Incidental Mutation 'IGL00487:Mak16'
ID 5048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mak16
Ensembl Gene ENSMUSG00000031578
Gene Name MAK16 homolog
Synonyms 2600016B03Rik, Rbm13
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL00487
Quality Score
Status
Chromosome 8
Chromosomal Location 31159463-31168764 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31166750 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 9 (N9D)
Ref Sequence ENSEMBL: ENSMUSP00000033983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033983] [ENSMUST00000098842] [ENSMUST00000209986] [ENSMUST00000210129]
AlphaFold Q8BGS0
Predicted Effect probably benign
Transcript: ENSMUST00000033983
AA Change: N9D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578
AA Change: N9D

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: 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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,309,450 probably null Het
Dusp23 T C 1: 172,631,632 probably benign Het
Invs C T 4: 48,407,689 Q555* probably null Het
Mrps7 T C 11: 115,604,858 I74T possibly damaging Het
Nlrp4a T G 7: 26,449,985 V339G possibly damaging Het
Nucb1 A G 7: 45,501,651 L102P probably damaging Het
Pdp2 T C 8: 104,594,197 M226T probably benign Het
Pik3r2 T C 8: 70,770,429 D449G probably damaging Het
Rnf157 G A 11: 116,362,355 P76S probably benign Het
Senp6 C A 9: 80,113,838 Q267K probably damaging Het
Slc9a2 A G 1: 40,742,658 E349G probably damaging Het
Snx14 G T 9: 88,402,190 S475Y probably damaging Het
Vmn1r180 A T 7: 23,952,523 H37L probably benign Het
Wdr66 T G 5: 123,274,177 I84S probably damaging Het
Xrn1 A T 9: 96,038,949 H1371L probably benign Het
Other mutations in Mak16
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9387:Mak16 UTSW 8 31160766 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
Posted On 2012-04-20