Incidental Mutation 'R7718:Atxn1l'
ID 595050
Institutional Source Beutler Lab
Gene Symbol Atxn1l
Ensembl Gene ENSMUSG00000069895
Gene Name ataxin 1-like
Synonyms Boat, C330011L24Rik, D8Ertd587e, ENSMUSG00000069895
MMRRC Submission 045775-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.332) question?
Stock # R7718 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 110453083-110464371 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110459866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 132 (L132P)
Ref Sequence ENSEMBL: ENSMUSP00000148324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093162] [ENSMUST00000212605] [ENSMUST00000212726]
AlphaFold P0C7T6
Predicted Effect probably damaging
Transcript: ENSMUST00000093162
AA Change: L132P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090850
Gene: ENSMUSG00000069895
AA Change: L132P

DomainStartEndE-ValueType
low complexity region 155 163 N/A INTRINSIC
low complexity region 182 197 N/A INTRINSIC
Pfam:AXH 467 580 3.1e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212605
AA Change: L132P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000212726
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (77/78)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display partial postnatal lethality with hydroencephaly, kyphosis, lethargy and cachexia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A T 5: 138,646,122 (GRCm39) H669L possibly damaging Het
Abcb1a A T 5: 8,765,788 (GRCm39) N700I probably damaging Het
Abcc6 T C 7: 45,626,816 (GRCm39) K1414E possibly damaging Het
Adcy5 T C 16: 35,100,785 (GRCm39) V779A probably benign Het
Agap2 A G 10: 126,915,734 (GRCm39) S82G possibly damaging Het
Aldh1l1 A G 6: 90,575,305 (GRCm39) N864S probably damaging Het
Ang2 A T 14: 51,433,217 (GRCm39) V55E probably benign Het
Ank2 A G 3: 126,758,662 (GRCm39) M179T possibly damaging Het
Atrnl1 T A 19: 57,728,615 (GRCm39) C1090* probably null Het
Bptf A G 11: 106,972,282 (GRCm39) V862A possibly damaging Het
Capn11 C A 17: 45,954,707 (GRCm39) K143N probably damaging Het
Card6 A G 15: 5,129,269 (GRCm39) V709A possibly damaging Het
Cavin4 C T 4: 48,671,984 (GRCm39) A143V probably benign Het
Cntn5 A G 9: 9,984,133 (GRCm39) I160T probably benign Het
Cyp2c40 T A 19: 39,755,782 (GRCm39) N511Y probably benign Het
Dsc2 A T 18: 20,174,835 (GRCm39) I480N probably damaging Het
Elf2 G T 3: 51,173,385 (GRCm39) probably benign Het
Enoph1 T C 5: 100,210,019 (GRCm39) V133A possibly damaging Het
Ezh2 A T 6: 47,531,125 (GRCm39) D186E probably benign Het
Fcgbpl1 T C 7: 27,846,626 (GRCm39) F1106S probably damaging Het
Gfra1 T C 19: 58,441,889 (GRCm39) D14G possibly damaging Het
Gmip C T 8: 70,270,383 (GRCm39) R698W probably damaging Het
Grk4 A G 5: 34,852,160 (GRCm39) N135D probably benign Het
Hspb6 A G 7: 30,253,772 (GRCm39) D95G probably benign Het
Htatip2 T G 7: 49,420,632 (GRCm39) H159Q possibly damaging Het
Igfn1 T C 1: 135,896,774 (GRCm39) E1264G probably benign Het
Insyn2b T C 11: 34,352,539 (GRCm39) S194P probably benign Het
Katnb1 T A 8: 95,821,836 (GRCm39) V223E possibly damaging Het
Klra6 AGG AG 6: 129,990,315 (GRCm39) probably null Het
Masp2 C T 4: 148,687,204 (GRCm39) R29C probably damaging Het
Mcm3 A T 1: 20,887,498 (GRCm39) C123* probably null Het
Mdn1 T C 4: 32,718,420 (GRCm39) V2225A probably damaging Het
Me1 A G 9: 86,561,953 (GRCm39) L44S probably damaging Het
Mlxip A G 5: 123,583,577 (GRCm39) N380S probably benign Het
Muc21 T C 17: 35,933,728 (GRCm39) T153A unknown Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Myocd A T 11: 65,109,452 (GRCm39) D106E probably damaging Het
Oat T C 7: 132,159,988 (GRCm39) I411V probably benign Het
Or2d2 A T 7: 106,727,925 (GRCm39) V225D probably damaging Het
Or5p59 T C 7: 107,702,855 (GRCm39) V113A probably benign Het
Or8k38 A G 2: 86,488,373 (GRCm39) V143A probably benign Het
Orc2 A T 1: 58,519,476 (GRCm39) H246Q possibly damaging Het
Pank4 A G 4: 155,059,100 (GRCm39) E411G probably damaging Het
Patl2 A T 2: 121,957,255 (GRCm39) probably null Het
Pcdhb15 A G 18: 37,608,216 (GRCm39) N483D probably damaging Het
Pcdhb20 A G 18: 37,638,704 (GRCm39) D410G probably damaging Het
Pdcl2 A G 5: 76,465,846 (GRCm39) C125R probably damaging Het
Peli3 C G 19: 4,984,584 (GRCm39) probably null Het
Pkd1 A G 17: 24,805,474 (GRCm39) D3313G probably benign Het
Plec A C 15: 76,061,639 (GRCm39) M2766R probably damaging Het
Ppargc1a C T 5: 51,655,504 (GRCm39) V99M probably damaging Het
Prr35 T A 17: 26,165,998 (GRCm39) R430* probably null Het
Psg19 G A 7: 18,526,368 (GRCm39) A374V probably benign Het
Psmd7 A T 8: 108,313,261 (GRCm39) F54L possibly damaging Het
Ptbp2 C T 3: 119,514,637 (GRCm39) G397R probably null Het
Ranbp3 A G 17: 57,003,718 (GRCm39) D39G probably damaging Het
Rcor3 T C 1: 191,786,021 (GRCm39) T406A probably benign Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Rpia A T 6: 70,743,602 (GRCm39) M283K probably damaging Het
Rps6kc1 T C 1: 190,604,022 (GRCm39) D200G probably benign Het
Sipa1l1 A T 12: 82,389,271 (GRCm39) K499M probably damaging Het
Slc5a4b A G 10: 75,906,407 (GRCm39) L404P probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spmip4 G A 6: 50,566,078 (GRCm39) probably null Het
St7 A C 6: 17,854,998 (GRCm39) T312P probably damaging Het
Strbp T C 2: 37,515,294 (GRCm39) E244G probably damaging Het
Tbc1d8 T G 1: 39,416,061 (GRCm39) T871P probably benign Het
Tcp1 T A 17: 13,141,049 (GRCm39) I286N probably damaging Het
Tead3 C A 17: 28,552,491 (GRCm39) V327F probably damaging Het
Tmem132c A T 5: 127,640,504 (GRCm39) T892S probably benign Het
Trmt2a T C 16: 18,068,487 (GRCm39) S65P probably benign Het
Ubp1 A G 9: 113,802,597 (GRCm39) N479S possibly damaging Het
Ubtfl1 A T 9: 18,320,527 (GRCm39) L18F possibly damaging Het
Uevld T G 7: 46,587,804 (GRCm39) M299L probably benign Het
Unc13b T A 4: 43,173,854 (GRCm39) Y1561N unknown Het
Ylpm1 A G 12: 85,075,896 (GRCm39) K874E probably damaging Het
Zbtb37 G A 1: 160,859,802 (GRCm39) R168W possibly damaging Het
Other mutations in Atxn1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Atxn1l APN 8 110,459,312 (GRCm39) missense probably benign
IGL03163:Atxn1l APN 8 110,459,017 (GRCm39) missense probably damaging 1.00
PIT4791001:Atxn1l UTSW 8 110,458,579 (GRCm39) missense probably damaging 1.00
R0432:Atxn1l UTSW 8 110,458,325 (GRCm39) missense probably damaging 1.00
R0452:Atxn1l UTSW 8 110,459,027 (GRCm39) missense possibly damaging 0.80
R0684:Atxn1l UTSW 8 110,459,016 (GRCm39) missense probably damaging 1.00
R1241:Atxn1l UTSW 8 110,459,612 (GRCm39) missense probably benign 0.03
R1488:Atxn1l UTSW 8 110,460,049 (GRCm39) missense probably benign 0.37
R1531:Atxn1l UTSW 8 110,458,691 (GRCm39) missense probably damaging 1.00
R2115:Atxn1l UTSW 8 110,459,240 (GRCm39) missense probably benign
R2484:Atxn1l UTSW 8 110,458,883 (GRCm39) missense probably damaging 0.97
R3547:Atxn1l UTSW 8 110,458,981 (GRCm39) missense possibly damaging 0.95
R4612:Atxn1l UTSW 8 110,458,736 (GRCm39) missense possibly damaging 0.81
R5499:Atxn1l UTSW 8 110,458,264 (GRCm39) missense probably damaging 1.00
R6946:Atxn1l UTSW 8 110,458,648 (GRCm39) missense probably damaging 1.00
R7101:Atxn1l UTSW 8 110,459,132 (GRCm39) missense probably benign
R8144:Atxn1l UTSW 8 110,459,233 (GRCm39) missense probably benign 0.01
R8695:Atxn1l UTSW 8 110,458,462 (GRCm39) missense probably damaging 0.97
R8719:Atxn1l UTSW 8 110,459,861 (GRCm39) missense possibly damaging 0.57
R8737:Atxn1l UTSW 8 110,460,230 (GRCm39) missense probably damaging 1.00
R8987:Atxn1l UTSW 8 110,459,117 (GRCm39) missense probably benign
R9519:Atxn1l UTSW 8 110,458,688 (GRCm39) missense probably damaging 1.00
R9545:Atxn1l UTSW 8 110,458,688 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAAATGACTGAGCTGGGGATG -3'
(R):5'- ATGGAACTGAGGCCATCAC -3'

Sequencing Primer
(F):5'- GATGCGGCCTGTGGAGG -3'
(R):5'- CTGGCCTGACAGTAGATCAGTATG -3'
Posted On 2019-11-12