Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Matr3'

253802

Institutional Source

Beutler Lab

Gene Symbol

Matr3

Ensembl Gene

ENSMUSG00000037236

Gene Name

matrin 3

Synonyms

2810017I02Rik, D030046F20Rik, 1110061A14Rik

MMRRC Submission

040459-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R2871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35562146-35593835 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35572296 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 91 (S91R)

Ref Sequence

ENSEMBL: ENSMUSP00000140846 (fasta)

Gene Model

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

AlphaFold

Q8K310

Predicted Effect

probably benign
Transcript: ENSMUST00000166793
AA Change: S91R

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125761
Gene: ENSMUSG00000037236
AA Change: S91R

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

noncoding transcript
Transcript: ENSMUST00000186295

Predicted Effect

probably benign
Transcript: ENSMUST00000186614
AA Change: S91R

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141189
Gene: ENSMUSG00000037236
AA Change: S91R

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 benign
Transcript: ENSMUST00000187389
AA Change: S91R

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139745
Gene: ENSMUSG00000037236
AA Change: S91R

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

noncoding transcript
Transcript: ENSMUST00000187980

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
AA Change: S91R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140148
Gene: ENSMUSG00000037236
AA Change: S91R

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 benign
Transcript: ENSMUST00000189039

SMART Domains

Protein: ENSMUSP00000139525
Gene: ENSMUSG00000037236

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 benign
Transcript: ENSMUST00000190029
AA Change: S91R

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140846
Gene: ENSMUSG00000037236
AA Change: S91R

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

noncoding transcript
Transcript: ENSMUST00000190570

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193225

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: 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: 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

Meta Mutation Damage Score

0.0671

Coding Region Coverage

1x: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176	C811R	possibly damaging	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Akap8l	G	A	17: 32,338,442	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,022,260		probably null	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cfap54	A	T	10: 92,921,419	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,664,644		probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eml5	C	T	12: 98,865,401	D433N	probably damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Het
Gm813	A	T	16: 58,613,979	I125K	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,357,929	Q127K	probably benign	Het
Hdhd2	T	C	18: 76,955,006	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmcn1	A	T	1: 150,738,716	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,588,498	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,434,813	R520S	probably benign	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Het
Kpna7	T	C	5: 144,993,935	T367A	probably benign	Het
Lpo	A	G	11: 87,816,524	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,452,723	I532V	probably benign	Het
Mki67	G	A	7: 135,708,149	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,255,565	L1292I	probably damaging	Het
Msh2	C	A	17: 87,685,584	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,710,243	Q40*	probably null	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Npas3	C	T	12: 54,068,013	R542*	probably null	Het
Olfr1101	A	T	2: 86,988,848	C109*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Olfr45	A	G	7: 140,691,285	I127V	possibly damaging	Het
Olfr71	C	A	4: 43,706,458	V37L	probably benign	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Pkp4	C	A	2: 59,308,156	T250K	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055	T116S	probably damaging	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,210,405	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,899,569	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,559,019	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	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
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
R7156:Matr3	UTSW	18	35572921	missense	probably damaging	0.98
R7228:Matr3	UTSW	18	35562484	missense	unknown
R7389:Matr3	UTSW	18	35584585	missense	probably benign
R8940:Matr3	UTSW	18	35572587	missense	probably damaging	0.98
R9071:Matr3	UTSW	18	35572750	missense	possibly damaging	0.94
R9159:Matr3	UTSW	18	35579302	missense	possibly damaging	0.71
R9205:Matr3	UTSW	18	35587721	missense	probably benign	0.08
R9587:Matr3	UTSW	18	35584823	missense	probably null	0.13

Predicted Primers

PCR Primer
(F):5'- ATAGGCCTTCTTGCTGCTGC -3'
(R):5'- CATAACTCAATGTAGGGCCTTCTTC -3'

Sequencing Primer
(F):5'- GCTACCCAGTCTTTAAGTATGCCAG -3'
(R):5'- AATGTAGGGCCTTCTTCAGTTC -3'

Posted On

2014-12-04