Incidental Mutation 'IGL00974:Tsc22d1'
ID 28994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsc22d1
Ensembl Gene ENSMUSG00000022010
Gene Name TSC22 domain family, member 1
Synonyms Tgfb1i4, TSC-22, Egr5
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # IGL00974
Quality Score
Status
Chromosome 14
Chromosomal Location 76652401-76745205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76743882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 10 (Y10C)
Ref Sequence ENSEMBL: ENSMUSP00000135493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022587] [ENSMUST00000048371] [ENSMUST00000101618] [ENSMUST00000110888] [ENSMUST00000133224] [ENSMUST00000134109] [ENSMUST00000142683] [ENSMUST00000140251] [ENSMUST00000177207]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000022587
AA Change: Y67C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022587
Gene: ENSMUSG00000022010
AA Change: Y67C

DomainStartEndE-ValueType
Pfam:TSC22 58 117 3.2e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000048371
AA Change: Y1001C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010
AA Change: Y1001C

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 probably damaging
Transcript: ENSMUST00000101618
AA Change: Y31C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099140
Gene: ENSMUSG00000022010
AA Change: Y31C

DomainStartEndE-ValueType
Pfam:TSC22 22 81 1e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110888
AA Change: Y919C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106513
Gene: ENSMUSG00000022010
AA Change: Y919C

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: ENSMUST00000133224
AA Change: Y10C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135561
Gene: ENSMUSG00000022010
AA Change: Y10C

DomainStartEndE-ValueType
Pfam:TSC22 1 60 1.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134109
Predicted Effect probably damaging
Transcript: ENSMUST00000142683
AA Change: Y10C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135493
Gene: ENSMUSG00000022010
AA Change: Y10C

DomainStartEndE-ValueType
Pfam:TSC22 1 60 1.3e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140251
AA Change: Y10C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135806
Gene: ENSMUSG00000022010
AA Change: Y10C

DomainStartEndE-ValueType
Pfam:TSC22 1 60 1.3e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177207
AA Change: Y10C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135296
Gene: ENSMUSG00000022010
AA Change: Y10C

DomainStartEndE-ValueType
Pfam:TSC22 1 60 1.3e-35 PFAM
Coding Region Coverage
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brwd1 T A 16: 95,844,226 (GRCm39) K776M probably damaging Het
Crisp4 T C 1: 18,198,871 (GRCm39) T188A probably damaging Het
E130311K13Rik T A 3: 63,827,784 (GRCm39) probably null Het
Fyb1 A G 15: 6,672,066 (GRCm39) probably benign Het
Gcn1 G A 5: 115,751,852 (GRCm39) V2076M possibly damaging Het
Grik5 A T 7: 24,713,310 (GRCm39) I766N probably damaging Het
Grk3 A G 5: 113,133,685 (GRCm39) Y46H probably damaging Het
Gtf2a1l A G 17: 89,022,377 (GRCm39) D456G probably damaging Het
Kcna10 A G 3: 107,102,647 (GRCm39) D426G probably damaging Het
Luzp2 A T 7: 54,724,774 (GRCm39) I112F probably damaging Het
Med12l G T 3: 58,990,435 (GRCm39) R519M probably damaging Het
Mrpl39 G A 16: 84,520,740 (GRCm39) P300S probably damaging Het
Polr3a A T 14: 24,529,492 (GRCm39) I328N probably benign Het
Slc22a8 A G 19: 8,587,290 (GRCm39) N450S probably damaging Het
Slc38a4 T C 15: 96,897,397 (GRCm39) T473A probably benign Het
Slc4a7 C T 14: 14,760,292 (GRCm38) P576S probably benign Het
Tecta A G 9: 42,242,670 (GRCm39) I2057T probably benign Het
Tnks1bp1 C T 2: 84,893,226 (GRCm39) T389I possibly damaging Het
Tnxb T C 17: 34,937,707 (GRCm39) probably null Het
Vmn1r34 T C 6: 66,614,639 (GRCm39) H33R possibly damaging Het
Vmn2r102 G T 17: 19,897,771 (GRCm39) W262L possibly 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
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
R2209:Tsc22d1 UTSW 14 76,656,180 (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
Posted On 2013-04-17