Incidental Mutation 'R8806:Afg3l1'
ID 672067
Institutional Source Beutler Lab
Gene Symbol Afg3l1
Ensembl Gene ENSMUSG00000031967
Gene Name AFG3-like AAA ATPase 1
Synonyms 1700047G05Rik, 3110061K15Rik
MMRRC Submission 068612-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R8806 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 124204642-124230655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124220657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 462 (D462G)
Ref Sequence ENSEMBL: ENSMUSP00000001520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001520] [ENSMUST00000098320] [ENSMUST00000127664]
AlphaFold Q920A7
Predicted Effect probably damaging
Transcript: ENSMUST00000001520
AA Change: D462G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: D462G

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 damaging
Transcript: ENSMUST00000098320
AA Change: D462G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095924
Gene: ENSMUSG00000031967
AA Change: D462G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 100% (66/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,084,520 (GRCm39) M586V probably benign Het
Adam6b G A 12: 113,455,418 (GRCm39) R745H possibly damaging Het
Anapc1 T A 2: 128,464,333 (GRCm39) Q1721L possibly damaging Het
Arhgap11a T C 2: 113,665,107 (GRCm39) Y497C possibly damaging Het
Bcl7b T G 5: 135,208,824 (GRCm39) S96A possibly damaging Het
Birc6 T C 17: 74,949,311 (GRCm39) V3111A probably damaging Het
Cbx1 A G 11: 96,692,383 (GRCm39) D90G possibly damaging Het
Cdkl3 T C 11: 51,923,295 (GRCm39) F524S possibly damaging Het
Cops7b G A 1: 86,517,031 (GRCm39) G44R probably damaging Het
D130043K22Rik A G 13: 25,083,618 (GRCm39) S1028G probably benign Het
Decr1 T A 4: 15,945,351 (GRCm39) M1L probably benign Het
Dmtn T C 14: 70,852,388 (GRCm39) I167V probably benign Het
Dnah9 A G 11: 65,750,309 (GRCm39) L3932P probably damaging Het
Ece1 T A 4: 137,672,452 (GRCm39) I365N probably damaging Het
Efcab3 T A 11: 104,928,695 (GRCm39) M4815K probably benign Het
Exo5 T C 4: 120,779,602 (GRCm39) T88A probably benign Het
Frem3 T C 8: 81,390,064 (GRCm39) Y1772H probably benign Het
Gm5160 A G 18: 14,557,931 (GRCm39) N3D possibly damaging Het
Gm7138 T A 10: 77,612,717 (GRCm39) D21V unknown Het
Gm7298 C A 6: 121,761,641 (GRCm39) silent Het
Gucy2e A G 11: 69,126,942 (GRCm39) V177A probably benign Het
Islr C A 9: 58,064,256 (GRCm39) G417V unknown Het
Kif13a A T 13: 46,914,813 (GRCm39) M1458K possibly damaging Het
Mcm7 T C 5: 138,163,347 (GRCm39) D642G possibly damaging Het
Med24 A T 11: 98,595,970 (GRCm39) I941N probably damaging Het
Mrgprb8 C T 7: 48,038,976 (GRCm39) P216S possibly damaging Het
Myo5c T A 9: 75,150,054 (GRCm39) V13D probably damaging Het
N4bp2 T A 5: 65,965,551 (GRCm39) I1200K possibly damaging Het
Naip6 G A 13: 100,437,161 (GRCm39) T454M possibly damaging Het
Nfkb1 T C 3: 135,295,213 (GRCm39) Y877C probably damaging Het
Nolc1 C A 19: 46,071,471 (GRCm39) S473R unknown Het
Nop16 A C 13: 54,737,672 (GRCm39) probably benign Het
Nr3c2 T C 8: 77,969,092 (GRCm39) I959T probably damaging Het
Nup88 T G 11: 70,834,941 (GRCm39) K692N probably benign Het
Nvl C A 1: 180,922,619 (GRCm39) G818V probably benign Het
Or1i2 G T 10: 78,447,974 (GRCm39) T167N probably benign Het
Or4k6 T A 14: 50,475,376 (GRCm39) E322V probably benign Het
Or4n4 A G 14: 50,519,236 (GRCm39) I158T probably benign Het
Or4s2b T C 2: 88,508,955 (GRCm39) V245A probably benign Het
Or8b49 A T 9: 38,506,405 (GRCm39) D296V probably damaging Het
Or8k1 T C 2: 86,047,200 (GRCm39) I285V probably damaging Het
Plxnc1 G A 10: 94,635,140 (GRCm39) S1362L probably damaging Het
Ppfia2 C T 10: 106,694,114 (GRCm39) A696V probably damaging Het
Prl A G 13: 27,243,515 (GRCm39) Y62C probably damaging Het
Rnf135 A G 11: 80,089,762 (GRCm39) D366G probably damaging Het
Rrp8 A G 7: 105,384,244 (GRCm39) L86P probably damaging Het
Rsph4a T C 10: 33,785,445 (GRCm39) V452A probably damaging Het
Runx2 C A 17: 44,950,570 (GRCm39) V410L probably benign Het
Samd9l T C 6: 3,376,665 (GRCm39) T199A probably damaging Het
Sik3 T C 9: 46,120,365 (GRCm39) S745P probably damaging Het
Slc35e1 T A 8: 73,241,973 (GRCm39) S250C probably damaging Het
Snx31 A G 15: 36,537,698 (GRCm39) F160S probably damaging Het
Spata31g1 A G 4: 42,971,261 (GRCm39) D198G probably benign Het
Stim2 T A 5: 54,156,257 (GRCm39) V11E probably benign Het
Tektl1 A G 10: 78,588,306 (GRCm39) V168A probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tox4 T C 14: 52,524,318 (GRCm39) S151P probably damaging Het
Trim34b A T 7: 103,985,319 (GRCm39) D318V probably damaging Het
Ubtd1 T C 19: 42,022,195 (GRCm39) S156P probably damaging Het
Usp34 C A 11: 23,434,143 (GRCm39) L3240M Het
Vmn1r56 T C 7: 5,198,805 (GRCm39) S271G probably damaging Het
Vps13b T C 15: 35,472,212 (GRCm39) probably benign Het
Vps13c T C 9: 67,853,110 (GRCm39) F2401S probably damaging Het
Zbtb11 G A 16: 55,802,637 (GRCm39) V216I probably damaging Het
Zfp931 T C 2: 177,709,589 (GRCm39) T266A possibly damaging Het
Zfp956 A G 6: 47,933,042 (GRCm39) M106V 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
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
R8694:Afg3l1 UTSW 8 124,227,973 (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'- CTCATTGAGAGCAGATGCAGCAG -3'
(R):5'- TGGACAAGAGAAACGCCCTG -3'

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