Incidental Mutation 'IGL03344:Atxn7l1'
ID417382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atxn7l1
Ensembl Gene ENSMUSG00000020564
Gene Nameataxin 7-like 1
SynonymsAtxn7l4, 2810423G08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL03344
Quality Score
Status
Chromosome12
Chromosomal Location33147693-33373185 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 33326066 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 47 (N47D)
Ref Sequence ENSEMBL: ENSMUSP00000122982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090597] [ENSMUST00000125192] [ENSMUST00000136644] [ENSMUST00000144586] [ENSMUST00000146040] [ENSMUST00000154742]
Predicted Effect probably damaging
Transcript: ENSMUST00000090597
AA Change: N47D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088085
Gene: ENSMUSG00000020564
AA Change: N47D

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 95 110 N/A INTRINSIC
Pfam:SCA7 143 220 2.5e-31 PFAM
low complexity region 274 288 N/A INTRINSIC
low complexity region 380 392 N/A INTRINSIC
low complexity region 471 501 N/A INTRINSIC
low complexity region 519 538 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000125192
AA Change: N143D

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118777
Gene: ENSMUSG00000020564
AA Change: N143D

DomainStartEndE-ValueType
low complexity region 95 114 N/A INTRINSIC
low complexity region 191 206 N/A INTRINSIC
Pfam:SCA7 246 314 2e-28 PFAM
low complexity region 370 384 N/A INTRINSIC
low complexity region 476 488 N/A INTRINSIC
low complexity region 567 597 N/A INTRINSIC
low complexity region 615 634 N/A INTRINSIC
low complexity region 792 810 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133549
SMART Domains Protein: ENSMUSP00000120569
Gene: ENSMUSG00000020564

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 95 110 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000136644
AA Change: N120D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000144586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145589
Predicted Effect possibly damaging
Transcript: ENSMUST00000146040
AA Change: N143D

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122156
Gene: ENSMUSG00000020564
AA Change: N143D

DomainStartEndE-ValueType
low complexity region 95 114 N/A INTRINSIC
low complexity region 191 206 N/A INTRINSIC
Pfam:SCA7 246 314 2.3e-28 PFAM
low complexity region 370 384 N/A INTRINSIC
low complexity region 526 540 N/A INTRINSIC
low complexity region 578 590 N/A INTRINSIC
low complexity region 669 699 N/A INTRINSIC
low complexity region 717 736 N/A INTRINSIC
low complexity region 894 912 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000154742
AA Change: N47D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122982
Gene: ENSMUSG00000020564
AA Change: N47D

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 95 110 N/A INTRINSIC
Pfam:SCA7 150 218 1.3e-31 PFAM
low complexity region 274 288 N/A INTRINSIC
low complexity region 380 392 N/A INTRINSIC
low complexity region 471 501 N/A INTRINSIC
low complexity region 519 538 N/A INTRINSIC
low complexity region 696 714 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155386
SMART Domains Protein: ENSMUSP00000115463
Gene: ENSMUSG00000020564

DomainStartEndE-ValueType
low complexity region 14 33 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,248,376 I26N probably damaging Het
2410089E03Rik C A 15: 8,187,458 P720Q possibly damaging Het
AI314180 A C 4: 58,828,538 V965G probably damaging Het
Armc4 C A 18: 7,129,434 G915* probably null Het
BC003331 T C 1: 150,363,544 E386G probably damaging Het
Cer1 A T 4: 82,884,825 W87R probably damaging Het
Chrna2 A G 14: 66,150,966 K477E probably damaging Het
Chtf8 G A 8: 106,886,272 P12S probably damaging Het
Deaf1 A T 7: 141,297,548 H555Q probably benign Het
Dopey1 T G 9: 86,536,144 I1975M probably damaging Het
Fsd2 C A 7: 81,559,909 V62L probably benign Het
Fxyd6 T G 9: 45,392,250 L81R probably benign Het
Htt T A 5: 34,879,828 S2086T probably benign Het
Htt T A 5: 34,907,466 S3008T probably benign Het
Mybbp1a G T 11: 72,445,202 R447L probably damaging Het
Nup210 A G 6: 91,021,429 V792A possibly damaging Het
Olfr342 T C 2: 36,528,128 S239P probably damaging Het
Olfr392 T A 11: 73,814,177 I302L probably benign Het
Prokr1 T C 6: 87,588,500 D121G possibly damaging Het
Puf60 A G 15: 76,070,380 V548A possibly damaging Het
Serpina3c T C 12: 104,147,264 I408V probably benign Het
Ska2 A G 11: 87,109,313 probably benign Het
Slc4a9 T A 18: 36,535,601 Y745N probably damaging Het
Speer4f1 A G 5: 17,480,334 E209G possibly damaging Het
Spg20 T C 3: 55,121,685 M299T probably benign Het
Tmem202 T C 9: 59,519,068 T272A possibly damaging Het
Vegfc T A 8: 54,157,151 I114N possibly damaging Het
Vmn1r61 T A 7: 5,610,494 T274S possibly damaging Het
Zfpm2 A G 15: 41,102,774 N753S probably benign Het
Zmym6 A G 4: 127,120,521 T624A probably damaging Het
Other mutations in Atxn7l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02130:Atxn7l1 APN 12 33342142 missense probably damaging 1.00
IGL02146:Atxn7l1 APN 12 33368031 missense probably benign
IGL02202:Atxn7l1 APN 12 33342078 missense probably benign 0.05
IGL02804:Atxn7l1 APN 12 33367789 missense probably damaging 1.00
R0270:Atxn7l1 UTSW 12 33342151 missense possibly damaging 0.58
R0621:Atxn7l1 UTSW 12 33326100 missense probably benign 0.15
R1840:Atxn7l1 UTSW 12 33371033 unclassified probably null
R1856:Atxn7l1 UTSW 12 33358770 missense probably damaging 1.00
R1992:Atxn7l1 UTSW 12 33358744 missense probably damaging 1.00
R1993:Atxn7l1 UTSW 12 33345977 missense probably benign
R2249:Atxn7l1 UTSW 12 33358840 missense probably damaging 1.00
R2369:Atxn7l1 UTSW 12 33358850 critical splice donor site probably null
R3695:Atxn7l1 UTSW 12 33358697 missense probably damaging 1.00
R3856:Atxn7l1 UTSW 12 33367600 missense probably damaging 1.00
R3976:Atxn7l1 UTSW 12 33325955 missense probably damaging 1.00
R4151:Atxn7l1 UTSW 12 33364482 missense probably damaging 0.96
R4301:Atxn7l1 UTSW 12 33367238 missense probably damaging 1.00
R4305:Atxn7l1 UTSW 12 33341992 missense probably damaging 0.99
R4411:Atxn7l1 UTSW 12 33194887 intron probably benign
R4763:Atxn7l1 UTSW 12 33358878 intron probably benign
R5049:Atxn7l1 UTSW 12 33358687 missense probably benign 0.00
R5090:Atxn7l1 UTSW 12 33326078 missense probably damaging 1.00
R5134:Atxn7l1 UTSW 12 33372876 missense probably damaging 1.00
R5425:Atxn7l1 UTSW 12 33367120 missense probably damaging 1.00
R6161:Atxn7l1 UTSW 12 33358663 missense possibly damaging 0.62
R6813:Atxn7l1 UTSW 12 33367124 missense probably damaging 0.96
R7248:Atxn7l1 UTSW 12 33367195 missense probably benign 0.26
R7328:Atxn7l1 UTSW 12 33148503 critical splice donor site probably null
Posted On2016-08-02