Incidental Mutation 'R6093:Apol9a'
ID 486062
Institutional Source Beutler Lab
Gene Symbol Apol9a
Ensembl Gene ENSMUSG00000057346
Gene Name apolipoprotein L 9a
Synonyms
MMRRC Submission 044250-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6093 (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 A at 77288620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 249 (N249I)
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: N249I

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000080468
Gene: ENSMUSG00000057346
AA Change: N249I

DomainStartEndE-ValueType
Pfam:ApoL 1 310 2.7e-118 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089452
AA Change: N249I

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000086875
Gene: ENSMUSG00000057346
AA Change: N249I

DomainStartEndE-ValueType
Pfam:ApoL 1 310 1.5e-114 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229175
Predicted Effect probably benign
Transcript: ENSMUST00000231161
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,490,214 (GRCm39) probably benign Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Adgrl3 A C 5: 81,794,369 (GRCm39) R531S probably benign Het
Ahctf1 T C 1: 179,590,517 (GRCm39) D1252G probably benign Het
Ano1 T C 7: 144,165,114 (GRCm39) N648S possibly damaging Het
Antxr2 C A 5: 98,178,319 (GRCm39) L30F probably damaging Het
Atp2a1 A G 7: 126,046,093 (GRCm39) V977A probably damaging Het
Clmn T C 12: 104,738,215 (GRCm39) T968A probably benign Het
Clstn2 A T 9: 97,340,263 (GRCm39) I703N probably damaging Het
Cnot1 T C 8: 96,475,522 (GRCm39) T1051A probably benign Het
Csde1 A G 3: 102,960,218 (GRCm39) Y615C probably damaging Het
Dcaf17 A G 2: 70,912,356 (GRCm39) K314E possibly damaging Het
Dnah10 A T 5: 124,830,238 (GRCm39) I711F probably benign Het
Duox1 G T 2: 122,177,755 (GRCm39) R1513L probably benign Het
Exph5 A G 9: 53,283,917 (GRCm39) T333A possibly damaging Het
Fmnl2 A G 2: 53,004,880 (GRCm39) D658G probably damaging Het
Gcgr T A 11: 120,428,947 (GRCm39) L395Q probably damaging Het
Gm10801 C CGTA 2: 98,494,152 (GRCm39) probably null Het
Greb1 C T 12: 16,734,487 (GRCm39) C1501Y probably benign Het
Iqgap2 A G 13: 95,765,471 (GRCm39) V1533A probably damaging Het
Kcnc3 A C 7: 44,240,932 (GRCm39) D208A probably benign Het
Kctd14 A G 7: 97,104,160 (GRCm39) probably benign Het
Mcm5 C A 8: 75,836,374 (GRCm39) D13E probably benign Het
Med23 A G 10: 24,754,341 (GRCm39) I221V probably benign Het
Msantd5f6 T C 4: 73,320,258 (GRCm39) I174V probably benign Het
Myo19 T C 11: 84,776,535 (GRCm39) F64L probably damaging Het
Ncapd3 T G 9: 26,967,454 (GRCm39) S597A probably damaging Het
Neb A T 2: 52,141,782 (GRCm39) Y72* probably null Het
Nrip1 C T 16: 76,091,652 (GRCm39) probably benign Het
Or5h26 T A 16: 58,988,330 (GRCm39) M59L probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Phkb T A 8: 86,668,958 (GRCm39) D328E probably damaging Het
Phyh G T 2: 4,923,896 (GRCm39) A6S possibly damaging Het
Pole A T 5: 110,459,956 (GRCm39) Q1120L probably benign Het
Rbmxl1 T C 8: 79,232,572 (GRCm39) Y257C probably damaging Het
Smurf2 A T 11: 106,759,449 (GRCm39) H69Q possibly damaging Het
Tmem167b A T 3: 108,469,439 (GRCm39) M1K probably null Het
Tmod4 A T 3: 95,032,929 (GRCm39) T22S probably benign Het
Triml1 T C 8: 43,593,755 (GRCm39) I149M probably benign Het
Vmn2r108 T C 17: 20,701,402 (GRCm39) T33A probably benign Het
Vmn2r76 T A 7: 85,877,469 (GRCm39) R525* probably null Het
Zfp109 A T 7: 23,928,558 (GRCm39) W292R probably benign Het
Zfp292 C T 4: 34,811,902 (GRCm39) A381T probably damaging Het
Zfp791 C T 8: 85,840,135 (GRCm39) probably null 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
R6778:Apol9a UTSW 15 77,288,533 (GRCm39) missense probably benign 0.03
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'- CGTCTTGTAGAATTCCATGAGCC -3'
(R):5'- AAGTGTGGATAGGATTGCCAGC -3'

Sequencing Primer
(F):5'- GTAGAATTCCATGAGCCCCTCTAG -3'
(R):5'- ATAGGATTGCCAGCAAGGTCCC -3'
Posted On 2017-08-16