Incidental Mutation 'IGL02989:Tsc22d1'
ID 406847
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 # IGL02989
Quality Score
Status
Chromosome 14
Chromosomal Location 76652401-76745205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76656341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 940 (M940T)
Ref Sequence ENSEMBL: ENSMUSP00000044517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048371] [ENSMUST00000110888] [ENSMUST00000175984] [ENSMUST00000176581] [ENSMUST00000176886] [ENSMUST00000177471]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000048371
AA Change: M940T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010
AA Change: M940T

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 benign
Transcript: ENSMUST00000110888
AA Change: M858T

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106513
Gene: ENSMUSG00000022010
AA Change: M858T

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 unknown
Transcript: ENSMUST00000175984
AA Change: M84T
SMART Domains Protein: ENSMUSP00000135307
Gene: ENSMUSG00000022010
AA Change: M84T

DomainStartEndE-ValueType
low complexity region 77 114 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176581
AA Change: M85T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000135789
Gene: ENSMUSG00000022010
AA Change: M85T

DomainStartEndE-ValueType
low complexity region 78 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177333
Predicted Effect unknown
Transcript: ENSMUST00000177471
AA Change: M25T
SMART Domains Protein: ENSMUSP00000134792
Gene: ENSMUSG00000022010
AA Change: M25T

DomainStartEndE-ValueType
low complexity region 18 55 N/A INTRINSIC
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 T A 19: 20,617,422 (GRCm39) probably benign Het
Arhgap15 A G 2: 43,670,748 (GRCm39) D44G probably damaging Het
Arhgap35 A T 7: 16,231,580 (GRCm39) *1500R probably null Het
Arid1b A G 17: 5,385,322 (GRCm39) Y1413C probably damaging Het
Atf6 A G 1: 170,616,252 (GRCm39) probably benign Het
Cant1 T C 11: 118,302,038 (GRCm39) Y93C probably damaging Het
Cat A G 2: 103,303,318 (GRCm39) F153S probably damaging Het
Ccdc187 G A 2: 26,166,443 (GRCm39) R712W possibly damaging Het
Clpb T C 7: 101,428,427 (GRCm39) S396P probably damaging Het
Cntnap5a A G 1: 116,339,813 (GRCm39) probably benign Het
Dap3 G A 3: 88,837,878 (GRCm39) probably benign Het
Dnah6 T A 6: 73,046,403 (GRCm39) D3195V probably damaging Het
Eprs1 T G 1: 185,150,563 (GRCm39) F1355C probably benign Het
Faim2 A G 15: 99,418,243 (GRCm39) probably benign Het
Fancg A G 4: 43,007,121 (GRCm39) probably benign Het
Fbxo42 T A 4: 140,926,845 (GRCm39) I375N probably damaging Het
Gabrr3 A T 16: 59,268,371 (GRCm39) D328V probably damaging Het
Gm5849 T A 3: 90,685,107 (GRCm39) D26V probably damaging Het
Gm6563 T C 19: 23,653,234 (GRCm39) L8P possibly damaging Het
Gpld1 A G 13: 25,174,019 (GRCm39) N815D possibly damaging Het
Hrob A G 11: 102,146,125 (GRCm39) I134V probably benign Het
Idh2 T A 7: 79,748,856 (GRCm39) I142F probably damaging Het
Kcnh7 A C 2: 62,552,269 (GRCm39) N907K probably benign Het
Mcm3ap A G 10: 76,306,894 (GRCm39) T336A possibly damaging Het
Or4c15 A T 2: 88,760,048 (GRCm39) S204T possibly damaging Het
Or52i2 T C 7: 102,319,651 (GRCm39) S175P possibly damaging Het
Or5b3 C A 19: 13,388,850 (GRCm39) Q306K probably benign Het
Pilrb1 C A 5: 137,855,492 (GRCm39) R133L possibly damaging Het
Pitpnm3 C A 11: 72,011,012 (GRCm39) probably benign Het
Prkdc C T 16: 15,617,880 (GRCm39) T3237I possibly damaging Het
Pspc1 A G 14: 57,009,153 (GRCm39) probably benign Het
Rasgrp4 G A 7: 28,847,831 (GRCm39) E414K probably damaging Het
Rgs12 T A 5: 35,122,463 (GRCm39) L82Q probably damaging Het
Sh3gl3 T C 7: 81,923,087 (GRCm39) V117A probably benign Het
Shisa5 G A 9: 108,885,062 (GRCm39) A112T probably damaging Het
Tasor2 A T 13: 3,634,820 (GRCm39) H662Q probably benign Het
Tedc1 A G 12: 113,126,941 (GRCm39) E401G probably benign Het
Vmn1r129 A T 7: 21,094,663 (GRCm39) V185E probably damaging Het
Zfp982 C A 4: 147,597,052 (GRCm39) D136E 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
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
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 2016-08-02