Incidental Mutation 'PIT4791001:Atxn1l'
ID 556976
Institutional Source Beutler Lab
Gene Symbol Atxn1l
Ensembl Gene ENSMUSG00000069895
Gene Name ataxin 1-like
Synonyms Boat, C330011L24Rik, D8Ertd587e, ENSMUSG00000069895
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.332) question?
Stock # PIT4791001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 110453083-110464371 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110458579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 561 (L561P)
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: L561P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090850
Gene: ENSMUSG00000069895
AA Change: L561P

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: L561P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212726
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.8%
  • 10x: 83.3%
  • 20x: 68.6%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 G A 15: 72,993,089 (GRCm39) T472I possibly damaging Het
Ambp T A 4: 63,072,298 (GRCm39) probably benign Het
As3mt T A 19: 46,708,788 (GRCm39) F261I probably damaging Het
Cnr2 A G 4: 135,644,263 (GRCm39) T114A probably damaging Het
Dchs1 A G 7: 105,408,178 (GRCm39) Y1885H probably damaging Het
Dcn A G 10: 97,343,604 (GRCm39) N188S probably benign Het
Dennd6b A C 15: 89,070,955 (GRCm39) probably null Het
Dstyk A G 1: 132,377,665 (GRCm39) T424A probably benign Het
Gabrr3 A G 16: 59,250,298 (GRCm39) probably null Het
Gnai3 A G 3: 108,025,621 (GRCm39) S153P probably benign Het
Igkv2-112 T A 6: 68,197,599 (GRCm39) S90R probably damaging Het
Lxn T C 3: 67,365,979 (GRCm39) D173G probably damaging Het
Mcm3ap T A 10: 76,342,307 (GRCm39) I1600N probably damaging Het
Myof A T 19: 37,971,406 (GRCm39) probably null Het
Nrxn1 T C 17: 90,762,931 (GRCm39) probably benign Het
Oaz3 A G 3: 94,340,852 (GRCm39) Y232H unknown Het
Or5aq1b A T 2: 86,902,046 (GRCm39) M144K possibly damaging Het
Pkdcc C T 17: 83,527,577 (GRCm39) R252* probably null Het
Plcl1 A G 1: 55,741,090 (GRCm39) N907S probably benign Het
Plscr1 T A 9: 92,145,150 (GRCm39) Y53* probably null Het
Pm20d2 T C 4: 33,174,756 (GRCm39) T377A probably benign Het
Ptchd3 T A 11: 121,722,875 (GRCm39) V321D probably damaging Het
Ranbp3l T C 15: 9,060,829 (GRCm39) I366T probably damaging Het
Sardh T C 2: 27,087,660 (GRCm39) E737G probably damaging Het
Scart2 T C 7: 139,853,975 (GRCm39) F326S possibly damaging Het
Scn1a T C 2: 66,103,626 (GRCm39) E1878G probably benign Het
Slit3 T C 11: 35,552,072 (GRCm39) V872A possibly damaging Het
Sugp2 C T 8: 70,713,195 (GRCm39) Q1054* probably null Het
Syne3 T C 12: 104,929,438 (GRCm39) T261A probably benign Het
Tgif2 T C 2: 156,695,232 (GRCm39) S126P probably benign Het
Ticrr T C 7: 79,319,386 (GRCm39) V457A possibly damaging Het
Tm7sf2 T C 19: 6,113,635 (GRCm39) I299V probably benign Het
Tnks1bp1 A G 2: 84,892,902 (GRCm39) E943G probably benign Het
Tpd52l2 T A 2: 181,141,681 (GRCm39) F21L probably benign Het
Tpm2 A G 4: 43,519,263 (GRCm39) L176P probably benign Het
Trim34a C A 7: 103,909,691 (GRCm39) T293K probably benign Het
Ttc23 A T 7: 67,312,135 (GRCm39) D14V probably damaging Het
Twsg1 T C 17: 66,236,706 (GRCm39) E108G probably benign Het
Txndc15 C T 13: 55,869,507 (GRCm39) A220V probably benign Het
Vmn1r183 A G 7: 23,754,266 (GRCm39) Q23R probably damaging Het
Vmn1r31 A G 6: 58,449,028 (GRCm39) V279A probably damaging Het
Vmo1 A C 11: 70,404,661 (GRCm39) C113W probably damaging Het
Zfp984 A G 4: 147,840,603 (GRCm39) S83P probably benign Het
Zik1 A C 7: 10,226,256 (GRCm39) L37R probably benign 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
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
R7718:Atxn1l UTSW 8 110,459,866 (GRCm39) missense probably damaging 1.00
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'- TCGCTGTCACATAGGTCTCTGG -3'
(R):5'- AGACCCAGGATTTTGTGCG -3'

Sequencing Primer
(F):5'- ATAGGTCTCTGGGCCCCAAG -3'
(R):5'- GGCTGAAAATTGACTCTAGCACAGTC -3'
Posted On 2019-06-07