Incidental Mutation 'IGL02138:Tor4a'
ID281397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tor4a
Ensembl Gene ENSMUSG00000059555
Gene Nametorsin family 4, member A
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.290) question?
Stock #IGL02138
Quality Score
Status
Chromosome2
Chromosomal Location25192966-25196886 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 25194798 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 364 (D364E)
Ref Sequence ENSEMBL: ENSMUSP00000080548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059849] [ENSMUST00000081869] [ENSMUST00000137920] [ENSMUST00000142857]
Predicted Effect probably benign
Transcript: ENSMUST00000059849
SMART Domains Protein: ENSMUSP00000057731
Gene: ENSMUSG00000013465

DomainStartEndE-ValueType
Pfam:COBRA1 107 578 3.5e-248 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081869
AA Change: D364E

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000080548
Gene: ENSMUSG00000059555
AA Change: D364E

DomainStartEndE-ValueType
low complexity region 21 40 N/A INTRINSIC
low complexity region 48 62 N/A INTRINSIC
low complexity region 81 93 N/A INTRINSIC
AAA 181 317 3.74e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128876
Predicted Effect probably benign
Transcript: ENSMUST00000137920
Predicted Effect probably benign
Transcript: ENSMUST00000142857
SMART Domains Protein: ENSMUSP00000142048
Gene: ENSMUSG00000059555

DomainStartEndE-ValueType
Pfam:Torsin 1 86 4.2e-9 PFAM
Pfam:AAA_22 12 112 6.7e-8 PFAM
Pfam:AAA_17 18 111 2.4e-7 PFAM
Pfam:AAA 19 110 3.1e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205741
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T G 14: 32,662,715 D431A possibly damaging Het
Adgrb1 T C 15: 74,529,782 M209T probably damaging Het
Ano8 T C 8: 71,484,842 H86R probably damaging Het
Camk1d G T 2: 5,445,084 Y87* probably null Het
Capza3 A G 6: 140,042,146 D157G probably benign Het
Ccdc36 G A 9: 108,406,621 T208I probably benign Het
Ckmt2 A T 13: 91,861,828 D124E probably benign Het
Col14a1 C A 15: 55,420,835 Q831K unknown Het
Copb2 C T 9: 98,587,552 P829S probably benign Het
Dlg5 A G 14: 24,158,351 V929A probably benign Het
Dolk A G 2: 30,285,979 V18A probably benign Het
Ecm2 G T 13: 49,522,828 L340F probably damaging Het
Hacl1 A G 14: 31,630,983 L149P probably benign Het
Higd2a A T 13: 54,590,422 probably null Het
Hspa12a A T 19: 58,828,298 S28R probably benign Het
Igkv5-37 A G 6: 69,963,451 Y70H probably damaging Het
Kif11 T C 19: 37,384,609 V92A probably damaging Het
Kif26a T C 12: 112,174,850 S696P probably damaging Het
Kng1 A T 16: 23,067,808 N168Y probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lepr A G 4: 101,768,067 D473G probably damaging Het
Lipt1 G A 1: 37,875,786 E308K possibly damaging Het
Luc7l3 A T 11: 94,303,966 F76Y probably benign Het
Mapk1 A G 16: 17,023,452 I163V probably benign Het
Matn3 A G 12: 8,967,638 E430G possibly damaging Het
Med13 A T 11: 86,286,765 S1502T probably damaging Het
Mlf1 A T 3: 67,399,713 H237L probably benign Het
Mss51 A C 14: 20,484,855 Y282* probably null Het
Ncoa3 A G 2: 166,055,262 T658A probably benign Het
Olfr406 A T 11: 74,269,718 M110L probably benign Het
Olfr867 A T 9: 20,054,900 S188T probably benign Het
Phrf1 T A 7: 141,259,283 probably benign Het
Ppme1 C T 7: 100,333,932 M335I probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sntg2 T A 12: 30,307,231 probably null Het
Spryd3 T C 15: 102,118,919 probably benign Het
Srpx A G X: 10,067,423 probably null Het
St8sia1 G T 6: 142,963,778 probably benign Het
Stab1 A G 14: 31,143,513 probably null Het
Sycp2 T A 2: 178,401,990 K108* probably null Het
Sycp2 A T 2: 178,358,254 S976R probably benign Het
Tagap1 T C 17: 6,956,086 T404A probably damaging Het
Tg C T 15: 66,717,233 T21I probably benign Het
Tlr4 A T 4: 66,840,965 Y665F probably damaging Het
Tmc8 T G 11: 117,791,255 S525A probably benign Het
Trim44 T C 2: 102,380,908 I236V probably benign Het
Ube2o A G 11: 116,543,400 probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Xirp2 A T 2: 67,516,956 R3180S probably benign Het
Zfp335 A G 2: 164,893,804 C1077R probably damaging Het
Other mutations in Tor4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02813:Tor4a APN 2 25194749 nonsense probably null
R1486:Tor4a UTSW 2 25194679 missense possibly damaging 0.47
R1916:Tor4a UTSW 2 25195402 missense possibly damaging 0.83
R2958:Tor4a UTSW 2 25194968 missense possibly damaging 0.93
R5237:Tor4a UTSW 2 25194964 missense probably damaging 0.97
R5356:Tor4a UTSW 2 25195906 intron probably null
R5694:Tor4a UTSW 2 25194920 missense probably benign
R5874:Tor4a UTSW 2 25194835 missense probably damaging 1.00
R6314:Tor4a UTSW 2 25194782 missense possibly damaging 0.86
R6407:Tor4a UTSW 2 25194940 missense probably benign
R7056:Tor4a UTSW 2 25194841 missense probably benign
R7498:Tor4a UTSW 2 25195792 missense probably benign 0.22
R7590:Tor4a UTSW 2 25195798 missense possibly damaging 0.85
Posted On2015-04-16