Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Matr3'

698488

Institutional Source

Beutler Lab

Gene Symbol

Matr3

Ensembl Gene

ENSMUSG00000037236

Gene Name

matrin 3

Synonyms

2810017I02Rik, D030046F20Rik, 1110061A14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35562146-35593835 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35587721 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 746 (S746P)

Ref Sequence

ENSEMBL: ENSMUSP00000125761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166793] [ENSMUST00000186796] [ENSMUST00000187389] [ENSMUST00000188275] [ENSMUST00000188767] [ENSMUST00000190029] [ENSMUST00000190121] [ENSMUST00000190653]

AlphaFold

Q8K310

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 benign
Transcript: ENSMUST00000166793
AA Change: S746P

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125761
Gene: ENSMUSG00000037236
AA Change: S746P

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: ENSMUST00000186796
AA Change: S408P

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140128
Gene: ENSMUSG00000037236
AA Change: S408P

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: S746P

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139745
Gene: ENSMUSG00000037236
AA Change: S746P

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

possibly damaging
Transcript: ENSMUST00000188275
AA Change: S458P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140401
Gene: ENSMUSG00000037236
AA Change: S458P

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: 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: ENSMUST00000190029
AA Change: S746P

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140846
Gene: ENSMUSG00000037236
AA Change: S746P

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
AA Change: S408P

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140853
Gene: ENSMUSG00000037236
AA Change: S408P

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
AA Change: S408P

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000141135
Gene: ENSMUSG00000037236
AA Change: S408P

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: 99.9%
10x: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

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
Aebp2	T	A	6: 140,642,228	H341Q	probably damaging	Het
Apob	G	A	12: 7,980,635	A125T	probably damaging	Het
Bace2	G	T	16: 97,356,859	A20S	unknown	Het
Bcar1	T	C	8: 111,715,709	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,902,089	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,920,519	S223P	probably damaging	Het
Cckar	C	T	5: 53,707,245		probably null	Het
Cdhr2	A	G	13: 54,713,988	N66S	probably benign	Het
Chd9	A	G	8: 91,030,642	M1890V	probably benign	Het
Col6a5	C	T	9: 105,878,638	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,185,094	M119R	unknown	Het
Cryaa	A	G	17: 31,679,668	H123R	probably damaging	Het
Cux1	A	T	5: 136,370,135	D171E	probably damaging	Het
Dgkz	T	A	2: 91,933,799	T1067S	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,334	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,908,384	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 78,056,752		probably null	Het
Dph6	T	C	2: 114,569,514	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,340,171	D767G	probably damaging	Het
Edn3	C	T	2: 174,761,689	P77S	possibly damaging	Het
Elmsan1	A	C	12: 84,152,887	F1020V	probably benign	Het
Fbln7	A	C	2: 128,895,248	S328R	probably null	Het
Fbn2	T	C	18: 58,059,356	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,411,796	T252S	probably benign	Het
Foxred2	A	G	15: 77,952,006	S384P	probably damaging	Het
Gdpd1	G	A	11: 87,045,183	H174Y	probably benign	Het
Gm10542	A	C	18: 44,204,638	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,635,850		probably benign	Het
H2-Ab1	A	G	17: 34,265,007	E114G	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Igfn1	C	T	1: 135,975,957	V348I	probably damaging	Het
Itpr1	T	A	6: 108,489,849	L2173Q	probably damaging	Het
Lamp5	A	G	2: 136,059,601	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,594,981	K400*	probably null	Het
Man2a2	C	T	7: 80,361,120	V708I	probably benign	Het
Me1	C	T	9: 86,598,794	V353M	probably benign	Het
Nbeal1	T	A	1: 60,278,680	D1925E	probably damaging	Het
Oca2	T	A	7: 56,316,420	F387I	probably damaging	Het
Olfr1163	T	A	2: 88,070,434	H316L	probably benign	Het
Olfr181	T	G	16: 58,926,122	I150L	probably benign	Het
Olfr181	G	T	16: 58,926,123	F149L	probably benign	Het
Olfr212	T	A	6: 116,516,354	N192K	probably benign	Het
Olfr420	T	C	1: 174,158,890	I39T	probably benign	Het
Olfr912	T	A	9: 38,582,077	S267T	probably benign	Het
Opn3	G	T	1: 175,663,089	N335K	probably benign	Het
Osm	A	G	11: 4,238,504	N44D	possibly damaging	Het
Otop2	T	C	11: 115,329,086	Y251H	probably damaging	Het
Pappa	T	C	4: 65,156,375	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,101,258	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,503,385	V726M	probably benign	Het
Pzp	T	A	6: 128,496,663	D731V	probably benign	Het
Rgl2	A	T	17: 33,936,028	I669F	probably damaging	Het
Rpl38	T	C	11: 114,672,288	*71R	probably null	Het
Rufy1	G	A	11: 50,398,474	R514W	probably damaging	Het
Ruvbl2	G	A	7: 45,434,317		probably benign	Het
Scn9a	T	G	2: 66,533,313	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,195,736	S85P	probably benign	Het
Slc17a1	A	G	13: 23,878,811	I287V	probably benign	Het
Slc35f3	T	A	8: 126,389,189	I285N	probably damaging	Het
Slx4	A	G	16: 3,988,063	S542P	possibly damaging	Het
Sox30	A	T	11: 46,017,353	L782F	probably damaging	Het
Sspo	A	G	6: 48,455,872	N894S	probably benign	Het
Syne1	G	A	10: 5,202,013	Q5765*	probably null	Het
Taar7e	T	C	10: 24,038,074	I154T	probably benign	Het
Tars	A	G	15: 11,397,179		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem198b	A	T	10: 128,803,188	C29S	probably damaging	Het
Tnr	A	C	1: 159,895,047	M1021L	probably benign	Het
Tom1l1	G	A	11: 90,657,818	P309L	probably damaging	Het
Traf4	A	G	11: 78,161,101	S186P	probably benign	Het
Trpm1	T	G	7: 64,240,571	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,841,278		probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,304,019	I92F	probably damaging	Het
Zfp457	A	T	13: 67,293,901	D203E	probably benign	Het
Zfp518b	G	A	5: 38,674,158	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp777	G	A	6: 48,025,587	T523M	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
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
R9587:Matr3	UTSW	18	35584823	missense	probably null	0.13

Predicted Primers

PCR Primer
(F):5'- TTAAAATTAACCATCCTGCCATTCC -3'
(R):5'- TCACCAGGGGATATAACTTTATACAC -3'

Sequencing Primer
(F):5'- GGATTTCTGAGTTCAAGGCCAACC -3'
(R):5'- TAAGTTTGTTGGGAGAAACAGAAAAG -3'

Posted On

2022-02-07