Incidental Mutation 'R9387:Mak16'
ID 710387
Institutional Source Beutler Lab
Gene Symbol Mak16
Ensembl Gene ENSMUSG00000031578
Gene Name MAK16 homolog
Synonyms 2600016B03Rik, Rbm13
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R9387 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 31159463-31168764 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 31160766 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 232 (D232A)
Ref Sequence ENSEMBL: ENSMUSP00000033983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033983] [ENSMUST00000098842] [ENSMUST00000209851] [ENSMUST00000209986] [ENSMUST00000210129]
AlphaFold Q8BGS0
Predicted Effect probably damaging
Transcript: ENSMUST00000033983
AA Change: D232A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578
AA Change: D232A

DomainStartEndE-ValueType
Pfam:Ribosomal_L28e 6 119 5e-40 PFAM
Pfam:Mak16 138 235 4.7e-36 PFAM
low complexity region 242 256 N/A INTRINSIC
low complexity region 258 272 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098842
SMART Domains Protein: ENSMUSP00000096441
Gene: ENSMUSG00000031577

DomainStartEndE-ValueType
Pfam:DUF2454 208 397 7.1e-17 PFAM
low complexity region 426 436 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209851
Predicted Effect probably benign
Transcript: ENSMUST00000209986
Predicted Effect probably benign
Transcript: ENSMUST00000210129
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,261,891 I1208V unknown Het
Abca17 T C 17: 24,334,281 D152G probably benign Het
Abcb1b G A 5: 8,825,614 V596I probably benign Het
Acss3 A G 10: 107,123,394 S64P probably damaging Het
Aggf1 T C 13: 95,370,953 Y108C probably damaging Het
Arpc5l T C 2: 39,013,183 V73A probably benign Het
Atp5d A G 10: 80,145,300 D126G probably damaging Het
Carmil3 T A 14: 55,494,412 L199* probably null Het
Cblb A G 16: 52,033,152 R44G probably benign Het
Chaf1b T G 16: 93,892,741 F225V probably benign Het
Creb3l2 A T 6: 37,379,816 N105K probably damaging Het
Dagla A T 19: 10,271,101 I65N probably damaging Het
Dclre1c T G 2: 3,424,305 F30V probably damaging Het
Dicer1 A G 12: 104,729,240 V144A possibly damaging Het
Dlg5 C T 14: 24,147,100 G1593D probably damaging Het
Enpp3 A T 10: 24,836,092 M1K probably null Het
Fmod C A 1: 134,040,776 H185N probably benign Het
Gon4l A G 3: 88,894,953 E957G probably benign Het
Hat1 A G 2: 71,434,168 M310V possibly damaging Het
Klhl31 A T 9: 77,650,544 T181S probably benign Het
Krt36 T A 11: 100,104,080 E222V probably damaging Het
Lrrc27 A T 7: 139,227,921 K315* probably null Het
Mepce A G 5: 137,785,060 S335P possibly damaging Het
Mki67 T A 7: 135,700,649 R885S probably damaging Het
Mmrn1 G A 6: 60,958,192 W224* probably null Het
Mroh8 T A 2: 157,256,466 Q254L possibly damaging Het
Mup18 A T 4: 61,672,617 V101E probably damaging Het
Nbea T C 3: 55,991,039 K1508R probably benign Het
Olfr1009 A G 2: 85,721,462 Y19C probably benign Het
Olfr1109 A T 2: 87,093,046 M117K possibly damaging Het
Pcdh15 A T 10: 74,230,360 I286F probably damaging Het
Pcdhb8 A T 18: 37,355,698 Q143L probably benign Het
Pibf1 T C 14: 99,211,000 S632P probably damaging Het
Senp6 A G 9: 80,092,364 K100R probably damaging Het
Slc5a9 A G 4: 111,893,667 S81P probably damaging Het
Sox8 T C 17: 25,567,364 Q455R probably damaging Het
Stard13 A T 5: 151,190,018 M26K probably benign Het
Sulf1 T A 1: 12,838,554 M597K probably benign Het
Ugt2a3 T A 5: 87,336,973 D64V probably benign Het
Unc80 T C 1: 66,549,938 probably null Het
Vav3 A T 3: 109,657,975 H729L probably benign Het
Vmn1r226 T A 17: 20,687,569 L21Q probably damaging Het
Wdtc1 A G 4: 133,308,747 probably null Het
Zfp984 A G 4: 147,755,545 M283T probably benign Het
Zik1 A G 7: 10,490,696 L158P probably damaging Het
Other mutations in Mak16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Mak16 APN 8 31166750 missense probably benign
IGL02071:Mak16 APN 8 31160529 missense probably benign 0.00
IGL02457:Mak16 APN 8 31164725 missense possibly damaging 0.83
IGL02486:Mak16 APN 8 31160586 intron probably benign
FR4342:Mak16 UTSW 8 31161749 missense probably benign 0.00
R4527:Mak16 UTSW 8 31166177 nonsense probably null
R4807:Mak16 UTSW 8 31166133 missense probably benign 0.25
R7178:Mak16 UTSW 8 31166574 missense probably benign 0.06
R7315:Mak16 UTSW 8 31164738 nonsense probably null
R7366:Mak16 UTSW 8 31166099 missense possibly damaging 0.88
R8311:Mak16 UTSW 8 31168669 missense probably damaging 1.00
R9690:Mak16 UTSW 8 31160770 missense probably damaging 1.00
Z1088:Mak16 UTSW 8 31166095 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCAGACCAGGGAAAGTGC -3'
(R):5'- TGTTGACTTTTACATGTGTCCCT -3'

Sequencing Primer
(F):5'- CAGGGAAAGTGCAAGCCTTCTC -3'
(R):5'- TATGTGTGAACCTTGAGAGTAATAGG -3'
Posted On 2022-04-18