Incidental Mutation 'R8694:Afg3l1'
ID 668570
Institutional Source Beutler Lab
Gene Symbol Afg3l1
Ensembl Gene ENSMUSG00000031967
Gene Name AFG3-like AAA ATPase 1
Synonyms 1700047G05Rik, 3110061K15Rik
MMRRC Submission 068548-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R8694 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 124204642-124230655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124227973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 586 (V586A)
Ref Sequence ENSEMBL: ENSMUSP00000001520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001520] [ENSMUST00000098320] [ENSMUST00000127664] [ENSMUST00000176155] [ENSMUST00000176286] [ENSMUST00000177240]
AlphaFold Q920A7
Predicted Effect probably damaging
Transcript: ENSMUST00000001520
AA Change: V586A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: V586A

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 silent
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 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: 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
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
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (51/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,642,950 (GRCm39) L277P probably damaging Het
Adgrb3 C A 1: 25,865,472 (GRCm39) D124Y probably damaging Het
Afdn T C 17: 14,108,641 (GRCm39) V1403A probably benign Het
Ajm1 A G 2: 25,469,831 (GRCm39) S27P possibly damaging Het
Aloxe3 A G 11: 69,033,677 (GRCm39) D597G probably damaging Het
Asb15 T C 6: 24,570,666 (GRCm39) V548A probably benign Het
Atp6v1a C T 16: 43,921,991 (GRCm39) R388Q probably damaging Het
Btbd8 A G 5: 107,658,635 (GRCm39) D1735G probably benign Het
C130074G19Rik G A 1: 184,615,184 (GRCm39) T2M probably damaging Het
Ccdc187 T C 2: 26,165,505 (GRCm39) T884A probably benign Het
Cdk5rap1 G A 2: 154,195,148 (GRCm39) R356* probably null Het
Cebpz A T 17: 79,234,334 (GRCm39) H725Q probably damaging Het
Celsr2 T C 3: 108,314,176 (GRCm39) D1283G probably damaging Het
Cldn11 G T 3: 31,217,239 (GRCm39) V136F probably damaging Het
Cpxm2 T C 7: 131,681,783 (GRCm39) N249D probably benign Het
Ctsz T C 2: 174,280,072 (GRCm39) N67D probably benign Het
Drd3 A C 16: 43,643,075 (GRCm39) H405P probably damaging Het
F2rl2 T C 13: 95,837,339 (GRCm39) V128A probably benign Het
Fh1 C T 1: 175,448,126 (GRCm39) P43S probably benign Het
Fndc7 C T 3: 108,779,622 (GRCm39) W307* probably null Het
Gmip G T 8: 70,270,485 (GRCm39) V732L probably benign Het
Heatr4 A G 12: 84,027,038 (GRCm39) F73S probably damaging Het
Iqcf4 T C 9: 106,448,111 (GRCm39) probably benign Het
Itln1 T A 1: 171,359,279 (GRCm39) Q67L probably damaging Het
Jak1 A G 4: 101,013,704 (GRCm39) V1008A probably damaging Het
Kcnh1 A T 1: 191,921,031 (GRCm39) probably benign Het
Kcnu1 T G 8: 26,342,101 (GRCm39) probably benign Het
Kif1b A G 4: 149,305,024 (GRCm39) S967P probably damaging Het
Klra17 A G 6: 129,851,780 (GRCm39) S31P probably benign Het
Kmt2d C T 15: 98,742,615 (GRCm39) E4182K unknown Het
Lama5 T C 2: 179,822,677 (GRCm39) D2825G probably damaging Het
Lmtk2 T C 5: 144,108,566 (GRCm39) V336A probably damaging Het
Mad1l1 A G 5: 140,074,438 (GRCm39) I584T probably benign Het
Magea1 T A X: 153,871,787 (GRCm39) N313I possibly damaging Het
Mapt T C 11: 104,189,440 (GRCm39) S153P probably benign Het
Myo1e T C 9: 70,291,172 (GRCm39) Y988H probably benign Het
Ndufc2 A T 7: 97,049,403 (GRCm39) N3I probably benign Het
Nos2 T A 11: 78,836,515 (GRCm39) V531D possibly damaging Het
Npbwr1 T A 1: 5,986,617 (GRCm39) Y299F probably damaging Het
Or4a39 A G 2: 89,237,378 (GRCm39) L15P probably damaging Het
Or4a70 A G 2: 89,324,171 (GRCm39) Y162H possibly damaging Het
Or52n20 G T 7: 104,320,296 (GRCm39) C129F probably damaging Het
Or8h10 G A 2: 86,808,591 (GRCm39) P183L probably damaging Het
Pp2d1 T C 17: 53,815,191 (GRCm39) Y511C probably benign Het
Psmb4 T C 3: 94,793,435 (GRCm39) N149D probably benign Het
Setbp1 T C 18: 78,901,516 (GRCm39) K717R probably damaging Het
Slc25a11 T C 11: 70,535,630 (GRCm39) M303V probably benign Het
Spesp1 A T 9: 62,180,242 (GRCm39) M222K probably benign Het
Tmem132d A G 5: 127,869,495 (GRCm39) M613T probably benign Het
Ugt2a2 A G 5: 87,612,029 (GRCm39) F294L probably damaging Het
Usp34 A G 11: 23,434,161 (GRCm39) T3246A Het
Zfp750 T A 11: 121,404,456 (GRCm39) I140F possibly damaging Het
Zscan4e A T 7: 11,041,574 (GRCm39) H127Q possibly damaging 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
R0370:Afg3l1 UTSW 8 124,228,293 (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
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'- GGCTCACAAAATCTAGGCTTTG -3'
(R):5'- GTAAGTGGTGTCCAAGGCAG -3'

Sequencing Primer
(F):5'- AAGCCGAAGCCAGTGTTCTTC -3'
(R):5'- AGAGGGACACTGCTCCTCAC -3'
Posted On 2021-04-30