Incidental Mutation 'IGL01389:Tsc22d2'
ID79142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsc22d2
Ensembl Gene ENSMUSG00000027806
Gene NameTSC22 domain family, member 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.617) question?
Stock #IGL01389
Quality Score
Status
Chromosome3
Chromosomal Location58414715-58466783 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58416238 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 184 (T184A)
Ref Sequence ENSEMBL: ENSMUSP00000096688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099090] [ENSMUST00000199164]
Predicted Effect probably damaging
Transcript: ENSMUST00000099090
AA Change: T184A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096688
Gene: ENSMUSG00000027806
AA Change: T184A

DomainStartEndE-ValueType
low complexity region 95 145 N/A INTRINSIC
low complexity region 204 223 N/A INTRINSIC
low complexity region 253 286 N/A INTRINSIC
low complexity region 300 322 N/A INTRINSIC
low complexity region 377 400 N/A INTRINSIC
low complexity region 426 439 N/A INTRINSIC
low complexity region 441 457 N/A INTRINSIC
low complexity region 459 521 N/A INTRINSIC
low complexity region 531 541 N/A INTRINSIC
Pfam:TSC22 683 739 4.1e-29 PFAM
low complexity region 746 764 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196049
Predicted Effect probably benign
Transcript: ENSMUST00000199164
AA Change: T184A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000143364
Gene: ENSMUSG00000027806
AA Change: T184A

DomainStartEndE-ValueType
low complexity region 95 145 N/A INTRINSIC
low complexity region 204 223 N/A INTRINSIC
low complexity region 253 286 N/A INTRINSIC
low complexity region 300 322 N/A INTRINSIC
low complexity region 377 400 N/A INTRINSIC
low complexity region 426 439 N/A INTRINSIC
low complexity region 441 457 N/A INTRINSIC
low complexity region 459 521 N/A INTRINSIC
low complexity region 531 541 N/A INTRINSIC
Pfam:TSC22 659 718 1.2e-28 PFAM
low complexity region 722 740 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199784
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc163 T C 4: 116,711,306 probably benign Het
Ceacam5 T G 7: 17,747,375 V349G probably damaging Het
Ces2e T A 8: 104,929,565 D169E probably benign Het
Cfh G T 1: 140,154,639 T150K probably benign Het
Chrd A G 16: 20,741,225 M859V possibly damaging Het
Clca2 C T 3: 145,077,868 probably null Het
Crocc T C 4: 141,022,112 E1536G probably damaging Het
Dhx57 A G 17: 80,281,223 V67A probably benign Het
Dock11 T C X: 35,993,048 V576A probably benign Het
Ighv1-85 A G 12: 116,000,051 S110P probably damaging Het
Lyg1 G A 1: 37,949,930 P70S probably damaging Het
Numbl T G 7: 27,281,047 F485V possibly damaging Het
Olfr1269 A T 2: 90,119,068 C177S probably damaging Het
Pclo A G 5: 14,714,521 E1051G probably damaging Het
Pdzd2 T C 15: 12,374,626 S1808G possibly damaging Het
Rad51b T A 12: 79,302,553 H54Q probably benign Het
Rbbp7 T C X: 162,769,943 probably benign Het
Rhbdl2 G T 4: 123,829,657 V285L probably benign Het
Slc22a16 T A 10: 40,585,135 M311K probably damaging Het
Slc22a21 A G 11: 53,979,581 S93P probably damaging Het
Stt3b T C 9: 115,253,900 E488G probably benign Het
Tas2r108 A G 6: 40,493,932 H114R possibly damaging Het
Tcaim A G 9: 122,814,562 E109G possibly damaging Het
Vmn2r2 G T 3: 64,117,009 T717N probably damaging Het
Vps25 C T 11: 101,254,035 Q20* probably null Het
Xiap T C X: 42,094,552 F52L probably damaging Het
Other mutations in Tsc22d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Tsc22d2 APN 3 58417415 unclassified probably benign
IGL01407:Tsc22d2 APN 3 58416503 missense probably damaging 0.99
IGL02193:Tsc22d2 APN 3 58460207 utr 3 prime probably benign
IGL02641:Tsc22d2 APN 3 58416155 missense probably damaging 1.00
IGL02956:Tsc22d2 APN 3 58417546 missense unknown
R0141:Tsc22d2 UTSW 3 58417156 unclassified probably benign
R0421:Tsc22d2 UTSW 3 58417328 unclassified probably benign
R1743:Tsc22d2 UTSW 3 58417539 frame shift probably null
R2214:Tsc22d2 UTSW 3 58416206 missense probably damaging 1.00
R5155:Tsc22d2 UTSW 3 58417316 unclassified probably benign
R5242:Tsc22d2 UTSW 3 58415939 missense possibly damaging 0.86
R5616:Tsc22d2 UTSW 3 58417162 unclassified probably benign
R6119:Tsc22d2 UTSW 3 58460253 utr 3 prime probably benign
R6454:Tsc22d2 UTSW 3 58415840 missense possibly damaging 0.92
R6855:Tsc22d2 UTSW 3 58416814 missense probably damaging 0.99
R6885:Tsc22d2 UTSW 3 58416208 missense probably damaging 1.00
R7148:Tsc22d2 UTSW 3 58417008 nonsense probably null
R7243:Tsc22d2 UTSW 3 58416463 missense unknown
R8078:Tsc22d2 UTSW 3 58416032 missense probably benign 0.04
R8309:Tsc22d2 UTSW 3 58417123 missense unknown
R8789:Tsc22d2 UTSW 3 58460017 nonsense probably null
Z1176:Tsc22d2 UTSW 3 58417024 missense unknown
Posted On2013-11-05