Incidental Mutation 'R8719:Atxn1l'
ID 670018
Institutional Source Beutler Lab
Gene Symbol Atxn1l
Ensembl Gene ENSMUSG00000069895
Gene Name ataxin 1-like
Synonyms Boat, C330011L24Rik, D8Ertd587e, ENSMUSG00000069895
MMRRC Submission 068614-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.332) question?
Stock # R8719 (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 T at 110459861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 134 (S134T)
Ref Sequence ENSEMBL: ENSMUSP00000148324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093162] [ENSMUST00000212605] [ENSMUST00000212726]
AlphaFold P0C7T6
Predicted Effect possibly damaging
Transcript: ENSMUST00000093162
AA Change: S134T

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000090850
Gene: ENSMUSG00000069895
AA Change: S134T

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 possibly damaging
Transcript: ENSMUST00000212605
AA Change: S134T

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000212726
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T C 8: 46,966,700 (GRCm39) I224T probably benign Het
Adamts20 C G 15: 94,241,903 (GRCm39) A702P probably damaging Het
Ahdc1 T A 4: 132,791,533 (GRCm39) Y925N possibly damaging Het
Anapc1 T C 2: 128,483,369 (GRCm39) E1242G probably damaging Het
Angptl2 A G 2: 33,133,914 (GRCm39) N412S possibly damaging Het
Aox3 T C 1: 58,158,696 (GRCm39) V89A probably damaging Het
Brf1 C A 12: 112,943,304 (GRCm39) probably benign Het
Cab39l A T 14: 59,734,314 (GRCm39) H11L probably benign Het
Cabcoco1 A G 10: 68,272,671 (GRCm39) probably benign Het
Ccdc150 C A 1: 54,302,668 (GRCm39) P96Q probably benign Het
Chek2 T C 5: 111,014,908 (GRCm39) V459A probably damaging Het
Cntnap2 A T 6: 45,978,161 (GRCm39) D272V probably damaging Het
Cspp1 T C 1: 10,160,516 (GRCm39) S572P possibly damaging Het
Cysltr2 T C 14: 73,267,111 (GRCm39) T200A possibly damaging Het
Dglucy T C 12: 100,804,821 (GRCm39) L104P probably damaging Het
Dnah8 T A 17: 30,960,289 (GRCm39) M2222K probably damaging Het
Dync2h1 C A 9: 7,041,641 (GRCm39) V3334F probably benign Het
Ear2 A T 14: 44,340,734 (GRCm39) T131S possibly damaging Het
Eef1akmt2 A T 7: 132,452,340 (GRCm39) V92D probably damaging Het
Fam83c T A 2: 155,671,128 (GRCm39) Q769L probably benign Het
Fanca A T 8: 124,014,867 (GRCm39) C812S probably benign Het
Gm21663 T G 5: 26,146,162 (GRCm39) R50S probably damaging Het
Gm5591 T G 7: 38,221,614 (GRCm39) S152R probably benign Het
Gm6370 T G 5: 146,430,626 (GRCm39) D270E probably damaging Het
H2-T22 T C 17: 36,352,835 (GRCm39) I91V probably benign Het
Hdac5 T C 11: 102,097,963 (GRCm39) M61V probably benign Het
Hsd17b6 A G 10: 127,829,492 (GRCm39) S237P possibly damaging Het
Khk T A 5: 31,088,374 (GRCm39) F294I possibly damaging Het
Klc1 G A 12: 111,772,509 (GRCm39) probably benign Het
Lamb3 T C 1: 193,006,099 (GRCm39) W143R probably damaging Het
Lmo2 T C 2: 103,811,264 (GRCm39) I171T probably damaging Het
Meis1 A G 11: 18,835,587 (GRCm39) S344P probably benign Het
Nf1 C A 11: 79,281,119 (GRCm39) R125S possibly damaging Het
Nrcam A G 12: 44,586,325 (GRCm39) E105G probably benign Het
Nudt22 T C 19: 6,972,638 (GRCm39) D150G possibly damaging Het
Or14j8 T C 17: 38,263,895 (GRCm39) T7A probably damaging Het
Or5an1 A G 19: 12,260,792 (GRCm39) I127V probably benign Het
Or5b109 A G 19: 13,211,836 (GRCm39) Y74C probably damaging Het
Pclo A T 5: 14,763,778 (GRCm39) R799* probably null Het
Pelp1 T C 11: 70,292,789 (GRCm39) N175S probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pik3r4 C A 9: 105,559,394 (GRCm39) S1162R probably benign Het
Pkd1l3 A T 8: 110,341,255 (GRCm39) N36I unknown Het
Pomk T A 8: 26,473,503 (GRCm39) Y150F possibly damaging Het
Rdh11 T A 12: 79,229,574 (GRCm39) H233L probably benign Het
Rln1 A T 19: 29,309,281 (GRCm39) M166K probably benign Het
Rnf40 T A 7: 127,191,834 (GRCm39) L356Q probably damaging Het
Sin3b G T 8: 73,450,139 (GRCm39) G19W unknown Het
Slc6a15 A G 10: 103,240,176 (GRCm39) R300G probably damaging Het
Sncaip A T 18: 53,027,910 (GRCm39) K433M probably damaging Het
Tead2 A T 7: 44,882,316 (GRCm39) probably benign Het
Tespa1 A G 10: 130,184,108 (GRCm39) D63G probably benign Het
Tmem117 T C 15: 94,992,248 (GRCm39) F303L probably damaging Het
Tmem270 T G 5: 134,930,650 (GRCm39) T204P probably damaging Het
Trip12 A G 1: 84,722,790 (GRCm39) V1320A probably damaging Het
Ttc7b A G 12: 100,267,812 (GRCm39) L843P probably damaging Het
Ttn T C 2: 76,543,041 (GRCm39) Y33315C probably damaging Het
Ttn A G 2: 76,607,146 (GRCm39) V17959A possibly damaging Het
Vmn2r73 A G 7: 85,521,095 (GRCm39) V291A probably damaging Het
Ywhag T A 5: 135,939,998 (GRCm39) T199S probably benign Het
Zfp810 T C 9: 22,190,571 (GRCm39) T77A 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
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
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
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'- GTTAAATGACTGAGCTGGGGATGC -3'
(R):5'- TGATGGAACTGAGGCCATCAC -3'

Sequencing Primer
(F):5'- GATGCGGCCTGTGGAGG -3'
(R):5'- CTGGCCTGACAGTAGATCAGTATG -3'
Posted On 2021-04-30