Mutagenetix > Incidental Mutation

Incidental Mutation 'R5884:Matn4'

454553

Institutional Source

Beutler Lab

Gene Symbol

Matn4

Ensembl Gene

ENSMUSG00000016995

Gene Name

matrilin 4

Synonyms

matrilin-4

MMRRC Submission

044087-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5884 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

164231313-164247080 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to T at 164246528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably benign
Transcript: ENSMUST00000103103

SMART Domains

Protein: ENSMUSP00000099392
Gene: ENSMUSG00000016995

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

probably benign
Transcript: ENSMUST00000103104

SMART Domains

Protein: ENSMUSP00000099393
Gene: ENSMUSG00000016995

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 benign
Transcript: ENSMUST00000109358

SMART Domains

Protein: ENSMUSP00000104982
Gene: ENSMUSG00000016995

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 benign
Transcript: ENSMUST00000109359

SMART Domains

Protein: ENSMUSP00000104983
Gene: ENSMUSG00000016995

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 95.6%
20x: 82.8%

Validation Efficiency

96% (66/69)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp5	T	C	9: 75,805,836 (GRCm39)	M446T	probably damaging	Het
Cacna1g	C	T	11: 94,328,693 (GRCm39)	A1052T	probably damaging	Het
Cand1	C	T	10: 119,049,670 (GRCm39)	A359T	possibly damaging	Het
Ccne2	A	T	4: 11,199,411 (GRCm39)	T271S	probably benign	Het
Cep112	A	G	11: 108,461,142 (GRCm39)	T546A	probably damaging	Het
Ces1g	A	G	8: 94,033,558 (GRCm39)	S455P	probably benign	Het
Dnah11	A	T	12: 118,141,269 (GRCm39)	C496S	probably benign	Het
Dtx3l	C	G	16: 35,752,603 (GRCm39)	E668Q	probably benign	Het
Dysf	T	A	6: 84,163,063 (GRCm39)	F1579I	probably damaging	Het
Emx2	T	G	19: 59,452,461 (GRCm39)	D248E	probably damaging	Het
Eri2	A	C	7: 119,371,552 (GRCm39)	*275E	probably null	Het
F5	G	A	1: 164,023,215 (GRCm39)	R1591H	probably benign	Het
Fabp3	A	G	4: 130,206,131 (GRCm39)	T41A	probably benign	Het
Fam89a	C	T	8: 125,478,508 (GRCm39)	R14H	probably damaging	Het
Gbe1	T	A	16: 70,325,763 (GRCm39)		probably null	Het
Golga3	A	G	5: 110,364,761 (GRCm39)	E1211G	probably damaging	Het
Gpa33	T	C	1: 165,980,329 (GRCm39)	S131P	probably damaging	Het
Hyal6	T	C	6: 24,743,368 (GRCm39)	Y355H	probably damaging	Het
Ide	A	T	19: 37,249,552 (GRCm39)		probably null	Het
Ighv5-21	A	T	12: 114,283,806 (GRCm39)		probably benign	Het
Iglc1	A	T	16: 18,880,741 (GRCm39)		probably benign	Het
Impa1	A	T	3: 10,381,284 (GRCm39)	N199K	probably damaging	Het
Irx5	A	C	8: 93,087,258 (GRCm39)	T397P	possibly damaging	Het
Lonp2	A	G	8: 87,368,254 (GRCm39)	Y356C	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Nav2	T	A	7: 49,246,917 (GRCm39)	Y2147*	probably null	Het
Nek5	C	T	8: 22,578,817 (GRCm39)		probably null	Het
Omt2b	A	G	9: 78,235,839 (GRCm39)	M55V	probably benign	Het
Or5d37	A	G	2: 87,924,140 (GRCm39)	Y47H	probably damaging	Het
Or6z1	C	A	7: 6,504,842 (GRCm39)	V128L	probably benign	Het
Or9g8	T	A	2: 85,607,399 (GRCm39)	I157K	probably damaging	Het
Parp4	T	A	14: 56,852,207 (GRCm39)	H796Q	probably damaging	Het
Pex2	T	C	3: 5,626,359 (GRCm39)	E150G	probably benign	Het
Poglut2	T	C	1: 44,156,260 (GRCm39)	N109S	probably benign	Het
Psmb2	T	A	4: 126,578,014 (GRCm39)	V64E	possibly damaging	Het
Psmd6	C	T	14: 14,116,526 (GRCm38)	R63H	probably damaging	Het
Ptprd	A	G	4: 75,900,927 (GRCm39)	Y1061H	probably damaging	Het
Rab23	A	G	1: 33,763,967 (GRCm39)		probably benign	Het
Rad51ap2	GAAAAGGAAACTATTTAAAA	GAAAA	12: 11,507,534 (GRCm39)		probably benign	Het
Reg1	C	T	6: 78,405,200 (GRCm39)	S141L	possibly damaging	Het
Rock1	A	T	18: 10,099,361 (GRCm39)	I680K	probably benign	Het
Sez6l2	A	G	7: 126,569,328 (GRCm39)		probably benign	Het
Slc34a2	A	T	5: 53,226,722 (GRCm39)	Q615L	possibly damaging	Het
Slu7	A	G	11: 43,334,245 (GRCm39)	K424E	probably benign	Het
Tctn2	A	T	5: 124,741,895 (GRCm39)		noncoding transcript	Het
Tmem87a	T	A	2: 120,234,605 (GRCm39)		probably benign	Het
Trappc4	A	G	9: 44,315,385 (GRCm39)	F198L	probably damaging	Het
Usp33	C	T	3: 152,073,967 (GRCm39)	T271I	probably benign	Het
Vmn1r15	T	A	6: 57,235,993 (GRCm39)	I287K	probably damaging	Het
Vmn2r75	A	C	7: 85,814,578 (GRCm39)	I305R	probably benign	Het
Wdr26	T	C	1: 181,015,106 (GRCm39)		probably benign	Het
Zzz3	T	C	3: 152,156,295 (GRCm39)	S684P	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
R2022: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
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'- AGGCTGTTAAGACTTGTCCC -3'
(R):5'- TCCAGCTGTAGCCCAATTCC -3'

Sequencing Primer
(F):5'- AAGACTTGTCCCCCTACGG -3'
(R):5'- CCAATTCCGGCCCGCAG -3'

Posted On

2017-02-10