Incidental Mutation 'R4193:Atxn7l3b'
ID 318427
Institutional Source Beutler Lab
Gene Symbol Atxn7l3b
Ensembl Gene ENSMUSG00000074748
Gene Name ataxin 7-like 3B
Synonyms ENSMUSG00000074747, 4921506J03Rik, 6230409E21Rik
MMRRC Submission 041024-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R4193 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 112761335-112764906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 112764610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 6 (L6F)
Ref Sequence ENSEMBL: ENSMUSP00000096882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099276]
AlphaFold Q3UD01
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082773
Predicted Effect probably damaging
Transcript: ENSMUST00000099276
AA Change: L6F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165438
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180464
SMART Domains Protein: ENSMUSP00000137774
Gene: ENSMUSG00000097185

DomainStartEndE-ValueType
low complexity region 37 69 N/A INTRINSIC
low complexity region 135 148 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G T 14: 35,818,536 (GRCm39) R178L possibly damaging Het
Abcb1a G A 5: 8,765,068 (GRCm39) probably null Het
Acap3 A G 4: 155,986,234 (GRCm39) T285A probably benign Het
Adam20 A T 8: 41,248,352 (GRCm39) N154I probably damaging Het
Adamts8 A T 9: 30,870,604 (GRCm39) D693V probably damaging Het
Ak9 A G 10: 41,211,941 (GRCm39) H226R probably benign Het
Atp6v1b1 A G 6: 83,720,085 (GRCm39) S7G probably benign Het
Bco1 C T 8: 117,840,208 (GRCm39) T242M probably damaging Het
Btla A G 16: 45,070,845 (GRCm39) N268S probably benign Het
Capn9 A G 8: 125,327,225 (GRCm39) S292G probably null Het
Cdhr18 C T 14: 13,914,416 (GRCm38) V9I probably benign Het
Col7a1 G A 9: 108,785,740 (GRCm39) S403N unknown Het
Ctps1 A G 4: 120,405,335 (GRCm39) V369A probably damaging Het
Ddx19b A T 8: 111,737,980 (GRCm39) L256Q probably damaging Het
Dnah7a T C 1: 53,486,493 (GRCm39) K3356R probably benign Het
Dpf2 G A 19: 5,957,044 (GRCm39) R60* probably null Het
Eif3h A T 15: 51,662,695 (GRCm39) V117E probably damaging Het
Fam234a A T 17: 26,432,834 (GRCm39) L467Q probably damaging Het
Fez1 T A 9: 36,755,023 (GRCm39) S7R probably damaging Het
Fh1 T A 1: 175,442,407 (GRCm39) M148L possibly damaging Het
Gabra2 G A 5: 71,165,341 (GRCm39) P210S probably benign Het
Gfm1 T G 3: 67,339,053 (GRCm39) I52S probably damaging Het
Gm6729 A T 10: 86,376,483 (GRCm39) noncoding transcript Het
Gpr152 T G 19: 4,192,906 (GRCm39) L149R probably damaging Het
H2bc27 T A 11: 58,840,067 (GRCm39) L101Q probably damaging Het
Ifnar2 A T 16: 91,201,232 (GRCm39) D491V probably damaging Het
Igkv14-126 T C 6: 67,873,367 (GRCm39) S32P possibly damaging Het
Il1rl2 A G 1: 40,404,208 (GRCm39) E443G probably damaging Het
Impg2 A G 16: 56,088,774 (GRCm39) D1100G probably benign Het
Itga2 G A 13: 115,023,185 (GRCm39) R56* probably null Het
Itga2b A G 11: 102,360,511 (GRCm39) S10P probably benign Het
Jmjd1c C T 10: 66,932,460 (GRCm39) probably benign Het
Kdm7a T G 6: 39,146,030 (GRCm39) K299T probably damaging Het
Large2 T A 2: 92,195,704 (GRCm39) D632V probably damaging Het
Lrp2 C T 2: 69,297,487 (GRCm39) C3158Y probably damaging Het
Malt1 T A 18: 65,580,746 (GRCm39) D213E probably benign Het
Nkapl T C 13: 21,651,512 (GRCm39) Q367R probably benign Het
Nwd2 T C 5: 63,964,808 (GRCm39) L1464P probably damaging Het
Or1e25 C G 11: 73,494,243 (GRCm39) T279R probably damaging Het
Or2y1 A C 11: 49,386,134 (GRCm39) Y258S probably damaging Het
Or7a40 A T 16: 16,491,511 (GRCm39) D111E possibly damaging Het
Or8u10 T A 2: 85,916,044 (GRCm39) I26F probably benign Het
Or9g20 C T 2: 85,630,362 (GRCm39) C84Y probably benign Het
P2ry2 A G 7: 100,647,657 (GRCm39) V216A probably benign Het
Pcdhb1 A G 18: 37,400,199 (GRCm39) K717E probably damaging Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Pcsk6 T C 7: 65,675,056 (GRCm39) S476P probably damaging Het
Phactr3 T A 2: 177,924,945 (GRCm39) H293Q probably damaging Het
Pias1 T C 9: 62,859,286 (GRCm39) D74G possibly damaging Het
Plekhg6 T C 6: 125,350,081 (GRCm39) T286A probably benign Het
Pramel23 A T 4: 143,424,903 (GRCm39) L180Q probably damaging Het
Prkag2 A C 5: 25,083,758 (GRCm39) M75R probably damaging Het
Prl7c1 T A 13: 27,960,261 (GRCm39) M94L probably benign Het
Prodh C T 16: 17,891,504 (GRCm39) V480I probably benign Het
Ptprn2 A G 12: 116,864,628 (GRCm39) I548V probably benign Het
Ptprr T C 10: 116,088,769 (GRCm39) W307R probably damaging Het
Rab29 T C 1: 131,797,700 (GRCm39) S52P possibly damaging Het
Ralgapa2 A G 2: 146,184,493 (GRCm39) F1505L probably damaging Het
Scn8a C T 15: 100,869,484 (GRCm39) A209V probably damaging Het
Senp2 G T 16: 21,865,417 (GRCm39) W580L probably damaging Het
Septin4 A T 11: 87,474,142 (GRCm39) probably null Het
Slc17a5 C A 9: 78,466,388 (GRCm39) V269L possibly damaging Het
Slc2a9 T C 5: 38,556,049 (GRCm39) N299S probably damaging Het
Slc41a2 T A 10: 83,137,085 (GRCm39) H274L probably damaging Het
Suco A T 1: 161,691,528 (GRCm39) D43E probably benign Het
Tacr2 T A 10: 62,088,958 (GRCm39) I121N probably damaging Het
Tanc2 G A 11: 105,804,888 (GRCm39) probably benign Het
Tbl1xr1 T C 3: 22,254,522 (GRCm39) F322L possibly damaging Het
Tdrd1 T A 19: 56,839,773 (GRCm39) L611* probably null Het
Tgfbr2 T C 9: 115,939,009 (GRCm39) T298A probably damaging Het
Tmprss12 T C 15: 100,187,185 (GRCm39) V217A probably damaging Het
Ttbk1 A T 17: 46,790,173 (GRCm39) C91S probably damaging Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Vmn1r71 A T 7: 10,482,175 (GRCm39) I105K possibly damaging Het
Vmn2r57 A G 7: 41,077,663 (GRCm39) F168L probably benign Het
Zfp945 C T 17: 23,070,144 (GRCm39) probably benign Het
Other mutations in Atxn7l3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03284:Atxn7l3b APN 10 112,764,431 (GRCm39) missense probably benign 0.20
R0189:Atxn7l3b UTSW 10 112,764,485 (GRCm39) missense possibly damaging 0.89
R1902:Atxn7l3b UTSW 10 112,764,578 (GRCm39) missense probably benign 0.36
R4956:Atxn7l3b UTSW 10 112,764,501 (GRCm39) missense probably damaging 0.97
R4989:Atxn7l3b UTSW 10 112,764,649 (GRCm39) utr 5 prime probably benign
R8344:Atxn7l3b UTSW 10 112,764,567 (GRCm39) missense possibly damaging 0.92
Z1177:Atxn7l3b UTSW 10 112,764,384 (GRCm39) missense probably damaging 1.00
Z1177:Atxn7l3b UTSW 10 112,764,359 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GTGACTACTGGAATTCCGGAG -3'
(R):5'- AACTTGGGTGATCGTCGCAG -3'

Sequencing Primer
(F):5'- AGGTGAACGCTGCAGCTC -3'
(R):5'- TGATCGTCGCAGCCGAG -3'
Posted On 2015-06-10