Incidental Mutation 'R5084:Matr3'
ID 387342
Institutional Source Beutler Lab
Gene Symbol Matr3
Ensembl Gene ENSMUSG00000037236
Gene Name matrin 3
Synonyms D030046F20Rik, 2810017I02Rik, 1110061A14Rik
MMRRC Submission 042673-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R5084 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 35695191-35726888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35715135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 195 (S195N)
Ref Sequence ENSEMBL: ENSMUSP00000140853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166793] [ENSMUST00000186614] [ENSMUST00000186796] [ENSMUST00000187389] [ENSMUST00000187793] [ENSMUST00000188275] [ENSMUST00000190029] [ENSMUST00000190121] [ENSMUST00000190653] [ENSMUST00000188767] [ENSMUST00000189163] [ENSMUST00000189039]
AlphaFold Q8K310
Predicted Effect possibly damaging
Transcript: ENSMUST00000166793
AA Change: S533N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125761
Gene: ENSMUSG00000037236
AA Change: S533N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: S195N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140128
Gene: ENSMUSG00000037236
AA Change: S195N

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000187389
AA Change: S533N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139745
Gene: ENSMUSG00000037236
AA Change: S533N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
AA Change: S245N

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140401
Gene: ENSMUSG00000037236
AA Change: S245N

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000190029
AA Change: S533N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140846
Gene: ENSMUSG00000037236
AA Change: S533N

DomainStartEndE-ValueType
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: ENSMUST00000190121
AA Change: S195N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140853
Gene: ENSMUSG00000037236
AA Change: S195N

DomainStartEndE-ValueType
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: S195N

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000141135
Gene: ENSMUSG00000037236
AA Change: S195N

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000188767
SMART Domains Protein: ENSMUSP00000141027
Gene: ENSMUSG00000037236

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
low complexity region 33 48 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189163
Predicted Effect probably benign
Transcript: ENSMUST00000189039
SMART Domains Protein: ENSMUSP00000139525
Gene: ENSMUSG00000037236

DomainStartEndE-ValueType
ZnF_U1 36 70 2.6e-8 SMART
ZnF_C2H2 39 63 8.8e-2 SMART
low complexity region 99 109 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 T A 9: 104,204,116 (GRCm39) E59D probably damaging Het
Akap7 T A 10: 25,155,640 (GRCm39) probably benign Het
Anpep C A 7: 79,476,618 (GRCm39) probably null Het
Aste1 T A 9: 105,274,886 (GRCm39) Y314* probably null Het
Ccdc183 G A 2: 25,498,802 (GRCm39) T497I probably damaging Het
Cd4 A T 6: 124,847,402 (GRCm39) I254N probably damaging Het
Crot G T 5: 9,019,994 (GRCm39) H449Q probably damaging Het
Dact2 A T 17: 14,418,214 (GRCm39) W164R possibly damaging Het
Dapk3 C A 10: 81,026,152 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbrsl1 G A 5: 110,527,272 (GRCm39) probably benign Het
Flg T C 3: 93,184,922 (GRCm39) F15L probably damaging Het
Fscn2 A G 11: 120,252,686 (GRCm39) D51G probably damaging Het
H2-Ob G T 17: 34,460,102 (GRCm39) G71V probably damaging Het
Hmgcs1 T C 13: 120,161,520 (GRCm39) V104A possibly damaging Het
Hs3st4 G T 7: 123,996,518 (GRCm39) D395Y probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Ldlrad3 G A 2: 101,900,329 (GRCm39) R58C probably damaging Het
Lpin1 A G 12: 16,626,983 (GRCm39) S188P probably damaging Het
Mamdc2 G T 19: 23,336,516 (GRCm39) T331K possibly damaging Het
Nktr T C 9: 121,577,176 (GRCm39) Y390H possibly damaging Het
Notch3 C T 17: 32,376,864 (GRCm39) probably null Het
Olfm3 T C 3: 114,698,202 (GRCm39) probably null Het
Or10ak11 A G 4: 118,686,767 (GRCm39) V290A probably damaging Het
Or2a20 T C 6: 43,194,594 (GRCm39) L249P probably damaging Het
Or5h25 C T 16: 58,930,436 (GRCm39) C179Y possibly damaging Het
Or7e173 T A 9: 19,938,551 (GRCm39) I228F probably damaging Het
Or7g17 T A 9: 18,768,632 (GRCm39) M237K probably benign Het
Pask A G 1: 93,249,819 (GRCm39) V527A probably benign Het
Pcdha6 A T 18: 37,102,016 (GRCm39) N403I probably damaging Het
Peg3 T C 7: 6,710,848 (GRCm39) E1458G probably damaging Het
Pip4k2b G A 11: 97,610,569 (GRCm39) T386M probably damaging Het
Pkd1l1 T C 11: 8,892,004 (GRCm39) M272V probably benign Het
Plcb4 A G 2: 135,844,571 (GRCm39) E163G probably damaging Het
Plk5 C A 10: 80,194,723 (GRCm39) R149S possibly damaging Het
Pou4f3 A T 18: 42,528,933 (GRCm39) Y292F probably damaging Het
Rasgef1c A G 11: 49,860,332 (GRCm39) K272E probably damaging Het
Rbl2 C T 8: 91,841,759 (GRCm39) T942M probably benign Het
Sipa1l3 G A 7: 29,048,000 (GRCm39) S247F probably damaging Het
Smarca4 T C 9: 21,572,059 (GRCm39) L777P probably damaging Het
Smpd1 T C 7: 105,206,185 (GRCm39) Y438H probably damaging Het
Sorl1 T C 9: 41,887,673 (GRCm39) K2052R probably benign Het
Spata31d1c C A 13: 65,182,944 (GRCm39) P162Q probably damaging Het
Spmip9 A G 6: 70,892,688 (GRCm39) S20P possibly damaging Het
Ston1 A T 17: 88,944,002 (GRCm39) E469D probably benign Het
Syde2 AGTTC AGTTCGTTC 3: 145,707,164 (GRCm39) probably null Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Taar5 T A 10: 23,846,836 (GRCm39) L78Q probably damaging Het
Tas2r114 A T 6: 131,666,251 (GRCm39) L259* probably null Het
Topaz1 T A 9: 122,577,883 (GRCm39) H264Q probably benign Het
Vcl G T 14: 21,059,027 (GRCm39) V548L possibly damaging Het
Vmn2r57 C A 7: 41,075,974 (GRCm39) probably null Het
Vmn2r92 A G 17: 18,405,439 (GRCm39) *861W probably null Het
Ylpm1 T G 12: 85,076,095 (GRCm39) V940G probably damaging Het
Zfp236 A G 18: 82,627,556 (GRCm39) S1500P probably damaging Het
Zfp384 G T 6: 125,000,642 (GRCm39) probably benign Het
Zfp786 T C 6: 47,796,953 (GRCm39) M662V probably benign Het
Other mutations in Matr3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGGCAAGCCAGTGAGAGTTC -3'
(R):5'- TGCTTGATCATGGGCATCTAAC -3'

Sequencing Primer
(F):5'- GCCAGTGAGAGTTCATTTATCCCAG -3'
(R):5'- TCATGGGCATCTAACTAAAATTGTG -3'
Posted On 2016-06-06