Incidental Mutation 'R4301:Atxn7l1'
ID 322424
Institutional Source Beutler Lab
Gene Symbol Atxn7l1
Ensembl Gene ENSMUSG00000020564
Gene Name ataxin 7-like 1
Synonyms 2810423G08Rik, Atxn7l4
MMRRC Submission 041088-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R4301 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 33197692-33423184 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33417237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 562 (D562G)
Ref Sequence ENSEMBL: ENSMUSP00000118777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090597] [ENSMUST00000125192] [ENSMUST00000146040] [ENSMUST00000154742]
AlphaFold Q9CZ05
Predicted Effect probably damaging
Transcript: ENSMUST00000090597
AA Change: D466G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088085
Gene: ENSMUSG00000020564
AA Change: D466G

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 probably damaging
Transcript: ENSMUST00000125192
AA Change: D562G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118777
Gene: ENSMUSG00000020564
AA Change: D562G

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: ENSMUST00000126275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142184
SMART Domains Protein: ENSMUSP00000116081
Gene: ENSMUSG00000020564

DomainStartEndE-ValueType
low complexity region 25 44 N/A INTRINSIC
low complexity region 110 128 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000146040
AA Change: D664G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122156
Gene: ENSMUSG00000020564
AA Change: D664G

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: D466G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122982
Gene: ENSMUSG00000020564
AA Change: D466G

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
Meta Mutation Damage Score 0.0661 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,377,266 (GRCm39) V95D probably damaging Het
Adamtsl2 A G 2: 26,977,295 (GRCm39) D252G probably null Het
Adgra3 T C 5: 50,118,420 (GRCm39) R1043G possibly damaging Het
Ccdc70 T C 8: 22,463,228 (GRCm39) V6A possibly damaging Het
Cdc25a T C 9: 109,718,810 (GRCm39) V337A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Crb1 A G 1: 139,176,568 (GRCm39) S472P probably benign Het
Fam193b G A 13: 55,690,417 (GRCm39) R740* probably null Het
Fer G T 17: 64,385,905 (GRCm39) L292F probably damaging Het
Gmppa G A 1: 75,419,140 (GRCm39) R349H possibly damaging Het
Hspa1a T C 17: 35,189,482 (GRCm39) I474V probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc30 A G 17: 67,939,563 (GRCm39) S6P probably damaging Het
Lzts3 A G 2: 130,478,358 (GRCm39) S133P probably damaging Het
Mrtfb T C 16: 13,216,169 (GRCm39) Y294H probably damaging Het
Mtmr12 T A 15: 12,236,106 (GRCm39) F122I possibly damaging Het
Mypn A G 10: 62,954,263 (GRCm39) Y124H probably damaging Het
Nfat5 T C 8: 108,082,327 (GRCm39) probably benign Het
Npr2 T C 4: 43,641,332 (GRCm39) probably null Het
Or5a3 T C 19: 12,400,081 (GRCm39) L136P probably damaging Het
Pgm2 G A 5: 64,261,140 (GRCm39) W51* probably null Het
Phip G A 9: 82,841,766 (GRCm39) R48* probably null Het
Piezo2 T C 18: 63,217,911 (GRCm39) T1075A probably damaging Het
Ppat G T 5: 77,076,348 (GRCm39) probably benign Het
Ppp2r2b T A 18: 43,031,811 (GRCm39) E23D probably null Het
Prickle1 T C 15: 93,406,517 (GRCm39) I169V possibly damaging Het
Rab37 T A 11: 115,049,390 (GRCm39) D95E possibly damaging Het
Sash1 A G 10: 8,627,234 (GRCm39) V50A probably benign Het
Siae C A 9: 37,545,009 (GRCm39) Q335K possibly damaging Het
Snx14 A T 9: 88,292,676 (GRCm39) I217K probably damaging Het
Son A G 16: 91,455,299 (GRCm39) T1349A possibly damaging Het
Sptb A G 12: 76,659,471 (GRCm39) L1143S probably damaging Het
Trim80 T C 11: 115,335,939 (GRCm39) probably null Het
Trpm3 T C 19: 22,964,656 (GRCm39) S1374P probably benign Het
Vldlr C A 19: 27,215,802 (GRCm39) D266E possibly damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Zbtb10 A T 3: 9,330,220 (GRCm39) Q526L probably damaging Het
Zfr2 T C 10: 81,078,018 (GRCm39) probably benign Het
Zswim8 G A 14: 20,763,977 (GRCm39) R449H possibly damaging Het
Zzef1 T C 11: 72,779,861 (GRCm39) V1878A probably damaging Het
Other mutations in Atxn7l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02130:Atxn7l1 APN 12 33,392,141 (GRCm39) missense probably damaging 1.00
IGL02146:Atxn7l1 APN 12 33,418,030 (GRCm39) missense probably benign
IGL02202:Atxn7l1 APN 12 33,392,077 (GRCm39) missense probably benign 0.05
IGL02804:Atxn7l1 APN 12 33,417,788 (GRCm39) missense probably damaging 1.00
IGL03344:Atxn7l1 APN 12 33,376,065 (GRCm39) missense probably damaging 1.00
R0270:Atxn7l1 UTSW 12 33,392,150 (GRCm39) missense possibly damaging 0.58
R0621:Atxn7l1 UTSW 12 33,376,099 (GRCm39) missense probably benign 0.15
R1840:Atxn7l1 UTSW 12 33,421,032 (GRCm39) splice site probably null
R1856:Atxn7l1 UTSW 12 33,408,769 (GRCm39) missense probably damaging 1.00
R1992:Atxn7l1 UTSW 12 33,408,743 (GRCm39) missense probably damaging 1.00
R1993:Atxn7l1 UTSW 12 33,395,976 (GRCm39) missense probably benign
R2249:Atxn7l1 UTSW 12 33,408,839 (GRCm39) missense probably damaging 1.00
R2369:Atxn7l1 UTSW 12 33,408,849 (GRCm39) critical splice donor site probably null
R3695:Atxn7l1 UTSW 12 33,408,696 (GRCm39) missense probably damaging 1.00
R3856:Atxn7l1 UTSW 12 33,417,599 (GRCm39) missense probably damaging 1.00
R3976:Atxn7l1 UTSW 12 33,375,954 (GRCm39) missense probably damaging 1.00
R4151:Atxn7l1 UTSW 12 33,414,481 (GRCm39) missense probably damaging 0.96
R4305:Atxn7l1 UTSW 12 33,391,991 (GRCm39) missense probably damaging 0.99
R4411:Atxn7l1 UTSW 12 33,244,886 (GRCm39) intron probably benign
R4763:Atxn7l1 UTSW 12 33,408,877 (GRCm39) intron probably benign
R5049:Atxn7l1 UTSW 12 33,408,686 (GRCm39) missense probably benign 0.00
R5090:Atxn7l1 UTSW 12 33,376,077 (GRCm39) missense probably damaging 1.00
R5134:Atxn7l1 UTSW 12 33,422,875 (GRCm39) missense probably damaging 1.00
R5425:Atxn7l1 UTSW 12 33,417,119 (GRCm39) missense probably damaging 1.00
R6161:Atxn7l1 UTSW 12 33,408,662 (GRCm39) missense possibly damaging 0.62
R6813:Atxn7l1 UTSW 12 33,417,123 (GRCm39) missense probably damaging 0.96
R7248:Atxn7l1 UTSW 12 33,417,194 (GRCm39) missense probably benign 0.26
R7328:Atxn7l1 UTSW 12 33,198,502 (GRCm39) critical splice donor site probably null
R8020:Atxn7l1 UTSW 12 33,375,952 (GRCm39) missense probably benign 0.10
R8057:Atxn7l1 UTSW 12 33,376,001 (GRCm39) missense probably damaging 0.99
R8353:Atxn7l1 UTSW 12 33,197,882 (GRCm39) missense probably damaging 0.99
R8523:Atxn7l1 UTSW 12 33,396,023 (GRCm39) missense probably benign
R9051:Atxn7l1 UTSW 12 33,417,420 (GRCm39) missense probably benign 0.00
R9350:Atxn7l1 UTSW 12 33,417,315 (GRCm39) missense probably benign 0.01
R9789:Atxn7l1 UTSW 12 33,396,062 (GRCm39) missense probably damaging 1.00
Z1176:Atxn7l1 UTSW 12 33,418,016 (GRCm39) missense probably benign 0.00
Z1176:Atxn7l1 UTSW 12 33,417,644 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AACCCCAGTGCTGTGTATC -3'
(R):5'- TTTGTGGGGCCCTGACAATG -3'

Sequencing Primer
(F):5'- AGTGCTGTGTATCTTCCTTCAG -3'
(R):5'- GCCCTGACAATGGAGACG -3'
Posted On 2015-06-20