Incidental Mutation 'R6543:Atl3'
ID 520974
Institutional Source Beutler Lab
Gene Symbol Atl3
Ensembl Gene ENSMUSG00000024759
Gene Name atlastin GTPase 3
Synonyms 5730596K20Rik, 4633402C03Rik
MMRRC Submission 044669-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6543 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 7471178-7515974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7487463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 126 (F126Y)
Ref Sequence ENSEMBL: ENSMUSP00000025668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025668] [ENSMUST00000170373]
AlphaFold Q91YH5
Predicted Effect probably damaging
Transcript: ENSMUST00000025668
AA Change: F126Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025668
Gene: ENSMUSG00000024759
AA Change: F126Y

DomainStartEndE-ValueType
Pfam:GBP 36 310 7.2e-99 PFAM
Pfam:GBP_C 312 438 1.7e-9 PFAM
transmembrane domain 444 466 N/A INTRINSIC
transmembrane domain 468 490 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170373
AA Change: F121Y

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132619
Gene: ENSMUSG00000024759
AA Change: F121Y

DomainStartEndE-ValueType
Pfam:GBP 31 305 9.1e-98 PFAM
Pfam:GBP_C 307 433 7.4e-10 PFAM
transmembrane domain 439 461 N/A INTRINSIC
transmembrane domain 463 485 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4e1 T C 2: 126,908,525 (GRCm39) V1091A probably benign Het
Arhgef11 A G 3: 87,640,715 (GRCm39) N1320D probably benign Het
Borcs5 C T 6: 134,687,143 (GRCm39) T167M probably damaging Het
Cplane2 T G 4: 140,944,599 (GRCm39) V50G probably benign Het
Creld2 A G 15: 88,709,481 (GRCm39) T331A probably benign Het
Cuzd1 A G 7: 130,911,497 (GRCm39) V494A probably damaging Het
Dclk1 C T 3: 55,407,552 (GRCm39) P244S probably damaging Het
Esyt3 T C 9: 99,220,825 (GRCm39) N126S possibly damaging Het
Focad T C 4: 88,197,493 (GRCm39) S629P unknown Het
Grip1 T C 10: 119,821,499 (GRCm39) L389P probably benign Het
Igkv4-91 A T 6: 68,745,582 (GRCm39) D105E probably damaging Het
Il20ra G A 10: 19,625,071 (GRCm39) A117T probably damaging Het
Il6ra A G 3: 89,784,170 (GRCm39) V367A probably damaging Het
Itga8 C T 2: 12,306,455 (GRCm39) V47M probably damaging Het
Limk2 T C 11: 3,300,682 (GRCm39) Y220C probably damaging Het
Lims1 T A 10: 58,248,273 (GRCm39) C243* probably null Het
Man1a C A 10: 53,811,077 (GRCm39) G435* probably null Het
Msantd5f4 A G 4: 73,557,215 (GRCm39) E16G probably damaging Het
Mtor T A 4: 148,630,053 (GRCm39) I2250N probably damaging Het
N4bp1 G A 8: 87,588,534 (GRCm39) Q135* probably null Het
Nbeal2 A T 9: 110,473,526 (GRCm39) D76E probably benign Het
Nbn T C 4: 15,986,605 (GRCm39) S669P probably benign Het
Nfrkb C T 9: 31,312,281 (GRCm39) Q456* probably null Het
Or6c3b C A 10: 129,527,859 (GRCm39) G17V probably benign Het
Pcnx3 C T 19: 5,715,275 (GRCm39) A1557T probably benign Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Prokr2 T A 2: 132,215,819 (GRCm39) Q53L probably benign Het
Pxmp4 C A 2: 154,429,979 (GRCm39) A137S possibly damaging Het
Rasef C T 4: 73,698,756 (GRCm39) probably benign Het
Scpppq1 T C 5: 104,222,741 (GRCm39) probably benign Het
Scrt2 C T 2: 151,935,063 (GRCm39) A72V probably benign Het
Sipa1l2 T C 8: 126,177,101 (GRCm39) E1171G possibly damaging Het
Slc26a8 T C 17: 28,857,375 (GRCm39) T923A possibly damaging Het
Slco1a6 T C 6: 142,078,872 (GRCm39) K141R probably benign Het
Slfn5 T A 11: 82,849,492 (GRCm39) probably null Het
Sympk A T 7: 18,770,755 (GRCm39) H282L probably damaging Het
Tnr A G 1: 159,751,677 (GRCm39) Y1324C probably damaging Het
Topaz1 A G 9: 122,577,600 (GRCm39) N170S possibly damaging Het
Trav6-3 T C 14: 53,666,219 (GRCm39) M1T probably null Het
Trim66 A G 7: 109,075,086 (GRCm39) S392P probably benign Het
Ttn T C 2: 76,599,155 (GRCm39) T10958A probably damaging Het
Ubr7 A G 12: 102,734,494 (GRCm39) K256R probably benign Het
Other mutations in Atl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02667:Atl3 APN 19 7,486,781 (GRCm39) missense possibly damaging 0.72
R0042:Atl3 UTSW 19 7,506,388 (GRCm39) missense probably damaging 1.00
R0607:Atl3 UTSW 19 7,507,031 (GRCm39) critical splice donor site probably null
R0975:Atl3 UTSW 19 7,498,500 (GRCm39) nonsense probably null
R1582:Atl3 UTSW 19 7,494,264 (GRCm39) missense probably damaging 1.00
R4195:Atl3 UTSW 19 7,495,911 (GRCm39) missense possibly damaging 0.59
R4249:Atl3 UTSW 19 7,509,703 (GRCm39) missense probably benign 0.06
R4505:Atl3 UTSW 19 7,498,184 (GRCm39) missense probably benign 0.00
R4836:Atl3 UTSW 19 7,486,910 (GRCm39) nonsense probably null
R5649:Atl3 UTSW 19 7,509,592 (GRCm39) missense possibly damaging 0.50
R5721:Atl3 UTSW 19 7,506,376 (GRCm39) missense probably benign 0.00
R6459:Atl3 UTSW 19 7,498,163 (GRCm39) missense probably benign 0.07
R6530:Atl3 UTSW 19 7,499,499 (GRCm39) missense probably benign
R6550:Atl3 UTSW 19 7,499,503 (GRCm39) missense probably benign
R7059:Atl3 UTSW 19 7,511,334 (GRCm39) missense probably benign 0.08
R7059:Atl3 UTSW 19 7,511,333 (GRCm39) missense probably benign
R7220:Atl3 UTSW 19 7,506,433 (GRCm39) missense probably null 0.02
R7666:Atl3 UTSW 19 7,487,405 (GRCm39) missense probably benign 0.19
R9143:Atl3 UTSW 19 7,509,408 (GRCm39) missense probably benign 0.01
R9206:Atl3 UTSW 19 7,487,447 (GRCm39) missense probably benign 0.09
R9208:Atl3 UTSW 19 7,487,447 (GRCm39) missense probably benign 0.09
R9631:Atl3 UTSW 19 7,509,553 (GRCm39) missense probably benign 0.00
R9709:Atl3 UTSW 19 7,507,921 (GRCm39) missense probably benign 0.00
R9733:Atl3 UTSW 19 7,509,705 (GRCm39) missense probably damaging 0.99
X0020:Atl3 UTSW 19 7,507,934 (GRCm39) missense probably benign 0.00
Z1176:Atl3 UTSW 19 7,487,402 (GRCm39) missense probably damaging 1.00
Z1177:Atl3 UTSW 19 7,507,918 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TGCTGCGATACTTATATTCTCAGGTA -3'
(R):5'- AGGCTTCGTCATGTGACTCC -3'

Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- AGCCTAGTGTTACCTACCGAG -3'
Posted On 2018-06-06