Incidental Mutation 'IGL00487:Mak16'
ID5048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mak16
Ensembl Gene ENSMUSG00000031578
Gene NameMAK16 homolog
Synonyms2600016B03Rik, Rbm13
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #IGL00487
Quality Score
Status
Chromosome8
Chromosomal Location31159463-31168764 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31166750 bp
ZygosityHeterozygous
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]
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
Z1088:Mak16 UTSW 8 31166095 missense probably damaging 1.00
Posted On2012-04-20