Incidental Mutation 'R3809:Apol7e'
ID275130
Institutional Source Beutler Lab
Gene Symbol Apol7e
Ensembl Gene ENSMUSG00000071716
Gene Nameapolipoprotein L 7e
SynonymsENSMUSG00000071716
MMRRC Submission 040766-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #R3809 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location77698857-77719285 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 77718062 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 287 (T287S)
Ref Sequence ENSEMBL: ENSMUSP00000094085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096358]
Predicted Effect probably benign
Transcript: ENSMUST00000096358
AA Change: T287S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000094085
Gene: ENSMUSG00000071716
AA Change: T287S

DomainStartEndE-ValueType
Pfam:ApoL 20 82 2.3e-14 PFAM
Pfam:ApoL 77 367 6.9e-121 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230236
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,164,546 E685* probably null Het
2700049A03Rik A T 12: 71,164,547 E685V possibly damaging Het
3425401B19Rik T C 14: 32,663,693 Y105C possibly damaging Het
Arhgap12 A T 18: 6,037,057 N561K probably benign Het
Armc3 G T 2: 19,300,665 A757S probably damaging Het
Baz2b A T 2: 59,968,896 S295T probably benign Het
Brd4 T A 17: 32,211,270 K686N possibly damaging Het
Btnl6 T C 17: 34,508,228 T443A probably benign Het
Cacna1g T C 11: 94,416,096 T1801A probably damaging Het
Celsr2 G A 3: 108,403,239 T1509I possibly damaging Het
Cers1 A G 8: 70,330,010 D10G possibly damaging Het
Cntnap3 A G 13: 64,781,804 V527A probably damaging Het
Cog1 G T 11: 113,655,010 M370I probably benign Het
Col6a6 C G 9: 105,780,692 V774L probably damaging Het
Csf1r T A 18: 61,112,764 S264R probably benign Het
Ctnna2 A T 6: 76,954,757 V620D probably damaging Het
Eif2b4 A G 5: 31,191,168 S88P possibly damaging Het
Frmd4b G A 6: 97,323,729 L214F possibly damaging Het
Fstl1 T A 16: 37,826,751 L161Q probably damaging Het
Hdac1 A G 4: 129,524,320 F94S probably damaging Het
Hlf T C 11: 90,388,103 D45G probably benign Het
Hps3 A T 3: 20,018,812 M501K probably damaging Het
Ighv14-4 A G 12: 114,176,554 Y79H probably damaging Het
Ip6k1 T A 9: 108,045,887 V406D probably damaging Het
Iqcf1 T C 9: 106,501,878 S29P probably benign Het
Itga11 A G 9: 62,771,382 T944A probably benign Het
Kcnj12 A G 11: 61,070,277 N467S probably benign Het
Klhdc3 T A 17: 46,677,932 N111Y possibly damaging Het
Kmt2c T C 5: 25,409,138 R195G possibly damaging Het
Lin9 A G 1: 180,659,111 I81V probably null Het
Lrp2 T C 2: 69,501,548 D1621G probably damaging Het
Med15 C T 16: 17,655,734 probably benign Het
Neb A G 2: 52,256,789 I2821T possibly damaging Het
Olfr1217 G T 2: 89,023,426 H192Q probably benign Het
Olfr127 T C 17: 37,903,573 V9A probably benign Het
Olfr447 A T 6: 42,912,337 K271N probably damaging Het
Olfr657 A T 7: 104,636,333 I220L possibly damaging Het
Olfr918 C T 9: 38,672,863 V207I probably benign Het
Papd7 A G 13: 69,512,996 V51A probably damaging Het
Paxip1 A G 5: 27,772,029 probably benign Het
Pfas T C 11: 68,989,953 probably benign Het
Pfdn1 C T 18: 36,451,092 G63D probably damaging Het
Pgghg T C 7: 140,945,295 F405L probably damaging Het
Plcd3 T C 11: 103,101,383 M50V probably null Het
Plekha8 C A 6: 54,619,349 S198R probably benign Het
Ppp4c C T 7: 126,787,327 G166D probably damaging Het
Rassf2 T C 2: 131,998,260 probably null Het
Rnf217 T A 10: 31,503,808 I473F possibly damaging Het
Sec16a G C 2: 26,441,813 N63K possibly damaging Het
Sik3 A G 9: 46,219,486 D1240G probably benign Het
Slamf1 A G 1: 171,798,177 D307G probably null Het
Slc2a3 A G 6: 122,732,429 I337T probably benign Het
Svs1 C T 6: 48,987,994 P312L possibly damaging Het
Tinag C T 9: 76,951,905 D474N probably benign Het
Ublcp1 A G 11: 44,458,282 F242L probably benign Het
Ucp1 C A 8: 83,290,641 A20D probably damaging Het
Ugt1a7c C T 1: 88,095,382 R88W possibly damaging Het
Wipf3 A G 6: 54,481,795 D45G probably damaging Het
Zfp592 G A 7: 81,024,532 A415T probably benign Het
Other mutations in Apol7e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02110:Apol7e APN 15 77714348 critical splice acceptor site probably null
R0864:Apol7e UTSW 15 77717793 missense probably damaging 1.00
R1467:Apol7e UTSW 15 77717766 missense probably damaging 1.00
R1467:Apol7e UTSW 15 77717766 missense probably damaging 1.00
R1585:Apol7e UTSW 15 77717829 missense probably damaging 0.99
R1897:Apol7e UTSW 15 77717894 missense probably benign
R2047:Apol7e UTSW 15 77717610 missense probably benign 0.06
R2311:Apol7e UTSW 15 77718036 missense probably benign 0.14
R2895:Apol7e UTSW 15 77714467 missense possibly damaging 0.65
R3842:Apol7e UTSW 15 77717589 missense probably damaging 1.00
R5351:Apol7e UTSW 15 77718311 makesense probably null
R5629:Apol7e UTSW 15 77718076 missense probably benign 0.08
R5853:Apol7e UTSW 15 77714467 missense probably benign
R5882:Apol7e UTSW 15 77718247 missense probably benign
R6337:Apol7e UTSW 15 77714382 missense possibly damaging 0.80
R6826:Apol7e UTSW 15 77718291 missense probably damaging 0.99
R7422:Apol7e UTSW 15 77714352 nonsense probably null
R7458:Apol7e UTSW 15 77714404 missense probably benign 0.20
R7470:Apol7e UTSW 15 77717943 missense probably benign
R7492:Apol7e UTSW 15 77717456 missense possibly damaging 0.95
R8005:Apol7e UTSW 15 77718077 nonsense probably null
R8119:Apol7e UTSW 15 77717756 missense probably damaging 1.00
R8190:Apol7e UTSW 15 77717807 missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- TGTCTGCTGAAGCTAAAGCCAG -3'
(R):5'- TGCAGCAGACTCAGCCTTTG -3'

Sequencing Primer
(F):5'- AGCCAGCAAGTTGGTACC -3'
(R):5'- GCTCCTTCATGCAAATGCTTTGAG -3'
Posted On2015-04-02