Incidental Mutation 'R6304:Apol9b'
ID 509214
Institutional Source Beutler Lab
Gene Symbol Apol9b
Ensembl Gene ENSMUSG00000068246
Gene Name apolipoprotein L 9b
Synonyms 2310016F22Rik
MMRRC Submission 044380-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6304 (G1)
Quality Score 110.008
Status Not validated
Chromosome 15
Chromosomal Location 77613248-77620582 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77619504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 100 (V100E)
Ref Sequence ENSEMBL: ENSMUSP00000154979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109775] [ENSMUST00000230377] [ENSMUST00000230742] [ENSMUST00000230979]
AlphaFold Q8C7I4
Predicted Effect possibly damaging
Transcript: ENSMUST00000109775
AA Change: V100E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105397
Gene: ENSMUSG00000068246
AA Change: V100E

DomainStartEndE-ValueType
Pfam:ApoL 1 310 5.2e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000230377
AA Change: V100E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000230742
AA Change: V100E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230979
AA Change: V100E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bin3 A G 14: 70,374,625 (GRCm39) D218G possibly damaging Het
Cbll1 A G 12: 31,544,588 (GRCm39) probably null Het
Cped1 A T 6: 22,016,922 (GRCm39) R90S probably benign Het
Csmd1 A T 8: 16,108,688 (GRCm39) L1905Q probably damaging Het
Dnai4 T C 4: 102,944,553 (GRCm39) E266G probably benign Het
Elapor1 A C 3: 108,368,572 (GRCm39) C806W probably damaging Het
Etaa1 A C 11: 17,897,505 (GRCm39) M204R probably damaging Het
G6pc1 A G 11: 101,258,735 (GRCm39) D38G probably damaging Het
Gramd4 A G 15: 86,019,120 (GRCm39) E596G possibly damaging Het
Ifna5 T C 4: 88,754,147 (GRCm39) V129A probably benign Het
Igsf9b C T 9: 27,253,871 (GRCm39) R1354W probably benign Het
Kcnh3 T C 15: 99,124,919 (GRCm39) V123A probably benign Het
Kcnh7 A T 2: 62,594,960 (GRCm39) Y703* probably null Het
Kdm2b A G 5: 123,019,807 (GRCm39) S260P probably benign Het
Kdm6b G T 11: 69,295,084 (GRCm39) T1061K unknown Het
Lingo4 G A 3: 94,310,513 (GRCm39) G484R probably damaging Het
Lpar1 T C 4: 58,487,013 (GRCm39) Y86C probably damaging Het
Lrrc10b T C 19: 10,434,342 (GRCm39) Q113R probably benign Het
Lrrc8c A T 5: 105,756,475 (GRCm39) N750I probably benign Het
Miip T C 4: 147,947,540 (GRCm39) M207V probably benign Het
Mtcl2 T C 2: 156,882,684 (GRCm39) N456S possibly damaging Het
Mup4 T C 4: 59,960,084 (GRCm39) H60R possibly damaging Het
Naip5 C T 13: 100,359,674 (GRCm39) A521T possibly damaging Het
Nrp2 T C 1: 62,784,565 (GRCm39) L238P probably damaging Het
Nup155 T C 15: 8,147,526 (GRCm39) S262P probably damaging Het
Or51k1 G A 7: 103,661,238 (GRCm39) L224F probably damaging Het
Osbpl3 A G 6: 50,289,654 (GRCm39) S604P probably damaging Het
Pcdhb6 C T 18: 37,468,974 (GRCm39) R632* probably null Het
Pcdhb9 T A 18: 37,534,420 (GRCm39) V138E probably damaging Het
Pclo A T 5: 14,727,907 (GRCm39) probably benign Het
Phyhipl A G 10: 70,395,387 (GRCm39) probably null Het
Plcg1 A G 2: 160,603,383 (GRCm39) T1185A possibly damaging Het
Pomt1 T A 2: 32,140,802 (GRCm39) L478Q probably damaging Het
Robo2 T A 16: 73,755,196 (GRCm39) Y779F probably damaging Het
Sesn3 A T 9: 14,233,857 (GRCm39) probably null Het
Sh3gl1 A T 17: 56,343,431 (GRCm39) F10Y probably benign Het
Spata31h1 T A 10: 82,126,202 (GRCm39) K2269N possibly damaging Het
Spsb1 C T 4: 149,991,188 (GRCm39) V127I probably benign Het
Taf4b T C 18: 14,940,412 (GRCm39) I297T probably damaging Het
Trim14 C A 4: 46,522,118 (GRCm39) M186I probably benign Het
Ttn G T 2: 76,746,079 (GRCm39) probably benign Het
Ttn A T 2: 76,721,443 (GRCm39) probably benign Het
Usp54 T C 14: 20,611,036 (GRCm39) D1260G possibly damaging Het
Vmn1r3 T A 4: 3,184,975 (GRCm39) T111S probably damaging Het
Vmn2r51 T C 7: 9,832,164 (GRCm39) Q474R probably benign Het
Other mutations in Apol9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0543:Apol9b UTSW 15 77,619,840 (GRCm39) missense probably damaging 0.98
R0591:Apol9b UTSW 15 77,619,830 (GRCm39) missense possibly damaging 0.60
R1754:Apol9b UTSW 15 77,619,962 (GRCm39) missense probably benign 0.02
R2164:Apol9b UTSW 15 77,619,639 (GRCm39) missense probably benign
R4817:Apol9b UTSW 15 77,620,088 (GRCm39) missense possibly damaging 0.71
R5372:Apol9b UTSW 15 77,619,920 (GRCm39) missense probably benign 0.35
R5444:Apol9b UTSW 15 77,619,963 (GRCm39) missense probably damaging 0.96
R6016:Apol9b UTSW 15 77,620,058 (GRCm39) missense probably damaging 1.00
R6303:Apol9b UTSW 15 77,619,504 (GRCm39) missense probably damaging 1.00
R6332:Apol9b UTSW 15 77,619,746 (GRCm39) splice site probably null
R7368:Apol9b UTSW 15 77,620,134 (GRCm39) missense possibly damaging 0.82
R9481:Apol9b UTSW 15 77,619,656 (GRCm39) missense probably benign 0.08
R9732:Apol9b UTSW 15 77,619,566 (GRCm39) missense possibly damaging 0.90
RF016:Apol9b UTSW 15 77,619,714 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- CAAAGCTCTGAGGGAACTGAC -3'
(R):5'- ACATGAGTGCCAGTCAGAGC -3'

Sequencing Primer
(F):5'- AACTGACAGCGCTCTTGG -3'
(R):5'- GTCAGAGCAGCTTCAACTTCATC -3'
Posted On 2018-04-02