Incidental Mutation 'R7016:Tsc22d1'
ID 545336
Institutional Source Beutler Lab
Gene Symbol Tsc22d1
Ensembl Gene ENSMUSG00000022010
Gene Name TSC22 domain family, member 1
Synonyms Tgfb1i4, TSC-22, Egr5
MMRRC Submission 045117-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R7016 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 76652401-76745205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 76654982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 405 (T405K)
Ref Sequence ENSEMBL: ENSMUSP00000106513 (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: T487K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010
AA Change: T487K

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: ENSMUST00000110888
AA Change: T405K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106513
Gene: ENSMUSG00000022010
AA Change: T405K

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 benign
Transcript: ENSMUST00000175984
SMART Domains Protein: ENSMUSP00000135307
Gene: ENSMUSG00000022010

DomainStartEndE-ValueType
low complexity region 77 114 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176581
SMART Domains Protein: ENSMUSP00000135789
Gene: ENSMUSG00000022010

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

DomainStartEndE-ValueType
low complexity region 18 55 N/A INTRINSIC
Meta Mutation Damage Score 0.0911 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (63/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,986,843 (GRCm39) V754D probably benign Het
Actn1 T A 12: 80,219,742 (GRCm39) M710L possibly damaging Het
Adam1a A G 5: 121,659,101 (GRCm39) F64S probably benign Het
Aip G T 19: 4,171,402 (GRCm39) D11E probably benign Het
Ak7 T A 12: 105,747,938 (GRCm39) Y714* probably null Het
Amhr2 A G 15: 102,362,799 (GRCm39) E522G possibly damaging Het
Amotl1 A G 9: 14,504,995 (GRCm39) L108P probably damaging Het
Arhgef17 A G 7: 100,528,184 (GRCm39) S677P probably benign Het
Asph T C 4: 9,630,604 (GRCm39) probably null Het
Atp11b T C 3: 35,895,185 (GRCm39) S908P probably benign Het
Atp13a3 C A 16: 30,157,308 (GRCm39) V903L possibly damaging Het
Bcam G A 7: 19,492,368 (GRCm39) R576* probably null Het
Btbd2 A G 10: 80,484,449 (GRCm39) S141P probably damaging Het
Cacna1b T C 2: 24,652,860 (GRCm39) N67S possibly damaging Het
Cc2d2b A G 19: 40,784,248 (GRCm39) T872A possibly damaging Het
Ccdc24 T A 4: 117,728,313 (GRCm39) I144F probably null Het
Cep44 A T 8: 56,997,234 (GRCm39) F101L possibly damaging Het
Cfap410 T A 10: 77,818,790 (GRCm39) C154S probably benign Het
Cimap1d T C 10: 79,475,790 (GRCm39) Y258C probably damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnajc21 G T 15: 10,461,493 (GRCm39) Y152* probably null Het
Edem2 A G 2: 155,557,992 (GRCm39) F214L possibly damaging Het
Fam118b G A 9: 35,135,014 (GRCm39) R198W probably damaging Het
Fgb A G 3: 82,953,371 (GRCm39) V133A probably benign Het
Fsip2 A G 2: 82,820,979 (GRCm39) T5571A probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hnf4a T A 2: 163,406,193 (GRCm39) Y277N probably damaging Het
Htatip2 A G 7: 49,420,583 (GRCm39) D143G possibly damaging Het
Itgae A G 11: 73,010,342 (GRCm39) N611D probably damaging Het
Ksr1 A T 11: 78,918,362 (GRCm39) N515K probably damaging Het
Lrp1 C A 10: 127,395,836 (GRCm39) probably null Het
Map3k20 T A 2: 72,208,979 (GRCm39) V195D probably damaging Het
Meox2 A G 12: 37,159,223 (GRCm39) S132G probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nell2 T A 15: 95,127,032 (GRCm39) N781I possibly damaging Het
Or12d16-ps1 G A 17: 37,706,094 (GRCm39) G221D possibly damaging Het
Or13a22 A G 7: 140,073,153 (GRCm39) T201A probably benign Het
Or51m1 A G 7: 103,578,737 (GRCm39) I236V probably benign Het
Or5e1 A G 7: 108,354,918 (GRCm39) N285S probably damaging Het
Otoa A T 7: 120,746,989 (GRCm39) Q918L probably damaging Het
Palld T G 8: 61,969,032 (GRCm39) K1022T probably damaging Het
Parp8 A T 13: 117,031,627 (GRCm39) S362T probably damaging Het
Phrf1 A G 7: 140,817,476 (GRCm39) E95G probably damaging Het
Pls1 A T 9: 95,668,994 (GRCm39) F76I probably damaging Het
Pnp T A 14: 51,187,706 (GRCm39) probably null Het
Ptdss1 A C 13: 67,120,685 (GRCm39) M294L probably benign Het
Rictor T A 15: 6,804,361 (GRCm39) probably null Het
Rilp A G 11: 75,401,745 (GRCm39) E175G probably damaging Het
Serpina16 T A 12: 103,641,630 (GRCm39) T32S probably benign Het
Sim1 C T 10: 50,860,346 (GRCm39) S736L probably benign Het
Smarcc2 T G 10: 128,321,198 (GRCm39) probably null Het
Smtn A G 11: 3,480,368 (GRCm39) probably null Het
Sspo T A 6: 48,426,098 (GRCm39) W98R probably damaging Het
St8sia3 A T 18: 64,402,654 (GRCm39) I98F probably benign Het
Taf10 A T 7: 105,393,205 (GRCm39) probably null Het
Tasor2 A T 13: 3,626,857 (GRCm39) V1031E possibly damaging Het
Tbc1d4 T A 14: 101,724,877 (GRCm39) N580I probably damaging Het
Trim12c A T 7: 103,997,413 (GRCm39) C48S Het
Tubgcp5 A G 7: 55,443,977 (GRCm39) D2G possibly damaging Het
Wwc2 T C 8: 48,300,583 (GRCm39) E960G unknown Het
Yme1l1 T A 2: 23,076,367 (GRCm39) probably null Het
Zbtb2 G C 10: 4,318,646 (GRCm39) P460R probably damaging Het
Zfp62 T G 11: 49,106,764 (GRCm39) I285S 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
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
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'- AAAGGTCGATGGACTTGCAC -3'
(R):5'- TCAACTCTTGAGGCTGTAACTG -3'

Sequencing Primer
(F):5'- GTCGATGGACTTGCACAGAATTC -3'
(R):5'- AGGCTGTAACTGTACTTGTGACATC -3'
Posted On 2019-05-13