Incidental Mutation 'K3955:Mtrex'
ID 67249
Institutional Source Beutler Lab
Gene Symbol Mtrex
Ensembl Gene ENSMUSG00000016018
Gene Name Mtr4 exosome RNA helicase
Synonyms Skiv2l2, 2610528A15Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # K3955 (G3) of strain 706
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 113004306-113063914 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 113047513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 277 (Y277*)
Ref Sequence ENSEMBL: ENSMUSP00000022281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022281]
AlphaFold Q9CZU3
Predicted Effect probably null
Transcript: ENSMUST00000022281
AA Change: Y277*
SMART Domains Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018
AA Change: Y277*

DomainStartEndE-ValueType
low complexity region 20 37 N/A INTRINSIC
DEXDc 134 317 6.42e-34 SMART
HELICc 437 526 3.14e-19 SMART
Pfam:rRNA_proc-arch 580 839 1.7e-91 PFAM
DSHCT 863 1040 1.69e-96 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225997
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 100% (42/42)
Allele List at MGI

All alleles(16) : Targeted(2) Gene trapped(14)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 G A 1: 89,815,326 (GRCm39) R738H probably damaging Het
Arhgap28 T C 17: 68,311,001 (GRCm39) E2G probably damaging Het
Atad2b C A 12: 5,004,536 (GRCm39) probably benign Het
Atmin T A 8: 117,683,775 (GRCm39) C478* probably null Het
Calr T C 8: 85,572,902 (GRCm39) Y57C probably damaging Het
Cdh13 G A 8: 119,401,843 (GRCm39) V82M probably damaging Het
Ces3a A T 8: 105,777,259 (GRCm39) probably benign Het
Dmbt1 T C 7: 130,721,293 (GRCm39) Y1854H probably damaging Het
Dnah1 T A 14: 30,988,416 (GRCm39) M3429L probably benign Het
Dscam A G 16: 96,474,887 (GRCm39) F1225S probably benign Het
E030025P04Rik G A 11: 109,034,778 (GRCm39) P37S unknown Het
Eral1 A T 11: 77,966,847 (GRCm39) D189E probably damaging Het
Fbxw14 G T 9: 109,105,313 (GRCm39) P284Q possibly damaging Het
Fcrl6 A G 1: 172,425,251 (GRCm39) V260A probably benign Het
Fezf2 A T 14: 12,345,097 (GRCm38) F30Y probably damaging Het
Gjb4 A T 4: 127,245,293 (GRCm39) V216D probably benign Het
Gm9758 G A 5: 14,963,522 (GRCm39) probably benign Het
Gm9758 C G 5: 14,963,553 (GRCm39) V92L probably benign Het
Gmps A C 3: 63,908,954 (GRCm39) R485S probably damaging Het
Gtdc1 C T 2: 44,642,233 (GRCm39) probably null Het
H2-Ob C T 17: 34,460,158 (GRCm39) R19C probably damaging Het
Lars2 T C 9: 123,206,842 (GRCm39) V103A probably damaging Het
Ndnf G A 6: 65,678,413 (GRCm39) probably benign Het
Nectin1 A G 9: 43,703,375 (GRCm39) Y211C probably damaging Het
Notch4 C T 17: 34,787,436 (GRCm39) T332I probably damaging Het
Or13c25 A G 4: 52,911,081 (GRCm39) F238L probably damaging Het
Or8g28 A C 9: 39,169,926 (GRCm39) L14W probably damaging Het
Or8g53 A G 9: 39,683,469 (GRCm39) I209T probably benign Het
Paf1 T C 7: 28,096,350 (GRCm39) probably null Het
Pcdhb1 G T 18: 37,399,026 (GRCm39) G326C probably damaging Het
Plcl1 A G 1: 55,737,098 (GRCm39) Y813C possibly damaging Het
Pramel25 T C 4: 143,521,710 (GRCm39) I442T possibly damaging Het
Prkcq T C 2: 11,251,604 (GRCm39) probably benign Het
Proser3 G T 7: 30,242,924 (GRCm39) P218T probably damaging Het
Rccd1 G A 7: 79,970,419 (GRCm39) S66F probably benign Het
Recql G T 6: 142,323,932 (GRCm39) S54* probably null Het
Samd15 G T 12: 87,247,534 (GRCm39) G73V probably benign Het
Siglec1 T C 2: 130,923,359 (GRCm39) N462S probably benign Het
Syne2 G T 12: 75,977,439 (GRCm39) A1296S probably damaging Het
Tlk1 T C 2: 70,552,045 (GRCm39) E542G possibly damaging Het
Tnks1bp1 C T 2: 84,892,755 (GRCm39) T232I probably benign Het
Tnrc6c T A 11: 117,651,564 (GRCm39) Y1696N probably damaging Het
Uggt1 A G 1: 36,201,434 (GRCm39) I1102T probably benign Het
Vmn1r84 C T 7: 12,095,884 (GRCm39) V270M probably damaging Het
Wasf1 C T 10: 40,812,191 (GRCm39) P327S unknown Het
Other mutations in Mtrex
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Mtrex APN 13 113,051,023 (GRCm39) missense probably damaging 1.00
IGL01772:Mtrex APN 13 113,027,859 (GRCm39) missense probably benign 0.10
IGL01843:Mtrex APN 13 113,055,095 (GRCm39) splice site probably benign
IGL01972:Mtrex APN 13 113,017,595 (GRCm39) missense probably damaging 1.00
IGL02451:Mtrex APN 13 113,027,881 (GRCm39) missense probably damaging 1.00
IGL02716:Mtrex APN 13 113,019,680 (GRCm39) missense probably benign 0.13
IGL03234:Mtrex APN 13 113,017,509 (GRCm39) splice site probably benign
P0038:Mtrex UTSW 13 113,047,513 (GRCm39) nonsense probably null
R0067:Mtrex UTSW 13 113,023,396 (GRCm39) missense probably benign 0.34
R0067:Mtrex UTSW 13 113,023,396 (GRCm39) missense probably benign 0.34
R0086:Mtrex UTSW 13 113,063,862 (GRCm39) missense probably benign 0.00
R0687:Mtrex UTSW 13 113,050,895 (GRCm39) missense probably damaging 1.00
R1216:Mtrex UTSW 13 113,050,876 (GRCm39) splice site probably benign
R1218:Mtrex UTSW 13 113,054,156 (GRCm39) missense probably damaging 1.00
R1312:Mtrex UTSW 13 113,019,785 (GRCm39) nonsense probably null
R1827:Mtrex UTSW 13 113,049,633 (GRCm39) critical splice donor site probably null
R1852:Mtrex UTSW 13 113,009,461 (GRCm39) missense probably benign 0.00
R1889:Mtrex UTSW 13 113,024,024 (GRCm39) missense probably benign 0.00
R2205:Mtrex UTSW 13 113,035,424 (GRCm39) missense probably benign 0.06
R2256:Mtrex UTSW 13 113,013,046 (GRCm39) missense probably damaging 0.98
R2394:Mtrex UTSW 13 113,019,702 (GRCm39) missense probably benign 0.02
R3717:Mtrex UTSW 13 113,032,129 (GRCm39) missense probably damaging 1.00
R3779:Mtrex UTSW 13 113,039,926 (GRCm39) splice site probably benign
R4613:Mtrex UTSW 13 113,058,273 (GRCm39) nonsense probably null
R4939:Mtrex UTSW 13 113,046,426 (GRCm39) missense possibly damaging 0.91
R5452:Mtrex UTSW 13 113,049,715 (GRCm39) missense probably null 0.96
R5591:Mtrex UTSW 13 113,063,890 (GRCm39) start codon destroyed probably null 0.88
R5688:Mtrex UTSW 13 113,009,590 (GRCm39) nonsense probably null
R5761:Mtrex UTSW 13 113,054,196 (GRCm39) missense probably damaging 0.96
R5789:Mtrex UTSW 13 113,027,819 (GRCm39) missense probably benign 0.01
R5851:Mtrex UTSW 13 113,045,486 (GRCm39) missense probably damaging 1.00
R6038:Mtrex UTSW 13 113,027,824 (GRCm39) missense probably benign 0.00
R6038:Mtrex UTSW 13 113,027,824 (GRCm39) missense probably benign 0.00
R6348:Mtrex UTSW 13 113,047,451 (GRCm39) missense possibly damaging 0.88
R7276:Mtrex UTSW 13 113,050,973 (GRCm39) missense probably benign 0.00
R7397:Mtrex UTSW 13 113,058,220 (GRCm39) missense probably benign
R7792:Mtrex UTSW 13 113,009,443 (GRCm39) missense probably benign 0.02
R7863:Mtrex UTSW 13 113,045,435 (GRCm39) missense probably benign 0.00
R7948:Mtrex UTSW 13 113,058,296 (GRCm39) missense probably benign 0.02
R8035:Mtrex UTSW 13 113,035,336 (GRCm39) missense probably benign 0.09
R8124:Mtrex UTSW 13 113,063,871 (GRCm39) missense probably benign 0.01
R8152:Mtrex UTSW 13 113,009,517 (GRCm39) nonsense probably null
R8189:Mtrex UTSW 13 113,028,515 (GRCm39) missense possibly damaging 0.54
R8880:Mtrex UTSW 13 113,051,034 (GRCm39) missense probably benign 0.04
R9228:Mtrex UTSW 13 113,050,888 (GRCm39) critical splice donor site probably null
R9281:Mtrex UTSW 13 113,046,443 (GRCm39) nonsense probably null
R9679:Mtrex UTSW 13 113,032,055 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAGCCCAACTCGTAGAGGCTCAG -3'
(R):5'- GCCATGAGCAGAAGCAGGTTTCAG -3'

Sequencing Primer
(F):5'- actggattggagctggaac -3'
(R):5'- CAGAAGCAGGTTTCAGTATGGTC -3'
Posted On 2013-09-03