Incidental Mutation 'IGL03163:Atxn1l'
ID411510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atxn1l
Ensembl Gene ENSMUSG00000069895
Gene Nameataxin 1-like
SynonymsBoat, C330011L24Rik, ENSMUSG00000069895, D8Ertd587e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.481) question?
Stock #IGL03163
Quality Score
Status
Chromosome8
Chromosomal Location109726451-109737739 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 109732385 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 415 (N415S)
Ref Sequence ENSEMBL: ENSMUSP00000148324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093162] [ENSMUST00000212605] [ENSMUST00000212726]
Predicted Effect probably damaging
Transcript: ENSMUST00000093162
AA Change: N415S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090850
Gene: ENSMUSG00000069895
AA Change: N415S

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: N415S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000212726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212894
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,181,417 D393V probably benign Het
Amz2 C A 11: 109,428,925 Q46K probably benign Het
Ankhd1 G A 18: 36,647,628 R1911H probably damaging Het
Apba3 A G 10: 81,269,223 probably null Het
Ccdc36 G T 9: 108,404,933 L519I probably benign Het
Clu C T 14: 65,979,786 S356F probably benign Het
Cluh T C 11: 74,666,068 V1029A probably benign Het
Creb3 C T 4: 43,566,315 L274F probably damaging Het
Cyhr1 A T 15: 76,659,274 L13Q probably damaging Het
Dcaf8 T C 1: 172,172,908 V211A probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Fam131c T C 4: 141,382,758 F156L probably damaging Het
Fbxw21 T A 9: 109,145,484 I323F probably benign Het
Fmo9 A G 1: 166,674,450 V202A possibly damaging Het
Gipr C T 7: 19,162,556 W205* probably null Het
Gm13941 A T 2: 111,098,416 I99K unknown Het
Gpr22 A T 12: 31,709,172 V317E possibly damaging Het
Hace1 T C 10: 45,672,605 I582T probably damaging Het
Khdrbs1 T C 4: 129,725,715 E211G probably benign Het
Lonrf1 T C 8: 36,230,330 D500G probably benign Het
Lrp2 A C 2: 69,501,526 Y1628* probably null Het
Lrrc40 T C 3: 158,041,587 I112T possibly damaging Het
Matr3 G A 18: 35,572,591 D190N probably damaging Het
Olfr894 T C 9: 38,219,414 V194A probably benign Het
Ptpn13 A T 5: 103,591,346 D2326V probably damaging Het
Ptpn3 T C 4: 57,222,020 D557G probably damaging Het
Rangap1 A T 15: 81,716,600 N194K probably damaging Het
Rasgef1c T C 11: 49,971,373 V363A possibly damaging Het
Ric8b A G 10: 85,001,822 N498D probably damaging Het
Scn1a A C 2: 66,318,074 D22E probably benign Het
Spc25 T G 2: 69,197,204 I115L probably damaging Het
Sspo A G 6: 48,484,332 H3569R probably benign Het
Stra6l T C 4: 45,881,455 I439T probably benign Het
Trappc12 G T 12: 28,746,654 P293Q probably damaging Het
Trcg1 T C 9: 57,248,347 L761P possibly damaging Het
Usp15 A C 10: 123,171,144 M144R probably damaging Het
Vmn2r11 T C 5: 109,053,826 I271V probably benign Het
Zcchc2 T C 1: 106,031,111 V1104A probably damaging Het
Other mutations in Atxn1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Atxn1l APN 8 109732680 missense probably benign
PIT4791001:Atxn1l UTSW 8 109731947 missense probably damaging 1.00
R0432:Atxn1l UTSW 8 109731693 missense probably damaging 1.00
R0452:Atxn1l UTSW 8 109732395 missense possibly damaging 0.80
R0684:Atxn1l UTSW 8 109732384 missense probably damaging 1.00
R1241:Atxn1l UTSW 8 109732980 missense probably benign 0.03
R1488:Atxn1l UTSW 8 109733417 missense probably benign 0.37
R1531:Atxn1l UTSW 8 109732059 missense probably damaging 1.00
R2115:Atxn1l UTSW 8 109732608 missense probably benign
R2484:Atxn1l UTSW 8 109732251 missense probably damaging 0.97
R3547:Atxn1l UTSW 8 109732349 missense possibly damaging 0.95
R4612:Atxn1l UTSW 8 109732104 missense possibly damaging 0.81
R5499:Atxn1l UTSW 8 109731632 missense probably damaging 1.00
R6946:Atxn1l UTSW 8 109732016 missense probably damaging 1.00
R7101:Atxn1l UTSW 8 109732500 missense probably benign
R7718:Atxn1l UTSW 8 109733234 missense probably damaging 1.00
R8144:Atxn1l UTSW 8 109732601 missense probably benign 0.01
Posted On2016-08-02