Incidental Mutation 'R0370:Afg3l1'
ID 30433
Institutional Source Beutler Lab
Gene Symbol Afg3l1
Ensembl Gene ENSMUSG00000031967
Gene Name AFG3-like AAA ATPase 1
Synonyms 1700047G05Rik, 3110061K15Rik
MMRRC Submission 038576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R0370 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 124204642-124230655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124228293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 666 (S666P)
Ref Sequence ENSEMBL: ENSMUSP00000001520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001520] [ENSMUST00000098320] [ENSMUST00000127664] [ENSMUST00000176155] [ENSMUST00000177240] [ENSMUST00000176286]
AlphaFold Q920A7
Predicted Effect probably damaging
Transcript: ENSMUST00000001520
AA Change: S666P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: S666P

DomainStartEndE-ValueType
low complexity region 79 88 N/A INTRINSIC
low complexity region 106 120 N/A INTRINSIC
Pfam:FtsH_ext 141 235 1.2e-8 PFAM
low complexity region 265 279 N/A INTRINSIC
AAA 332 471 3.67e-24 SMART
Pfam:Peptidase_M41 533 736 6.1e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098320
SMART Domains Protein: ENSMUSP00000095924
Gene: ENSMUSG00000031967

DomainStartEndE-ValueType
low complexity region 79 88 N/A INTRINSIC
low complexity region 106 120 N/A INTRINSIC
Pfam:FtsH_ext 141 235 6.5e-9 PFAM
low complexity region 265 279 N/A INTRINSIC
AAA 332 471 3.67e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152469
Predicted Effect probably benign
Transcript: ENSMUST00000176155
SMART Domains Protein: ENSMUSP00000135524
Gene: ENSMUSG00000031970

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
Pfam:Dysbindin 44 189 3.6e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177240
SMART Domains Protein: ENSMUSP00000135216
Gene: ENSMUSG00000031970

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
Pfam:Dysbindin 44 101 4.5e-10 PFAM
Pfam:Dysbindin 96 142 2.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176286
SMART Domains Protein: ENSMUSP00000134757
Gene: ENSMUSG00000031970

DomainStartEndE-ValueType
low complexity region 16 31 N/A INTRINSIC
Pfam:Dysbindin 44 96 3.1e-10 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no detectable myelination defects or axonal degeneration in the brain and spinal cord and normal mitochondria in the spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B3gntl1 A T 11: 121,514,980 (GRCm39) W263R probably damaging Het
Carmil3 A G 14: 55,732,899 (GRCm39) N270S possibly damaging Het
Ctdp1 T C 18: 80,492,569 (GRCm39) E642G probably damaging Het
Cyp2b9 A T 7: 25,909,531 (GRCm39) K433M probably damaging Het
Dcc A G 18: 71,721,056 (GRCm39) V435A possibly damaging Het
Defa26 A T 8: 22,108,875 (GRCm39) M87L probably benign Het
Dnah11 T A 12: 117,958,962 (GRCm39) I2974L probably benign Het
Dnah3 T C 7: 119,685,943 (GRCm39) D131G possibly damaging Het
Dock6 A T 9: 21,725,861 (GRCm39) S1447R probably benign Het
Dtl G T 1: 191,307,462 (GRCm39) N17K probably benign Het
Grid2 A G 6: 64,322,718 (GRCm39) I573V possibly damaging Het
Hoxa9 T C 6: 52,202,684 (GRCm39) E134G possibly damaging Het
Kcnn3 A T 3: 89,574,399 (GRCm39) N637I probably damaging Het
Ktn1 T C 14: 47,901,532 (GRCm39) F97L probably benign Het
Lmbrd2 T C 15: 9,165,939 (GRCm39) I271T probably damaging Het
Lrp6 A C 6: 134,456,729 (GRCm39) I845S probably damaging Het
Med13l T A 5: 118,879,891 (GRCm39) N994K probably benign Het
Mrrf A T 2: 36,067,125 (GRCm39) probably null Het
Mtmr1 G A X: 70,431,837 (GRCm39) V125I probably damaging Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Or13g1 T A 7: 85,956,057 (GRCm39) N88I probably benign Het
Or51k1 T G 7: 103,661,266 (GRCm39) L214F probably damaging Het
Or8k3 A T 2: 86,059,057 (GRCm39) V86D probably damaging Het
Paxip1 C A 5: 27,965,084 (GRCm39) V659F probably damaging Het
Pclo T C 5: 14,571,104 (GRCm39) V163A probably damaging Het
Pkn3 T A 2: 29,977,184 (GRCm39) H641Q probably damaging Het
Plekhg6 G A 6: 125,347,623 (GRCm39) R444C probably damaging Het
Rfx2 T C 17: 57,106,308 (GRCm39) E175G probably benign Het
Samd9l A C 6: 3,377,264 (GRCm39) probably benign Het
Sec14l5 A T 16: 4,998,570 (GRCm39) T537S probably damaging Het
Serpinb9d A G 13: 33,379,949 (GRCm39) E96G probably damaging Het
Setd4 T C 16: 93,388,006 (GRCm39) E160G probably damaging Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Slc16a4 A G 3: 107,208,413 (GRCm39) I308V possibly damaging Het
Slco2b1 T A 7: 99,339,644 (GRCm39) N100Y probably damaging Het
Sptbn1 A T 11: 30,071,545 (GRCm39) S1475R probably benign Het
Tecta T C 9: 42,278,100 (GRCm39) D1136G probably benign Het
Tmem94 G C 11: 115,679,543 (GRCm39) R273S probably damaging Het
Tns3 A G 11: 8,395,730 (GRCm39) S1225P possibly damaging Het
Ugt2b36 A G 5: 87,239,834 (GRCm39) Y184H probably benign Het
Vmn2r59 A T 7: 41,662,150 (GRCm39) M555K probably benign Het
Other mutations in Afg3l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Afg3l1 APN 8 124,214,128 (GRCm39) missense probably benign 0.01
IGL01547:Afg3l1 APN 8 124,228,090 (GRCm39) missense probably benign 0.17
IGL01612:Afg3l1 APN 8 124,221,592 (GRCm39) missense probably benign 0.01
IGL01616:Afg3l1 APN 8 124,228,746 (GRCm39) missense probably damaging 1.00
IGL01969:Afg3l1 APN 8 124,207,170 (GRCm39) missense probably damaging 1.00
IGL01996:Afg3l1 APN 8 124,228,633 (GRCm39) missense probably damaging 0.99
IGL02591:Afg3l1 APN 8 124,212,748 (GRCm39) missense probably damaging 1.00
R1775:Afg3l1 UTSW 8 124,219,639 (GRCm39) missense possibly damaging 0.89
R1817:Afg3l1 UTSW 8 124,228,670 (GRCm39) missense probably damaging 0.99
R2152:Afg3l1 UTSW 8 124,221,575 (GRCm39) missense probably damaging 1.00
R2516:Afg3l1 UTSW 8 124,228,693 (GRCm39) missense probably damaging 0.99
R2844:Afg3l1 UTSW 8 124,221,678 (GRCm39) intron probably benign
R3013:Afg3l1 UTSW 8 124,211,416 (GRCm39) missense probably benign 0.27
R3732:Afg3l1 UTSW 8 124,227,972 (GRCm39) missense probably damaging 1.00
R4565:Afg3l1 UTSW 8 124,228,608 (GRCm39) nonsense probably null
R4603:Afg3l1 UTSW 8 124,228,674 (GRCm39) missense probably benign 0.43
R4888:Afg3l1 UTSW 8 124,215,065 (GRCm39) critical splice donor site probably null
R4932:Afg3l1 UTSW 8 124,228,119 (GRCm39) missense probably damaging 1.00
R4970:Afg3l1 UTSW 8 124,225,392 (GRCm39) missense probably benign 0.04
R5027:Afg3l1 UTSW 8 124,216,553 (GRCm39) missense probably benign 0.00
R5133:Afg3l1 UTSW 8 124,216,532 (GRCm39) missense probably benign 0.16
R5457:Afg3l1 UTSW 8 124,216,707 (GRCm39) missense possibly damaging 0.88
R5911:Afg3l1 UTSW 8 124,226,778 (GRCm39) missense possibly damaging 0.79
R6268:Afg3l1 UTSW 8 124,219,665 (GRCm39) missense probably damaging 1.00
R7116:Afg3l1 UTSW 8 124,216,601 (GRCm39) missense probably damaging 0.98
R7303:Afg3l1 UTSW 8 124,228,008 (GRCm39) missense probably damaging 1.00
R7646:Afg3l1 UTSW 8 124,219,766 (GRCm39) missense possibly damaging 0.85
R7945:Afg3l1 UTSW 8 124,216,661 (GRCm39) missense probably benign 0.01
R8466:Afg3l1 UTSW 8 124,216,648 (GRCm39) missense probably benign 0.31
R8694:Afg3l1 UTSW 8 124,227,973 (GRCm39) missense probably damaging 1.00
R8806:Afg3l1 UTSW 8 124,220,657 (GRCm39) missense probably damaging 1.00
Z1088:Afg3l1 UTSW 8 124,214,981 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- TACACACGAGAGCAGCTCTTCGAC -3'
(R):5'- AGAACCTAAGCTAAGTAGGCCCACG -3'

Sequencing Primer
(F):5'- GTCAGATCACCACCGGAG -3'
(R):5'- GGAGATCAGCATGGTCCACAC -3'
Posted On 2013-04-24