Incidental Mutation 'R0421:Tsc22d2'
ID 37041
Institutional Source Beutler Lab
Gene Symbol Tsc22d2
Ensembl Gene ENSMUSG00000027806
Gene Name TSC22 domain family, member 2
Synonyms 5530402M19Rik, 1810043J12Rik
MMRRC Submission 038623-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R0421 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 58322136-58374204 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 58324749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000099090] [ENSMUST00000199164]
AlphaFold E9Q7M2
Predicted Effect unknown
Transcript: ENSMUST00000099090
AA Change: G547D
SMART Domains Protein: ENSMUSP00000096688
Gene: ENSMUSG00000027806
AA Change: G547D

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 unknown
Transcript: ENSMUST00000199164
AA Change: G547D
SMART Domains Protein: ENSMUSP00000143364
Gene: ENSMUSG00000027806
AA Change: G547D

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
Meta Mutation Damage Score 0.1735 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 97% (67/69)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 G A 2: 22,850,839 (GRCm39) T195I probably damaging Het
Afap1l1 T C 18: 61,884,945 (GRCm39) N180S probably damaging Het
Arsg A G 11: 109,418,592 (GRCm39) Y196C probably damaging Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atp2b2 C A 6: 113,790,849 (GRCm39) R185L probably damaging Het
Ccr9 A T 9: 123,608,671 (GRCm39) M118L probably benign Het
Cdh12 A T 15: 21,480,310 (GRCm39) probably null Het
Cdk13 T C 13: 17,937,755 (GRCm39) S763G probably damaging Het
Cenpk C A 13: 104,378,911 (GRCm39) N177K probably benign Het
Cfap43 T G 19: 47,824,014 (GRCm39) N119T probably benign Het
Chrna6 T C 8: 27,898,415 (GRCm39) E101G probably null Het
Clasp2 G A 9: 113,683,370 (GRCm39) R400H probably benign Het
Col6a6 T C 9: 105,661,405 (GRCm39) M235V probably benign Het
Ddx49 A T 8: 70,748,282 (GRCm39) L291Q probably damaging Het
Dhrs7 A T 12: 72,699,860 (GRCm39) probably benign Het
Dnah5 A T 15: 28,229,687 (GRCm39) K107M possibly damaging Het
Dsg2 C T 18: 20,712,448 (GRCm39) R151C probably damaging Het
Dsn1 T C 2: 156,847,789 (GRCm39) T2A possibly damaging Het
Edem3 A G 1: 151,668,189 (GRCm39) probably benign Het
Eif3c T C 7: 126,162,884 (GRCm39) N133S possibly damaging Het
F10 A G 8: 13,095,097 (GRCm39) K85E probably benign Het
Fbn2 T A 18: 58,160,876 (GRCm39) probably benign Het
Gtpbp10 A T 5: 5,607,290 (GRCm39) H50Q probably benign Het
Hephl1 A G 9: 14,970,456 (GRCm39) F1013L probably benign Het
Hps3 C A 3: 20,083,480 (GRCm39) V238F probably benign Het
Kcna10 A C 3: 107,101,820 (GRCm39) K150N probably damaging Het
Kirrel1 C T 3: 86,990,914 (GRCm39) G636D probably damaging Het
Kndc1 G A 7: 139,488,912 (GRCm39) R189H probably damaging Het
Knop1 C T 7: 118,454,852 (GRCm39) E50K possibly damaging Het
Kplce T C 3: 92,776,291 (GRCm39) T131A probably damaging Het
Kpna7 T A 5: 144,926,551 (GRCm39) H467L possibly damaging Het
Lcn4 T C 2: 26,558,661 (GRCm39) N142D possibly damaging Het
Map3k3 T C 11: 106,039,741 (GRCm39) probably benign Het
Mdn1 A G 4: 32,684,707 (GRCm39) T806A probably benign Het
Nbeal1 T A 1: 60,307,598 (GRCm39) N1703K probably benign Het
Neurl4 T C 11: 69,799,360 (GRCm39) V914A probably damaging Het
Niban1 T A 1: 151,584,833 (GRCm39) probably benign Het
Nop56 T C 2: 130,118,692 (GRCm39) S275P possibly damaging Het
Or1j20 A G 2: 36,759,653 (GRCm39) E25G possibly damaging Het
Or52ac1 A G 7: 104,245,929 (GRCm39) V153A probably benign Het
Or7e174 A G 9: 20,012,771 (GRCm39) K239E probably damaging Het
Otof A C 5: 30,528,912 (GRCm39) I1827S possibly damaging Het
Pappa2 A T 1: 158,675,650 (GRCm39) I1032N probably damaging Het
Pcdh7 A G 5: 57,877,402 (GRCm39) E319G probably damaging Het
Pcdhb11 T A 18: 37,555,533 (GRCm39) S288T probably benign Het
Phip A T 9: 82,808,510 (GRCm39) D488E probably damaging Het
Pla2g7 A T 17: 43,922,303 (GRCm39) H394L probably damaging Het
Plk3 A G 4: 116,990,641 (GRCm39) V69A probably damaging Het
Prob1 C A 18: 35,786,083 (GRCm39) A724S possibly damaging Het
Prune2 T C 19: 17,100,675 (GRCm39) F2060L probably benign Het
Rgl3 G A 9: 21,887,328 (GRCm39) R498C probably benign Het
Rnf213 A C 11: 119,338,083 (GRCm39) N3362H probably damaging Het
Sbds A G 5: 130,282,774 (GRCm39) probably benign Het
Scn9a T C 2: 66,373,621 (GRCm39) S453G probably benign Het
Sh3rf3 T C 10: 58,819,897 (GRCm39) L236P probably damaging Het
Skint1 A G 4: 111,876,211 (GRCm39) N44S possibly damaging Het
Slc5a1 T A 5: 33,291,996 (GRCm39) I141N probably damaging Het
Tlcd3b G A 7: 126,424,187 (GRCm39) V44M probably damaging Het
Trank1 T A 9: 111,220,907 (GRCm39) I2548N probably damaging Het
Unc13c T A 9: 73,840,492 (GRCm39) I120F possibly damaging Het
Vmn2r11 T G 5: 109,207,294 (GRCm39) I9L probably benign Het
Vmn2r58 T G 7: 41,514,628 (GRCm39) N114H probably benign Het
Vps53 A G 11: 75,973,496 (GRCm39) L166P probably damaging Het
Zfp119a T A 17: 56,172,248 (GRCm39) K532* probably null Het
Zfp472 A G 17: 33,194,897 (GRCm39) T11A possibly damaging Het
Zfp512b T A 2: 181,230,051 (GRCm39) K87* probably null Het
Zfp518b G A 5: 38,831,918 (GRCm39) P29L probably damaging Het
Zfp599 A G 9: 22,161,843 (GRCm39) probably benign Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Tsc22d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Tsc22d2 APN 3 58,324,836 (GRCm39) unclassified probably benign
IGL01389:Tsc22d2 APN 3 58,323,659 (GRCm39) missense probably damaging 0.98
IGL01407:Tsc22d2 APN 3 58,323,924 (GRCm39) missense probably damaging 0.99
IGL02193:Tsc22d2 APN 3 58,367,628 (GRCm39) utr 3 prime probably benign
IGL02641:Tsc22d2 APN 3 58,323,576 (GRCm39) missense probably damaging 1.00
IGL02956:Tsc22d2 APN 3 58,324,967 (GRCm39) missense unknown
R0141:Tsc22d2 UTSW 3 58,324,577 (GRCm39) unclassified probably benign
R1743:Tsc22d2 UTSW 3 58,324,960 (GRCm39) frame shift probably null
R2214:Tsc22d2 UTSW 3 58,323,627 (GRCm39) missense probably damaging 1.00
R5155:Tsc22d2 UTSW 3 58,324,737 (GRCm39) unclassified probably benign
R5242:Tsc22d2 UTSW 3 58,323,360 (GRCm39) missense possibly damaging 0.86
R5616:Tsc22d2 UTSW 3 58,324,583 (GRCm39) unclassified probably benign
R6119:Tsc22d2 UTSW 3 58,367,674 (GRCm39) utr 3 prime probably benign
R6454:Tsc22d2 UTSW 3 58,323,261 (GRCm39) missense possibly damaging 0.92
R6855:Tsc22d2 UTSW 3 58,324,235 (GRCm39) missense probably damaging 0.99
R6885:Tsc22d2 UTSW 3 58,323,629 (GRCm39) missense probably damaging 1.00
R7148:Tsc22d2 UTSW 3 58,324,429 (GRCm39) nonsense probably null
R7243:Tsc22d2 UTSW 3 58,323,884 (GRCm39) missense unknown
R8078:Tsc22d2 UTSW 3 58,323,453 (GRCm39) missense probably benign 0.04
R8309:Tsc22d2 UTSW 3 58,324,544 (GRCm39) missense unknown
R8789:Tsc22d2 UTSW 3 58,367,438 (GRCm39) nonsense probably null
R9036:Tsc22d2 UTSW 3 58,323,497 (GRCm39) missense probably benign 0.19
R9408:Tsc22d2 UTSW 3 58,367,453 (GRCm39) missense unknown
Z1176:Tsc22d2 UTSW 3 58,324,445 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTTGTTGCCGATGCAGCCATCC -3'
(R):5'- TTGTCAGGGCATCTGCAACTGGAG -3'

Sequencing Primer
(F):5'- AGCCCTTGTCTACCAGCG -3'
(R):5'- AGGCTTCACAACAGGCTTAC -3'
Posted On 2013-05-09