621 (GRCm39)	E517V	possibly damaging	Het
Pdzd7	T	C	19: 45,022,086 (GRCm39)	R521G	possibly damaging	Het
Pik3c2a	T	A	7: 115,972,089 (GRCm39)	K780N	probably damaging	Het
Plb1	T	G	5: 32,478,591 (GRCm39)		probably null	Het
Plcb4	T	A	2: 135,842,139 (GRCm39)	L1041Q	probably benign	Het
Pnpla6	G	A	8: 3,566,540 (GRCm39)		probably null	Het
Ppat	A	T	5: 77,063,826 (GRCm39)	N441K	probably damaging	Het
Ppp1r1b	G	A	11: 98,246,305 (GRCm39)	A132T	probably damaging	Het
Prl2c2	A	C	13: 13,172,065 (GRCm39)		probably null	Het
Prr14	T	C	7: 127,074,458 (GRCm39)	I330T	probably benign	Het
Pycr1	T	C	11: 120,533,749 (GRCm39)	D36G	probably benign	Het
Rabep2	T	A	7: 126,037,891 (GRCm39)	I221N	probably damaging	Het
Rad23b	A	G	4: 55,370,469 (GRCm39)	D165G	probably benign	Het
Reln	G	A	5: 22,176,951 (GRCm39)	T1905I	probably damaging	Het
Ripor2	T	C	13: 24,878,188 (GRCm39)	V321A	probably benign	Het
Rnf43	A	G	11: 87,622,678 (GRCm39)	D466G	probably benign	Het
Rpl6	A	T	5: 121,343,655 (GRCm39)	R63W	possibly damaging	Het
S100a14	A	G	3: 90,435,511 (GRCm39)	T102A	probably benign	Het
Samd11	C	A	4: 156,333,857 (GRCm39)	V195L	probably benign	Het
Scaper	G	A	9: 55,669,561 (GRCm39)	Q372*	probably null	Het
Sec14l5	G	T	16: 4,998,739 (GRCm39)	C593F	probably damaging	Het
Sema6d	T	C	2: 124,496,078 (GRCm39)	Y41H	probably damaging	Het
Serac1	G	A	17: 6,119,589 (GRCm39)	R114W	probably damaging	Het
Slc12a4	T	C	8: 106,677,468 (GRCm39)	E388G	probably benign	Het
Smarcd3	T	C	5: 24,800,810 (GRCm39)	T164A	probably benign	Het
Smtn	C	A	11: 3,480,249 (GRCm39)	R324L	probably benign	Het
Spata31d1c	C	T	13: 65,183,175 (GRCm39)	P239L	probably benign	Het
Srcap	T	C	7: 127,137,689 (GRCm39)	V1013A	possibly damaging	Het
Sv2b	T	C	7: 74,773,812 (GRCm39)	N553S	probably damaging	Het
Tex35	T	A	1: 156,932,656 (GRCm39)	N52I	probably damaging	Het
Ticrr	T	C	7: 79,343,734 (GRCm39)	S1200P	probably benign	Het
Tmem19	A	G	10: 115,183,604 (GRCm39)	L125P	probably damaging	Het
Trio	A	G	15: 27,856,193 (GRCm39)	V666A	probably benign	Het
Ttn	T	C	2: 76,747,627 (GRCm39)	D4474G	probably benign	Het
Usp43	A	T	11: 67,783,842 (GRCm39)	S368T	possibly damaging	Het
Vmn2r72	T	A	7: 85,400,348 (GRCm39)	M234L	probably benign	Het
Wdr93	T	A	7: 79,427,055 (GRCm39)		probably null	Het
Wrap73	T	A	4: 154,240,584 (GRCm39)	W359R	probably damaging	Het
Ywhah	A	G	5: 33,183,985 (GRCm39)	I63V	probably benign	Het
Zbtb7b	G	T	3: 89,288,366 (GRCm39)	P151T	probably damaging	Het
Zfp318	A	G	17: 46,710,995 (GRCm39)	N906S	probably damaging	Het
Zfp423	C	A	8: 88,507,341 (GRCm39)	C1001F	probably damaging	Het
Zmym1	A	G	4: 126,943,191 (GRCm39)	I399T	possibly damaging	Het
Zmynd15	G	A	11: 70,353,014 (GRCm39)	G296D	probably benign	Het
Znfx1	T	A	2: 166,890,475 (GRCm39)	I670F	probably damaging	Het

Other mutations in Mmp23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Mmp23	APN	4	155,735,464 (GRCm39)	missense	possibly damaging	0.67
IGL02749:Mmp23	APN	4	155,735,989 (GRCm39)	missense	possibly damaging	0.65
R0030:Mmp23	UTSW	4	155,735,768 (GRCm39)	nonsense	probably null
R0173:Mmp23	UTSW	4	155,735,222 (GRCm39)	missense	possibly damaging	0.82
R0244:Mmp23	UTSW	4	155,736,589 (GRCm39)	missense	probably damaging	1.00
R1521:Mmp23	UTSW	4	155,735,174 (GRCm39)	missense	possibly damaging	0.92
R1696:Mmp23	UTSW	4	155,735,166 (GRCm39)	makesense	probably null
R1957:Mmp23	UTSW	4	155,736,509 (GRCm39)	missense	possibly damaging	0.96
R2055:Mmp23	UTSW	4	155,736,444 (GRCm39)	missense	possibly damaging	0.76
R3946:Mmp23	UTSW	4	155,736,480 (GRCm39)	missense	probably damaging	1.00
R4170:Mmp23	UTSW	4	155,735,767 (GRCm39)	missense	probably damaging	0.99
R5153:Mmp23	UTSW	4	155,735,797 (GRCm39)	missense	probably damaging	1.00
R5660:Mmp23	UTSW	4	155,735,710 (GRCm39)	missense	probably damaging	1.00
R6193:Mmp23	UTSW	4	155,735,990 (GRCm39)	missense	possibly damaging	0.90
R6480:Mmp23	UTSW	4	155,736,798 (GRCm39)	missense	probably damaging	1.00
R7979:Mmp23	UTSW	4	155,736,462 (GRCm39)	missense	possibly damaging	0.90
R9500:Mmp23	UTSW	4	155,736,567 (GRCm39)	missense	probably benign	0.17
R9545:Mmp23	UTSW	4	155,735,980 (GRCm39)	missense	probably benign	0.00
R9757:Mmp23	UTSW	4	155,735,515 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAAATCCCTTTCGTGCCCAG -3'
(R):5'- ATTCCTGAAGGCCAAGCTCAC -3'

Sequencing Primer
(F):5'- TTTCGTGCCCAGGATGC -3'
(R):5'- GGCCAAGCTCACAGCCTAG -3'

Posted On

2019-10-07