Mutagenetix > Incidental Mutation

Incidental Mutation 'R2022:Matn4'

224084

Institutional Source

Beutler Lab

Gene Symbol

Matn4

Ensembl Gene

ENSMUSG00000016995

Gene Name

matrilin 4

Synonyms

matrilin-4

MMRRC Submission

040031-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2022 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164231313-164247080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164242573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 175 (V175A)

Ref Sequence

ENSEMBL: ENSMUSP00000104983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017151] [ENSMUST00000103103] [ENSMUST00000103104] [ENSMUST00000109358] [ENSMUST00000109359]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000017151

SMART Domains

Protein: ENSMUSP00000017151
Gene: ENSMUSG00000017007

Domain	Start	End	E-Value	Type
LAG1_DNAbind	66	204	4.58e-78	SMART
BTD	205	357	1.23e-83	SMART
SCOP:d1a02n1	383	475	3e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103103
AA Change: V175A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099392
Gene: ENSMUSG00000016995
AA Change: V175A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	34	209	8.6e-54	SMART
EGF	220	257	1.04e-3	SMART
EGF	261	298	3.43e-4	SMART
EGF	302	339	1.85e0	SMART
EGF	343	380	1.24e-1	SMART
VWA	386	564	6.72e-56	SMART
Matrilin_ccoil	574	621	2.39e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103104
AA Change: V175A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099393
Gene: ENSMUSG00000016995
AA Change: V175A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	34	209	8.6e-54	SMART
EGF	220	257	1.04e-3	SMART
EGF	261	298	3.43e-4	SMART
EGF	302	339	1.85e0	SMART
EGF	343	380	1.24e-1	SMART
VWA	386	564	6.72e-56	SMART
Matrilin_ccoil	574	621	2.39e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109356

Predicted Effect

probably damaging
Transcript: ENSMUST00000109358
AA Change: V175A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104982
Gene: ENSMUSG00000016995
AA Change: V175A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	34	209	8.6e-54	SMART
EGF	220	257	1.85e0	SMART
EGF	261	298	1.24e-1	SMART
VWA	304	482	6.72e-56	SMART
Matrilin_ccoil	492	539	2.39e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109359
AA Change: V175A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104983
Gene: ENSMUSG00000016995
AA Change: V175A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	34	209	8.6e-54	SMART
EGF	220	257	3.43e-4	SMART
EGF	261	298	1.85e0	SMART
EGF	302	339	1.24e-1	SMART
VWA	345	523	6.72e-56	SMART
Matrilin_ccoil	533	580	2.39e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154940

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of von Willebrand factor A domain-containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,078,954 (GRCm39)	C423*	probably null	Het
Akr1cl	T	A	1: 65,053,857 (GRCm39)	Y271F	probably benign	Het
Asnsd1	A	G	1: 53,386,386 (GRCm39)	S414P	possibly damaging	Het
Atp12a	T	A	14: 56,602,739 (GRCm39)	M1K	probably null	Het
Atp4b	A	C	8: 13,437,477 (GRCm39)	N225K	possibly damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Cactin	C	T	10: 81,158,727 (GRCm39)	T231I	possibly damaging	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc180	C	A	4: 45,944,418 (GRCm39)	H1423N	probably benign	Het
Cfap251	G	A	5: 123,411,853 (GRCm39)	G495D	probably benign	Het
Chd9	T	C	8: 91,761,682 (GRCm39)	Y2256H	probably benign	Het
Chst8	A	G	7: 34,374,589 (GRCm39)	Y417H	possibly damaging	Het
Clcn6	A	G	4: 148,095,109 (GRCm39)		probably null	Het
Clec5a	A	T	6: 40,562,128 (GRCm39)	V12E	probably damaging	Het
Crebbp	C	T	16: 3,903,683 (GRCm39)	R1852H	probably damaging	Het
Cyp2c40	T	A	19: 39,801,224 (GRCm39)		probably benign	Het
Dip2c	T	C	13: 9,601,836 (GRCm39)	L265P	probably damaging	Het
Dnah3	A	G	7: 119,550,465 (GRCm39)	Y3274H	probably damaging	Het
Dnah6	T	A	6: 73,004,405 (GRCm39)	T3853S	probably benign	Het
Dnttip2	T	C	3: 122,069,870 (GRCm39)	S362P	probably damaging	Het
Dst	G	A	1: 34,205,372 (GRCm39)	V1025I	possibly damaging	Het
Dym	T	C	18: 75,213,321 (GRCm39)	V181A	probably benign	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Elk3	T	A	10: 93,101,539 (GRCm39)	I71F	probably damaging	Het
Epb41l4a	C	T	18: 34,054,893 (GRCm39)	S65N	probably benign	Het
Erap1	T	A	13: 74,814,627 (GRCm39)	V451E	probably benign	Het
F830045P16Rik	T	A	2: 129,314,585 (GRCm39)	I231F	probably damaging	Het
Fahd1	T	C	17: 25,068,814 (GRCm39)	I88V	probably benign	Het
Fam120b	C	T	17: 15,644,638 (GRCm39)	T744I	possibly damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Gdap1l1	A	T	2: 163,289,517 (GRCm39)	T161S	probably benign	Het
Gm6309	C	T	5: 146,105,121 (GRCm39)	G264D	probably benign	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Ino80b	A	G	6: 83,101,353 (GRCm39)	M119T	probably damaging	Het
Kif3a	G	A	11: 53,461,408 (GRCm39)	V17M	probably damaging	Het
Krt40	T	A	11: 99,430,818 (GRCm39)	E285D	probably damaging	Het
Lair1	C	G	7: 4,066,063 (GRCm39)		probably null	Het
Lvrn	A	G	18: 46,999,503 (GRCm39)	T290A	possibly damaging	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Mok	A	T	12: 110,778,257 (GRCm39)	D216E	probably benign	Het
Muc15	A	T	2: 110,561,821 (GRCm39)	T86S	probably benign	Het
Myo16	A	G	8: 10,322,633 (GRCm39)	K21R	probably benign	Het
Ncl	A	G	1: 86,284,677 (GRCm39)		probably null	Het
Nfrkb	C	T	9: 31,322,546 (GRCm39)	T872I	probably benign	Het
Nhlrc2	A	T	19: 56,585,710 (GRCm39)	E648D	probably benign	Het
Nlrp9c	A	T	7: 26,084,221 (GRCm39)	Y453N	probably damaging	Het
Notch4	T	C	17: 34,806,502 (GRCm39)	L1813P	probably damaging	Het
Nrg3	T	A	14: 38,098,309 (GRCm39)	D515V	probably damaging	Het
Nsd1	T	C	13: 55,361,092 (GRCm39)	V20A	probably damaging	Het
Opn4	T	A	14: 34,319,028 (GRCm39)	T186S	probably benign	Het
Or9k2	T	C	10: 129,999,049 (GRCm39)	M49V	probably benign	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Phf11a	T	A	14: 59,532,363 (GRCm39)	E24V	possibly damaging	Het
Pigg	A	T	5: 108,460,788 (GRCm39)		probably benign	Het
Plscr2	A	G	9: 92,177,647 (GRCm39)	D136G	probably damaging	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm39)	I76V	probably benign	Het
Prdm6	A	G	18: 53,598,031 (GRCm39)		probably benign	Het
Prex1	A	G	2: 166,417,534 (GRCm39)	W1188R	possibly damaging	Het
Prmt2	T	A	10: 76,061,292 (GRCm39)	R65*	probably null	Het
Prom1	G	T	5: 44,187,068 (GRCm39)	D396E	probably benign	Het
Ptcd3	C	T	6: 71,862,537 (GRCm39)	C466Y	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Rab36	T	C	10: 74,888,306 (GRCm39)	I250T	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn11a	G	T	9: 119,640,274 (GRCm39)	A207E	possibly damaging	Het
Serpinb3d	A	G	1: 107,006,182 (GRCm39)	V302A	probably benign	Het
Slc22a16	T	C	10: 40,467,873 (GRCm39)	Y469H	probably damaging	Het
Smo	A	G	6: 29,754,715 (GRCm39)	N262D	possibly damaging	Het
Spata31e5	A	T	1: 28,817,234 (GRCm39)	V266D	probably damaging	Het
Sptan1	C	T	2: 29,897,573 (GRCm39)	A1212V	probably damaging	Het
Ssr1	C	T	13: 38,173,525 (GRCm39)	A79T	probably damaging	Het
Tiam1	T	A	16: 89,674,075 (GRCm39)	T479S	probably benign	Het
Tm9sf3	A	G	19: 41,227,231 (GRCm39)	F280S	probably damaging	Het
Tmem72	T	C	6: 116,673,800 (GRCm39)	H106R	probably damaging	Het
Tnr	A	G	1: 159,679,592 (GRCm39)	I189V	probably benign	Het
Tpbpa	T	A	13: 61,088,036 (GRCm39)	N50I	probably benign	Het
Tshz1	T	A	18: 84,031,987 (GRCm39)	Y807F	probably damaging	Het
Tspo2	C	T	17: 48,755,750 (GRCm39)	A131T	possibly damaging	Het
Usp16	T	C	16: 87,270,014 (GRCm39)	L322P	probably damaging	Het
Vmn1r185	A	G	7: 26,310,935 (GRCm39)	V190A	possibly damaging	Het
Vmn1r34	T	C	6: 66,614,385 (GRCm39)	K118E	possibly damaging	Het
Vmn1r68	A	G	7: 10,261,918 (GRCm39)	L60P	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,673,454 (GRCm39)	N171D	probably benign	Het
Vps51	T	C	19: 6,121,612 (GRCm39)	E162G	probably benign	Het
Yy1	CGGG	CGGGGGG	12: 108,759,916 (GRCm39)		probably benign	Het
Zdhhc4	C	T	5: 143,307,538 (GRCm39)	R161H	probably damaging	Het
Zfp456	A	T	13: 67,514,616 (GRCm39)	C363*	probably null	Het
Zfp541	T	A	7: 15,816,110 (GRCm39)	S866T	probably damaging	Het

Other mutations in Matn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01745:Matn4	APN	2	164,242,663 (GRCm39)	missense	probably damaging	0.97
IGL02188:Matn4	APN	2	164,242,786 (GRCm39)	missense	probably benign	0.00
IGL02195:Matn4	APN	2	164,242,972 (GRCm39)	missense	probably damaging	1.00
IGL02696:Matn4	APN	2	164,238,758 (GRCm39)	missense	probably benign	0.09
IGL02927:Matn4	APN	2	164,231,757 (GRCm39)	missense	probably damaging	1.00
R2021:Matn4	UTSW	2	164,242,573 (GRCm39)	missense	probably damaging	1.00
R2272:Matn4	UTSW	2	164,239,162 (GRCm39)	missense	possibly damaging	0.92
R2448:Matn4	UTSW	2	164,243,770 (GRCm39)	missense	probably benign	0.04
R4824:Matn4	UTSW	2	164,235,151 (GRCm39)	missense	probably benign	0.01
R4839:Matn4	UTSW	2	164,242,896 (GRCm39)	missense	probably benign	0.00
R5884:Matn4	UTSW	2	164,246,528 (GRCm39)	utr 5 prime	probably benign
R5914:Matn4	UTSW	2	164,235,144 (GRCm39)	missense	probably damaging	1.00
R6209:Matn4	UTSW	2	164,242,735 (GRCm39)	missense	probably damaging	1.00
R6995:Matn4	UTSW	2	164,231,584 (GRCm39)	nonsense	probably null
R7679:Matn4	UTSW	2	164,231,578 (GRCm39)	makesense	probably null
R8035:Matn4	UTSW	2	164,238,960 (GRCm39)	missense	probably damaging	0.99
R8117:Matn4	UTSW	2	164,241,682 (GRCm39)	missense	probably benign	0.05
R8117:Matn4	UTSW	2	164,234,851 (GRCm39)	missense	probably damaging	1.00
R8321:Matn4	UTSW	2	164,235,207 (GRCm39)	missense	probably damaging	1.00
R8861:Matn4	UTSW	2	164,234,825 (GRCm39)	missense
R9079:Matn4	UTSW	2	164,235,473 (GRCm39)	unclassified	probably benign
X0063:Matn4	UTSW	2	164,239,197 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAACTAGAATGAGCATCTGCATTG -3'
(R):5'- AGGACATGGAACGAGCCATC -3'

Sequencing Primer
(F):5'- AATGAGCATCTGCATTGCCTGAG -3'
(R):5'- ATGACCGGGCTGGCGATC -3'

Posted On

2014-08-25