Incidental Mutation 'IGL01863:Afg1l'
ID 178426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Afg1l
Ensembl Gene ENSMUSG00000038302
Gene Name AFG1 like ATPase
Synonyms Lace1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # IGL01863
Quality Score
Status
Chromosome 10
Chromosomal Location 42188581-42354561 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42215907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 326 (I326F)
Ref Sequence ENSEMBL: ENSMUSP00000036149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041024] [ENSMUST00000133326]
AlphaFold Q3V384
Predicted Effect possibly damaging
Transcript: ENSMUST00000041024
AA Change: I326F

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036149
Gene: ENSMUSG00000038302
AA Change: I326F

DomainStartEndE-ValueType
low complexity region 21 32 N/A INTRINSIC
low complexity region 34 43 N/A INTRINSIC
Pfam:AFG1_ATPase 74 432 4.4e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133326
SMART Domains Protein: ENSMUSP00000123510
Gene: ENSMUSG00000038302

DomainStartEndE-ValueType
low complexity region 21 32 N/A INTRINSIC
low complexity region 34 43 N/A INTRINSIC
Pfam:AFG1_ATPase 73 272 2e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149832
SMART Domains Protein: ENSMUSP00000119620
Gene: ENSMUSG00000038302

DomainStartEndE-ValueType
Pfam:AFG1_ATPase 2 80 5.3e-29 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000151747
AA Change: I193F
SMART Domains Protein: ENSMUSP00000120389
Gene: ENSMUSG00000038302
AA Change: I193F

DomainStartEndE-ValueType
Pfam:AFG1_ATPase 5 300 2e-97 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp1 T C 3: 132,377,853 (GRCm39) T171A probably benign Het
Ash1l T A 3: 88,892,813 (GRCm39) L1564* probably null Het
Atp1a1 G T 3: 101,499,205 (GRCm39) Y131* probably null Het
Celsr2 T C 3: 108,301,338 (GRCm39) E2686G probably benign Het
Cyp4f18 A G 8: 72,743,770 (GRCm39) V395A possibly damaging Het
Dnaaf11 A T 15: 66,268,823 (GRCm39) probably benign Het
Ephb2 T C 4: 136,387,088 (GRCm39) Q713R probably benign Het
Esf1 A T 2: 139,962,599 (GRCm39) M824K probably benign Het
Fat4 T C 3: 39,024,768 (GRCm39) probably benign Het
Gem A G 4: 11,705,980 (GRCm39) I23V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Il6st A G 13: 112,640,744 (GRCm39) E779G possibly damaging Het
Lama3 T A 18: 12,552,993 (GRCm39) probably benign Het
Lipi A C 16: 75,347,114 (GRCm39) I435R probably damaging Het
Odad2 T C 18: 7,222,617 (GRCm39) T551A probably damaging Het
Omg C T 11: 79,393,050 (GRCm39) M269I probably benign Het
Optn A T 2: 5,026,298 (GRCm39) probably benign Het
Or5ae2 T C 7: 84,505,619 (GRCm39) L14P probably damaging Het
Pex1 A G 5: 3,656,066 (GRCm39) T298A probably benign Het
Rab27b T A 18: 70,122,625 (GRCm39) R111S probably damaging Het
Rhbdf1 T G 11: 32,163,484 (GRCm39) E329D probably benign Het
Slc2a13 T C 15: 91,400,695 (GRCm39) I176V probably benign Het
Slc30a1 T A 1: 191,641,196 (GRCm39) C281S probably damaging Het
Slc4a7 T A 14: 14,762,430 (GRCm38) C509S probably damaging Het
Slfn9 T C 11: 82,872,151 (GRCm39) R862G probably benign Het
Tbc1d2 A G 4: 46,607,064 (GRCm39) I782T possibly damaging Het
Tent5c C T 3: 100,379,980 (GRCm39) D259N probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps33b T C 7: 79,924,059 (GRCm39) probably null Het
Wrap73 A G 4: 154,229,790 (GRCm39) I54V probably benign Het
Other mutations in Afg1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02041:Afg1l APN 10 42,330,376 (GRCm39) missense probably damaging 0.98
IGL02309:Afg1l APN 10 42,330,374 (GRCm39) missense possibly damaging 0.90
IGL02323:Afg1l APN 10 42,330,506 (GRCm39) nonsense probably null
IGL03088:Afg1l APN 10 42,302,493 (GRCm39) missense probably damaging 1.00
PIT4458001:Afg1l UTSW 10 42,330,366 (GRCm39) nonsense probably null
R0969:Afg1l UTSW 10 42,194,617 (GRCm39) missense probably damaging 1.00
R1665:Afg1l UTSW 10 42,302,573 (GRCm39) missense probably damaging 1.00
R1703:Afg1l UTSW 10 42,276,395 (GRCm39) missense probably damaging 1.00
R1766:Afg1l UTSW 10 42,330,491 (GRCm39) missense probably benign 0.00
R2941:Afg1l UTSW 10 42,354,291 (GRCm39) splice site probably null
R4846:Afg1l UTSW 10 42,330,490 (GRCm39) missense probably benign 0.02
R4887:Afg1l UTSW 10 42,330,374 (GRCm39) missense probably benign 0.00
R5668:Afg1l UTSW 10 42,236,236 (GRCm39) missense probably damaging 1.00
R5934:Afg1l UTSW 10 42,194,682 (GRCm39) missense probably damaging 1.00
R6575:Afg1l UTSW 10 42,194,712 (GRCm39) missense probably damaging 1.00
R6972:Afg1l UTSW 10 42,354,370 (GRCm39) missense probably benign 0.00
R7270:Afg1l UTSW 10 42,301,245 (GRCm39) missense probably damaging 1.00
R7271:Afg1l UTSW 10 42,291,544 (GRCm39) critical splice donor site probably null
R7577:Afg1l UTSW 10 42,194,607 (GRCm39) missense probably damaging 1.00
R8458:Afg1l UTSW 10 42,302,517 (GRCm39) missense probably damaging 0.98
R8824:Afg1l UTSW 10 42,314,383 (GRCm39) missense possibly damaging 0.49
R9032:Afg1l UTSW 10 42,194,637 (GRCm39) missense probably damaging 1.00
R9085:Afg1l UTSW 10 42,194,637 (GRCm39) missense probably damaging 1.00
R9443:Afg1l UTSW 10 42,189,587 (GRCm39) missense probably damaging 1.00
Z1176:Afg1l UTSW 10 42,354,349 (GRCm39) frame shift probably null
Posted On 2014-05-07