Incidental Mutation 'R9690:Mak16'
ID 729107
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 # R9690 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 31159463-31168764 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31160770 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 231 (S231G)
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: S231G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033983
Gene: ENSMUSG00000031578
AA Change: S231G

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: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 T A 2: 35,100,588 E22D probably benign Het
Apbb2 C T 5: 66,452,178 R42H probably damaging Het
Atf2 A T 2: 73,845,469 S179R probably benign Het
Cage1 A G 13: 38,019,165 probably null Het
Cnnm1 A G 19: 43,471,906 T696A probably benign Het
Cyp4f17 T A 17: 32,506,976 S28T probably benign Het
Ddx59 T A 1: 136,424,802 I327K probably damaging Het
Ep300 A C 15: 81,636,195 Q1229P unknown Het
Epb41l1 A T 2: 156,514,118 I525F probably damaging Het
Epha8 G T 4: 136,938,586 L420M probably damaging Het
Fam83b A G 9: 76,491,220 I867T probably benign Het
Gapvd1 C T 2: 34,728,480 V294I probably damaging Het
Gm5798 T G 14: 41,348,639 F2C probably damaging Het
Gm6583 T C 5: 112,355,434 T135A probably benign Het
Grip1 G A 10: 120,038,664 E778K possibly damaging Het
Irgq G T 7: 24,534,155 A474S probably benign Het
Itih3 T C 14: 30,918,307 K348R probably benign Het
Kcnip4 T A 5: 48,398,504 N154I probably damaging Het
Letm2 T A 8: 25,587,419 K218N probably damaging Het
Med13 A T 11: 86,278,844 I1898K probably damaging Het
Mpp5 T A 12: 78,819,343 V314D probably damaging Het
Myh13 C T 11: 67,358,368 L1305F probably damaging Het
Nynrin T C 14: 55,870,747 Y1104H probably benign Het
Olfm3 A T 3: 115,096,944 L115F probably benign Het
Olfm3 A T 3: 115,096,945 K116* probably null Het
Olfr1277 C T 2: 111,269,477 A297T probably damaging Het
Olfr153 C A 2: 87,532,415 N127K probably benign Het
Olfr339 T A 2: 36,421,518 L40Q probably damaging Het
Olfr918 C A 9: 38,673,181 E88* probably null Het
Proc C T 18: 32,123,318 G432D probably damaging Het
Ptpn20 T C 14: 33,631,219 V305A probably benign Het
Rmnd5b T C 11: 51,627,684 M122V probably benign Het
Sema4f A T 6: 82,935,671 N130K probably damaging Het
Sipa1l2 T C 8: 125,492,257 I114V probably benign Het
Soga1 A T 2: 157,020,214 D1598E probably benign Het
Spata16 A T 3: 26,913,283 D394V probably damaging Het
Spidr T C 16: 16,140,785 T38A probably damaging Het
Tnxb T C 17: 34,717,197 Y2703H probably damaging Het
Trmt11 A C 10: 30,560,942 D267E probably damaging Het
Tspyl5 C A 15: 33,687,287 A171S probably benign Het
Uchl5 T C 1: 143,794,278 V83A Het
Vmn1r87 A G 7: 13,132,336 I8T probably benign Het
Vmn2r53 A G 7: 12,581,985 S636P 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
R9387:Mak16 UTSW 8 31160766 missense probably damaging 1.00
Z1088:Mak16 UTSW 8 31166095 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGGAAAGTGCAAGCCTT -3'
(R):5'- GGCGACATTATTTCCATCACC -3'

Sequencing Primer
(F):5'- GGAAAGTGCAAGCCTTCTCCTAC -3'
(R):5'- TATGTGTGAACCTTGAGAGTAATAGG -3'
Posted On 2022-10-06