Incidental Mutation 'R6519:Apol6'
ID521038
Institutional Source Beutler Lab
Gene Symbol Apol6
Ensembl Gene ENSMUSG00000033576
Gene Nameapolipoprotein L 6
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #R6519 (G1)
Quality Score225.009
Status Validated
Chromosome15
Chromosomal Location77044729-77057106 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 77051276 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 248 (Y248*)
Ref Sequence ENSEMBL: ENSMUSP00000121308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127957] [ENSMUST00000129468] [ENSMUST00000142405] [ENSMUST00000149569] [ENSMUST00000152949] [ENSMUST00000166179] [ENSMUST00000229423]
Predicted Effect probably null
Transcript: ENSMUST00000127957
AA Change: Y248*
SMART Domains Protein: ENSMUSP00000118257
Gene: ENSMUSG00000033576
AA Change: Y248*

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 probably null
Transcript: ENSMUST00000149569
AA Change: Y248*
SMART Domains Protein: ENSMUSP00000120866
Gene: ENSMUSG00000033576
AA Change: Y248*

DomainStartEndE-ValueType
Pfam:ApoL 10 290 7e-98 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000152949
AA Change: Y248*
SMART Domains Protein: ENSMUSP00000121308
Gene: ENSMUSG00000033576
AA Change: Y248*

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,613,670 I53T probably damaging Het
Adgrv1 C T 13: 81,567,343 D909N probably benign Het
Ahdc1 T C 4: 133,064,768 Y1107H possibly damaging Het
Aldob A T 4: 49,543,835 V49E probably damaging Het
Apol7b T A 15: 77,423,348 T316S probably benign Het
Atp13a2 G C 4: 141,000,854 R503P possibly damaging Het
BC037034 A G 5: 138,261,848 S344P probably damaging Het
Brca2 A C 5: 150,540,979 T1403P probably damaging Het
Casc4 T C 2: 121,906,737 V141A probably benign Het
Cblc T C 7: 19,792,863 Y148C probably damaging Het
Cct7 C A 6: 85,462,150 Q149K probably benign Het
Cd53 T A 3: 106,762,145 H179L probably benign Het
Cyp2b19 A G 7: 26,759,111 T84A probably benign Het
Cyp3a41a A G 5: 145,715,498 C64R probably damaging Het
Dclre1c T C 2: 3,429,329 Y75H probably damaging Het
Dhx35 A T 2: 158,831,710 I354F probably damaging Het
Diaph3 T C 14: 86,966,335 N629S probably damaging Het
Dnase1 A T 16: 4,038,589 S132C probably damaging Het
Dnttip2 T C 3: 122,275,471 S112P probably benign Het
Eif4g3 C A 4: 137,994,008 P48T probably benign Het
Fat4 A T 3: 39,002,871 T4239S probably benign Het
Fbn2 A G 18: 58,063,575 V1419A possibly damaging Het
Ghitm A C 14: 37,125,247 M290R probably damaging Het
Glb1l T C 1: 75,201,056 D406G probably benign Het
Glipr1l1 C A 10: 112,062,248 A86D probably benign Het
Grm7 C T 6: 111,207,752 A348V probably benign Het
Gtf2h3 C T 5: 124,584,297 T121I probably benign Het
Hdac2 T A 10: 36,989,256 N155K probably damaging Het
Hus1b A G 13: 30,946,947 I243T probably benign Het
Kcnab2 T C 4: 152,411,993 T65A probably damaging Het
Lasp1 T A 11: 97,815,557 probably null Het
Lrch3 G A 16: 32,994,997 probably benign Het
Ltb4r2 C T 14: 55,762,981 T353M probably benign Het
Macf1 A G 4: 123,472,325 M1316T probably benign Het
Msr1 G A 8: 39,624,221 T116I probably benign Het
Nlrp5 A G 7: 23,417,918 I356V probably benign Het
Npy C T 6: 49,823,689 S31F possibly damaging Het
Nsd3 C T 8: 25,662,939 P432S probably damaging Het
Nup160 A C 2: 90,718,217 R1037S probably damaging Het
Olfr284 C T 15: 98,340,048 G314R probably benign Het
Olfr32 A T 2: 90,138,812 I109N possibly damaging Het
Olfr533 T A 7: 140,466,545 S115T probably benign Het
Pcx A G 19: 4,602,211 E108G possibly damaging Het
Pecam1 A T 11: 106,699,642 M102K probably benign Het
Pgd G T 4: 149,150,886 Y433* probably null Het
Pkd1l3 A G 8: 109,628,772 E744G probably benign Het
Rb1 A G 14: 73,298,063 I118T probably benign Het
Rdh11 T A 12: 79,182,815 H228L probably damaging Het
Rnf44 C T 13: 54,681,786 R340Q probably damaging Het
Rtraf A G 14: 19,819,930 V88A possibly damaging Het
Sigmar1 T C 4: 41,739,380 T185A possibly damaging Het
Thsd1 A G 8: 22,259,065 R590G probably damaging Het
Trbv19 T C 6: 41,178,639 probably benign Het
Txnrd3 T C 6: 89,654,423 probably null Het
Wwc1 C T 11: 35,853,437 E853K probably benign Het
Xpnpep1 T C 19: 53,011,844 N192D possibly damaging Het
Zfp955b T A 17: 33,302,077 S173R possibly damaging Het
Zranb1 T A 7: 132,950,128 C195* probably null Het
Other mutations in Apol6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01598:Apol6 APN 15 77050716 missense probably damaging 1.00
IGL01788:Apol6 APN 15 77051016 missense possibly damaging 0.81
FR4304:Apol6 UTSW 15 77051436 frame shift probably null
FR4449:Apol6 UTSW 15 77051443 nonsense probably null
FR4548:Apol6 UTSW 15 77051445 frame shift probably null
FR4589:Apol6 UTSW 15 77051438 frame shift probably null
FR4737:Apol6 UTSW 15 77051442 frame shift probably null
R0350:Apol6 UTSW 15 77050947 nonsense probably null
R1167:Apol6 UTSW 15 77047108 nonsense probably null
R1906:Apol6 UTSW 15 77050860 missense probably damaging 0.99
R1996:Apol6 UTSW 15 77050756 missense probably benign 0.28
R2097:Apol6 UTSW 15 77047133 critical splice donor site probably null
R5611:Apol6 UTSW 15 77051040 unclassified probably null
R5980:Apol6 UTSW 15 77051019 missense possibly damaging 0.66
R6191:Apol6 UTSW 15 77055898 missense probably benign 0.00
R6300:Apol6 UTSW 15 77051271 missense probably benign 0.01
R7569:Apol6 UTSW 15 77050698 unclassified probably benign
R8072:Apol6 UTSW 15 77051103 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGGGAACGCCTGGGATAATATC -3'
(R):5'- TCTTTCAAAACCTGGCCCTG -3'

Sequencing Primer
(F):5'- CGCCTGGGATAATATCAAAAAGC -3'
(R):5'- GGATCAGTCCTCAGCTCCAGAAG -3'
Posted On2018-06-06