Incidental Mutation 'R0350:Apol6'
ID 29671
Institutional Source Beutler Lab
Gene Symbol Apol6
Ensembl Gene ENSMUSG00000033576
Gene Name apolipoprotein L 6
Synonyms 2310076O14Rik
MMRRC Submission 038557-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R0350 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 76929195-76941308 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 76935147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 139 (Q139*)
Ref Sequence ENSEMBL: ENSMUSP00000121308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127957] [ENSMUST00000129468] [ENSMUST00000142405] [ENSMUST00000149569] [ENSMUST00000152949] [ENSMUST00000166179] [ENSMUST00000229423]
AlphaFold B7ZC55
Predicted Effect probably null
Transcript: ENSMUST00000127957
AA Change: Q139*
SMART Domains Protein: ENSMUSP00000118257
Gene: ENSMUSG00000033576
AA Change: Q139*

DomainStartEndE-ValueType
Pfam:ApoL 15 290 4.1e-76 PFAM
transmembrane domain 294 311 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139304
Predicted Effect probably benign
Transcript: ENSMUST00000142405
SMART Domains Protein: ENSMUSP00000117135
Gene: ENSMUSG00000033576

DomainStartEndE-ValueType
low complexity region 22 43 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148197
Predicted Effect probably null
Transcript: ENSMUST00000149569
AA Change: Q139*
SMART Domains Protein: ENSMUSP00000120866
Gene: ENSMUSG00000033576
AA Change: Q139*

DomainStartEndE-ValueType
Pfam:ApoL 10 290 7e-98 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000152949
AA Change: Q139*
SMART Domains Protein: ENSMUSP00000121308
Gene: ENSMUSG00000033576
AA Change: Q139*

DomainStartEndE-ValueType
Pfam:ApoL 10 263 2.7e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166179
SMART Domains Protein: ENSMUSP00000128399
Gene: ENSMUSG00000018893

DomainStartEndE-ValueType
Pfam:Globin 7 113 1.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229423
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T A 8: 10,037,600 (GRCm39) Y66N probably damaging Het
Armh1 C A 4: 117,072,753 (GRCm39) E244* probably null Het
Cd1d1 A T 3: 86,904,880 (GRCm39) H219Q probably benign Het
Cdca2 A G 14: 67,950,568 (GRCm39) L121P probably benign Het
Cdin1 T C 2: 115,607,411 (GRCm39) Y255H possibly damaging Het
Cog4 T A 8: 111,580,328 (GRCm39) L133I possibly damaging Het
Csf1 T C 3: 107,655,922 (GRCm39) M370V probably benign Het
Ddi2 G A 4: 141,412,834 (GRCm39) T26M probably benign Het
Dhcr7 A G 7: 143,391,507 (GRCm39) D32G probably damaging Het
Efcab3 T C 11: 104,581,706 (GRCm39) V16A probably benign Het
Exd1 T C 2: 119,354,047 (GRCm39) N337S possibly damaging Het
Flii T C 11: 60,612,683 (GRCm39) D227G probably damaging Het
Hsf1 A G 15: 76,384,679 (GRCm39) T485A probably benign Het
Igfn1 G A 1: 135,884,505 (GRCm39) R2614* probably null Het
Iqch T C 9: 63,408,158 (GRCm39) T630A probably benign Het
Itgal T A 7: 126,921,253 (GRCm39) D770E probably damaging Het
Mroh1 T A 15: 76,316,449 (GRCm39) V759E probably damaging Het
Mrps17 A G 5: 129,795,209 (GRCm39) probably benign Het
Mtpap A G 18: 4,396,195 (GRCm39) S496G possibly damaging Het
Nkd1 T A 8: 89,311,844 (GRCm39) Y39* probably null Het
Nmd3 A G 3: 69,650,907 (GRCm39) Y359C probably damaging Het
Nr1h3 G A 2: 91,022,170 (GRCm39) L153F possibly damaging Het
Nuf2 T A 1: 169,341,112 (GRCm39) probably null Het
Or4b1b T C 2: 90,112,926 (GRCm39) probably null Het
Or4c113 T A 2: 88,885,700 (GRCm39) K23N probably benign Het
Or8b12i A T 9: 20,082,032 (GRCm39) Y278* probably null Het
Pnn T C 12: 59,113,903 (GRCm39) probably null Het
Ppm1j A G 3: 104,690,687 (GRCm39) D230G probably benign Het
Ppp1r15a A T 7: 45,172,442 (GRCm39) L650Q probably damaging Het
Prss37 T C 6: 40,491,893 (GRCm39) E229G probably damaging Het
Rbm19 T C 5: 120,266,372 (GRCm39) V465A possibly damaging Het
Rubcnl G T 14: 75,278,331 (GRCm39) V372F probably damaging Het
Sema6a G T 18: 47,403,785 (GRCm39) D595E probably benign Het
Slc35c1 A G 2: 92,289,377 (GRCm39) F43S probably damaging Het
Slc39a5 C T 10: 128,232,619 (GRCm39) probably null Het
Slco4c1 A G 1: 96,756,574 (GRCm39) F583L probably benign Het
Sox9 A G 11: 112,675,702 (GRCm39) Y297C probably damaging Het
Taf1b A G 12: 24,564,884 (GRCm39) D167G possibly damaging Het
Trpm6 T C 19: 18,861,321 (GRCm39) probably null Het
Uba6 A C 5: 86,292,237 (GRCm39) V402G possibly damaging Het
Usp43 T C 11: 67,767,324 (GRCm39) Y682C probably damaging Het
Vmn1r195 A G 13: 22,463,403 (GRCm39) D291G probably damaging Het
Xpr1 A T 1: 155,206,214 (GRCm39) F156Y probably damaging Het
Yju2b C T 8: 84,987,277 (GRCm39) E99K probably damaging Het
Zfp318 T A 17: 46,724,124 (GRCm39) H2042Q probably benign Het
Zfp937 T A 2: 150,081,222 (GRCm39) D417E possibly damaging Het
Other mutations in Apol6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01598:Apol6 APN 15 76,934,916 (GRCm39) missense probably damaging 1.00
IGL01788:Apol6 APN 15 76,935,216 (GRCm39) missense possibly damaging 0.81
FR4304:Apol6 UTSW 15 76,935,636 (GRCm39) frame shift probably null
FR4449:Apol6 UTSW 15 76,935,643 (GRCm39) nonsense probably null
FR4548:Apol6 UTSW 15 76,935,645 (GRCm39) frame shift probably null
FR4589:Apol6 UTSW 15 76,935,638 (GRCm39) frame shift probably null
FR4737:Apol6 UTSW 15 76,935,642 (GRCm39) frame shift probably null
R1167:Apol6 UTSW 15 76,931,308 (GRCm39) nonsense probably null
R1906:Apol6 UTSW 15 76,935,060 (GRCm39) missense probably damaging 0.99
R1996:Apol6 UTSW 15 76,934,956 (GRCm39) missense probably benign 0.28
R2097:Apol6 UTSW 15 76,931,333 (GRCm39) critical splice donor site probably null
R5611:Apol6 UTSW 15 76,935,240 (GRCm39) splice site probably null
R5980:Apol6 UTSW 15 76,935,219 (GRCm39) missense possibly damaging 0.66
R6191:Apol6 UTSW 15 76,940,098 (GRCm39) missense probably benign 0.00
R6300:Apol6 UTSW 15 76,935,471 (GRCm39) missense probably benign 0.01
R6519:Apol6 UTSW 15 76,935,476 (GRCm39) nonsense probably null
R7569:Apol6 UTSW 15 76,934,898 (GRCm39) unclassified probably benign
R8072:Apol6 UTSW 15 76,935,303 (GRCm39) missense probably benign 0.03
R9010:Apol6 UTSW 15 76,935,697 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGCTATCGCAGACCACATTGACG -3'
(R):5'- TGTGTTCAGCTAACACCCGCTC -3'

Sequencing Primer
(F):5'- AAAGTGGTGACTACCTCTGC -3'
(R):5'- CACTTCGAGCTGATACGTGG -3'
Posted On 2013-04-24