Mutagenetix > Incidental Mutations

Incidental Mutation 'R7156:Matr3'

557343

Institutional Source

Beutler Lab

Gene Symbol

Matr3

Ensembl Gene

ENSMUSG00000037236

Gene Name

matrin 3

Synonyms

2810017I02Rik, D030046F20Rik, 1110061A14Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R7156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35562146-35593835 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35572921 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 300 (V300F)

Ref Sequence

ENSEMBL: ENSMUSP00000125761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166793] [ENSMUST00000186292] [ENSMUST00000186614] [ENSMUST00000186796] [ENSMUST00000187389] [ENSMUST00000187513] [ENSMUST00000187543] [ENSMUST00000187793] [ENSMUST00000188275] [ENSMUST00000188359] [ENSMUST00000188767] [ENSMUST00000189039] [ENSMUST00000189163] [ENSMUST00000190029] [ENSMUST00000190121] [ENSMUST00000190458] [ENSMUST00000190653]

PDB Structure

Solution structure of RRM domain in Matrin 3 [SOLUTION NMR]
Solution structure of the second RRM domain in Matrin 3 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000166793
AA Change: V300F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125761
Gene: ENSMUSG00000037236
AA Change: V300F

Domain	Start	End	E-Value	Type
low complexity region	23	32	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
low complexity region	69	85	N/A	INTRINSIC
ZnF_U1	288	322	4.47e-6	SMART
ZnF_C2H2	291	315	2.12e1	SMART
low complexity region	351	361	N/A	INTRINSIC
low complexity region	371	386	N/A	INTRINSIC
RRM	399	469	7.74e-3	SMART
RRM	497	567	5.63e-9	SMART
low complexity region	650	675	N/A	INTRINSIC
low complexity region	710	718	N/A	INTRINSIC
ZnF_U1	797	832	1.87e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186292

SMART Domains

Protein: ENSMUSP00000139437
Gene: ENSMUSG00000037236

Domain	Start	End	E-Value	Type
low complexity region	23	32	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000186614
AA Change: V300F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141189
Gene: ENSMUSG00000037236
AA Change: V300F

Domain	Start	End	E-Value	Type
low complexity region	23	32	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
low complexity region	69	85	N/A	INTRINSIC
ZnF_U1	288	322	2.6e-8	SMART
ZnF_C2H2	291	315	8.8e-2	SMART
low complexity region	351	361	N/A	INTRINSIC
low complexity region	371	386	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186796

SMART Domains

Protein: ENSMUSP00000140128
Gene: ENSMUSG00000037236

Domain	Start	End	E-Value	Type
low complexity region	13	23	N/A	INTRINSIC
low complexity region	33	48	N/A	INTRINSIC
RRM	61	131	3.2e-5	SMART
RRM	159	229	2.4e-11	SMART
low complexity region	312	337	N/A	INTRINSIC
low complexity region	372	380	N/A	INTRINSIC
ZnF_U1	459	494	1.1e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000187389
AA Change: V300F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139745
Gene: ENSMUSG00000037236
AA Change: V300F

Domain	Start	End	E-Value	Type
low complexity region	23	32	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
low complexity region	69	85	N/A	INTRINSIC
ZnF_U1	288	322	4.47e-6	SMART
ZnF_C2H2	291	315	2.12e1	SMART
low complexity region	351	361	N/A	INTRINSIC
low complexity region	371	386	N/A	INTRINSIC
RRM	399	469	7.74e-3	SMART
RRM	497	567	5.63e-9	SMART
low complexity region	650	675	N/A	INTRINSIC
low complexity region	710	718	N/A	INTRINSIC
ZnF_U1	797	832	1.87e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187513

SMART Domains

Protein: ENSMUSP00000139875
Gene: ENSMUSG00000099703

Domain	Start	End	E-Value	Type
low complexity region	23	32	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
low complexity region	69	85	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187543

Predicted Effect

probably benign
Transcript: ENSMUST00000187793

SMART Domains

Protein: ENSMUSP00000140047
Gene: ENSMUSG00000099703

Domain	Start	End	E-Value	Type
low complexity region	13	23	N/A	INTRINSIC
SCOP:d1lvk_2	42	78	4e-3	SMART
PDB:1X4D\|A	52	102	4e-30	PDB
Blast:RRM	61	102	1e-22	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000188275

SMART Domains

Protein: ENSMUSP00000140401
Gene: ENSMUSG00000037236

Domain	Start	End	E-Value	Type
low complexity region	63	73	N/A	INTRINSIC
low complexity region	83	98	N/A	INTRINSIC
RRM	111	181	3.2e-5	SMART
RRM	209	279	2.4e-11	SMART
low complexity region	362	387	N/A	INTRINSIC
low complexity region	422	430	N/A	INTRINSIC
ZnF_U1	509	544	1.1e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188359

SMART Domains

Protein: ENSMUSP00000140148
Gene: ENSMUSG00000037236

Domain	Start	End	E-Value	Type
low complexity region	23	32	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
low complexity region	69	85	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188767

SMART Domains

Protein: ENSMUSP00000141027
Gene: ENSMUSG00000037236

Domain	Start	End	E-Value	Type
low complexity region	13	23	N/A	INTRINSIC
low complexity region	33	48	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189039
AA Change: V48F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139525
Gene: ENSMUSG00000037236
AA Change: V48F

Domain	Start	End	E-Value	Type
ZnF_U1	36	70	2.6e-8	SMART
ZnF_C2H2	39	63	8.8e-2	SMART
low complexity region	99	109	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189163

Predicted Effect

probably damaging
Transcript: ENSMUST00000190029
AA Change: V300F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140846
Gene: ENSMUSG00000037236
AA Change: V300F

Domain	Start	End	E-Value	Type
low complexity region	23	32	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
low complexity region	69	85	N/A	INTRINSIC
ZnF_U1	288	322	4.47e-6	SMART
ZnF_C2H2	291	315	2.12e1	SMART
low complexity region	351	361	N/A	INTRINSIC
low complexity region	371	386	N/A	INTRINSIC
RRM	399	469	7.74e-3	SMART
RRM	497	567	5.63e-9	SMART
low complexity region	650	675	N/A	INTRINSIC
low complexity region	710	718	N/A	INTRINSIC
ZnF_U1	797	832	1.87e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190121

SMART Domains

Protein: ENSMUSP00000140853
Gene: ENSMUSG00000037236

Domain	Start	End	E-Value	Type
low complexity region	13	23	N/A	INTRINSIC
low complexity region	33	48	N/A	INTRINSIC
RRM	61	131	3.2e-5	SMART
RRM	159	229	2.4e-11	SMART
low complexity region	312	337	N/A	INTRINSIC
low complexity region	372	380	N/A	INTRINSIC
ZnF_U1	459	494	1.1e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190458

SMART Domains

Protein: ENSMUSP00000139922
Gene: ENSMUSG00000099703

Domain	Start	End	E-Value	Type
low complexity region	23	32	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190653

SMART Domains

Protein: ENSMUSP00000141135
Gene: ENSMUSG00000037236

Domain	Start	End	E-Value	Type
low complexity region	13	23	N/A	INTRINSIC
low complexity region	33	48	N/A	INTRINSIC
RRM	61	131	3.2e-5	SMART
RRM	159	229	2.4e-11	SMART
low complexity region	312	337	N/A	INTRINSIC
low complexity region	372	380	N/A	INTRINSIC
ZnF_U1	459	494	1.1e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (81/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a gene-trapped allele are early embryonic lethal. Heterozygotes show congenital heart defects including abnormal heart apex morphology, subaortic ventricular septal defects, double-outlet right ventricle, bicuspid aortic valve, aorta coarctation, and patent ductus arteriosus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	C	7: 40,993,858	I317T	possibly damaging	Het
4931406P16Rik	G	T	7: 34,245,708	N582K	possibly damaging	Het
4931409K22Rik	C	T	5: 24,552,650	E150K	probably benign	Het
Acsl5	G	A	19: 55,268,828		probably null	Het
Ahrr	G	A	13: 74,229,916	T136I	probably damaging	Het
AI597479	G	A	1: 43,111,101	D124N	probably damaging	Het
Arap2	G	T	5: 62,604,571	A1604D	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Cadps2	T	C	6: 23,688,956	N118S	probably benign	Het
Caskin1	T	A	17: 24,500,683		probably null	Het
Cc2d1a	C	T	8: 84,135,760	V684M	possibly damaging	Het
Ccdc91	T	C	6: 147,534,178	S87P	possibly damaging	Het
Cdr2l	A	G	11: 115,390,966	Q99R	probably benign	Het
Celsr3	T	C	9: 108,838,004	L2066P	possibly damaging	Het
Cep95	A	C	11: 106,809,224	L313F	possibly damaging	Het
Chst10	G	A	1: 38,874,007	T63M	probably damaging	Het
Clrn2	G	A	5: 45,453,916	G36R	probably damaging	Het
Cnn2	T	G	10: 79,994,515	Y273*	probably null	Het
Crtap	T	C	9: 114,378,096	T365A	probably benign	Het
D630045J12Rik	T	C	6: 38,195,029	T735A	possibly damaging	Het
Disp2	C	T	2: 118,791,811	A1008V	probably damaging	Het
Dmrt3	A	G	19: 25,610,953	D52G	probably damaging	Het
Dmrta1	T	G	4: 89,688,463	L52R	probably damaging	Het
Dmrta2	A	G	4: 109,981,988	T311A	probably damaging	Het
Dnm1	T	A	2: 32,340,467	N112Y	probably damaging	Het
Dysf	T	C	6: 84,087,876		probably null	Het
Ep400	A	G	5: 110,685,363	F2034L	unknown	Het
F12	G	A	13: 55,418,497	A494V	probably damaging	Het
Fbp2	A	T	13: 62,841,861	F210L	probably benign	Het
Fbxo31	T	A	8: 121,554,321	Q362L	possibly damaging	Het
Fkbp4	C	T	6: 128,435,824	A95T	probably benign	Het
Frmd6	T	G	12: 70,877,209	C80W	probably damaging	Het
Fsip2	A	G	2: 82,982,741	I3135V	probably benign	Het
Gm597	A	T	1: 28,776,767	M728K	possibly damaging	Het
Guca2b	T	A	4: 119,657,690	E34V	probably damaging	Het
Hdlbp	G	A	1: 93,413,915	T974I	probably damaging	Het
Hsdl2	T	A	4: 59,617,653	M460K	possibly damaging	Het
Ift172	C	T	5: 31,272,075	V581M	probably damaging	Het
Ift74	A	G	4: 94,660,952	K313R	possibly damaging	Het
Ints4	T	A	7: 97,535,286		probably null	Het
Kif21b	A	C	1: 136,147,824	T230P	probably damaging	Het
Kit	A	T	5: 75,615,374	Y272F	probably benign	Het
Krt77	G	A	15: 101,865,496	T241M	probably benign	Het
Lce1j	T	A	3: 92,789,184	S96C	unknown	Het
Marveld3	T	A	8: 109,948,188	D332V	probably damaging	Het
Mical1	T	A	10: 41,485,257		probably null	Het
Mslnl	T	A	17: 25,743,210	V194E	probably benign	Het
Mug1	C	A	6: 121,880,905	T1119K	probably damaging	Het
Mug1	C	T	6: 121,884,343	P1308S	probably damaging	Het
Neb	C	A	2: 52,305,283		probably null	Het
Neo1	T	A	9: 58,902,923	T1082S	probably damaging	Het
Nkx6-2	C	T	7: 139,582,129		probably null	Het
Olfr1065	T	A	2: 86,445,308	I225L	probably damaging	Het
Olfr981	T	C	9: 40,023,230	I279T	probably benign	Het
Orc1	A	T	4: 108,595,459	E177V	probably benign	Het
Parp1	G	A	1: 180,599,064	V924I	possibly damaging	Het
Pax2	A	T	19: 44,788,859	I165F	probably benign	Het
Pnma2	C	T	14: 66,916,531	P135S	probably benign	Het
Ranbp17	A	G	11: 33,297,420	I718T	probably damaging	Het
Rbm25	T	A	12: 83,664,191	D359E	unknown	Het
Rgs3	T	C	4: 62,617,126	L194P	probably damaging	Het
Serpinb6b	A	G	13: 32,971,615	I104V	probably benign	Het
Smg9	A	G	7: 24,420,861	D420G	probably benign	Het
Smpd1	C	T	7: 105,554,486		probably benign	Het
Snx17	T	A	5: 31,197,348	M318K	probably damaging	Het
Stard10	G	A	7: 101,346,051	D337N	probably damaging	Het
Tex14	A	G	11: 87,484,719	T103A	probably damaging	Het
Tle1	A	G	4: 72,170,716	S97P	probably benign	Het
Tnfrsf8	T	A	4: 145,315,084	M1L	unknown	Het
Traf3ip2	T	C	10: 39,626,177	L107P	possibly damaging	Het
Trpc7	A	T	13: 56,789,766	S626T	possibly damaging	Het
Ubl7	T	A	9: 57,929,756	I350N	probably damaging	Het
Ubr3	T	A	2: 70,021,623	I1878N	probably damaging	Het
Usp24	G	T	4: 106,387,919		probably null	Het
Vcan	A	T	13: 89,689,110	S2772T	possibly damaging	Het
Vmn2r79	T	C	7: 87,037,643	V744A	probably damaging	Het
Wbp2nl	T	C	15: 82,305,702	S32P	probably damaging	Het
Wwc1	A	G	11: 35,897,374		probably null	Het
Zfp629	C	T	7: 127,612,291	W115*	probably null	Het

Other mutations in Matr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Matr3	APN	18	35588389	missense	probably damaging	1.00
IGL03083:Matr3	APN	18	35572418	missense	probably damaging	0.96
IGL03117:Matr3	APN	18	35572657	missense	probably damaging	1.00
IGL03163:Matr3	APN	18	35572591	missense	probably damaging	0.99
IGL03381:Matr3	APN	18	35579025	splice site	probably benign
R0456:Matr3	UTSW	18	35572864	missense	probably damaging	1.00
R1136:Matr3	UTSW	18	35572895	missense	probably damaging	1.00
R1459:Matr3	UTSW	18	35584656	missense	probably benign	0.28
R1850:Matr3	UTSW	18	35582057	missense	probably damaging	1.00
R1929:Matr3	UTSW	18	35588325	splice site	probably benign
R2185:Matr3	UTSW	18	35581225	missense	probably damaging	1.00
R2366:Matr3	UTSW	18	35588395	missense	probably damaging	1.00
R2870:Matr3	UTSW	18	35572296	missense	probably benign	0.25
R2870:Matr3	UTSW	18	35572296	missense	probably benign	0.25
R2871:Matr3	UTSW	18	35572296	missense	probably benign	0.25
R2871:Matr3	UTSW	18	35572296	missense	probably benign	0.25
R2872:Matr3	UTSW	18	35572296	missense	probably benign	0.25
R2872:Matr3	UTSW	18	35572296	missense	probably benign	0.25
R2873:Matr3	UTSW	18	35572296	missense	probably benign	0.25
R3908:Matr3	UTSW	18	35572841	missense	probably damaging	1.00
R4400:Matr3	UTSW	18	35583916	missense	possibly damaging	0.80
R4417:Matr3	UTSW	18	35572118	missense	probably damaging	1.00
R4860:Matr3	UTSW	18	35581640	missense	probably damaging	1.00
R4860:Matr3	UTSW	18	35581640	missense	probably damaging	1.00
R4881:Matr3	UTSW	18	35572375	missense	probably damaging	1.00
R4908:Matr3	UTSW	18	35572701	missense	probably damaging	0.96
R5084:Matr3	UTSW	18	35582082	missense	probably damaging	0.99
R5660:Matr3	UTSW	18	35572094	missense	probably damaging	0.99
R5709:Matr3	UTSW	18	35581962	missense	probably damaging	1.00
R5779:Matr3	UTSW	18	35584522	missense	possibly damaging	0.81
R5876:Matr3	UTSW	18	35587738	missense	probably benign
R6392:Matr3	UTSW	18	35584841	missense	probably benign	0.07
R7062:Matr3	UTSW	18	35579019	critical splice donor site	probably null
R7228:Matr3	UTSW	18	35562484	missense	unknown
R7389:Matr3	UTSW	18	35584585	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTGAGACCTCGCATAACTATC -3'
(R):5'- ACAGCTTTGTGGCAAGAAGC -3'

Sequencing Primer
(F):5'- CCCCTTACAAGAGAGATCTCT -3'
(R):5'- GCCCTGGTTTATATTGTTCAAAAAC -3'

Posted On

2019-06-26