Mutagenetix > Incidental Mutation

Incidental Mutation 'R3946:Mmp23'

307698

Institutional Source

Beutler Lab

Gene Symbol

Mmp23

Ensembl Gene

ENSMUSG00000029061

Gene Name

matrix metallopeptidase 23

Synonyms

CA-MMP, cysteine array matrix metalloproteinase

MMRRC Submission

040827-MU

Accession Numbers

Ncbi RefSeq: NM_011985.2; MGI:1347361

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3946 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155650655-155653384 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155652023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 187 (Y187C)

Ref Sequence

ENSEMBL: ENSMUSP00000030937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030937] [ENSMUST00000067081] [ENSMUST00000103176] [ENSMUST00000105598] [ENSMUST00000105600] [ENSMUST00000141108]

AlphaFold

O88676

Predicted Effect

probably damaging
Transcript: ENSMUST00000030937
AA Change: Y187C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030937
Gene: ENSMUSG00000029061
AA Change: Y187C

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: ENSMUST00000139134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139788

Predicted Effect

probably benign
Transcript: ENSMUST00000141108

SMART Domains

Protein: ENSMUSP00000122269
Gene: ENSMUSG00000029060

Domain	Start	End	E-Value	Type
Pfam:MIB_HERC2	1	52	7.1e-17	PFAM
internal_repeat_1	82	150	7.77e-12	PROSPERO
internal_repeat_1	153	220	7.77e-12	PROSPERO
ANK	289	318	8.52e-4	SMART
ANK	322	351	6.71e-2	SMART
Pfam:Ank	356	375	2.9e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151843

Meta Mutation Damage Score

0.3993

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.1%

Validation Efficiency

98% (60/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	T	C	13: 64,309,098	I104V	probably damaging	Het
Abi2	A	G	1: 60,453,754	Q328R	probably damaging	Het
Agr3	C	A	12: 35,947,513		probably benign	Het
Brca2	T	A	5: 150,536,704	S481R	probably damaging	Het
Cabin1	T	G	10: 75,745,259	Q411P	probably damaging	Het
Calr3	A	G	8: 72,443,620	Y22H	probably damaging	Het
Caprin1	T	A	2: 103,796,766	I59F	probably damaging	Het
Cdk5rap1	T	C	2: 154,348,716	T442A	probably damaging	Het
Chn2	T	C	6: 54,269,426		probably benign	Het
Cic	C	A	7: 25,272,346	R501S	possibly damaging	Het
Coch	A	G	12: 51,601,812		probably null	Het
Defa25	G	A	8: 21,084,490	V17I	probably null	Het
Dglucy	T	C	12: 100,838,700		probably null	Het
Dtx1	T	G	5: 120,681,286	T616P	possibly damaging	Het
Eef1g	T	C	19: 8,969,977	L171P	probably benign	Het
Fam135a	A	G	1: 24,030,394	S465P	probably damaging	Het
Gm14025	A	G	2: 129,039,601	L135P	probably damaging	Het
Gm14412	A	T	2: 177,314,685	C472*	probably null	Het
Gm7104	T	C	12: 88,286,042		noncoding transcript	Het
Got2	A	G	8: 95,888,230	S26P	probably benign	Het
H2-M11	A	G	17: 36,549,231	I329M	probably damaging	Het
Hmcn2	T	A	2: 31,382,394	D1295E	possibly damaging	Het
Hoxd12	G	T	2: 74,675,427	R114L	probably damaging	Het
Ilkap	A	C	1: 91,387,250	D124E	probably damaging	Het
Med6	T	C	12: 81,581,851	Y88C	probably damaging	Het
Mep1a	A	T	17: 43,475,041	L719*	probably null	Het
Myo1g	A	G	11: 6,520,760	M32T	possibly damaging	Het
Ncstn	T	C	1: 172,067,494	E614G	probably benign	Het
Nr2c2	C	T	6: 92,163,138	R464W	probably damaging	Het
Olfr1309	G	A	2: 111,983,297	T259M	possibly damaging	Het
Otub2	T	A	12: 103,392,826	L58*	probably null	Het
Pcdhga12	G	A	18: 37,767,629	V505I	probably benign	Het
Pcdhga9	T	A	18: 37,737,844	V242D	probably damaging	Het
Pex1	C	T	5: 3,626,084	L891F	probably damaging	Het
Pgm1	C	T	5: 64,112,061	T497I	probably benign	Het
Pikfyve	T	C	1: 65,196,681	F171L	probably damaging	Het
Pilrb1	T	G	5: 137,857,392	K79T	probably benign	Het
Pin1	C	T	9: 20,655,364	R21W	probably damaging	Het
Ptprq	A	G	10: 107,686,392		probably benign	Het
Rad17	G	A	13: 100,622,863	A552V	possibly damaging	Het
Rbbp8	A	G	18: 11,718,868	T249A	probably benign	Het
Rtkn	A	T	6: 83,135,976	I10F	probably benign	Het
Scube2	T	A	7: 109,857,590	I103F	possibly damaging	Het
Sec23b	A	G	2: 144,581,973	H514R	probably benign	Het
Serbp1	T	A	6: 67,272,220	D223E	probably benign	Het
Slc14a1	C	A	18: 78,111,392	V260L	probably benign	Het
Slc22a23	A	G	13: 34,183,126	I633T	probably damaging	Het
Stk19	A	T	17: 34,824,747		probably benign	Het
Svs2	T	C	2: 164,237,127	M287V	probably benign	Het
Syne3	T	A	12: 104,958,066	Q358L	probably damaging	Het
Synj1	A	G	16: 91,010,096	F58L	possibly damaging	Het
Tg	T	C	15: 66,674,023	V198A	probably damaging	Het
Tle4	A	T	19: 14,597,388	Y9N	probably damaging	Het
Tmem57	A	G	4: 134,804,481	Y626H	probably damaging	Het
Tmx3	G	A	18: 90,524,335	A186T	possibly damaging	Het
Traf3	G	A	12: 111,255,245	S280N	possibly damaging	Het
Trmt13	A	G	3: 116,581,518	F447S	probably damaging	Het
Trp53bp1	T	A	2: 121,228,626	H918L	probably damaging	Het
Ush2a	T	G	1: 188,728,504	V2654G	probably benign	Het
Vmn2r25	A	G	6: 123,840,098	Y175H	probably damaging	Het
Zfp335	T	C	2: 164,892,189	D1330G	probably damaging	Het

Other mutations in Mmp23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Mmp23	APN	4	155651007	missense	possibly damaging	0.67
IGL02749:Mmp23	APN	4	155651532	missense	possibly damaging	0.65
R0030:Mmp23	UTSW	4	155651311	nonsense	probably null
R0173:Mmp23	UTSW	4	155650765	missense	possibly damaging	0.82
R0244:Mmp23	UTSW	4	155652132	missense	probably damaging	1.00
R1521:Mmp23	UTSW	4	155650717	missense	possibly damaging	0.92
R1696:Mmp23	UTSW	4	155650709	makesense	probably null
R1957:Mmp23	UTSW	4	155652052	missense	possibly damaging	0.96
R2055:Mmp23	UTSW	4	155651987	missense	possibly damaging	0.76
R4170:Mmp23	UTSW	4	155651310	missense	probably damaging	0.99
R5153:Mmp23	UTSW	4	155651340	missense	probably damaging	1.00
R5660:Mmp23	UTSW	4	155651253	missense	probably damaging	1.00
R6193:Mmp23	UTSW	4	155651533	missense	possibly damaging	0.90
R6480:Mmp23	UTSW	4	155652341	missense	probably damaging	1.00
R7426:Mmp23	UTSW	4	155651584	missense	probably damaging	1.00
R7979:Mmp23	UTSW	4	155652005	missense	possibly damaging	0.90
R9500:Mmp23	UTSW	4	155652110	missense	probably benign	0.17
R9545:Mmp23	UTSW	4	155651523	missense	probably benign	0.00
R9757:Mmp23	UTSW	4	155651058	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGAGACCCAGTGTTCCTC -3'
(R):5'- TCCCAGTGACCTCAAGATAGG -3'

Sequencing Primer
(F):5'- GAGACCCAGTGTTCCTCTTCCTTG -3'
(R):5'- TGGGTAACTGAAGAGCTCCC -3'

Posted On

2015-04-17