Incidental Mutation 'R0119:Mss51'
ID 21000
Institutional Source Beutler Lab
Gene Symbol Mss51
Ensembl Gene ENSMUSG00000021815
Gene Name MSS51 mitochondrial translational activator
Synonyms Zmynd17, 4833444M15Rik
MMRRC Submission 038405-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R0119 (G1)
Quality Score 225
Status Validated (trace)
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: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.2%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,602,553 (GRCm39) Q87* probably null Het
Abca13 G A 11: 9,248,076 (GRCm39) E2608K probably benign Het
Acad9 T C 3: 36,139,564 (GRCm39) V388A probably damaging Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adamts18 A G 8: 114,501,585 (GRCm39) I346T possibly damaging Het
Adcy8 T A 15: 64,588,015 (GRCm39) D894V probably damaging Het
Ap3d1 A G 10: 80,559,449 (GRCm39) probably benign Het
Arg2 A G 12: 79,194,386 (GRCm39) D70G probably damaging Het
Cap1 A T 4: 122,761,492 (GRCm39) L130Q probably damaging Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Caskin2 A G 11: 115,693,253 (GRCm39) probably benign Het
Cd69 C T 6: 129,247,025 (GRCm39) S64N probably benign Het
Cd96 T C 16: 45,858,942 (GRCm39) probably benign Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Ces1c A T 8: 93,833,345 (GRCm39) probably benign Het
Ces1c A T 8: 93,834,238 (GRCm39) L351M probably benign Het
Cnih3 T A 1: 181,282,309 (GRCm39) probably benign Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Cry1 A G 10: 84,969,104 (GRCm39) probably null Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Defb13 T C 8: 22,436,877 (GRCm39) probably benign 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
Elmo3 T C 8: 106,036,400 (GRCm39) L668S probably damaging Het
Elp2 T C 18: 24,767,466 (GRCm39) I716T probably benign Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gm6327 T C 16: 12,579,061 (GRCm39) noncoding transcript Het
Gm839 A T 6: 89,189,362 (GRCm39) noncoding transcript Het
Gng5 T A 3: 146,209,048 (GRCm39) C39S probably damaging Het
Gpr55 C T 1: 85,869,146 (GRCm39) W145* probably null Het
Hdlbp A C 1: 93,349,059 (GRCm39) probably benign Het
Man2a2 G T 7: 80,017,153 (GRCm39) N305K probably damaging Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Mier3 T C 13: 111,851,572 (GRCm39) V490A probably damaging Het
Mpdz T C 4: 81,210,768 (GRCm39) T1693A probably benign Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Mug2 T A 6: 122,013,022 (GRCm39) H311Q probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nisch A G 14: 30,893,881 (GRCm39) Y1231H probably damaging Het
Obox3 T A 7: 15,360,252 (GRCm39) probably null Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or1e34 C T 11: 73,778,656 (GRCm39) V181I probably benign Het
Pcdh15 T C 10: 74,006,407 (GRCm39) F95S probably damaging Het
Pcsk6 T C 7: 65,688,791 (GRCm39) V820A probably benign Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Pdgfrb T A 18: 61,201,924 (GRCm39) V496E probably benign Het
Per3 A G 4: 151,109,005 (GRCm39) probably benign Het
Pip4k2b A T 11: 97,613,762 (GRCm39) probably benign Het
Podn G T 4: 107,878,791 (GRCm39) L359I probably damaging Het
Rad21 A T 15: 51,828,426 (GRCm39) D547E probably benign Het
Rere T G 4: 150,699,779 (GRCm39) 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
Sh3bgrl3 A T 4: 133,855,347 (GRCm39) I33N probably damaging Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Sppl3 T A 5: 115,227,053 (GRCm39) probably benign Het
Tacc2 C A 7: 130,223,605 (GRCm39) Q116K probably damaging Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tnpo3 A G 6: 29,568,921 (GRCm39) V477A possibly damaging Het
Trim7 G T 11: 48,740,539 (GRCm39) R212L probably damaging Het
Trpm6 T A 19: 18,809,957 (GRCm39) C1118S probably benign Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Vmn1r27 A G 6: 58,192,704 (GRCm39) F100S possibly damaging Het
Zbtb18 A G 1: 177,275,723 (GRCm39) E361G probably benign Het
Zzef1 T C 11: 72,712,677 (GRCm39) V199A probably benign 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
R0299: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 2013-04-11