Incidental Mutation 'R1775:Afg3l1'
ID 204336
Institutional Source Beutler Lab
Gene Symbol Afg3l1
Ensembl Gene ENSMUSG00000031967
Gene Name AFG3-like AAA ATPase 1
Synonyms 1700047G05Rik, 3110061K15Rik
MMRRC Submission 039806-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R1775 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 124204642-124230655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 124219639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 389 (R389Q)
Ref Sequence ENSEMBL: ENSMUSP00000095924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001520] [ENSMUST00000098320] [ENSMUST00000127664]
AlphaFold Q920A7
Predicted Effect possibly damaging
Transcript: ENSMUST00000001520
AA Change: R389Q

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001520
Gene: ENSMUSG00000031967
AA Change: R389Q

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 possibly damaging
Transcript: ENSMUST00000098320
AA Change: R389Q

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095924
Gene: ENSMUSG00000031967
AA Change: R389Q

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: ENSMUST00000150872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152469
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency 98% (95/97)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J04Rik A G 12: 11,272,143 (GRCm39) S20P unknown Het
4921528I07Rik G A 9: 114,108,386 (GRCm39) noncoding transcript Het
4930562C15Rik G A 16: 4,669,422 (GRCm39) probably null Het
4933427I04Rik A G 4: 123,754,286 (GRCm39) T67A possibly damaging Het
Abcc2 A T 19: 43,786,858 (GRCm39) N160Y possibly damaging Het
Acaca A G 11: 84,191,248 (GRCm39) D155G possibly damaging Het
Ank2 G A 3: 126,728,196 (GRCm39) T799M probably benign Het
Anxa2 T C 9: 69,395,363 (GRCm39) Y202H possibly damaging Het
Arhgef33 A G 17: 80,681,172 (GRCm39) T771A probably benign Het
Atp12a T C 14: 56,610,046 (GRCm39) V182A probably benign Het
Birc6 T C 17: 74,919,281 (GRCm39) L210S probably damaging Het
Car3 A G 3: 14,929,492 (GRCm39) T73A probably benign Het
Cd5l T C 3: 87,275,966 (GRCm39) L312P probably damaging Het
Celf5 A G 10: 81,303,138 (GRCm39) probably benign Het
Cep290 T A 10: 100,332,672 (GRCm39) V257E probably damaging Het
Cntrob T C 11: 69,211,693 (GRCm39) D177G possibly damaging Het
Copg2 A T 6: 30,787,271 (GRCm39) F658I probably damaging Het
Csmd3 T C 15: 47,763,135 (GRCm39) T1234A probably damaging Het
Dhx35 A G 2: 158,648,357 (GRCm39) T72A probably damaging Het
Dmrtc2 A T 7: 24,573,792 (GRCm39) H209L possibly damaging Het
Eml5 G T 12: 98,818,963 (GRCm39) probably null Het
Evpl T C 11: 116,114,486 (GRCm39) E1068G possibly damaging Het
Ezh2 A G 6: 47,553,594 (GRCm39) M41T probably damaging Het
Fmo3 A G 1: 162,796,294 (GRCm39) S93P possibly damaging Het
Gdi2 A G 13: 3,610,018 (GRCm39) Y213C possibly damaging Het
Gpr15 A T 16: 58,538,921 (GRCm39) I56K probably benign Het
Gria2 G T 3: 80,598,645 (GRCm39) S796R probably benign Het
Hectd4 T A 5: 121,429,254 (GRCm39) probably benign Het
Hgfac T C 5: 35,200,194 (GRCm39) probably benign Het
Hspg2 C T 4: 137,247,467 (GRCm39) R1200W probably damaging Het
Ift52 G A 2: 162,867,275 (GRCm39) D78N possibly damaging Het
Iqca1 C A 1: 90,009,138 (GRCm39) W415L probably damaging Het
Ism1 A T 2: 139,587,963 (GRCm39) K236N probably damaging Het
Itgb6 C T 2: 60,502,988 (GRCm39) W43* probably null Het
Kcnk18 T A 19: 59,223,773 (GRCm39) I306N probably damaging Het
Kctd8 T C 5: 69,497,903 (GRCm39) K248E probably damaging Het
Layn T A 9: 50,970,833 (GRCm39) I237F probably benign Het
Lce3f C T 3: 92,900,248 (GRCm39) P23L unknown Het
Lct A G 1: 128,228,038 (GRCm39) F1152L probably damaging Het
Mettl25b A G 3: 87,831,124 (GRCm39) S404P probably damaging Het
Mxra8 T C 4: 155,927,531 (GRCm39) I413T probably damaging Het
Nedd9 A G 13: 41,471,438 (GRCm39) V187A probably benign Het
Net1 A G 13: 3,937,642 (GRCm39) L207P probably damaging Het
Neurod1 G T 2: 79,284,781 (GRCm39) P201T probably benign Het
Nlrp1b A G 11: 71,052,647 (GRCm39) F927S probably damaging Het
Ntrk3 T A 7: 78,005,789 (GRCm39) H524L possibly damaging Het
Nup98 A C 7: 101,784,144 (GRCm39) S1063A probably benign Het
Or10ak11 T A 4: 118,687,065 (GRCm39) M191L probably benign Het
Or11h4b G T 14: 50,918,623 (GRCm39) P156Q possibly damaging Het
Or56b1 G A 7: 104,285,366 (GRCm39) V162I probably benign Het
Or5b97 C A 19: 12,878,599 (GRCm39) V182F probably benign Het
Or5m9b G A 2: 85,905,104 (GRCm39) V7I possibly damaging Het
Or6d15 T C 6: 116,559,925 (GRCm39) probably benign Het
Pdzd2 G A 15: 12,592,546 (GRCm39) R33W probably damaging Het
Phf21a G A 2: 92,160,860 (GRCm39) V243I probably damaging Het
Ppp1r12b A G 1: 134,821,086 (GRCm39) probably null Het
Rexo5 T C 7: 119,444,634 (GRCm39) V703A probably benign Het
Rgs4 A G 1: 169,572,847 (GRCm39) S30P probably benign Het
Rxra C A 2: 27,646,256 (GRCm39) D340E probably damaging Het
Samhd1 A G 2: 156,949,467 (GRCm39) V473A probably benign Het
Scn3a T A 2: 65,302,686 (GRCm39) K1253N probably damaging Het
Scn7a T C 2: 66,511,299 (GRCm39) N1207S probably benign Het
Sec24d T A 3: 123,130,166 (GRCm39) I443N probably damaging Het
Sema4g T A 19: 44,987,681 (GRCm39) probably null Het
Sema5b A G 16: 35,480,694 (GRCm39) K787R probably benign Het
Serpinc1 A G 1: 160,817,217 (GRCm39) N104D probably benign Het
Sfn T C 4: 133,328,542 (GRCm39) H180R probably damaging Het
Slc22a6 G T 19: 8,596,471 (GRCm39) probably null Het
Slc9a8 T C 2: 167,299,278 (GRCm39) S217P probably benign Het
Smc6 A G 12: 11,359,270 (GRCm39) N965D probably benign Het
Sod2 T A 17: 13,233,919 (GRCm39) I177N probably damaging Het
Sp4 A T 12: 118,263,335 (GRCm39) I237K probably damaging Het
Sulf2 T C 2: 165,921,532 (GRCm39) K697R probably benign Het
Svs4 A T 2: 164,119,005 (GRCm39) D110E unknown Het
Tas1r1 T A 4: 152,122,675 (GRCm39) R57* probably null Het
Tlr5 T C 1: 182,801,287 (GRCm39) I197T probably damaging Het
Tmc3 T C 7: 83,261,740 (GRCm39) V606A probably benign Het
Tmem241 T A 18: 12,251,469 (GRCm39) L37F probably damaging Het
Tmem59l A T 8: 70,938,903 (GRCm39) N90K probably damaging Het
Tram1 A C 1: 13,646,680 (GRCm39) probably benign Het
Trim15 T A 17: 37,176,061 (GRCm39) H162L probably benign Het
Ttc28 T A 5: 111,424,677 (GRCm39) Y1501N probably benign Het
Ttc34 T C 4: 154,946,671 (GRCm39) V857A probably benign Het
Tulp4 A G 17: 6,189,321 (GRCm39) T48A probably damaging Het
Usp9y T C Y: 1,368,089 (GRCm39) E939G probably damaging Het
Utp20 A G 10: 88,606,670 (GRCm39) I1634T probably benign Het
Vmn2r72 T C 7: 85,387,378 (GRCm39) M729V probably benign Het
Vps13c C T 9: 67,788,729 (GRCm39) T334M probably damaging Het
Wnk4 C G 11: 101,167,166 (GRCm39) probably benign Het
Xpo1 A G 11: 23,221,193 (GRCm39) N97D probably benign Het
Xpo4 A T 14: 57,841,129 (GRCm39) F518Y probably benign Het
Zfp668 C T 7: 127,465,778 (GRCm39) V469I possibly damaging Het
Zfp85 C A 13: 67,897,823 (GRCm39) C83F probably 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
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'- AATGGGTCGGAATTCCTGG -3'
(R):5'- ATACACTCCTATGGAAACCGAG -3'

Sequencing Primer
(F):5'- GTAATCAGCTACAGAGGGCTCC -3'
(R):5'- AGCCCGGCAGATCCACTC -3'
Posted On 2014-06-23