Incidental Mutation 'R6778:Apol9a'
ID 531390
Institutional Source Beutler Lab
Gene Symbol Apol9a
Ensembl Gene ENSMUSG00000057346
Gene Name apolipoprotein L 9a
Synonyms
MMRRC Submission 044894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6778 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 77287989-77295280 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77288533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 278 (Y278C)
Ref Sequence ENSEMBL: ENSMUSP00000086875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081776] [ENSMUST00000089452] [ENSMUST00000231161]
AlphaFold Q8VDU3
Predicted Effect probably benign
Transcript: ENSMUST00000081776
AA Change: Y278C

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000080468
Gene: ENSMUSG00000057346
AA Change: Y278C

DomainStartEndE-ValueType
Pfam:ApoL 1 310 2.7e-118 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089452
AA Change: Y278C

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000086875
Gene: ENSMUSG00000057346
AA Change: Y278C

DomainStartEndE-ValueType
Pfam:ApoL 1 310 1.5e-114 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231161
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 T A 10: 61,061,231 (GRCm39) N403Y probably damaging Het
Akap6 A G 12: 53,072,599 (GRCm39) E989G probably damaging Het
Aoc2 A G 11: 101,216,187 (GRCm39) N90S probably damaging Het
Casq2 T A 3: 102,035,247 (GRCm39) probably null Het
Ccdc7a T A 8: 129,547,601 (GRCm39) T1284S possibly damaging Het
Dlat A G 9: 50,562,157 (GRCm39) L289P probably damaging Het
Dnah8 C T 17: 30,854,640 (GRCm39) P101S probably benign Het
Dzip3 C A 16: 48,802,446 (GRCm39) A28S probably benign Het
Ffar4 A G 19: 38,102,112 (GRCm39) E249G possibly damaging Het
Fubp3 A T 2: 31,488,685 (GRCm39) K180N possibly damaging Het
Gm7489 T A 15: 53,749,348 (GRCm39) probably benign Het
Ifitm6 A T 7: 140,596,056 (GRCm39) M59K possibly damaging Het
Igkv4-80 A T 6: 68,993,545 (GRCm39) Y115* probably null Het
Igsf21 G T 4: 139,761,959 (GRCm39) R240S probably benign Het
Kank4 A T 4: 98,649,742 (GRCm39) N942K probably benign Het
Man2a1 C A 17: 65,021,630 (GRCm39) T35K possibly damaging Het
Mvk T A 5: 114,590,441 (GRCm39) D193E probably benign Het
Npas2 T A 1: 39,364,381 (GRCm39) M241K possibly damaging Het
Npsr1 T A 9: 24,165,914 (GRCm39) I100N possibly damaging Het
Olfml2b A G 1: 170,472,639 (GRCm39) D50G probably damaging Het
Or10d4c T A 9: 39,558,043 (GRCm39) V7E probably damaging Het
Pcnx1 A G 12: 81,965,645 (GRCm39) D604G probably damaging Het
Pitx2 C T 3: 129,012,392 (GRCm39) P254L probably damaging Het
Rdh10 T C 1: 16,176,408 (GRCm39) F56S probably damaging Het
Rin1 T C 19: 5,104,914 (GRCm39) L647P probably damaging Het
Sgk3 T A 1: 9,956,369 (GRCm39) probably null Het
Sgpp1 A G 12: 75,763,068 (GRCm39) I371T probably benign Het
Slc12a9 T C 5: 137,313,343 (GRCm39) Y872C possibly damaging Het
Spata31f3 T C 4: 42,868,522 (GRCm39) K367R possibly damaging Het
Syne1 A G 10: 5,052,406 (GRCm39) F7487L probably damaging Het
Tars1 T C 15: 11,389,785 (GRCm39) N375S probably benign Het
Tbc1d31 A G 15: 57,801,425 (GRCm39) Y320C probably damaging Het
Tbl1xr1 T A 3: 22,243,946 (GRCm39) F73L probably benign Het
Tmem145 G A 7: 25,010,801 (GRCm39) V378I probably benign Het
Tmprss11d T C 5: 86,457,209 (GRCm39) H150R probably benign Het
Tnc T G 4: 63,913,835 (GRCm39) I1326L probably benign Het
Trpc7 T C 13: 56,952,500 (GRCm39) Y502C probably damaging Het
Usp32 T C 11: 84,916,512 (GRCm39) I811V probably benign Het
Vmn1r71 C T 7: 10,482,143 (GRCm39) A182T probably benign Het
Wdr47 T A 3: 108,540,412 (GRCm39) N602K probably benign Het
Other mutations in Apol9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2763:Apol9a UTSW 15 77,288,617 (GRCm39) missense probably benign 0.00
R3768:Apol9a UTSW 15 77,288,596 (GRCm39) missense probably benign 0.16
R3769:Apol9a UTSW 15 77,288,596 (GRCm39) missense probably benign 0.16
R3770:Apol9a UTSW 15 77,288,596 (GRCm39) missense probably benign 0.16
R4208:Apol9a UTSW 15 77,288,596 (GRCm39) missense probably benign 0.16
R5896:Apol9a UTSW 15 77,288,705 (GRCm39) missense probably benign 0.34
R6093:Apol9a UTSW 15 77,288,620 (GRCm39) missense probably benign 0.27
R7559:Apol9a UTSW 15 77,288,761 (GRCm39) missense possibly damaging 0.92
R8311:Apol9a UTSW 15 77,289,220 (GRCm39) missense possibly damaging 0.60
R8397:Apol9a UTSW 15 77,288,813 (GRCm39) missense probably benign
R8714:Apol9a UTSW 15 77,288,942 (GRCm39) missense probably benign 0.06
R9572:Apol9a UTSW 15 77,288,804 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CACCTGATTGTGCTGTGTTCAG -3'
(R):5'- TTAGAAGAAGATGCCAGGATCC -3'

Sequencing Primer
(F):5'- TCGGACCTGACTGCAGTCTTG -3'
(R):5'- GATCCTGGCCACCACAGGAAG -3'
Posted On 2018-08-29