Incidental Mutation 'IGL02309:Afg1l'
ID287718
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Afg1l
Ensembl Gene ENSMUSG00000038302
Gene NameAFG1 like ATPase
SynonymsLace1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #IGL02309
Quality Score
Status
Chromosome10
Chromosomal Location42312585-42478565 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 42454378 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 98 (V98F)
Ref Sequence ENSEMBL: ENSMUSP00000036149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041024] [ENSMUST00000133326]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041024
AA Change: V98F

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036149
Gene: ENSMUSG00000038302
AA Change: V98F

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 possibly damaging
Transcript: ENSMUST00000133326
AA Change: V98F

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123510
Gene: ENSMUSG00000038302
AA Change: V98F

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: ENSMUST00000151747
SMART Domains Protein: ENSMUSP00000120389
Gene: ENSMUSG00000038302

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,281,828 F111S probably benign Het
Agk T A 6: 40,376,276 D191E possibly damaging Het
Akap5 A G 12: 76,328,855 K354E possibly damaging Het
Aplp2 A T 9: 31,167,683 M323K possibly damaging Het
Arhgap23 T C 11: 97,466,001 probably benign Het
Asl A G 5: 130,019,781 Y30H probably damaging Het
Asxl3 T A 18: 22,522,453 H1173Q probably benign Het
Celsr2 C T 3: 108,396,011 R2472H probably damaging Het
Clip1 T A 5: 123,617,700 H950L probably damaging Het
Cx3cl1 A T 8: 94,780,032 T222S probably benign Het
Cyp4a14 T A 4: 115,491,632 N273Y probably damaging Het
Ddx52 T A 11: 83,948,478 S214T probably damaging Het
Dennd2d T A 3: 106,494,968 M318K probably benign Het
Dock3 A T 9: 106,913,152 D1E probably damaging Het
Farp1 C T 14: 121,243,516 T443I probably benign Het
Gm2381 C T 7: 42,822,609 probably benign Het
Gpr87 T A 3: 59,179,554 I178F possibly damaging Het
Grin2b C T 6: 135,736,472 E804K probably damaging Het
Gtf2h1 T C 7: 46,816,388 L421P probably damaging Het
Haghl T G 17: 25,784,664 H56P probably damaging Het
Heatr3 T C 8: 88,167,072 L489P probably damaging Het
Ighv6-6 A T 12: 114,434,914 H77Q probably benign Het
Kdm2b A G 5: 122,947,820 S243P probably damaging Het
Lamc3 T C 2: 31,914,604 probably benign Het
Lgr4 T C 2: 110,012,535 probably benign Het
Lhx3 T C 2: 26,201,373 Q308R probably benign Het
Lonp2 G A 8: 86,634,863 E223K probably damaging Het
Lta4h T C 10: 93,474,490 F407L probably damaging Het
Mndal C T 1: 173,874,455 G94R probably damaging Het
Nrxn3 A G 12: 89,976,407 N101S probably damaging Het
Olfr295 T C 7: 86,585,497 V74A possibly damaging Het
Olfr609 A T 7: 103,491,999 I293K probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Olfr912 A G 9: 38,581,433 N52S probably damaging Het
Olfr930 A G 9: 38,931,052 N294D probably damaging Het
Pknox1 T G 17: 31,590,709 F96V probably benign Het
Psg25 T G 7: 18,526,424 Q183P probably damaging Het
Ptgs2 A G 1: 150,105,556 Y530C probably damaging Het
Sema3e T A 5: 14,224,390 D218E probably damaging Het
Shank1 G A 7: 44,312,842 G46R unknown Het
Sidt1 T C 16: 44,254,980 I672V probably benign Het
Slco1b2 T A 6: 141,672,281 S486T probably damaging Het
Smchd1 T C 17: 71,443,903 H340R probably benign Het
Smoc2 C A 17: 14,375,527 probably benign Het
Snapc1 A G 12: 73,968,027 Y102C probably damaging Het
Spo11 A G 2: 172,979,951 R20G probably damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Tmem229b-ps T C 10: 53,475,370 noncoding transcript Het
Trim12c T A 7: 104,344,956 E230D possibly damaging Het
Ttc17 G T 2: 94,342,661 N796K probably benign Het
Ttc37 A G 13: 76,127,047 T238A possibly damaging Het
Ttn A G 2: 76,879,099 probably benign Het
Ublcp1 A T 11: 44,458,328 probably benign Het
Usf3 C T 16: 44,200,663 T11M probably benign Het
Vmn2r115 T A 17: 23,345,139 M95K probably benign Het
Wapl A G 14: 34,744,863 T1160A probably damaging Het
Other mutations in Afg1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01863:Afg1l APN 10 42339911 missense possibly damaging 0.86
IGL02041:Afg1l APN 10 42454380 missense probably damaging 0.98
IGL02323:Afg1l APN 10 42454510 nonsense probably null
IGL03088:Afg1l APN 10 42426497 missense probably damaging 1.00
PIT4458001:Afg1l UTSW 10 42454370 nonsense probably null
R0969:Afg1l UTSW 10 42318621 missense probably damaging 1.00
R1665:Afg1l UTSW 10 42426577 missense probably damaging 1.00
R1703:Afg1l UTSW 10 42400399 missense probably damaging 1.00
R1766:Afg1l UTSW 10 42454495 missense probably benign 0.00
R2941:Afg1l UTSW 10 42478295 unclassified probably null
R4846:Afg1l UTSW 10 42454494 missense probably benign 0.02
R4887:Afg1l UTSW 10 42454378 missense probably benign 0.00
R5668:Afg1l UTSW 10 42360240 missense probably damaging 1.00
R5934:Afg1l UTSW 10 42318686 missense probably damaging 1.00
R6575:Afg1l UTSW 10 42318716 missense probably damaging 1.00
R6972:Afg1l UTSW 10 42478374 missense probably benign 0.00
R7270:Afg1l UTSW 10 42425249 missense probably damaging 1.00
R7271:Afg1l UTSW 10 42415548 critical splice donor site probably null
Posted On2015-04-16