Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01745:Matn4'

153003

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Matn4

Ensembl Gene

ENSMUSG00000016995

Gene Name

matrilin 4

Synonyms

matrilin-4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01745

Quality Score

Status

Chromosome

Chromosomal Location

164231313-164247080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164242663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 145 (V145A)

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: V145A

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

SMART Domains

Protein: ENSMUSP00000099392
Gene: ENSMUSG00000016995
AA Change: V145A

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: V145A

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

SMART Domains

Protein: ENSMUSP00000099393
Gene: ENSMUSG00000016995
AA Change: V145A

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

possibly damaging
Transcript: ENSMUST00000109358
AA Change: V145A

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104982
Gene: ENSMUSG00000016995
AA Change: V145A

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: V145A

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

SMART Domains

Protein: ENSMUSP00000104983
Gene: ENSMUSG00000016995
AA Change: V145A

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

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc153	T	G	9: 44,154,408 (GRCm39)	S56R	possibly damaging	Het
Chct1	A	G	11: 85,063,696 (GRCm39)	T30A	probably benign	Het
D630045J12Rik	T	C	6: 38,168,655 (GRCm39)	K965E	probably damaging	Het
F2rl1	A	G	13: 95,650,261 (GRCm39)	V207A	probably benign	Het
Mllt6	T	G	11: 97,567,754 (GRCm39)	L757R	probably damaging	Het
Or2at4	A	G	7: 99,384,595 (GRCm39)	T82A	probably damaging	Het
Or5g26	T	C	2: 85,493,921 (GRCm39)	N286D	possibly damaging	Het
Or5m3b	T	A	2: 85,872,381 (GRCm39)	S241T	possibly damaging	Het
Prrc2c	A	G	1: 162,552,297 (GRCm39)	S30P	probably damaging	Het
Setd2	T	C	9: 110,423,779 (GRCm39)	V2278A	probably damaging	Het
Slco4a1	G	A	2: 180,106,472 (GRCm39)	C218Y	probably damaging	Het
Vps35	A	T	8: 86,000,092 (GRCm39)		probably benign	Het
Zfp593	A	G	4: 133,972,355 (GRCm39)	S82P	probably damaging	Het

Other mutations in Matn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-02-04