Incidental Mutation 'R5694:Tor4a'
ID 443802
Institutional Source Beutler Lab
Gene Symbol Tor4a
Ensembl Gene ENSMUSG00000059555
Gene Name torsin family 4, member A
Synonyms A830007P12Rik
MMRRC Submission 043325-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.224) question?
Stock # R5694 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 25082978-25086898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25084932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 324 (T324A)
Ref Sequence ENSEMBL: ENSMUSP00000080548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059849] [ENSMUST00000081869] [ENSMUST00000137920] [ENSMUST00000142857]
AlphaFold Q8BH02
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: T324A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080548
Gene: ENSMUSG00000059555
AA Change: T324A

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,546,673 (GRCm39) I1353N probably damaging Het
Actr1a C A 19: 46,384,157 (GRCm39) probably benign Het
Adamts14 A T 10: 61,065,431 (GRCm39) M356K probably benign Het
Adamtsl2 A G 2: 26,971,736 (GRCm39) H7R probably benign Het
Angptl2 T C 2: 33,118,628 (GRCm39) V134A probably damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Astn2 T C 4: 65,868,375 (GRCm39) D488G probably damaging Het
Cat A T 2: 103,303,339 (GRCm39) V146E probably damaging Het
Dmxl1 T C 18: 50,027,324 (GRCm39) V2144A probably damaging Het
Efcab5 T G 11: 77,079,701 (GRCm39) D15A probably benign Het
Epha10 C T 4: 124,796,446 (GRCm39) A385V unknown Het
Erg C A 16: 95,161,890 (GRCm39) E388D probably benign Het
Fbxo10 T A 4: 45,035,970 (GRCm39) I931F probably damaging Het
Frem1 A G 4: 82,912,353 (GRCm39) L673P probably damaging Het
Gm4922 A C 10: 18,660,035 (GRCm39) I229S possibly damaging Het
Gnptab T A 10: 88,250,348 (GRCm39) D153E probably benign Het
Htr7 T C 19: 36,034,521 (GRCm39) M45V probably benign Het
Hycc1 C A 5: 24,196,794 (GRCm39) L31F probably damaging Het
Igkv4-51 C T 6: 69,658,911 (GRCm39) V5M probably damaging Het
Ints7 G A 1: 191,318,730 (GRCm39) E156K probably damaging Het
Map3k21 A G 8: 126,671,507 (GRCm39) T932A probably benign Het
Mapk1 T G 16: 16,836,333 (GRCm39) D160E probably benign Het
Mast4 A T 13: 102,910,701 (GRCm39) Y479* probably null Het
Meig1 T A 2: 3,412,999 (GRCm39) K7N probably damaging Het
Mthfd1l T A 10: 3,985,239 (GRCm39) D548E possibly damaging Het
Myo16 A G 8: 10,619,606 (GRCm39) R1386G probably benign Het
Nphs2 T C 1: 156,153,607 (GRCm39) S353P probably benign Het
Or12j4 T C 7: 140,046,644 (GRCm39) F177L probably benign Het
Or8b1 T A 9: 38,399,532 (GRCm39) I69K probably damaging Het
Pcdha9 G T 18: 37,131,425 (GRCm39) V165L probably benign Het
Pde3a T A 6: 141,196,228 (GRCm39) S305T possibly damaging Het
Phf14 C A 6: 11,990,124 (GRCm39) L718I possibly damaging Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Rab44 T A 17: 29,364,940 (GRCm39) M645K unknown Het
Rab44 T C 17: 29,359,474 (GRCm39) L554P probably damaging Het
Rnf222 A G 11: 68,783,723 (GRCm39) T97A probably benign Het
Rnpepl1 T C 1: 92,846,663 (GRCm39) S522P probably benign Het
Serinc5 A G 13: 92,825,302 (GRCm39) I244V probably benign Het
Serpinb10 A T 1: 107,463,187 (GRCm39) probably null Het
Siglech T A 7: 55,418,404 (GRCm39) F124Y probably damaging Het
Smarcc2 A T 10: 128,319,996 (GRCm39) I790L probably benign Het
Sos2 C A 12: 69,637,689 (GRCm39) R1007S probably damaging Het
Stk4 C T 2: 163,942,484 (GRCm39) T372M possibly damaging Het
Tbc1d10c A T 19: 4,234,963 (GRCm39) L366H probably damaging Het
Trim12a C A 7: 103,956,450 (GRCm39) C30F probably damaging Het
Ttll3 G A 6: 113,376,669 (GRCm39) V350M probably damaging Het
Uggt1 A T 1: 36,218,737 (GRCm39) D63E probably damaging Het
Unc5b G A 10: 60,609,526 (GRCm39) T590I probably benign Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Wls A C 3: 159,545,624 (GRCm39) I16L probably benign Het
Zfp101 T C 17: 33,599,919 (GRCm39) I612M probably benign Het
Zfp677 C A 17: 21,618,021 (GRCm39) D359E probably damaging Het
Other mutations in Tor4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02138:Tor4a APN 2 25,084,810 (GRCm39) missense probably benign 0.18
IGL02813:Tor4a APN 2 25,084,761 (GRCm39) nonsense probably null
R1486:Tor4a UTSW 2 25,084,691 (GRCm39) missense possibly damaging 0.47
R1916:Tor4a UTSW 2 25,085,414 (GRCm39) missense possibly damaging 0.83
R2958:Tor4a UTSW 2 25,084,980 (GRCm39) missense possibly damaging 0.93
R5237:Tor4a UTSW 2 25,084,976 (GRCm39) missense probably damaging 0.97
R5356:Tor4a UTSW 2 25,085,918 (GRCm39) splice site probably null
R5874:Tor4a UTSW 2 25,084,847 (GRCm39) missense probably damaging 1.00
R6314:Tor4a UTSW 2 25,084,794 (GRCm39) missense possibly damaging 0.86
R6407:Tor4a UTSW 2 25,084,952 (GRCm39) missense probably benign
R7056:Tor4a UTSW 2 25,084,853 (GRCm39) missense probably benign
R7498:Tor4a UTSW 2 25,085,804 (GRCm39) missense probably benign 0.22
R7590:Tor4a UTSW 2 25,085,810 (GRCm39) missense possibly damaging 0.85
R8866:Tor4a UTSW 2 25,084,965 (GRCm39) missense probably benign 0.00
R8936:Tor4a UTSW 2 25,085,202 (GRCm39) missense probably damaging 0.99
R9206:Tor4a UTSW 2 25,084,975 (GRCm39) missense probably damaging 0.97
R9242:Tor4a UTSW 2 25,085,537 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CATGGTAGTAGCTGAGCTGC -3'
(R):5'- ATGAGGCTGAACTCTTGCCAC -3'

Sequencing Primer
(F):5'- TGCCAGATGTTCTGCCAG -3'
(R):5'- ACCTGCGCTGCTAGATGAG -3'
Posted On 2016-11-09