Incidental Mutation 'R6173:Mrto4'
ID 489131
Institutional Source Beutler Lab
Gene Symbol Mrto4
Ensembl Gene ENSMUSG00000028741
Gene Name mRNA turnover 4, ribosome maturation factor
Synonyms 2610012O22Rik, Mrt4
MMRRC Submission 044316-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R6173 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 139074751-139079887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139077755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 27 (I27V)
Ref Sequence ENSEMBL: ENSMUSP00000099561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030513] [ENSMUST00000042096] [ENSMUST00000082262] [ENSMUST00000102503] [ENSMUST00000155257] [ENSMUST00000179784] [ENSMUST00000147999]
AlphaFold Q9D0I8
Predicted Effect probably benign
Transcript: ENSMUST00000030513
AA Change: I27V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000030513
Gene: ENSMUSG00000028741
AA Change: I27V

DomainStartEndE-ValueType
Pfam:Ribosomal_L10 18 121 7.9e-23 PFAM
low complexity region 222 238 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000042096
SMART Domains Protein: ENSMUSP00000049034
Gene: ENSMUSG00000078517

DomainStartEndE-ValueType
Pfam:PQQ_2 21 258 5.3e-9 PFAM
Pfam:DUF1620 787 993 1.1e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000082262
SMART Domains Protein: ENSMUSP00000080888
Gene: ENSMUSG00000078517

DomainStartEndE-ValueType
Pfam:PQQ_2 21 258 4.7e-10 PFAM
Pfam:DUF1620 791 996 1.1e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102503
AA Change: I27V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099561
Gene: ENSMUSG00000028741
AA Change: I27V

DomainStartEndE-ValueType
Pfam:Ribosomal_L10 18 121 4.6e-24 PFAM
low complexity region 223 239 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144335
Predicted Effect probably benign
Transcript: ENSMUST00000155257
SMART Domains Protein: ENSMUSP00000121453
Gene: ENSMUSG00000028741

DomainStartEndE-ValueType
Pfam:Ribosomal_L10 1 61 4.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179784
SMART Domains Protein: ENSMUSP00000137103
Gene: ENSMUSG00000078517

DomainStartEndE-ValueType
Pfam:PQQ_2 21 258 5.3e-9 PFAM
Pfam:DUF1620 790 996 1.1e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147999
SMART Domains Protein: ENSMUSP00000117419
Gene: ENSMUSG00000066036

DomainStartEndE-ValueType
low complexity region 170 226 N/A INTRINSIC
low complexity region 617 629 N/A INTRINSIC
Pfam:E3_UbLigase_R4 1205 1301 4.5e-60 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 T C 3: 126,846,395 (GRCm39) D219G probably damaging Het
Arap2 A T 5: 62,906,965 (GRCm39) I18N probably damaging Het
Baz1b T C 5: 135,271,361 (GRCm39) S1315P probably benign Het
Bbs7 A T 3: 36,646,523 (GRCm39) C432* probably null Het
Bend3 A G 10: 43,385,864 (GRCm39) T86A probably benign Het
Cadm2 C T 16: 66,679,729 (GRCm39) V35I probably benign Het
Ch25h A G 19: 34,451,896 (GRCm39) S211P probably damaging Het
Chd5 A T 4: 152,463,848 (GRCm39) H1476L probably damaging Het
Chia1 T C 3: 106,036,338 (GRCm39) probably null Het
Clpx C A 9: 65,209,161 (GRCm39) S92* probably null Het
Dazl A T 17: 50,594,599 (GRCm39) M152K probably benign Het
Dnah17 A G 11: 117,930,772 (GRCm39) S3748P probably damaging Het
Dock2 T C 11: 34,212,388 (GRCm39) K1251R probably null Het
Esr1 T C 10: 4,696,760 (GRCm39) V203A probably damaging Het
F830045P16Rik A G 2: 129,305,588 (GRCm39) I262T probably damaging Het
Foxp1 G A 6: 98,992,471 (GRCm39) Q41* probably null Het
Foxp1 C A 6: 98,992,475 (GRCm39) probably null Het
Fshb T C 2: 106,887,638 (GRCm39) E127G possibly damaging Het
Galk2 A G 2: 125,701,137 (GRCm39) probably benign Het
Gid4 A G 11: 60,323,241 (GRCm39) D111G probably damaging Het
Gm14412 G A 2: 177,006,330 (GRCm39) P522S probably damaging Het
Iqank1 A G 15: 75,917,237 (GRCm39) E290G probably damaging Het
Mfap4 A G 11: 61,376,245 (GRCm39) probably null Het
Mfsd2a A G 4: 122,845,039 (GRCm39) V224A probably benign Het
Mocos A T 18: 24,809,639 (GRCm39) Y414F probably benign Het
Muc4 A G 16: 32,554,958 (GRCm39) probably benign Het
Mug1 T A 6: 121,840,752 (GRCm39) I534N probably damaging Het
Mup20 A T 4: 61,972,267 (GRCm39) L7Q unknown Het
Nlrp2 T C 7: 5,340,808 (GRCm39) E2G probably damaging Het
Or11g1 A G 14: 50,651,654 (GRCm39) I218V possibly damaging Het
Or12k7 A G 2: 36,959,091 (GRCm39) Y258C possibly damaging Het
Or2y16 T C 11: 49,335,299 (GRCm39) V207A probably benign Het
Or6z5 C T 7: 6,477,835 (GRCm39) A242V probably damaging Het
Parn T C 16: 13,469,675 (GRCm39) T209A possibly damaging Het
Psip1 T A 4: 83,391,286 (GRCm39) probably null Het
Ptprc A C 1: 137,995,628 (GRCm39) C1157G probably damaging Het
Rad17 A C 13: 100,759,389 (GRCm39) V546G probably benign Het
Rc3h2 GCC GCCC 2: 37,304,745 (GRCm39) probably null Het
Safb A G 17: 56,904,798 (GRCm39) E124G probably damaging Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Skint5 T C 4: 113,392,907 (GRCm39) T1242A unknown Het
Slc13a5 C T 11: 72,144,023 (GRCm39) E352K probably benign Het
Sohlh2 G T 3: 55,104,419 (GRCm39) V263F probably benign Het
Strn A G 17: 79,008,298 (GRCm39) Y107H probably damaging Het
Tbx15 G T 3: 99,161,203 (GRCm39) E3* probably null Het
Tespa1 A G 10: 130,183,172 (GRCm39) D39G probably benign Het
Trp73 A T 4: 154,188,798 (GRCm39) D54E probably damaging Het
Ttll5 A T 12: 85,980,151 (GRCm39) S912C probably damaging Het
Utp14b A T 1: 78,643,554 (GRCm39) D484V probably benign Het
Utp14b A C 1: 78,643,557 (GRCm39) N485T probably benign Het
Vmn2r29 T C 7: 7,234,369 (GRCm39) E839G probably benign Het
Vmn2r6 G C 3: 64,467,176 (GRCm39) P108A probably damaging Het
Vps8 T G 16: 21,314,682 (GRCm39) probably null Het
Zfp36l1 A T 12: 80,156,320 (GRCm39) probably null Het
Zfp998 T A 13: 66,579,608 (GRCm39) T292S probably benign Het
Zp3r A T 1: 130,519,305 (GRCm39) probably null Het
Other mutations in Mrto4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0083:Mrto4 UTSW 4 139,075,279 (GRCm39) missense possibly damaging 0.87
R0416:Mrto4 UTSW 4 139,077,043 (GRCm39) splice site probably null
R1959:Mrto4 UTSW 4 139,076,949 (GRCm39) missense probably damaging 0.98
R2062:Mrto4 UTSW 4 139,076,334 (GRCm39) missense probably benign 0.03
R2063:Mrto4 UTSW 4 139,076,334 (GRCm39) missense probably benign 0.03
R2065:Mrto4 UTSW 4 139,076,334 (GRCm39) missense probably benign 0.03
R2066:Mrto4 UTSW 4 139,076,334 (GRCm39) missense probably benign 0.03
R2067:Mrto4 UTSW 4 139,076,334 (GRCm39) missense probably benign 0.03
R5217:Mrto4 UTSW 4 139,075,770 (GRCm39) missense probably benign 0.14
R5436:Mrto4 UTSW 4 139,075,276 (GRCm39) missense probably damaging 1.00
R7812:Mrto4 UTSW 4 139,075,278 (GRCm39) missense possibly damaging 0.77
R7944:Mrto4 UTSW 4 139,077,000 (GRCm39) missense probably benign 0.01
R9774:Mrto4 UTSW 4 139,075,287 (GRCm39) missense probably benign 0.12
R9803:Mrto4 UTSW 4 139,076,381 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TAGCATCACCTGGTCCTAGGTC -3'
(R):5'- GAAAGCAAACGCTCTGTCAG -3'

Sequencing Primer
(F):5'- CCTAGGTCATAGGGATGCTGTG -3'
(R):5'- CCTTGAATGCCAGGAATGACTGTC -3'
Posted On 2017-10-10