Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Matr3'

380228

Institutional Source

Beutler Lab

Gene Symbol

Matr3

Ensembl Gene

ENSMUSG00000037236

Gene Name

matrin 3

Synonyms

D030046F20Rik, 2810017I02Rik, 1110061A14Rik

MMRRC Submission

042471-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35695191-35726888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35714693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 113 (V113E)

Ref Sequence

ENSEMBL: ENSMUSP00000141135 (fasta)

Gene Model

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

AlphaFold

Q8K310

Predicted Effect

probably damaging
Transcript: ENSMUST00000166793
AA Change: V451E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125761
Gene: ENSMUSG00000037236
AA Change: V451E

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: ENSMUST00000186158

Predicted Effect

probably benign
Transcript: ENSMUST00000186614

SMART Domains

Protein: ENSMUSP00000141189
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
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 damaging
Transcript: ENSMUST00000186796
AA Change: V113E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140128
Gene: ENSMUSG00000037236
AA Change: V113E

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: V451E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139745
Gene: ENSMUSG00000037236
AA Change: V451E

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: 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

possibly damaging
Transcript: ENSMUST00000188275
AA Change: V163E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140401
Gene: ENSMUSG00000037236
AA Change: V163E

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 damaging
Transcript: ENSMUST00000190029
AA Change: V451E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140846
Gene: ENSMUSG00000037236
AA Change: V451E

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 damaging
Transcript: ENSMUST00000190653
AA Change: V113E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141135
Gene: ENSMUSG00000037236
AA Change: V113E

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: ENSMUST00000190121
AA Change: V113E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140853
Gene: ENSMUSG00000037236
AA Change: V113E

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

noncoding transcript
Transcript: ENSMUST00000189019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193225

Predicted Effect

probably benign
Transcript: ENSMUST00000189163

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

Meta Mutation Damage Score

0.9605

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

94% (98/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,267 (GRCm39)	S466P	possibly damaging	Het
Ablim1	T	C	19: 57,068,298 (GRCm39)	T267A	probably damaging	Het
Acap2	A	T	16: 30,922,317 (GRCm39)	L724Q	possibly damaging	Het
Acsbg3	A	G	17: 57,195,655 (GRCm39)	N684S	probably benign	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Ajm1	T	C	2: 25,468,765 (GRCm39)	Y382C	probably damaging	Het
Akap9	G	A	5: 4,084,916 (GRCm39)		probably benign	Het
Akr1d1	G	A	6: 37,541,426 (GRCm39)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,220,970 (GRCm39)	R54Q	probably benign	Het
Arhgap45	T	A	10: 79,862,900 (GRCm39)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,078,925 (GRCm39)	N137K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
BC048679	T	C	7: 81,145,468 (GRCm39)	N27D	probably benign	Het
Ccdc78	A	G	17: 26,007,674 (GRCm39)	N237S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm39)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,313 (GRCm39)	E731G	probably damaging	Het
Cul1	G	T	6: 47,494,080 (GRCm39)	K464N	probably benign	Het
Cul1	T	A	6: 47,494,125 (GRCm39)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,387,006 (GRCm39)	D373E	probably benign	Het
Dhcr7	A	G	7: 143,394,237 (GRCm39)	Q126R	probably benign	Het
Dnd1	C	T	18: 36,899,016 (GRCm39)		probably benign	Het
Dok2	T	C	14: 71,014,956 (GRCm39)	F228L	probably damaging	Het
Dpep3	T	G	8: 106,702,821 (GRCm39)	I314L	probably benign	Het
Eps8	A	G	6: 137,491,293 (GRCm39)	F362L	probably damaging	Het
Espn	G	T	4: 152,223,303 (GRCm39)	R250S	probably damaging	Het
Faf1	A	C	4: 109,600,093 (GRCm39)	N163H	probably damaging	Het
Fcho1	C	T	8: 72,163,125 (GRCm39)	V635I	probably benign	Het
Garin5b	C	T	7: 4,760,468 (GRCm39)		probably null	Het
Gask1b	C	A	3: 79,843,981 (GRCm39)	S36*	probably null	Het
Gm7579	G	A	7: 141,765,645 (GRCm39)	C17Y	unknown	Het
Gpx8	G	T	13: 113,182,042 (GRCm39)	Y130*	probably null	Het
Grm6	C	T	11: 50,755,439 (GRCm39)	T857M	probably benign	Het
Gvin1	A	T	7: 105,762,643 (GRCm39)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,443,881 (GRCm39)	M30K	probably benign	Het
Ilkap	A	G	1: 91,315,105 (GRCm39)		probably benign	Het
Iqub	T	C	6: 24,450,841 (GRCm39)	D586G	probably damaging	Het
Klhl22	G	A	16: 17,594,880 (GRCm39)		silent	Het
Klhl25	T	C	7: 75,516,798 (GRCm39)	I568T	probably benign	Het
Krr1	C	T	10: 111,821,596 (GRCm39)		probably benign	Het
Larp6	A	G	9: 60,645,093 (GRCm39)	E411G	probably damaging	Het
Lepr	A	C	4: 101,646,534 (GRCm39)	I822L	probably benign	Het
Lrig3	C	A	10: 125,846,921 (GRCm39)	D896E	probably benign	Het
Lrp1	C	T	10: 127,389,693 (GRCm39)	G3114D	probably damaging	Het
Lyset	A	T	12: 102,710,314 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,380,543 (GRCm39)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 103,138,485 (GRCm39)	D180G	probably damaging	Het
Mbd4	A	T	6: 115,825,887 (GRCm39)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,319,737 (GRCm39)	R238W	probably benign	Het
Mcrip2	G	T	17: 26,083,621 (GRCm39)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,502,418 (GRCm39)	N1043S	probably damaging	Het
Nbeal2	G	A	9: 110,464,262 (GRCm39)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,329,600 (GRCm39)	Y205F	probably damaging	Het
Nsmce4a	A	T	7: 130,135,321 (GRCm39)		probably benign	Het
Nubp2	A	G	17: 25,103,430 (GRCm39)	M149T	probably benign	Het
Or4d2b	T	A	11: 87,780,051 (GRCm39)	M224L	probably damaging	Het
Or8d6	G	T	9: 39,853,800 (GRCm39)	M81I	probably benign	Het
Or8j3c	T	C	2: 86,253,301 (GRCm39)	T240A	probably damaging	Het
Pax3	A	G	1: 78,169,093 (GRCm39)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,343,135 (GRCm39)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 115,939,391 (GRCm39)	A1649V	probably damaging	Het
Pik3r6	T	A	11: 68,434,879 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,400,774 (GRCm39)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,896,305 (GRCm39)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,892,012 (GRCm39)	T91A	probably benign	Het
Ptger4	G	T	15: 5,272,087 (GRCm39)	N177K	probably benign	Het
Reln	A	G	5: 22,106,749 (GRCm39)	F3207S	probably benign	Het
Rigi	G	T	4: 40,210,000 (GRCm39)	S644R	probably damaging	Het
Ripk4	C	T	16: 97,552,736 (GRCm39)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,343,570 (GRCm39)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 157,916,855 (GRCm39)	Y278*	probably null	Het
Sel1l	A	G	12: 91,798,376 (GRCm39)	L140P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,532,263 (GRCm39)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Slmap	A	T	14: 26,181,364 (GRCm39)	V323E	probably benign	Het
Smim6	T	C	11: 115,804,330 (GRCm39)	V39A	probably benign	Het
Snapc3	C	T	4: 83,383,134 (GRCm39)		probably benign	Het
Sorbs1	T	C	19: 40,325,449 (GRCm39)	T382A	probably benign	Het
Sparc	G	A	11: 55,290,037 (GRCm39)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,786,589 (GRCm39)	F283I	probably damaging	Het
Stil	A	G	4: 114,895,671 (GRCm39)	T586A	probably benign	Het
Tango2	A	G	16: 18,128,765 (GRCm39)		silent	Het
Tbce	T	A	13: 14,194,380 (GRCm39)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Tex55	A	G	16: 38,648,507 (GRCm39)	S201P	probably damaging	Het
Tle4	A	T	19: 14,441,709 (GRCm39)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm39)	F254S	probably damaging	Het
Tubgcp3	T	C	8: 12,699,722 (GRCm39)	K377R	probably benign	Het
Ulk4	G	A	9: 121,079,968 (GRCm39)	T497M	possibly damaging	Het
Ush2a	A	T	1: 188,285,472 (GRCm39)	T2003S	probably benign	Het
Usp53	A	G	3: 122,755,012 (GRCm39)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 11,886,683 (GRCm39)	L98Q	probably damaging	Het
Vmn2r84	T	A	10: 130,221,712 (GRCm39)	D836V	probably damaging	Het
Vps13d	A	G	4: 144,813,731 (GRCm39)	F165L	probably benign	Het
Vstm4	A	G	14: 32,585,742 (GRCm39)	E103G	possibly damaging	Het
Zfp384	G	A	6: 125,007,893 (GRCm39)		silent	Het
Zfp870	A	T	17: 33,102,314 (GRCm39)	C339*	probably null	Het

Other mutations in Matr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Matr3	APN	18	35,721,442 (GRCm39)	missense	probably damaging	1.00
IGL03083:Matr3	APN	18	35,705,471 (GRCm39)	missense	probably damaging	0.96
IGL03117:Matr3	APN	18	35,705,710 (GRCm39)	missense	probably damaging	1.00
IGL03163:Matr3	APN	18	35,705,644 (GRCm39)	missense	probably damaging	0.99
IGL03381:Matr3	APN	18	35,712,078 (GRCm39)	splice site	probably benign
R0456:Matr3	UTSW	18	35,705,917 (GRCm39)	missense	probably damaging	1.00
R1136:Matr3	UTSW	18	35,705,948 (GRCm39)	missense	probably damaging	1.00
R1459:Matr3	UTSW	18	35,717,709 (GRCm39)	missense	probably benign	0.28
R1850:Matr3	UTSW	18	35,715,110 (GRCm39)	missense	probably damaging	1.00
R1929:Matr3	UTSW	18	35,721,378 (GRCm39)	splice site	probably benign
R2185:Matr3	UTSW	18	35,714,278 (GRCm39)	missense	probably damaging	1.00
R2366:Matr3	UTSW	18	35,721,448 (GRCm39)	missense	probably damaging	1.00
R2870:Matr3	UTSW	18	35,705,349 (GRCm39)	missense	probably benign	0.25
R2870:Matr3	UTSW	18	35,705,349 (GRCm39)	missense	probably benign	0.25
R2871:Matr3	UTSW	18	35,705,349 (GRCm39)	missense	probably benign	0.25
R2871:Matr3	UTSW	18	35,705,349 (GRCm39)	missense	probably benign	0.25
R2872:Matr3	UTSW	18	35,705,349 (GRCm39)	missense	probably benign	0.25
R2872:Matr3	UTSW	18	35,705,349 (GRCm39)	missense	probably benign	0.25
R2873:Matr3	UTSW	18	35,705,349 (GRCm39)	missense	probably benign	0.25
R3908:Matr3	UTSW	18	35,705,894 (GRCm39)	missense	probably damaging	1.00
R4400:Matr3	UTSW	18	35,716,969 (GRCm39)	missense	possibly damaging	0.80
R4417:Matr3	UTSW	18	35,705,171 (GRCm39)	missense	probably damaging	1.00
R4860:Matr3	UTSW	18	35,714,693 (GRCm39)	missense	probably damaging	1.00
R4881:Matr3	UTSW	18	35,705,428 (GRCm39)	missense	probably damaging	1.00
R4908:Matr3	UTSW	18	35,705,754 (GRCm39)	missense	probably damaging	0.96
R5084:Matr3	UTSW	18	35,715,135 (GRCm39)	missense	probably damaging	0.99
R5660:Matr3	UTSW	18	35,705,147 (GRCm39)	missense	probably damaging	0.99
R5709:Matr3	UTSW	18	35,715,015 (GRCm39)	missense	probably damaging	1.00
R5779:Matr3	UTSW	18	35,717,575 (GRCm39)	missense	possibly damaging	0.81
R5876:Matr3	UTSW	18	35,720,791 (GRCm39)	missense	probably benign
R6392:Matr3	UTSW	18	35,717,894 (GRCm39)	missense	probably benign	0.07
R7062:Matr3	UTSW	18	35,712,072 (GRCm39)	critical splice donor site	probably null
R7156:Matr3	UTSW	18	35,705,974 (GRCm39)	missense	probably damaging	0.98
R7228:Matr3	UTSW	18	35,695,537 (GRCm39)	missense	unknown
R7389:Matr3	UTSW	18	35,717,638 (GRCm39)	missense	probably benign
R8940:Matr3	UTSW	18	35,705,640 (GRCm39)	missense	probably damaging	0.98
R9071:Matr3	UTSW	18	35,705,803 (GRCm39)	missense	possibly damaging	0.94
R9159:Matr3	UTSW	18	35,712,355 (GRCm39)	missense	possibly damaging	0.71
R9205:Matr3	UTSW	18	35,720,774 (GRCm39)	missense	probably benign	0.08
R9587:Matr3	UTSW	18	35,717,876 (GRCm39)	missense	probably null	0.13

Predicted Primers

PCR Primer
(F):5'- CTTGAACACTGTGGTCTTTTGC -3'
(R):5'- ATCACACGACCAAGTTCTTGC -3'

Sequencing Primer
(F):5'- AACACTGTGGTCTTTTGCATATTG -3'
(R):5'- ACACGACCAAGTTCTTGCTTTTG -3'

Posted On

2016-04-15