Mutagenetix > Incidental Mutation

Incidental Mutation 'R4839:Matn4'

371608

Institutional Source

Beutler Lab

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 #

R4839 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164231313-164247080 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 164242896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 67 (D67E)

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
AA Change: D67E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099392
Gene: ENSMUSG00000016995
AA Change: D67E

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
AA Change: D67E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099393
Gene: ENSMUSG00000016995
AA Change: D67E

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
AA Change: D67E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104982
Gene: ENSMUSG00000016995
AA Change: D67E

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
AA Change: D67E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104983
Gene: ENSMUSG00000016995
AA Change: D67E

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: 98.5%
10x: 96.8%
20x: 93.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,845 (GRCm39)	S467T	probably benign	Het
2310030G06Rik	A	T	9: 50,652,023 (GRCm39)	Y68*	probably null	Het
Abat	T	G	16: 8,401,512 (GRCm39)		probably benign	Het
Abca2	C	T	2: 25,330,921 (GRCm39)	S1203F	probably damaging	Het
Adam22	G	A	5: 8,186,813 (GRCm39)	P436L	probably damaging	Het
Ak3	A	C	19: 29,025,132 (GRCm39)	L33R	probably damaging	Het
Arhgap11a	A	T	2: 113,672,374 (GRCm39)	I198K	probably damaging	Het
Arl14epl	A	T	18: 47,065,544 (GRCm39)	K103M	possibly damaging	Het
Atg16l1	T	A	1: 87,693,896 (GRCm39)	N65K	probably damaging	Het
Btnl2	G	A	17: 34,584,260 (GRCm39)	W394*	probably null	Het
Cacna1e	C	A	1: 154,296,804 (GRCm39)	R1687L	probably damaging	Het
Cacna1g	G	T	11: 94,350,433 (GRCm39)	R471S	probably benign	Het
Cdh13	A	T	8: 119,578,587 (GRCm39)	R205*	probably null	Het
Cdkl3	A	T	11: 51,895,861 (GRCm39)	Y36F	probably damaging	Het
Cep290	T	A	10: 100,344,648 (GRCm39)	N488K	probably damaging	Het
Cep350	A	T	1: 155,804,240 (GRCm39)	C948S	probably benign	Het
Cep70	A	G	9: 99,178,138 (GRCm39)	K446R	probably benign	Het
Cfap70	T	C	14: 20,475,597 (GRCm39)	T375A	probably damaging	Het
Cfhr1	A	G	1: 139,487,871 (GRCm39)	L9S	probably damaging	Het
Chrm4	T	A	2: 91,757,952 (GRCm39)	M120K	probably damaging	Het
Col1a1	A	G	11: 94,840,921 (GRCm39)		probably null	Het
Col3a1	T	C	1: 45,362,963 (GRCm39)		probably null	Het
Csrnp3	A	T	2: 65,852,375 (GRCm39)	R256*	probably null	Het
Dbf4	T	A	5: 8,458,263 (GRCm39)	K190*	probably null	Het
Dnah10	A	T	5: 124,850,196 (GRCm39)	I1573F	probably damaging	Het
Dock8	A	G	19: 25,146,858 (GRCm39)	I1446V	probably benign	Het
Dst	G	T	1: 34,229,943 (GRCm39)	R2187M	probably damaging	Het
Ece2	C	T	16: 20,449,918 (GRCm39)	R257C	probably damaging	Het
Espn	A	G	4: 152,222,961 (GRCm39)	Y306H	probably damaging	Het
Fkbpl	G	A	17: 34,864,839 (GRCm39)	M202I	probably benign	Het
Fn1	A	G	1: 71,681,242 (GRCm39)	L362P	probably damaging	Het
Ganc	A	C	2: 120,290,304 (GRCm39)	R880S	probably benign	Het
Gucy1b2	A	T	14: 62,685,695 (GRCm39)	L90Q	probably damaging	Het
Hcn1	T	A	13: 118,062,246 (GRCm39)	I504N	unknown	Het
Hdac2	C	A	10: 36,873,462 (GRCm39)	T352K	probably benign	Het
Hip1	T	C	5: 135,455,172 (GRCm39)		probably null	Het
Hspa13	G	A	16: 75,562,169 (GRCm39)	S10L	probably damaging	Het
Ipo5	T	C	14: 121,157,450 (GRCm39)	I96T	probably benign	Het
Isl1	T	C	13: 116,438,220 (GRCm39)	Y264C	probably damaging	Het
Izumo1	T	C	7: 45,275,657 (GRCm39)	I322T	probably benign	Het
Kars1	A	C	8: 112,729,158 (GRCm39)	V183G	possibly damaging	Het
Lrrc15	C	A	16: 30,093,086 (GRCm39)	M84I	probably benign	Het
Magi1	A	T	6: 93,671,177 (GRCm39)	V796E	probably damaging	Het
Mertk	A	G	2: 128,624,496 (GRCm39)	M636V	probably damaging	Het
Mettl27	C	A	5: 134,963,266 (GRCm39)	P126T	probably damaging	Het
Mfrp	T	A	9: 44,013,432 (GRCm39)	H52Q	possibly damaging	Het
Mrgprb8	T	G	7: 48,038,656 (GRCm39)	I109R	probably benign	Het
Mroh2a	G	A	1: 88,165,666 (GRCm39)	G512S	probably damaging	Het
Ncoa7	T	A	10: 30,598,655 (GRCm39)	R89S	possibly damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nin	G	T	12: 70,137,325 (GRCm39)	H84N	possibly damaging	Het
Nwd2	A	T	5: 63,962,893 (GRCm39)	I826F	possibly damaging	Het
Or10d1	A	G	9: 39,484,441 (GRCm39)	M38T	probably benign	Het
Or14c43	T	C	7: 86,115,117 (GRCm39)	F166S	probably damaging	Het
Or1j11	G	A	2: 36,312,012 (GRCm39)	V201I	probably benign	Het
Or4l15	C	T	14: 50,197,646 (GRCm39)	M294I	probably benign	Het
Or52a5b	T	C	7: 103,416,961 (GRCm39)	I214M	possibly damaging	Het
Or5k3	A	G	16: 58,969,393 (GRCm39)	Y60C	probably damaging	Het
Or5p73	T	C	7: 108,064,938 (GRCm39)	S136P	probably benign	Het
Otof	C	T	5: 30,576,748 (GRCm39)	R168H	probably damaging	Het
Pcdha6	T	C	18: 37,101,485 (GRCm39)	V226A	possibly damaging	Het
Pggt1b	T	C	18: 46,391,166 (GRCm39)	I200V	possibly damaging	Het
Ppat	G	A	5: 77,098,811 (GRCm39)	Q41*	probably null	Het
Ppfibp2	A	T	7: 107,342,192 (GRCm39)	H27L	probably damaging	Het
Rbm27	T	A	18: 42,460,510 (GRCm39)	I775N	probably damaging	Het
Rnf40	C	T	7: 127,191,812 (GRCm39)	R349*	probably null	Het
Rtp3	A	T	9: 110,818,544 (GRCm39)	W46R	probably damaging	Het
Sass6	C	T	3: 116,403,949 (GRCm39)	R196W	probably damaging	Het
Sel1l	A	T	12: 91,799,932 (GRCm39)	D131E	probably benign	Het
Slain2	T	C	5: 73,106,066 (GRCm39)	S234P	probably damaging	Het
Slc47a1	C	T	11: 61,264,176 (GRCm39)		probably null	Het
Sp140	CAGAAGAAG	CAGAAG	1: 85,538,529 (GRCm39)		probably benign	Het
Spata31e2	T	C	1: 26,724,440 (GRCm39)	T247A	probably benign	Het
Spef2	A	T	15: 9,713,264 (GRCm39)	Y369*	probably null	Het
Spred2	T	A	11: 19,948,233 (GRCm39)	M76K	possibly damaging	Het
Svs5	T	A	2: 164,078,806 (GRCm39)	D367V	probably benign	Het
Tasor2	G	A	13: 3,634,807 (GRCm39)	P667S	probably damaging	Het
Tefm	A	T	11: 80,027,947 (GRCm39)	D270E	probably benign	Het
Tfcp2l1	C	A	1: 118,597,194 (GRCm39)	P425H	probably benign	Het
Thbd	A	T	2: 148,248,591 (GRCm39)	C426S	probably damaging	Het
Timm10b	T	A	7: 105,333,219 (GRCm39)	D968E	probably damaging	Het
Tle2	C	T	10: 81,413,518 (GRCm39)	T119I	probably damaging	Het
Tnik	T	A	3: 28,650,224 (GRCm39)	Y446N	possibly damaging	Het
Tpr	T	A	1: 150,324,948 (GRCm39)	L2400*	probably null	Het
Trrap	T	C	5: 144,782,402 (GRCm39)	F3328S	probably damaging	Het
Vldlr	G	A	19: 27,215,465 (GRCm39)	C154Y	probably damaging	Het
Vmn1r79	T	G	7: 11,910,361 (GRCm39)	M81R	probably benign	Het
Vps13d	T	C	4: 144,812,000 (GRCm39)	T3305A	possibly damaging	Het
Wdr62	T	C	7: 29,970,111 (GRCm39)	E232G	probably damaging	Het
Wdr62	T	A	7: 29,940,890 (GRCm39)	I843F	probably benign	Het
Zfp747l1	T	C	7: 126,984,179 (GRCm39)	S308G	probably benign	Het
Zfp873	T	A	10: 81,896,353 (GRCm39)	H361Q	probably damaging	Het
Zfp949	A	C	9: 88,452,047 (GRCm39)	H539P	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
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'- TGAAGGCCACGTTCATAGCG -3'
(R):5'- TGGGCACTGTTCCATTCAGATAAC -3'

Sequencing Primer
(F):5'- CACGTTCATAGCGTACTGGATCG -3'
(R):5'- TTCAGATAACAGCAGGTCTTCCGG -3'

Posted On

2016-03-01