Incidental Mutation 'R0299:Mss51'
ID 24808
Institutional Source Beutler Lab
Gene Symbol Mss51
Ensembl Gene ENSMUSG00000021815
Gene Name MSS51 mitochondrial translational activator
Synonyms Zmynd17, 4833444M15Rik
MMRRC Submission 038513-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R0299 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 20532935-20546969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20534756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 338 (Q338L)
Ref Sequence ENSEMBL: ENSMUSP00000022353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022353] [ENSMUST00000065504] [ENSMUST00000100844] [ENSMUST00000224975] [ENSMUST00000225132]
AlphaFold Q9D5Z5
Predicted Effect possibly damaging
Transcript: ENSMUST00000022353
AA Change: Q338L

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022353
Gene: ENSMUSG00000021815
AA Change: Q338L

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Pfam:zf-MYND 104 148 3.4e-12 PFAM
low complexity region 308 317 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000065504
SMART Domains Protein: ENSMUSP00000066035
Gene: ENSMUSG00000021814

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 37 103 N/A INTRINSIC
low complexity region 111 129 N/A INTRINSIC
ANX 177 229 5.92e-26 SMART
ANX 249 301 3.12e-25 SMART
ANX 333 385 1.03e-11 SMART
ANX 408 460 2e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100844
SMART Domains Protein: ENSMUSP00000098405
Gene: ENSMUSG00000021814

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 37 103 N/A INTRINSIC
low complexity region 111 129 N/A INTRINSIC
ANX 177 229 5.92e-26 SMART
ANX 249 301 3.12e-25 SMART
ANX 333 385 1.03e-11 SMART
ANX 408 460 2e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224410
Predicted Effect probably benign
Transcript: ENSMUST00000224975
Predicted Effect probably benign
Transcript: ENSMUST00000225132
Meta Mutation Damage Score 0.0606 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.3%
  • 20x: 90.1%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,602,553 (GRCm39) Q87* probably null Het
4933427I04Rik A T 4: 123,754,615 (GRCm39) R176S possibly damaging Het
A2ml1 T G 6: 128,530,195 (GRCm39) probably benign Het
Abca13 G A 11: 9,248,076 (GRCm39) E2608K probably benign Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adcy8 T A 15: 64,588,015 (GRCm39) D894V probably damaging Het
Ap4b1 T C 3: 103,717,262 (GRCm39) M1T probably null Het
Arg2 A G 12: 79,194,386 (GRCm39) D70G probably damaging Het
Atxn1 A G 13: 45,720,645 (GRCm39) S417P probably damaging Het
Btbd10 A T 7: 112,929,085 (GRCm39) S230T possibly damaging Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Clec2h T C 6: 128,647,858 (GRCm39) V69A probably damaging Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Col16a1 TCCCC TCCC 4: 129,952,111 (GRCm39) probably null Het
Degs1 A T 1: 182,106,836 (GRCm39) I141N probably damaging Het
Dnah1 C T 14: 30,998,115 (GRCm39) G2574D probably damaging Het
Dnah8 T A 17: 30,934,483 (GRCm39) F1489L possibly damaging Het
Dock10 T C 1: 80,514,646 (GRCm39) R1424G probably damaging Het
Elp2 T C 18: 24,767,466 (GRCm39) I716T probably benign Het
Frk T C 10: 34,360,367 (GRCm39) probably null Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gin1 T A 1: 97,710,741 (GRCm39) S141R possibly damaging Het
Gm11596 G A 11: 99,683,770 (GRCm39) P117S unknown Het
Gm6327 T C 16: 12,579,061 (GRCm39) noncoding transcript Het
Hepacam2 A G 6: 3,476,121 (GRCm39) L268P probably damaging Het
Hps6 G A 19: 45,992,671 (GRCm39) V203M probably damaging Het
Hsd17b7 G A 1: 169,787,363 (GRCm39) probably benign Het
Il18rap A T 1: 40,564,218 (GRCm39) H112L probably benign Het
Il1r2 T A 1: 40,162,309 (GRCm39) Y317* probably null Het
Ints8 C A 4: 11,246,097 (GRCm39) V190L probably benign Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Mecom A G 3: 30,034,560 (GRCm39) L372P probably benign Het
Muc2 C T 7: 141,306,466 (GRCm39) T296I probably damaging Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nisch A G 14: 30,893,881 (GRCm39) Y1231H probably damaging Het
Or10ak14 A T 4: 118,611,732 (GRCm39) M1K probably null Het
Or10ak9 A G 4: 118,726,613 (GRCm39) I212V probably benign Het
Pcsk6 T C 7: 65,688,791 (GRCm39) V820A probably benign Het
Pdcd10 T C 3: 75,434,958 (GRCm39) K111R probably damaging Het
Pdgfrb T A 18: 61,201,924 (GRCm39) V496E probably benign Het
Pelo A T 13: 115,225,439 (GRCm39) C40* probably null Het
Plxnc1 C T 10: 94,685,683 (GRCm39) probably null Het
Ptpru G A 4: 131,530,698 (GRCm39) Q519* probably null Het
Pzp A G 6: 128,472,293 (GRCm39) probably benign Het
Rad21 A T 15: 51,828,426 (GRCm39) D547E probably benign Het
Serpina1d A T 12: 103,732,016 (GRCm39) L281Q probably damaging Het
Serpina9 T C 12: 103,967,729 (GRCm39) N222S probably benign Het
Sh3bgrl2 A G 9: 83,459,612 (GRCm39) K57E probably damaging Het
Shtn1 T C 19: 59,007,383 (GRCm39) E289G probably benign Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Slamf7 G A 1: 171,476,499 (GRCm39) probably benign Het
Sppl3 T A 5: 115,227,053 (GRCm39) probably benign Het
Suco G A 1: 161,681,379 (GRCm39) T253I probably benign Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tram2 T C 1: 21,074,468 (GRCm39) D238G probably damaging Het
Trpm3 T C 19: 22,964,237 (GRCm39) M1244T possibly damaging Het
Trub1 A G 19: 57,472,057 (GRCm39) T178A possibly damaging Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Vmn1r25 T A 6: 57,955,494 (GRCm39) Q265L probably damaging Het
Zfp821 G T 8: 110,450,862 (GRCm39) R285L probably damaging Het
Other mutations in Mss51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Mss51 APN 14 20,536,235 (GRCm39) missense probably damaging 0.98
IGL02138:Mss51 APN 14 20,534,923 (GRCm39) nonsense probably null
IGL03137:Mss51 APN 14 20,537,200 (GRCm39) missense probably damaging 0.98
IGL03194:Mss51 APN 14 20,535,165 (GRCm39) missense probably benign
IGL03225:Mss51 APN 14 20,537,205 (GRCm39) nonsense probably null
R0119:Mss51 UTSW 14 20,534,756 (GRCm39) missense possibly damaging 0.52
R0336:Mss51 UTSW 14 20,533,254 (GRCm39) missense possibly damaging 0.89
R0499:Mss51 UTSW 14 20,534,756 (GRCm39) missense possibly damaging 0.52
R0619:Mss51 UTSW 14 20,537,641 (GRCm39) missense probably benign
R0729:Mss51 UTSW 14 20,533,160 (GRCm39) missense probably damaging 1.00
R1835:Mss51 UTSW 14 20,533,246 (GRCm39) nonsense probably null
R1863:Mss51 UTSW 14 20,534,936 (GRCm39) missense probably damaging 0.98
R1986:Mss51 UTSW 14 20,533,259 (GRCm39) missense probably benign 0.00
R2137:Mss51 UTSW 14 20,537,591 (GRCm39) missense probably benign 0.02
R5611:Mss51 UTSW 14 20,533,174 (GRCm39) missense possibly damaging 0.69
R7272:Mss51 UTSW 14 20,534,981 (GRCm39) missense probably damaging 0.97
R8325:Mss51 UTSW 14 20,534,771 (GRCm39) missense possibly damaging 0.93
R8923:Mss51 UTSW 14 20,537,177 (GRCm39) missense possibly damaging 0.83
R9323:Mss51 UTSW 14 20,534,939 (GRCm39) missense probably benign 0.21
R9675:Mss51 UTSW 14 20,537,189 (GRCm39) missense probably damaging 0.98
Z1176:Mss51 UTSW 14 20,536,214 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCATGGGCAGTGACCAACCAA -3'
(R):5'- TGGTGCTTCCCACGTAGAGACATTT -3'

Sequencing Primer
(F):5'- tccagtaagaacaacccaacc -3'
(R):5'- CCACGTAGAGACATTTCTTATTCG -3'
Posted On 2013-04-16