Incidental Mutation 'R1766:Afg1l'
ID 194385
Institutional Source Beutler Lab
Gene Symbol Afg1l
Ensembl Gene ENSMUSG00000038302
Gene Name AFG1 like ATPase
Synonyms Lace1
MMRRC Submission 039798-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R1766 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 42312585-42478565 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42454495 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 59 (T59A)
Ref Sequence ENSEMBL: ENSMUSP00000123510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041024] [ENSMUST00000133326]
AlphaFold Q3V384
Predicted Effect probably benign
Transcript: ENSMUST00000041024
AA Change: T59A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036149
Gene: ENSMUSG00000038302
AA Change: T59A

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
AA Change: T59A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123510
Gene: ENSMUSG00000038302
AA Change: T59A

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

Pfam:AFG1_ATPase 5 300 2e-97 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933403O08Rik T C X: 112,241,085 (GRCm38) Y22H probably benign Het
Ankrd17 T A 5: 90,264,797 (GRCm38) M1223L possibly damaging Het
Ankrd24 G A 10: 81,638,638 (GRCm38) S68N probably benign Het
Arhgap31 A G 16: 38,625,590 (GRCm38) I131T probably damaging Het
Arhgef10 A T 8: 14,979,836 (GRCm38) I874F probably damaging Het
Arl5b T C 2: 15,069,837 (GRCm38) V43A probably benign Het
BC051665 G A 13: 60,785,040 (GRCm38) H36Y probably benign Het
Cdh9 A G 15: 16,778,306 (GRCm38) D69G probably damaging Het
Chd6 G A 2: 160,966,639 (GRCm38) L1552F probably damaging Het
Chrd A G 16: 20,737,441 (GRCm38) H584R probably damaging Het
Dnhd1 G A 7: 105,693,972 (GRCm38) V1508I possibly damaging Het
Dpy19l4 C T 4: 11,303,360 (GRCm38) G187D probably damaging Het
Dync2h1 T C 9: 7,015,526 (GRCm38) probably null Het
Ehbp1l1 A G 19: 5,716,406 (GRCm38) V1303A probably damaging Het
Eif4e1b G A 13: 54,786,891 (GRCm38) E182K probably damaging Het
Fam170b A T 14: 32,835,886 (GRCm38) Q226L possibly damaging Het
Fam193a C T 5: 34,462,131 (GRCm38) P760L probably damaging Het
Gabra5 A T 7: 57,508,048 (GRCm38) L6H probably benign Het
Gabrq G A X: 72,833,383 (GRCm38) R161H probably damaging Het
Gm7334 T A 17: 50,698,978 (GRCm38) D97E probably damaging Het
Gpsm1 G A 2: 26,325,383 (GRCm38) A286T probably damaging Het
Gsta4 C A 9: 78,204,329 (GRCm38) Y79* probably null Het
Hcn1 T A 13: 117,656,734 (GRCm38) V174D probably benign Het
Hic1 G T 11: 75,165,794 (GRCm38) C756* probably null Het
Hivep3 C T 4: 120,096,671 (GRCm38) T728I probably benign Het
Ice1 T C 13: 70,604,442 (GRCm38) E1175G possibly damaging Het
Igsf3 T A 3: 101,431,282 (GRCm38) L304Q probably damaging Het
Kpna6 T C 4: 129,657,442 (GRCm38) D90G probably benign Het
Krt73 C T 15: 101,793,928 (GRCm38) G500D probably damaging Het
Lama3 A G 18: 12,402,062 (GRCm38) K156E probably damaging Het
Mdm2 T C 10: 117,696,022 (GRCm38) K94E probably damaging Het
Mitf T C 6: 97,941,099 (GRCm38) S26P probably damaging Het
Myh4 C A 11: 67,256,295 (GRCm38) Q1589K possibly damaging Het
Nlrp4c T A 7: 6,073,114 (GRCm38) V671E probably benign Het
Nop9 C T 14: 55,752,134 (GRCm38) A407V possibly damaging Het
Nrap T A 19: 56,335,042 (GRCm38) H1366L probably damaging Het
Ntrk1 A T 3: 87,778,518 (GRCm38) C766S probably damaging Het
Olfr625-ps1 A G 7: 103,682,861 (GRCm38) N38D possibly damaging Het
Oog3 C T 4: 144,159,122 (GRCm38) G302D possibly damaging Het
Or4q3 T C 14: 50,346,220 (GRCm38) Y43C probably damaging Het
Or6c38 T C 10: 129,093,747 (GRCm38) I76V probably benign Het
Or7g27 A G 9: 19,338,858 (GRCm38) T133A probably benign Het
Pdzph1 C T 17: 58,973,752 (GRCm38) V512I probably benign Het
Phf2 A C 13: 48,819,557 (GRCm38) S408A unknown Het
Pigk T G 3: 152,740,156 (GRCm38) L135V probably damaging Het
Ppp2ca C A 11: 52,121,946 (GRCm38) T301N probably benign Het
Ppp4r3a A G 12: 101,058,482 (GRCm38) S253P probably damaging Het
Ptgfrn A T 3: 101,050,122 (GRCm38) I712N probably benign Het
Rapgef2 A T 3: 79,092,703 (GRCm38) D579E probably damaging Het
Rims2 T A 15: 39,462,580 (GRCm38) D769E probably damaging Het
Rptor T A 11: 119,725,061 (GRCm38) C134S probably damaging Het
S100a1 A G 3: 90,511,292 (GRCm38) F72L probably damaging Het
Scube1 T A 15: 83,721,945 (GRCm38) D42V probably damaging Het
Sh3glb1 T C 3: 144,712,685 (GRCm38) D39G probably damaging Het
Sh3pxd2a T C 19: 47,273,250 (GRCm38) T397A probably benign Het
Siglece G A 7: 43,651,532 (GRCm38) T453M probably damaging Het
Slc26a1 G A 5: 108,671,792 (GRCm38) R514W probably damaging Het
Slc4a8 T C 15: 100,787,212 (GRCm38) V156A probably benign Het
Smchd1 A T 17: 71,391,379 (GRCm38) V1134E probably damaging Het
Sorbs2 A G 8: 45,770,576 (GRCm38) Y222C probably damaging Het
Sorcs3 G T 19: 48,603,875 (GRCm38) W326C possibly damaging Het
Taf2 A G 15: 55,071,397 (GRCm38) V45A probably benign Het
Tiparp A T 3: 65,532,049 (GRCm38) H80L probably damaging Het
Tmem71 T A 15: 66,541,699 (GRCm38) T175S probably benign Het
Tmem87b T A 2: 128,839,170 (GRCm38) V338D probably damaging Het
Trdn A G 10: 33,364,008 (GRCm38) K445R probably damaging Het
Trim14 A G 4: 46,522,039 (GRCm38) F213L probably benign Het
Tubgcp5 T A 7: 55,815,020 (GRCm38) S550T probably benign Het
Tufm A G 7: 126,490,472 (GRCm38) D446G probably benign Het
Vipr1 A T 9: 121,661,419 (GRCm38) Y177F possibly damaging Het
Vmn2r116 A C 17: 23,401,766 (GRCm38) I825L probably damaging Het
Vmn2r12 G T 5: 109,092,044 (GRCm38) Q218K probably damaging Het
Vwa7 G T 17: 35,023,943 (GRCm38) probably null Het
Ywhae T C 11: 75,755,665 (GRCm38) V119A probably damaging Het
Zfand5 A G 19: 21,280,524 (GRCm38) R199G probably damaging Het
Zfp810 T C 9: 22,278,532 (GRCm38) Y360C possibly damaging Het
Zrsr2-ps1 A G 11: 22,973,637 (GRCm38) D137G probably benign Het
Other mutations in Afg1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01863:Afg1l APN 10 42,339,911 (GRCm38) missense possibly damaging 0.86
IGL02041:Afg1l APN 10 42,454,380 (GRCm38) missense probably damaging 0.98
IGL02309:Afg1l APN 10 42,454,378 (GRCm38) missense possibly damaging 0.90
IGL02323:Afg1l APN 10 42,454,510 (GRCm38) nonsense probably null
IGL03088:Afg1l APN 10 42,426,497 (GRCm38) missense probably damaging 1.00
PIT4458001:Afg1l UTSW 10 42,454,370 (GRCm38) nonsense probably null
R0969:Afg1l UTSW 10 42,318,621 (GRCm38) missense probably damaging 1.00
R1665:Afg1l UTSW 10 42,426,577 (GRCm38) missense probably damaging 1.00
R1703:Afg1l UTSW 10 42,400,399 (GRCm38) missense probably damaging 1.00
R2941:Afg1l UTSW 10 42,478,295 (GRCm38) splice site probably null
R4846:Afg1l UTSW 10 42,454,494 (GRCm38) missense probably benign 0.02
R4887:Afg1l UTSW 10 42,454,378 (GRCm38) missense probably benign 0.00
R5668:Afg1l UTSW 10 42,360,240 (GRCm38) missense probably damaging 1.00
R5934:Afg1l UTSW 10 42,318,686 (GRCm38) missense probably damaging 1.00
R6575:Afg1l UTSW 10 42,318,716 (GRCm38) missense probably damaging 1.00
R6972:Afg1l UTSW 10 42,478,374 (GRCm38) missense probably benign 0.00
R7270:Afg1l UTSW 10 42,425,249 (GRCm38) missense probably damaging 1.00
R7271:Afg1l UTSW 10 42,415,548 (GRCm38) critical splice donor site probably null
R7577:Afg1l UTSW 10 42,318,611 (GRCm38) missense probably damaging 1.00
R8458:Afg1l UTSW 10 42,426,521 (GRCm38) missense probably damaging 0.98
R8824:Afg1l UTSW 10 42,438,387 (GRCm38) missense possibly damaging 0.49
R9032:Afg1l UTSW 10 42,318,641 (GRCm38) missense probably damaging 1.00
R9085:Afg1l UTSW 10 42,318,641 (GRCm38) missense probably damaging 1.00
R9443:Afg1l UTSW 10 42,313,591 (GRCm38) missense probably damaging 1.00
Z1176:Afg1l UTSW 10 42,478,353 (GRCm38) frame shift probably null
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- ttgagagataaaggcaggagc -3'
Posted On 2014-05-23