Incidental Mutation 'R2209:Tsc22d1'
ID 239284
Institutional Source Beutler Lab
Gene Symbol Tsc22d1
Ensembl Gene ENSMUSG00000022010
Gene Name TSC22 domain family, member 1
Synonyms Tgfb1i4, TSC-22, Egr5
MMRRC Submission 040211-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R2209 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 76652401-76745205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 76656180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 31 (N31K)
Ref Sequence ENSEMBL: ENSMUSP00000135789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048371] [ENSMUST00000110888] [ENSMUST00000175984] [ENSMUST00000176581] [ENSMUST00000176886] [ENSMUST00000177471]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000048371
AA Change: N886K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010
AA Change: N886K

DomainStartEndE-ValueType
low complexity region 32 47 N/A INTRINSIC
low complexity region 59 96 N/A INTRINSIC
low complexity region 121 132 N/A INTRINSIC
low complexity region 191 208 N/A INTRINSIC
low complexity region 216 241 N/A INTRINSIC
low complexity region 246 257 N/A INTRINSIC
low complexity region 266 289 N/A INTRINSIC
low complexity region 461 489 N/A INTRINSIC
low complexity region 497 521 N/A INTRINSIC
low complexity region 537 556 N/A INTRINSIC
low complexity region 619 637 N/A INTRINSIC
low complexity region 673 687 N/A INTRINSIC
low complexity region 702 724 N/A INTRINSIC
low complexity region 933 970 N/A INTRINSIC
Pfam:TSC22 992 1048 7e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110888
AA Change: N804K

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106513
Gene: ENSMUSG00000022010
AA Change: N804K

DomainStartEndE-ValueType
low complexity region 32 47 N/A INTRINSIC
low complexity region 59 96 N/A INTRINSIC
low complexity region 121 132 N/A INTRINSIC
low complexity region 191 208 N/A INTRINSIC
low complexity region 216 241 N/A INTRINSIC
low complexity region 246 257 N/A INTRINSIC
low complexity region 266 289 N/A INTRINSIC
low complexity region 379 407 N/A INTRINSIC
low complexity region 415 439 N/A INTRINSIC
low complexity region 455 474 N/A INTRINSIC
internal_repeat_1 502 536 8.43e-5 PROSPERO
low complexity region 537 555 N/A INTRINSIC
low complexity region 591 605 N/A INTRINSIC
low complexity region 620 642 N/A INTRINSIC
internal_repeat_1 644 676 8.43e-5 PROSPERO
low complexity region 851 888 N/A INTRINSIC
Pfam:TSC22 910 969 4.7e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000175984
AA Change: N30K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135307
Gene: ENSMUSG00000022010
AA Change: N30K

DomainStartEndE-ValueType
low complexity region 77 114 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176581
AA Change: N31K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135789
Gene: ENSMUSG00000022010
AA Change: N31K

DomainStartEndE-ValueType
low complexity region 78 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177333
Predicted Effect probably benign
Transcript: ENSMUST00000177471
SMART Domains Protein: ENSMUSP00000134792
Gene: ENSMUSG00000022010

DomainStartEndE-ValueType
low complexity region 18 55 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mcie homozygous for a null allele exhibit increased proliferation of bone marrow cells and decreased kidney and heart weights. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,884,227 (GRCm39) E330G possibly damaging Het
Apob A C 12: 8,057,752 (GRCm39) D2078A probably benign Het
Arhgap21 T A 2: 20,854,331 (GRCm39) Q1681L probably damaging Het
Arsb A G 13: 93,998,609 (GRCm39) T306A probably benign Het
Brpf3 G A 17: 29,047,394 (GRCm39) D1053N probably damaging Het
Cenpf A T 1: 189,384,795 (GRCm39) I2495N probably benign Het
Col12a1 T C 9: 79,599,634 (GRCm39) K840E possibly damaging Het
Cry1 A G 10: 84,982,619 (GRCm39) L269P probably damaging Het
Cyp21a1 C A 17: 35,021,701 (GRCm39) E289* probably null Het
Dcp2 A T 18: 44,538,581 (GRCm39) K215* probably null Het
Dnaaf11 A G 15: 66,321,400 (GRCm39) I247T probably benign Het
Ecm2 A G 13: 49,683,632 (GRCm39) N537D probably damaging Het
Emid1 G A 11: 5,085,407 (GRCm39) T113M probably benign Het
Exoc8 C T 8: 125,622,918 (GRCm39) W483* probably null Het
Fes A T 7: 80,030,031 (GRCm39) N582K probably damaging Het
Flnb G T 14: 7,905,507 (GRCm38) E1086* probably null Het
Flnc T A 6: 29,455,844 (GRCm39) D2058E possibly damaging Het
Gatb G A 3: 85,561,112 (GRCm39) D543N probably benign Het
Gm14412 A G 2: 177,009,229 (GRCm39) V9A probably damaging Het
Gm4884 T C 7: 40,692,745 (GRCm39) V238A possibly damaging Het
Igfbp5 A G 1: 72,913,096 (GRCm39) V68A possibly damaging Het
Igflr1 T A 7: 30,267,222 (GRCm39) I330N probably damaging Het
Il1r2 A G 1: 40,154,298 (GRCm39) T222A probably benign Het
Krt87 T C 15: 101,330,989 (GRCm39) E419G probably benign Het
Lman2 A G 13: 55,499,315 (GRCm39) S187P probably damaging Het
Mrpl38 T C 11: 116,029,288 (GRCm39) E76G possibly damaging Het
Mtx3 A G 13: 92,984,112 (GRCm39) I130V probably benign Het
Naf1 T G 8: 67,313,188 (GRCm39) probably benign Het
Nkx2-1 T G 12: 56,580,293 (GRCm39) M216L probably benign Het
Notch1 C A 2: 26,350,019 (GRCm39) V2374L probably benign Het
Nrxn2 A G 19: 6,543,037 (GRCm39) D1087G probably benign Het
Nudt8 T C 19: 4,051,902 (GRCm39) F171S probably damaging Het
Or5an1 T G 19: 12,261,224 (GRCm39) F271V probably benign Het
Pds5a A T 5: 65,785,357 (GRCm39) C916* probably null Het
Phyhip A T 14: 70,699,334 (GRCm39) N46Y probably damaging Het
Pomt1 A G 2: 32,140,874 (GRCm39) Y502C possibly damaging Het
Prkcg A C 7: 3,352,097 (GRCm39) probably benign Het
Prl8a6 C T 13: 27,619,369 (GRCm39) E118K probably benign Het
Prpf39 T C 12: 65,104,689 (GRCm39) probably null Het
Ptprb A G 10: 116,205,262 (GRCm39) H2159R probably damaging Het
Ripor2 A T 13: 24,885,595 (GRCm39) D571V probably damaging Het
Rps19 C T 7: 24,584,552 (GRCm39) L34F probably benign Het
Rusc1 A G 3: 88,996,128 (GRCm39) S145P probably damaging Het
Scn4a T A 11: 106,230,051 (GRCm39) T586S probably damaging Het
Slc7a12 A G 3: 14,546,124 (GRCm39) S90G possibly damaging Het
Specc1l A G 10: 75,082,410 (GRCm39) D619G probably damaging Het
Src A G 2: 157,304,710 (GRCm39) D143G probably benign Het
Sst T C 16: 23,708,558 (GRCm39) N91S probably benign Het
Stxbp5l T A 16: 37,036,398 (GRCm39) I406F probably damaging Het
Thsd1 T A 8: 22,748,887 (GRCm39) I525N probably damaging Het
Ticam2 A T 18: 46,693,467 (GRCm39) F207I probably damaging Het
Tspan10 T C 11: 120,336,989 (GRCm39) V253A probably benign Het
Ttc33 A G 15: 5,237,924 (GRCm39) K99R possibly damaging Het
Vmn1r63 T A 7: 5,806,212 (GRCm39) N140I probably damaging Het
Yju2b C T 8: 84,990,498 (GRCm39) V45I probably benign Het
Zbtb25 A G 12: 76,395,903 (GRCm39) *440Q probably null Het
Zfhx4 T A 3: 5,461,978 (GRCm39) C1218S probably damaging Het
Zfp84 T A 7: 29,476,607 (GRCm39) I433N probably damaging Het
Other mutations in Tsc22d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Tsc22d1 APN 14 76,656,357 (GRCm39) missense probably damaging 0.99
IGL00515:Tsc22d1 APN 14 76,655,917 (GRCm39) missense probably damaging 0.99
IGL00703:Tsc22d1 APN 14 76,742,268 (GRCm39) missense possibly damaging 0.62
IGL00974:Tsc22d1 APN 14 76,743,882 (GRCm39) missense probably damaging 1.00
IGL01015:Tsc22d1 APN 14 76,656,181 (GRCm39) missense possibly damaging 0.66
IGL01515:Tsc22d1 APN 14 76,742,739 (GRCm39) critical splice donor site probably null
IGL02172:Tsc22d1 APN 14 76,655,132 (GRCm39) missense probably benign 0.04
IGL02307:Tsc22d1 APN 14 76,653,901 (GRCm39) missense probably damaging 0.99
IGL02553:Tsc22d1 APN 14 76,654,838 (GRCm39) missense possibly damaging 0.73
IGL02870:Tsc22d1 APN 14 76,655,057 (GRCm39) missense probably benign 0.42
IGL02989:Tsc22d1 APN 14 76,656,341 (GRCm39) missense probably benign 0.05
IGL03216:Tsc22d1 APN 14 76,656,077 (GRCm39) missense probably benign 0.02
R0127:Tsc22d1 UTSW 14 76,656,421 (GRCm39) missense possibly damaging 0.92
R0416:Tsc22d1 UTSW 14 76,742,743 (GRCm39) splice site probably benign
R0854:Tsc22d1 UTSW 14 76,655,641 (GRCm39) nonsense probably null
R0963:Tsc22d1 UTSW 14 76,656,039 (GRCm39) missense possibly damaging 0.92
R1370:Tsc22d1 UTSW 14 76,675,104 (GRCm39) intron probably benign
R1736:Tsc22d1 UTSW 14 76,655,797 (GRCm39) missense probably benign 0.08
R1751:Tsc22d1 UTSW 14 76,655,542 (GRCm39) missense probably damaging 0.98
R1760:Tsc22d1 UTSW 14 76,654,388 (GRCm39) missense possibly damaging 0.69
R1767:Tsc22d1 UTSW 14 76,655,542 (GRCm39) missense probably damaging 0.98
R2020:Tsc22d1 UTSW 14 76,655,773 (GRCm39) missense probably damaging 1.00
R2439:Tsc22d1 UTSW 14 76,654,707 (GRCm39) unclassified probably benign
R2471:Tsc22d1 UTSW 14 76,655,644 (GRCm39) missense probably benign 0.00
R3114:Tsc22d1 UTSW 14 76,654,777 (GRCm39) missense probably damaging 1.00
R3907:Tsc22d1 UTSW 14 76,653,983 (GRCm39) missense probably damaging 0.98
R3973:Tsc22d1 UTSW 14 76,656,049 (GRCm39) missense probably damaging 1.00
R3974:Tsc22d1 UTSW 14 76,656,049 (GRCm39) missense probably damaging 1.00
R3975:Tsc22d1 UTSW 14 76,656,049 (GRCm39) missense probably damaging 1.00
R3976:Tsc22d1 UTSW 14 76,656,049 (GRCm39) missense probably damaging 1.00
R4292:Tsc22d1 UTSW 14 76,656,320 (GRCm39) missense probably benign 0.12
R4612:Tsc22d1 UTSW 14 76,656,445 (GRCm39) missense possibly damaging 0.66
R4806:Tsc22d1 UTSW 14 76,654,428 (GRCm39) splice site probably null
R4980:Tsc22d1 UTSW 14 76,655,696 (GRCm39) missense probably benign 0.02
R5068:Tsc22d1 UTSW 14 76,655,750 (GRCm39) missense probably benign 0.44
R5070:Tsc22d1 UTSW 14 76,655,750 (GRCm39) missense probably benign 0.44
R5239:Tsc22d1 UTSW 14 76,655,852 (GRCm39) missense probably damaging 0.99
R5360:Tsc22d1 UTSW 14 76,654,707 (GRCm39) unclassified probably benign
R5400:Tsc22d1 UTSW 14 76,654,494 (GRCm39) missense probably benign 0.00
R5616:Tsc22d1 UTSW 14 76,653,657 (GRCm39) unclassified probably benign
R5726:Tsc22d1 UTSW 14 76,742,757 (GRCm39) nonsense probably null
R5934:Tsc22d1 UTSW 14 76,656,266 (GRCm39) missense possibly damaging 0.87
R6860:Tsc22d1 UTSW 14 76,655,732 (GRCm39) missense possibly damaging 0.73
R6904:Tsc22d1 UTSW 14 76,743,923 (GRCm39) nonsense probably null
R7016:Tsc22d1 UTSW 14 76,654,982 (GRCm39) missense probably damaging 1.00
R7274:Tsc22d1 UTSW 14 76,654,154 (GRCm39) missense probably damaging 0.98
R7482:Tsc22d1 UTSW 14 76,655,927 (GRCm39) missense probably benign 0.10
R7532:Tsc22d1 UTSW 14 76,653,486 (GRCm39) unclassified probably benign
R7536:Tsc22d1 UTSW 14 76,742,203 (GRCm39) missense probably benign 0.00
R7784:Tsc22d1 UTSW 14 76,654,141 (GRCm39) nonsense probably null
R8161:Tsc22d1 UTSW 14 76,654,460 (GRCm39) missense probably benign 0.02
R8405:Tsc22d1 UTSW 14 76,655,734 (GRCm39) missense probably damaging 1.00
R8963:Tsc22d1 UTSW 14 76,656,266 (GRCm39) missense probably benign 0.06
R9150:Tsc22d1 UTSW 14 76,654,056 (GRCm39) missense probably damaging 0.99
R9259:Tsc22d1 UTSW 14 76,654,484 (GRCm39) missense probably damaging 1.00
R9431:Tsc22d1 UTSW 14 76,654,707 (GRCm39) unclassified probably benign
R9439:Tsc22d1 UTSW 14 76,743,899 (GRCm39) missense probably damaging 0.99
R9614:Tsc22d1 UTSW 14 76,653,983 (GRCm39) missense probably damaging 0.98
R9708:Tsc22d1 UTSW 14 76,654,664 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGTAGAAACCGTGGCCCAAG -3'
(R):5'- CATCTGAAACTGCTGACATTCCCC -3'

Sequencing Primer
(F):5'- TTCCCAGCAGTTGCCCACAG -3'
(R):5'- AACTGCTGACATTCCCCCACTG -3'
Posted On 2014-10-15