Mutagenetix > Incidental Mutation

Incidental Mutation 'R0173:Mmp23'

23705

Institutional Source

Beutler Lab

Gene Symbol

Mmp23

Ensembl Gene

ENSMUSG00000029061

Gene Name

matrix metallopeptidase 23

Synonyms

CA-MMP, cysteine array matrix metalloproteinase

MMRRC Submission

038445-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0173 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

155735112-155737841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 155735222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 374 (R374S)

Ref Sequence

ENSEMBL: ENSMUSP00000030937 (fasta)

Gene Model

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

AlphaFold

O88676

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030937
AA Change: R374S

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030937
Gene: ENSMUSG00000029061
AA Change: R374S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139242

Meta Mutation Damage Score

0.1259

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.1%

Validation Efficiency

96% (64/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	G	A	8: 100,148,286 (GRCm39)		noncoding transcript	Het
Akt1s1	C	T	7: 44,502,284 (GRCm39)	P95S	possibly damaging	Het
Ambra1	T	C	2: 91,640,564 (GRCm39)		probably benign	Het
Aunip	T	A	4: 134,250,861 (GRCm39)	W269R	probably damaging	Het
Bmper	A	G	9: 23,136,125 (GRCm39)	M69V	probably benign	Het
Cdh2	A	T	18: 16,783,314 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,965,744 (GRCm39)	M2074T	probably benign	Het
Col14a1	C	T	15: 55,351,928 (GRCm39)	P1592S	probably damaging	Het
Csgalnact1	G	A	8: 68,913,681 (GRCm39)	R175C	probably damaging	Het
Dtx1	A	G	5: 120,820,818 (GRCm39)		probably benign	Het
Elmod3	T	C	6: 72,554,571 (GRCm39)	D154G	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Gab1	T	C	8: 81,526,789 (GRCm39)	D103G	possibly damaging	Het
Gon4l	A	G	3: 88,765,710 (GRCm39)	D377G	probably damaging	Het
Gramd1c	C	T	16: 43,818,196 (GRCm39)	R328K	possibly damaging	Het
Hdac3	A	G	18: 38,074,806 (GRCm39)	S312P	probably damaging	Het
Hmcn2	T	C	2: 31,328,343 (GRCm39)		probably null	Het
Intu	T	C	3: 40,629,776 (GRCm39)		probably null	Het
Lnpk	T	C	2: 74,381,409 (GRCm39)	K118R	probably damaging	Het
Lzts3	A	C	2: 130,476,688 (GRCm39)	*587G	probably null	Het
Mctp2	C	T	7: 71,896,855 (GRCm39)		probably null	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Morc3	G	A	16: 93,629,094 (GRCm39)		probably null	Het
Mymk	C	T	2: 26,952,262 (GRCm39)	A161T	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Neb	T	C	2: 52,133,859 (GRCm39)	S3375G	probably damaging	Het
Nedd1	T	C	10: 92,534,745 (GRCm39)	D255G	probably benign	Het
Nid2	T	C	14: 19,852,400 (GRCm39)		probably benign	Het
Nr1d2	A	G	14: 18,215,502 (GRCm38)		probably benign	Het
Nus1	A	G	10: 52,294,094 (GRCm39)	H86R	possibly damaging	Het
Or5b118	A	T	19: 13,449,065 (GRCm39)	I244F	probably benign	Het
Or7g17	A	G	9: 18,768,325 (GRCm39)	I135V	probably damaging	Het
Plcxd2	A	T	16: 45,785,542 (GRCm39)		probably null	Het
Prdm9	T	A	17: 15,764,275 (GRCm39)	D835V	probably benign	Het
Prdm9	A	G	17: 15,764,297 (GRCm39)	W828R	probably benign	Het
Prkd2	T	C	7: 16,582,969 (GRCm39)	S244P	probably benign	Het
Psmd4	A	T	3: 94,940,234 (GRCm39)	L159H	probably damaging	Het
Qprt	C	T	7: 126,707,543 (GRCm39)	G215E	probably damaging	Het
Rab3gap2	C	A	1: 184,982,104 (GRCm39)	H385Q	possibly damaging	Het
Rapgef5	A	G	12: 117,652,411 (GRCm39)	D300G	probably benign	Het
Rbl1	A	T	2: 157,001,605 (GRCm39)	N894K	probably benign	Het
Rgma	C	T	7: 73,067,302 (GRCm39)	R280W	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rundc3a	T	A	11: 102,289,071 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,318,075 (GRCm39)	D496E	probably benign	Het
Scn9a	T	C	2: 66,363,437 (GRCm39)	Y936C	probably damaging	Het
Sdk1	A	G	5: 142,159,564 (GRCm39)		probably benign	Het
Serpinb9	G	A	13: 33,194,705 (GRCm39)	D154N	probably benign	Het
Slc48a1	A	T	15: 97,688,555 (GRCm39)	H131L	possibly damaging	Het
Slco1a6	T	C	6: 142,048,848 (GRCm39)	N311D	probably benign	Het
Sorl1	A	G	9: 41,979,229 (GRCm39)	V423A	probably damaging	Het
Srrm2	C	A	17: 24,034,103 (GRCm39)		probably benign	Het
Srsf12	A	T	4: 33,226,117 (GRCm39)	S122C	probably damaging	Het
Suclg2	G	C	6: 95,452,154 (GRCm39)		probably benign	Het
Tbpl1	A	T	10: 22,583,523 (GRCm39)	L149*	probably null	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem63a	T	C	1: 180,782,363 (GRCm39)		probably benign	Het
Tut1	C	T	19: 8,942,847 (GRCm39)	R645*	probably null	Het
Ubqln4	T	A	3: 88,462,686 (GRCm39)	D50E	probably benign	Het
Ubr5	A	G	15: 38,004,919 (GRCm39)	S1227P	probably damaging	Het
Vipas39	A	G	12: 87,297,285 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps26b	G	A	9: 26,924,101 (GRCm39)	T214I	probably benign	Het
Xpc	A	G	6: 91,481,717 (GRCm39)		probably benign	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
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
R7426:Mmp23	UTSW	4	155,736,041 (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'- ACATTCAGATGGGCAGAGACTGGC -3'
(R):5'- GGAACATGACCTTCCACTGTGGAC -3'

Sequencing Primer
(F):5'- AGAGACTGGCCTTCCCTC -3'
(R):5'- TTCCACTGTGGACAGAAGATCC -3'

Posted On

2013-04-16