Incidental Mutation 'R8072:Apol6'
ID 620302
Institutional Source Beutler Lab
Gene Symbol Apol6
Ensembl Gene ENSMUSG00000033576
Gene Name apolipoprotein L 6
Synonyms 2310076O14Rik
MMRRC Submission 067507-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8072 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 76929195-76941308 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76935303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 191 (T191S)
Ref Sequence ENSEMBL: ENSMUSP00000120866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127957] [ENSMUST00000129468] [ENSMUST00000142405] [ENSMUST00000149569] [ENSMUST00000152949] [ENSMUST00000166179] [ENSMUST00000229423]
AlphaFold B7ZC55
Predicted Effect probably benign
Transcript: ENSMUST00000127957
AA Change: T191S

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000118257
Gene: ENSMUSG00000033576
AA Change: T191S

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 probably benign
Transcript: ENSMUST00000142405
SMART Domains Protein: ENSMUSP00000117135
Gene: ENSMUSG00000033576

DomainStartEndE-ValueType
low complexity region 22 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149569
AA Change: T191S

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000120866
Gene: ENSMUSG00000033576
AA Change: T191S

DomainStartEndE-ValueType
Pfam:ApoL 10 290 7e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152949
AA Change: T191S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000121308
Gene: ENSMUSG00000033576
AA Change: T191S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,244,574 (GRCm39) S2146P probably benign Het
Acad9 G A 3: 36,129,404 (GRCm39) V160I probably benign Het
Ace T C 11: 105,863,785 (GRCm39) V411A probably damaging Het
Ankrd66 T C 17: 43,854,526 (GRCm39) E2G possibly damaging Het
Arhgef17 T A 7: 100,531,004 (GRCm39) T352S probably benign Het
Atad2 C T 15: 57,963,374 (GRCm39) R1081Q possibly damaging Het
Atg3 G T 16: 45,008,048 (GRCm39) V297F probably damaging Het
Atp9b A C 18: 80,808,276 (GRCm39) S663A Het
Col10a1 G T 10: 34,266,663 (GRCm39) V16F unknown Het
Col3a1 G A 1: 45,360,734 (GRCm39) V55I unknown Het
Ctns T C 11: 73,082,572 (GRCm39) T53A probably benign Het
Cyp2b23 A T 7: 26,365,431 (GRCm39) I468N probably damaging Het
Dcbld2 G A 16: 58,283,460 (GRCm39) W565* probably null Het
Esco2 A T 14: 66,070,130 (GRCm39) N16K probably benign Het
Fggy A G 4: 95,732,394 (GRCm39) N462D possibly damaging Het
Fhod3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 18: 25,153,722 (GRCm39) probably benign Het
Gm4846 T C 1: 166,322,241 (GRCm39) T109A probably benign Het
H2-M11 G T 17: 36,859,026 (GRCm39) V189L probably benign Het
Hmcn1 T A 1: 150,532,256 (GRCm39) T3175S possibly damaging Het
Hook2 G A 8: 85,721,120 (GRCm39) V184M probably benign Het
Hspa4l A T 3: 40,741,178 (GRCm39) D730V probably damaging Het
Igkv4-68 C T 6: 69,282,113 (GRCm39) M19I probably benign Het
Igsf9b C A 9: 27,228,660 (GRCm39) T140N possibly damaging Het
Kcnj1 G A 9: 32,308,593 (GRCm39) R339Q probably damaging Het
Lcn8 T G 2: 25,545,184 (GRCm39) L118W probably damaging Het
Lin28a A G 4: 133,745,453 (GRCm39) F47L possibly damaging Het
Loxl4 T C 19: 42,596,021 (GRCm39) E144G probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrgprb1 C A 7: 48,097,895 (GRCm39) E6* probably null Het
Mthfsd A C 8: 121,825,555 (GRCm39) Y339D probably damaging Het
Mup11 A T 4: 60,615,777 (GRCm39) F153L probably damaging Het
Pcdhac2 G A 18: 37,278,717 (GRCm39) V566M probably benign Het
Plpp7 G T 2: 31,986,121 (GRCm39) A100S probably benign Het
Prg4 T C 1: 150,331,774 (GRCm39) T300A possibly damaging Het
Ptprd A G 4: 76,004,273 (GRCm39) F161L probably benign Het
Pwp2 G A 10: 78,007,930 (GRCm39) A875V possibly damaging Het
Rhd A G 4: 134,611,460 (GRCm39) T207A possibly damaging Het
Sh2d3c C T 2: 32,643,150 (GRCm39) R778C probably damaging Het
Slc34a3 A C 2: 25,119,289 (GRCm39) V527G probably benign Het
Smad2 T C 18: 76,420,022 (GRCm39) probably null Het
Sp110 GTACT GTACTACT 1: 85,515,207 (GRCm39) probably benign Het
Spata21 C T 4: 140,839,317 (GRCm39) Q611* probably null Het
Taf4b A G 18: 14,954,585 (GRCm39) T554A probably benign Het
Tial1 T C 7: 128,044,194 (GRCm39) T107A unknown Het
Ubxn6 C A 17: 56,380,195 (GRCm39) R42L probably benign Het
Vmn2r90 A T 17: 17,947,142 (GRCm39) N473I probably damaging Het
Ythdc1 T A 5: 86,969,133 (GRCm39) Y351* probably null 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
R0350:Apol6 UTSW 15 76,935,147 (GRCm39) nonsense 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
R9010:Apol6 UTSW 15 76,935,697 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CGCAATAAAAGAGCCCTTGC -3'
(R):5'- CAAGCTCTGTTGGGTTTGCC -3'

Sequencing Primer
(F):5'- TTGCTCAGGTCAACAGCATCATG -3'
(R):5'- CCCAGAGAGTATATATGTCCTGGC -3'
Posted On 2020-01-23