Incidental Mutation 'R6974:Atl1'
ID 542373
Institutional Source Beutler Lab
Gene Symbol Atl1
Ensembl Gene ENSMUSG00000021066
Gene Name atlastin GTPase 1
Synonyms AD-FSP, Spg3a, FSP1, SPG3
MMRRC Submission 045084-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R6974 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 69939879-70010859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69972813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 44 (H44Q)
Ref Sequence ENSEMBL: ENSMUSP00000152131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021466] [ENSMUST00000223456]
AlphaFold Q8BH66
Predicted Effect probably damaging
Transcript: ENSMUST00000021466
AA Change: H44Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: H44Q

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:GBP 43 314 2.3e-103 PFAM
low complexity region 350 363 N/A INTRINSIC
Blast:HAMP 468 519 9e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000223456
AA Change: H44Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the dynamin family of GTPases. The encoded protein interacts with tubule-shaping proteins of the endoplasmic reticulum. Mutations in the homologous human gene can cause hereditary spastic paraplegia. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous animals show a gait disturbance characterized by external rotation of the hind feet with footprint analysis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b T A 12: 70,206,221 (GRCm39) N67K probably benign Het
Amotl1 C A 9: 14,556,216 (GRCm39) E37* probably null Het
Ap4b1 C A 3: 103,720,601 (GRCm39) Y90* probably null Het
Apc A G 18: 34,431,480 (GRCm39) E277G possibly damaging Het
Atp6v0b G A 4: 117,742,864 (GRCm39) T74M probably benign Het
Auts2 T C 5: 131,469,437 (GRCm39) T627A probably benign Het
B4galnt4 T A 7: 140,647,449 (GRCm39) I372N possibly damaging Het
B4galt2 A G 4: 117,731,148 (GRCm39) S338P probably damaging Het
Cfap43 A C 19: 47,773,717 (GRCm39) probably null Het
Col4a1 T C 8: 11,362,538 (GRCm39) probably benign Het
Col7a1 A C 9: 108,798,494 (GRCm39) I1741L possibly damaging Het
Coprs A T 8: 13,935,750 (GRCm39) S90T probably benign Het
Csrnp3 T C 2: 65,779,408 (GRCm39) V40A possibly damaging Het
Ephx1 C A 1: 180,827,287 (GRCm39) probably null Het
Erich6 C A 3: 58,526,220 (GRCm39) R594L probably benign Het
F2rl2 A T 13: 95,837,038 (GRCm39) N28Y probably damaging Het
Fbxo38 A T 18: 62,639,740 (GRCm39) N1041K possibly damaging Het
Fcgr2b C T 1: 170,790,977 (GRCm39) probably null Het
Fsip2 T A 2: 82,809,061 (GRCm39) N1793K probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gcnt3 A G 9: 69,942,169 (GRCm39) I133T probably damaging Het
Gm57859 A G 11: 113,578,818 (GRCm39) D71G probably benign Het
Hoxa1 T A 6: 52,135,021 (GRCm39) I61F probably damaging Het
Impact C T 18: 13,115,169 (GRCm39) L102F probably damaging Het
Ist1 A T 8: 110,404,284 (GRCm39) I196N probably damaging Het
Kcnv2 T A 19: 27,311,282 (GRCm39) S550T probably benign Het
Krt1c A T 15: 101,726,314 (GRCm39) S75T unknown Het
Krtap21-1 A G 16: 89,200,466 (GRCm39) S59P unknown Het
Lef1 A T 3: 130,905,223 (GRCm39) I35F probably damaging Het
Lpcat2 A C 8: 93,599,707 (GRCm39) N225T probably damaging Het
Lztfl1 A T 9: 123,538,649 (GRCm39) N142K probably benign Het
Mdh1b G A 1: 63,760,975 (GRCm39) H88Y probably benign Het
Mettl26 A G 17: 26,095,658 (GRCm39) D171G probably damaging Het
Mrps24 A T 11: 5,654,663 (GRCm39) M97K probably benign Het
Ms4a14 A T 19: 11,279,499 (GRCm39) C1020S probably benign Het
Mterf1a A T 5: 3,940,854 (GRCm39) I338K probably benign Het
Odad2 A T 18: 7,294,479 (GRCm39) Y45N probably benign Het
Or1e22 A G 11: 73,377,299 (GRCm39) I117T probably benign Het
Or4p20 T C 2: 88,254,156 (GRCm39) Y71C possibly damaging Het
Or52s1b T A 7: 102,822,442 (GRCm39) H134L probably damaging Het
Or7g12 T A 9: 18,899,689 (GRCm39) I135N probably damaging Het
Paqr3 T A 5: 97,256,146 (GRCm39) H76L probably damaging Het
Parp1 T A 1: 180,417,071 (GRCm39) Y618* probably null Het
Pilrb2 C T 5: 137,870,049 (GRCm39) probably benign Het
Pkm A G 9: 59,575,853 (GRCm39) N90D probably damaging Het
Pla2g4c T G 7: 13,078,459 (GRCm39) probably null Het
Plppr4 C T 3: 117,116,667 (GRCm39) V339I probably damaging Het
Pnkp T A 7: 44,510,462 (GRCm39) D304E probably damaging Het
Pnlip T C 19: 58,668,067 (GRCm39) probably null Het
Polr2a A G 11: 69,638,026 (GRCm39) C148R probably damaging Het
Ppp1r10 G A 17: 36,240,443 (GRCm39) G578S probably benign Het
Ptges2 C T 2: 32,287,683 (GRCm39) T137I possibly damaging Het
Ptpre T C 7: 135,270,877 (GRCm39) V344A possibly damaging Het
Rag1 A G 2: 101,472,137 (GRCm39) F1002L probably damaging Het
Rcn2 T A 9: 55,960,298 (GRCm39) Y188* probably null Het
Rest A G 5: 77,416,046 (GRCm39) S87G probably damaging Het
Rgsl1 C T 1: 153,675,568 (GRCm39) D913N probably damaging Het
Scp2 A G 4: 107,928,475 (GRCm39) M1T probably null Het
Slamf8 T A 1: 172,415,590 (GRCm39) N83Y probably damaging Het
Slc26a11 T A 11: 119,248,844 (GRCm39) F75Y possibly damaging Het
Slc26a5 A G 5: 22,045,570 (GRCm39) S133P probably damaging Het
Sncb A T 13: 54,910,487 (GRCm39) V83E probably damaging Het
Tmem243 A G 5: 9,151,348 (GRCm39) T11A probably damaging Het
Trim38 A G 13: 23,973,502 (GRCm39) N277D probably benign Het
Vmn1r189 C T 13: 22,286,628 (GRCm39) G70S probably damaging Het
Vmn2r-ps117 A G 17: 19,058,495 (GRCm39) R684G probably benign Het
Wdr59 T C 8: 112,187,420 (GRCm39) N792D possibly damaging Het
Wnt5a A G 14: 28,244,527 (GRCm39) D238G possibly damaging Het
Zbtb42 C A 12: 112,646,824 (GRCm39) T333K probably damaging Het
Zfp119b A G 17: 56,245,564 (GRCm39) S509P probably benign Het
Zfp365 T A 10: 67,745,594 (GRCm39) K61N probably damaging Het
Zfp553 T C 7: 126,835,825 (GRCm39) F460S probably damaging Het
Zfp788 C T 7: 41,299,301 (GRCm39) Q594* probably null Het
Zfp984 T A 4: 147,845,707 (GRCm39) M1L possibly damaging Het
Zmiz2 T A 11: 6,347,566 (GRCm39) Y291* probably null Het
Other mutations in Atl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00824:Atl1 APN 12 69,979,012 (GRCm39) missense probably damaging 0.99
IGL02035:Atl1 APN 12 70,007,318 (GRCm39) unclassified probably benign
IGL02229:Atl1 APN 12 69,972,799 (GRCm39) missense probably benign 0.01
IGL03282:Atl1 APN 12 70,001,238 (GRCm39) missense possibly damaging 0.87
IGL03374:Atl1 APN 12 70,002,141 (GRCm39) missense probably damaging 1.00
R1538:Atl1 UTSW 12 69,972,962 (GRCm39) missense probably benign 0.02
R1819:Atl1 UTSW 12 70,010,074 (GRCm39) missense probably benign
R1903:Atl1 UTSW 12 70,006,049 (GRCm39) missense probably damaging 0.98
R1961:Atl1 UTSW 12 70,000,274 (GRCm39) missense probably benign 0.00
R1990:Atl1 UTSW 12 70,010,102 (GRCm39) missense probably damaging 1.00
R2126:Atl1 UTSW 12 69,978,431 (GRCm39) splice site probably null
R3724:Atl1 UTSW 12 70,006,154 (GRCm39) missense probably damaging 0.99
R4402:Atl1 UTSW 12 70,005,973 (GRCm39) missense probably benign 0.09
R5241:Atl1 UTSW 12 70,005,887 (GRCm39) missense possibly damaging 0.52
R5256:Atl1 UTSW 12 70,006,107 (GRCm39) missense probably damaging 1.00
R5285:Atl1 UTSW 12 70,001,273 (GRCm39) missense probably benign 0.18
R5866:Atl1 UTSW 12 69,972,785 (GRCm39) missense probably damaging 0.98
R6001:Atl1 UTSW 12 69,979,057 (GRCm39) missense possibly damaging 0.92
R6434:Atl1 UTSW 12 70,006,199 (GRCm39) nonsense probably null
R6677:Atl1 UTSW 12 70,000,218 (GRCm39) missense probably damaging 0.99
R6728:Atl1 UTSW 12 69,994,324 (GRCm39) missense possibly damaging 0.95
R7013:Atl1 UTSW 12 70,000,214 (GRCm39) missense probably damaging 1.00
R7121:Atl1 UTSW 12 69,978,408 (GRCm39) missense probably damaging 0.99
R7224:Atl1 UTSW 12 70,002,127 (GRCm39) missense probably benign
R7437:Atl1 UTSW 12 69,978,396 (GRCm39) missense probably benign 0.37
R8043:Atl1 UTSW 12 70,005,989 (GRCm39) missense probably damaging 1.00
R8319:Atl1 UTSW 12 70,002,093 (GRCm39) missense probably damaging 0.99
R8843:Atl1 UTSW 12 69,972,922 (GRCm39) missense probably damaging 0.98
Z1176:Atl1 UTSW 12 69,983,849 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- CAGGTGACATGGTCTGAGTG -3'
(R):5'- TGGGAACAATGACTTTACGTGC -3'

Sequencing Primer
(F):5'- GAGATGAACATGCTCACTCTGCTTG -3'
(R):5'- GGAACAATGACTTTACGTGCCCTTTC -3'
Posted On 2018-11-28