Incidental Mutation 'R0499:Mss51'
ID 47052
Institutional Source Beutler Lab
Gene Symbol Mss51
Ensembl Gene ENSMUSG00000021815
Gene Name MSS51 mitochondrial translational activator
Synonyms Zmynd17, 4833444M15Rik
MMRRC Submission 038695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R0499 (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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 99% (97/98)
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,139,564 (GRCm39) V388A probably damaging Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adap2 A T 11: 80,066,905 (GRCm39) R276S probably damaging Het
Agbl3 A T 6: 34,816,270 (GRCm39) M727L probably benign Het
Ahnak T A 19: 8,977,628 (GRCm39) probably benign Het
Ankmy1 G T 1: 92,813,948 (GRCm39) D410E probably damaging Het
Ankra2 T C 13: 98,402,962 (GRCm39) S70P probably damaging Het
Aox4 T C 1: 58,302,556 (GRCm39) probably null Het
Arl13b G A 16: 62,622,096 (GRCm39) T399I probably benign Het
Atad2 A T 15: 57,966,636 (GRCm39) D652E possibly damaging Het
Atad2 T G 15: 57,984,345 (GRCm39) M328L probably benign Het
Ccnb1 T C 13: 100,916,642 (GRCm39) probably null Het
Ccr2 G C 9: 123,905,976 (GRCm39) K85N possibly damaging Het
Ccr2 A T 9: 123,906,163 (GRCm39) T148S possibly damaging Het
Cdc20b T C 13: 113,192,484 (GRCm39) V59A probably benign Het
Cdin1 C T 2: 115,473,172 (GRCm39) R101W probably damaging Het
Cdkl3 T C 11: 51,923,243 (GRCm39) S507P possibly damaging Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Ces1g A G 8: 94,060,317 (GRCm39) F101L probably benign Het
Cimap1d T C 10: 79,476,099 (GRCm39) D155G probably damaging Het
Cntnap3 C T 13: 65,006,492 (GRCm39) D107N probably benign Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Col27a1 A G 4: 63,218,978 (GRCm39) probably benign Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Cstf3 A G 2: 104,479,950 (GRCm39) I272M possibly damaging Het
Cyp2d40 T C 15: 82,645,418 (GRCm39) T150A probably benign Het
Dnah8 T A 17: 30,934,483 (GRCm39) F1489L possibly damaging Het
Dop1b A T 16: 93,567,325 (GRCm39) T1251S probably benign Het
Dtx2 G A 5: 136,057,957 (GRCm39) G421R probably damaging Het
Epb41l3 T A 17: 69,554,654 (GRCm39) D251E probably benign Het
Erg A C 16: 95,161,842 (GRCm39) Y305* probably null Het
Exosc4 G A 15: 76,213,766 (GRCm39) A197T probably benign Het
Fam227b T A 2: 125,942,829 (GRCm39) I323L probably benign Het
Far1 G T 7: 113,153,503 (GRCm39) probably benign Het
Fmod A G 1: 133,968,934 (GRCm39) I325V possibly damaging Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gm4076 G T 13: 85,275,345 (GRCm39) noncoding transcript Het
Gm5134 A T 10: 75,828,359 (GRCm39) Y313F probably benign Het
H2-Q6 T A 17: 35,644,179 (GRCm39) F54I probably damaging Het
Hcrtr2 C A 9: 76,161,954 (GRCm39) L145F probably damaging Het
Hepacam2 A G 6: 3,476,121 (GRCm39) L268P probably damaging Het
Herc2 C A 7: 55,834,117 (GRCm39) C3107* probably null Het
Herc4 T C 10: 63,099,811 (GRCm39) V78A probably damaging Het
Hyal5 T C 6: 24,877,920 (GRCm39) W339R probably damaging Het
Igfbp6 T A 15: 102,056,419 (GRCm39) probably null 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
Ipo11 T C 13: 107,061,595 (GRCm39) T22A probably benign Het
Itgb4 C A 11: 115,870,521 (GRCm39) R117S probably benign Het
Lcorl C G 5: 45,891,711 (GRCm39) G214A probably benign Het
Lgals3bp T A 11: 118,289,019 (GRCm39) probably null Het
Lyst T A 13: 13,791,298 (GRCm39) L54I probably damaging Het
Mcm9 T C 10: 53,414,250 (GRCm39) T1015A probably benign Het
Mef2d T A 3: 88,063,825 (GRCm39) I84N probably damaging Het
Mmrn2 A G 14: 34,119,913 (GRCm39) N261S probably damaging Het
Mpdz T C 4: 81,210,768 (GRCm39) T1693A probably benign Het
Mstn T A 1: 53,103,143 (GRCm39) Y160N probably damaging Het
Muc6 T C 7: 141,226,735 (GRCm39) T1431A probably benign Het
Nek9 A T 12: 85,348,657 (GRCm39) M959K probably benign Het
Or2ak6 G A 11: 58,593,069 (GRCm39) V181I probably benign Het
Or4f58 A T 2: 111,851,777 (GRCm39) C141S probably damaging Het
Or8b47 A T 9: 38,435,801 (GRCm39) M258L probably benign Het
Otog G T 7: 45,923,256 (GRCm39) G1044W probably damaging Het
Pcdh9 G A 14: 94,123,671 (GRCm39) T833M probably damaging Het
Pdcd10 T C 3: 75,434,958 (GRCm39) K111R probably damaging Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Plekhg1 T C 10: 3,887,971 (GRCm39) V355A probably damaging Het
Podn G T 4: 107,878,791 (GRCm39) L359I probably damaging Het
Psd T C 19: 46,310,600 (GRCm39) E483G probably damaging Het
Ptch2 T A 4: 116,968,340 (GRCm39) L905* probably null Het
Rxfp2 T A 5: 149,989,880 (GRCm39) N420K probably damaging Het
Scpppq1 C A 5: 104,222,747 (GRCm39) G24* probably null Het
Sde2 T A 1: 180,689,992 (GRCm39) D237E 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
Shc3 C T 13: 51,634,264 (GRCm39) probably benign Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Slc23a2 A G 2: 131,913,937 (GRCm39) L280P probably damaging Het
Smchd1 G T 17: 71,694,083 (GRCm39) Q1221K probably benign Het
Spmip2 T A 3: 79,313,093 (GRCm39) W56R probably damaging Het
Spocd1 A G 4: 129,849,263 (GRCm39) N694S possibly damaging Het
Styxl2 C A 1: 165,926,670 (GRCm39) V981L probably benign Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tmem131 A T 1: 36,880,754 (GRCm39) V172D probably damaging Het
Trpm3 T C 19: 22,964,237 (GRCm39) M1244T possibly damaging Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Usp17le T C 7: 104,417,708 (GRCm39) N478S probably benign Het
Usp36 A G 11: 118,164,397 (GRCm39) V205A probably damaging Het
Vmn1r25 T A 6: 57,955,494 (GRCm39) Q265L probably damaging Het
Vwf A T 6: 125,615,077 (GRCm39) H1176L probably benign Het
Zfyve28 C T 5: 34,389,550 (GRCm39) D217N possibly damaging Het
Zranb3 A C 1: 127,882,817 (GRCm39) probably null 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
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
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 2013-06-12