Incidental Mutation 'R9690:Mak16'
ID 729107
Institutional Source Beutler Lab
Gene Symbol Mak16
Ensembl Gene ENSMUSG00000031578
Gene Name MAK16 homolog
Synonyms Rbm13, 2600016B03Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R9690 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 31649496-31658752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31650798 bp (GRCm39)
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: 34,990,600 (GRCm39) E22D probably benign Het
Apbb2 C T 5: 66,609,521 (GRCm39) R42H probably damaging Het
Atf2 A T 2: 73,675,813 (GRCm39) S179R probably benign Het
Cage1 A G 13: 38,203,141 (GRCm39) probably null Het
Ccdc121rt3 T C 5: 112,503,300 (GRCm39) T135A probably benign Het
Cnnm1 A G 19: 43,460,345 (GRCm39) T696A probably benign Het
Cyp4f17 T A 17: 32,725,950 (GRCm39) S28T probably benign Het
Ddx59 T A 1: 136,352,540 (GRCm39) I327K probably damaging Het
Ep300 A C 15: 81,520,396 (GRCm39) Q1229P unknown Het
Epb41l1 A T 2: 156,356,038 (GRCm39) I525F probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Fam83b A G 9: 76,398,502 (GRCm39) I867T probably benign Het
Gapvd1 C T 2: 34,618,492 (GRCm39) V294I probably damaging Het
Gm5798 T G 14: 41,070,596 (GRCm39) F2C probably damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Irgq G T 7: 24,233,580 (GRCm39) A474S probably benign Het
Itih3 T C 14: 30,640,264 (GRCm39) K348R probably benign Het
Kcnip4 T A 5: 48,555,846 (GRCm39) N154I probably damaging Het
Letm2 T A 8: 26,077,435 (GRCm39) K218N probably damaging Het
Med13 A T 11: 86,169,670 (GRCm39) I1898K probably damaging Het
Mtcl2 A T 2: 156,862,134 (GRCm39) D1598E probably benign Het
Myh13 C T 11: 67,249,194 (GRCm39) L1305F probably damaging Het
Nynrin T C 14: 56,108,204 (GRCm39) Y1104H probably benign Het
Olfm3 A T 3: 114,890,593 (GRCm39) L115F probably benign Het
Olfm3 A T 3: 114,890,594 (GRCm39) K116* probably null Het
Or1j11 T A 2: 36,311,530 (GRCm39) L40Q probably damaging Het
Or4k35 C T 2: 111,099,822 (GRCm39) A297T probably damaging Het
Or5w22 C A 2: 87,362,759 (GRCm39) N127K probably benign Het
Or8b3b C A 9: 38,584,477 (GRCm39) E88* probably null Het
Pals1 T A 12: 78,866,117 (GRCm39) V314D probably damaging Het
Proc C T 18: 32,256,371 (GRCm39) G432D probably damaging Het
Ptpn20 T C 14: 33,353,176 (GRCm39) V305A probably benign Het
Rmnd5b T C 11: 51,518,511 (GRCm39) M122V probably benign Het
Sema4f A T 6: 82,912,652 (GRCm39) N130K probably damaging Het
Sipa1l2 T C 8: 126,218,996 (GRCm39) I114V probably benign Het
Spata16 A T 3: 26,967,432 (GRCm39) D394V probably damaging Het
Spidr T C 16: 15,958,649 (GRCm39) T38A probably damaging Het
Tnxb T C 17: 34,936,171 (GRCm39) Y2703H probably damaging Het
Trmt11 A C 10: 30,436,938 (GRCm39) D267E probably damaging Het
Tspyl5 C A 15: 33,687,433 (GRCm39) A171S probably benign Het
Uchl5 T C 1: 143,670,016 (GRCm39) V83A Het
Vmn1r87 A G 7: 12,866,263 (GRCm39) I8T probably benign Het
Vmn2r53 A G 7: 12,315,912 (GRCm39) S636P 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
R4527:Mak16 UTSW 8 31,656,205 (GRCm39) nonsense probably null
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
Z1088:Mak16 UTSW 8 31,656,123 (GRCm39) 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