Incidental Mutation 'R3856:Atxn7l1'
ID 276175
Institutional Source Beutler Lab
Gene Symbol Atxn7l1
Ensembl Gene ENSMUSG00000020564
Gene Name ataxin 7-like 1
Synonyms 2810423G08Rik, Atxn7l4
MMRRC Submission 040902-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R3856 (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 33417599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 587 (T587A)
Ref Sequence ENSEMBL: ENSMUSP00000122982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090597] [ENSMUST00000125192] [ENSMUST00000146040] [ENSMUST00000154742]
AlphaFold Q9CZ05
Predicted Effect probably damaging
Transcript: ENSMUST00000090597
AA Change: T587A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088085
Gene: ENSMUSG00000020564
AA Change: T587A

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: T683A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118777
Gene: ENSMUSG00000020564
AA Change: T683A

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: T785A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122156
Gene: ENSMUSG00000020564
AA Change: T785A

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: T587A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122982
Gene: ENSMUSG00000020564
AA Change: T587A

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 0.0748 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.7%
  • 20x: 92.4%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,292,882 (GRCm39) S469P possibly damaging Het
Adgrf5 A T 17: 43,757,927 (GRCm39) N787I possibly damaging Het
Ank2 T C 3: 126,723,493 (GRCm39) T945A probably benign Het
Aox4 T A 1: 58,293,093 (GRCm39) I863N probably damaging Het
Ap3d1 A G 10: 80,548,019 (GRCm39) I891T probably benign Het
Apex1 A G 14: 51,163,714 (GRCm39) T109A probably benign Het
Arhgef1 G A 7: 24,618,697 (GRCm39) G107S probably damaging Het
Atxn7l3 T C 11: 102,184,729 (GRCm39) D128G probably damaging Het
Cacna1h T C 17: 25,611,427 (GRCm39) Y457C probably damaging Het
Ccdc60 A C 5: 116,310,514 (GRCm39) C183G probably damaging Het
Cep131 G A 11: 119,958,011 (GRCm39) R772* probably null Het
Cnst C T 1: 179,407,279 (GRCm39) P109S probably benign Het
Crtc2 G T 3: 90,169,877 (GRCm39) L509F probably damaging Het
Ctsr A T 13: 61,309,750 (GRCm39) I153N possibly damaging Het
Dffa A T 4: 149,188,708 (GRCm39) M1L possibly damaging Het
Dnajc16 G A 4: 141,490,964 (GRCm39) R729* probably null Het
Eef2k T A 7: 120,498,594 (GRCm39) C91* probably null Het
Eml5 T C 12: 98,782,283 (GRCm39) D1336G probably damaging Het
F12 G A 13: 55,569,035 (GRCm39) probably null Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fbxo40 A T 16: 36,789,445 (GRCm39) L555Q probably damaging Het
Frmpd1 T C 4: 45,283,698 (GRCm39) S840P probably damaging Het
Gadd45a C T 6: 67,013,989 (GRCm39) probably null Het
Galnt7 T C 8: 57,985,658 (GRCm39) probably benign Het
Gm5592 G A 7: 40,807,259 (GRCm39) probably benign Het
Gpr171 T C 3: 59,005,506 (GRCm39) T90A probably damaging Het
Gpr82 A T X: 13,531,577 (GRCm39) T42S probably benign Het
H2-M10.6 T A 17: 37,123,396 (GRCm39) I30N probably benign Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Hspa4l C A 3: 40,739,821 (GRCm39) H698Q probably benign Het
Idi1 G T 13: 8,935,968 (GRCm39) A25S probably benign Het
Kdm4a C T 4: 118,010,428 (GRCm39) R605H probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Or52ae7 T A 7: 103,119,867 (GRCm39) V207E probably damaging Het
Pbp2 A G 6: 135,287,143 (GRCm39) L68P probably benign Het
Pcnx3 G T 19: 5,728,995 (GRCm39) T547K probably benign Het
Ppp1r12a T C 10: 108,089,362 (GRCm39) probably benign Het
Prmt9 G A 8: 78,294,894 (GRCm39) V413I probably benign Het
Pudp T C 18: 50,701,124 (GRCm39) N203S probably benign Het
Rnf213 T C 11: 119,371,765 (GRCm39) probably benign Het
Sall3 G A 18: 81,015,717 (GRCm39) T737M probably damaging Het
Scn2b A G 9: 45,036,759 (GRCm39) N89S possibly damaging Het
Sgsm1 A G 5: 113,411,125 (GRCm39) V580A probably benign Het
Slc13a4 C A 6: 35,248,539 (GRCm39) probably null Het
Slc4a4 A C 5: 89,380,698 (GRCm39) S1015R probably benign Het
Slc8a1 T C 17: 81,955,803 (GRCm39) T412A probably benign Het
Spag17 A T 3: 100,014,075 (GRCm39) D2116V probably damaging Het
Trim55 T C 3: 19,727,120 (GRCm39) F396L probably benign Het
Usp54 C A 14: 20,638,488 (GRCm39) M197I probably damaging Het
Vmn1r189 A T 13: 22,286,439 (GRCm39) F133I possibly damaging Het
Zfp735 T C 11: 73,602,282 (GRCm39) S409P probably benign 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
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
R4301:Atxn7l1 UTSW 12 33,417,237 (GRCm39) missense probably damaging 1.00
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'- AAAGACCTGTCCGCTCGTAG -3'
(R):5'- TCTGATTTGTCAAAGGAGAGGG -3'

Sequencing Primer
(F):5'- AAGAGGAAGCCGCAGTCCTC -3'
(R):5'- GGCAGAGAAGACACAGCGTTG -3'
Posted On 2015-04-06