Incidental Mutation 'R4527:Mak16'
ID 334486
Institutional Source Beutler Lab
Gene Symbol Mak16
Ensembl Gene ENSMUSG00000031578
Gene Name MAK16 homolog
Synonyms Rbm13, 2600016B03Rik
MMRRC Submission 041768-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R4527 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 31649496-31658752 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 31656205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 93 (Q93*)
Ref Sequence ENSEMBL: ENSMUSP00000033983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033983] [ENSMUST00000098842] [ENSMUST00000209986] [ENSMUST00000210129]
AlphaFold Q8BGS0
Predicted Effect probably null
Transcript: ENSMUST00000033983
AA Change: Q93*
SMART Domains Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578
AA Change: Q93*

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

Pfam:DUF2454 208 397 7.1e-17 PFAM
low complexity region 426 436 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209991
Predicted Effect probably benign
Transcript: ENSMUST00000210129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210450
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg2 A G 5: 137,682,798 (GRCm39) V15A unknown Het
Asb3 A G 11: 31,008,933 (GRCm39) D278G probably benign Het
Atrn T C 2: 130,815,424 (GRCm39) I780T probably benign Het
Car2 C T 3: 14,963,065 (GRCm39) P200L probably damaging Het
Cars1 A T 7: 143,118,786 (GRCm39) M668K probably benign Het
Cer1 A G 4: 82,802,906 (GRCm39) F139L possibly damaging Het
Crhr2 T A 6: 55,109,838 (GRCm39) probably benign Het
Dnah7c G A 1: 46,572,091 (GRCm39) E855K probably benign Het
Espn C T 4: 152,220,106 (GRCm39) R339Q probably damaging Het
Flt3 T A 5: 147,293,163 (GRCm39) E481V probably benign Het
Gorab T G 1: 163,224,705 (GRCm39) K32T possibly damaging Het
Muc4 T C 16: 32,576,217 (GRCm39) probably benign Het
Neb A T 2: 52,083,249 (GRCm39) I5409N probably benign Het
Olfm4 C T 14: 80,258,664 (GRCm39) S304F probably benign Het
Pask A G 1: 93,248,224 (GRCm39) F1026L probably benign Het
Rab11a A G 9: 64,632,850 (GRCm39) S19P probably benign Het
Rab11fip3 T C 17: 26,255,631 (GRCm39) D541G probably damaging Het
Rnf10 T C 5: 115,398,210 (GRCm39) S108G probably damaging Het
Rps4l-ps C T 7: 114,526,403 (GRCm39) noncoding transcript Het
Shank1 A T 7: 44,004,014 (GRCm39) H1902L possibly damaging Het
Slc8a3 T C 12: 81,362,627 (GRCm39) Y64C probably damaging Het
Sorbs3 A C 14: 70,445,066 (GRCm39) I4S probably damaging Het
St18 A G 1: 6,925,647 (GRCm39) N935S probably damaging Het
Taf4b T C 18: 14,954,499 (GRCm39) V525A probably damaging Het
Timm10b A G 7: 105,332,013 (GRCm39) N828S probably benign Het
Ttyh1 A T 7: 4,122,763 (GRCm39) D4V probably damaging Het
Usp34 T A 11: 23,371,257 (GRCm39) L53Q possibly damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn2r70 A T 7: 85,208,787 (GRCm39) N563K probably damaging Het
Xrcc5 C A 1: 72,351,659 (GRCm39) N76K probably damaging Het
Zscan25 T C 5: 145,220,268 (GRCm39) V21A probably damaging Het
Other mutations in Mak16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Mak16 APN 8 31,656,778 (GRCm39) missense probably benign
IGL02071:Mak16 APN 8 31,650,557 (GRCm39) missense probably benign 0.00
IGL02457:Mak16 APN 8 31,654,753 (GRCm39) missense possibly damaging 0.83
IGL02486:Mak16 APN 8 31,650,614 (GRCm39) intron probably benign
FR4342:Mak16 UTSW 8 31,651,777 (GRCm39) missense probably benign 0.00
R4807:Mak16 UTSW 8 31,656,161 (GRCm39) missense probably benign 0.25
R7178:Mak16 UTSW 8 31,656,602 (GRCm39) missense probably benign 0.06
R7315:Mak16 UTSW 8 31,654,766 (GRCm39) nonsense probably null
R7366:Mak16 UTSW 8 31,656,127 (GRCm39) missense possibly damaging 0.88
R8311:Mak16 UTSW 8 31,658,697 (GRCm39) missense probably damaging 1.00
R9387:Mak16 UTSW 8 31,650,794 (GRCm39) missense probably damaging 1.00
R9690:Mak16 UTSW 8 31,650,798 (GRCm39) missense probably damaging 1.00
Z1088:Mak16 UTSW 8 31,656,123 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-08-18