Incidental Mutation 'R6454:Tsc22d2'
ID519455
Institutional Source Beutler Lab
Gene Symbol Tsc22d2
Ensembl Gene ENSMUSG00000027806
Gene NameTSC22 domain family, member 2
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.550) question?
Stock #R6454 (G1)
Quality Score105.008
Status Validated
Chromosome3
Chromosomal Location58414715-58466783 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 58415840 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 51 (V51D)
Ref Sequence ENSEMBL: ENSMUSP00000143364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099090] [ENSMUST00000199164]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099090
AA Change: V51D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096688
Gene: ENSMUSG00000027806
AA Change: V51D

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 possibly damaging
Transcript: ENSMUST00000199164
AA Change: V51D

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143364
Gene: ENSMUSG00000027806
AA Change: V51D

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.1%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik T G 6: 96,165,628 H145P possibly damaging Het
Arid2 C T 15: 96,372,413 T1469I probably benign Het
Atp12a A G 14: 56,370,833 T93A probably benign Het
Atp8a2 A T 14: 60,008,499 probably null Het
Casz1 A T 4: 148,951,495 I1405F probably damaging Het
Chrnb3 T C 8: 27,393,375 S100P probably damaging Het
Creld2 T A 15: 88,823,071 C197* probably null Het
Csmd1 A T 8: 15,921,150 F3055Y probably damaging Het
Ddx58 T A 4: 40,220,456 I476F probably damaging Het
Dnah11 T A 12: 117,916,855 E3843D probably benign Het
Dnah14 T C 1: 181,783,705 S3799P probably damaging Het
Dpp9 A T 17: 56,206,808 L102Q probably damaging Het
Eipr1 T G 12: 28,864,762 I305S probably damaging Het
Enpp5 G A 17: 44,085,264 G356S probably damaging Het
Faf1 G T 4: 109,842,334 A359S probably benign Het
Fam13b A G 18: 34,457,662 probably null Het
Fam46b A G 4: 133,480,409 D37G probably damaging Het
Gm14496 A T 2: 181,996,222 N363I probably damaging Het
Gm15922 C G 7: 3,737,320 A301P probably damaging Het
Gm5346 G T 8: 43,626,808 N126K probably damaging Het
Grm8 T G 6: 27,363,776 H580P possibly damaging Het
Itih5 T C 2: 10,240,668 F523L probably benign Het
Klhl1 A T 14: 96,280,091 M383K possibly damaging Het
Lgi4 A T 7: 31,060,132 T38S probably benign Het
Myh13 T A 11: 67,350,365 M856K probably benign Het
Myo7a C T 7: 98,073,167 V1184M probably benign Het
Nlrp9c G A 7: 26,385,774 R127C possibly damaging Het
Notch2 T C 3: 98,137,406 I1548T possibly damaging Het
Nphs2 T A 1: 156,318,767 H179Q probably damaging Het
Nup153 T C 13: 46,709,660 probably null Het
Odf2l C A 3: 145,153,420 Q517K possibly damaging Het
Olfr1013 A G 2: 85,770,373 K191E probably benign Het
Olfr1254 T C 2: 89,789,178 Y58C probably damaging Het
Olfr1448 T A 19: 12,920,031 N93Y probably benign Het
Olfr149 A G 9: 39,701,834 *312Q probably null Het
Omd A T 13: 49,589,869 I132F probably damaging Het
Otog A G 7: 46,305,817 N544D probably damaging Het
Ovol3 A G 7: 30,235,375 Y29H probably damaging Het
Papolb T C 5: 142,529,598 K97E possibly damaging Het
Pcdhb19 G T 18: 37,499,269 V706L probably benign Het
Plekhm1 G A 11: 103,377,382 R588C probably damaging Het
Pnpla6 G T 8: 3,537,986 V1062L probably damaging Het
Ppp1r9a T A 6: 4,905,827 F127L probably damaging Het
Rnf5 A C 17: 34,602,309 C47W probably damaging Het
Sbno1 A T 5: 124,400,847 M517K probably damaging Het
Slc44a5 C T 3: 154,243,159 T188M probably benign Het
Smco1 A G 16: 32,273,223 T40A possibly damaging Het
Speer4f2 A T 5: 17,374,433 I77F probably damaging Het
Spem2 A G 11: 69,817,428 L237P probably damaging Het
Spg7 A G 8: 123,079,423 K291E possibly damaging Het
Tiam2 A T 17: 3,438,663 T749S probably benign Het
Tln1 T C 4: 43,533,866 K2291E probably damaging Het
Tm6sf1 A G 7: 81,876,053 M294V probably damaging Het
Tmem35b T C 4: 127,129,018 *138R probably null Het
Tpst1 A G 5: 130,102,051 K121E possibly damaging Het
Tshr C A 12: 91,538,549 Q754K probably benign Het
Ttc38 T A 15: 85,838,822 M157K probably damaging Het
Ube2g2 T G 10: 77,634,746 probably benign Het
Ugt2b37 T G 5: 87,240,977 D459A probably damaging Het
Usp35 A T 7: 97,311,560 N886K probably damaging Het
Usp35 A T 7: 97,311,644 Y858* probably null Het
Wdr33 T C 18: 31,829,975 V125A possibly damaging Het
Xpnpep1 G A 19: 52,997,879 T506I possibly damaging Het
Other mutations in Tsc22d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Tsc22d2 APN 3 58417415 unclassified probably benign
IGL01389:Tsc22d2 APN 3 58416238 missense probably damaging 0.98
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
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
Z1176:Tsc22d2 UTSW 3 58417024 missense unknown
Predicted Primers PCR Primer
(F):5'- CGAACTCGGACTTTGTCTTTG -3'
(R):5'- AGATGGAGTTGCACTACTCG -3'

Sequencing Primer
(F):5'- ACTTTGTCTTTGGGGGCCC -3'
(R):5'- AGTTGCACTACTCGGCCCAG -3'
Posted On2018-05-24