Incidental Mutation 'R7880:Tmpo'
ID 608709
Institutional Source Beutler Lab
Gene Symbol Tmpo
Ensembl Gene ENSMUSG00000019961
Gene Name thymopoietin
Synonyms TP, LAP2, lamina-associated polypeptide 2, 5630400D24Rik
MMRRC Submission 045932-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7880 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 90983433-91017177 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 91001892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 106 (K106*)
Ref Sequence ENSEMBL: ENSMUSP00000020123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020123] [ENSMUST00000072239] [ENSMUST00000092219] [ENSMUST00000099355] [ENSMUST00000105293]
AlphaFold Q61033
PDB Structure THE DIMERIZATION DOMAIN OF LAP2ALPHA [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000020123
AA Change: K106*
SMART Domains Protein: ENSMUSP00000020123
Gene: ENSMUSG00000019961
AA Change: K106*

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
low complexity region 189 197 N/A INTRINSIC
low complexity region 410 422 N/A INTRINSIC
Pfam:LAP2alpha 459 692 6.4e-155 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000072239
AA Change: K106*
SMART Domains Protein: ENSMUSP00000072092
Gene: ENSMUSG00000019961
AA Change: K106*

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
low complexity region 226 240 N/A INTRINSIC
transmembrane domain 410 429 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000092219
AA Change: K106*
SMART Domains Protein: ENSMUSP00000089864
Gene: ENSMUSG00000019961
AA Change: K106*

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000099355
AA Change: K106*
SMART Domains Protein: ENSMUSP00000096956
Gene: ENSMUSG00000019961
AA Change: K106*

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
transmembrane domain 338 357 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000105293
AA Change: K106*
SMART Domains Protein: ENSMUSP00000100930
Gene: ENSMUSG00000019961
AA Change: K106*

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
transmembrane domain 301 320 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene resides in the nucleus and may play a role in the assembly of the nuclear lamina, and thus help maintain the structural organization of the nuclear envelope. It may function as a receptor for the attachment of lamin filaments to the inner nuclear membrane. Mutations in this gene are associated with dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous null for a protein isoform generated from this locus have hyperproliferation of epidermal and erythroid progenitor cells that leads to thickened paws and increased crypt lengths in the colon. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T A 7: 133,511,691 (GRCm39) D703V possibly damaging Het
Adamts1 G A 16: 85,594,940 (GRCm39) R340* probably null Het
Akap13 A G 7: 75,235,964 (GRCm39) T180A probably damaging Het
Arhgap31 G A 16: 38,423,087 (GRCm39) A993V probably benign Het
Asxl3 C T 18: 22,655,208 (GRCm39) P1073S possibly damaging Het
Bmp3 T G 5: 99,020,434 (GRCm39) S286A probably damaging Het
Cacna2d4 C T 6: 119,326,116 (GRCm39) S1078F probably damaging Het
Cd101 A G 3: 100,915,182 (GRCm39) L799P probably benign Het
Chst13 C T 6: 90,302,062 (GRCm39) R28H possibly damaging Het
CN725425 T A 15: 91,130,308 (GRCm39) C390* probably null Het
Crabp1 C A 9: 54,672,942 (GRCm39) C82* probably null Het
Cyp2b23 A C 7: 26,372,559 (GRCm39) V352G probably damaging Het
Dmrta1 T A 4: 89,577,081 (GRCm39) V179E possibly damaging Het
Ect2l T C 10: 18,012,702 (GRCm39) D839G possibly damaging Het
Espnl A T 1: 91,272,488 (GRCm39) E616V possibly damaging Het
Fam50b C A 13: 34,930,802 (GRCm39) Q93K probably benign Het
Focad C T 4: 88,319,407 (GRCm39) R1539C unknown Het
Gm14443 T A 2: 175,011,163 (GRCm39) I428L probably benign Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Gramd1c C G 16: 43,812,439 (GRCm39) A193P probably benign Het
Gsn A G 2: 35,173,939 (GRCm39) H54R probably damaging Het
Gucy2g T A 19: 55,194,712 (GRCm39) I902F probably damaging Het
H2-T9 T A 17: 36,438,761 (GRCm39) H210L possibly damaging Het
Heg1 T C 16: 33,539,879 (GRCm39) S280P possibly damaging Het
Herc1 G T 9: 66,415,506 (GRCm39) R4827L probably damaging Het
Igsf21 A G 4: 139,884,819 (GRCm39) C46R probably damaging Het
Kansl1 G T 11: 104,314,979 (GRCm39) A353D probably damaging Het
Kcnab3 A G 11: 69,222,290 (GRCm39) Y311C probably damaging Het
Kctd18 A G 1: 58,006,778 (GRCm39) I24T possibly damaging Het
Lpcat4 C A 2: 112,070,376 (GRCm39) H30N probably benign Het
Lrrc4c A G 2: 97,461,143 (GRCm39) I590V probably benign Het
Lrrc69 T C 4: 14,703,946 (GRCm39) I291M possibly damaging Het
Nsun6 A C 2: 15,001,190 (GRCm39) C455W probably damaging Het
Or12e1 T A 2: 87,022,434 (GRCm39) C134* probably null Het
Or4c3 A T 2: 89,852,381 (GRCm39) F10I probably damaging Het
Or5ak22 G T 2: 85,230,379 (GRCm39) S166Y possibly damaging Het
Or7g19 T G 9: 18,856,024 (GRCm39) L27V probably benign Het
Orc6 T C 8: 86,031,873 (GRCm39) I162T probably benign Het
Pex13 A T 11: 23,599,369 (GRCm39) S381T probably benign Het
Ppil1 G A 17: 29,480,762 (GRCm39) H54Y probably damaging Het
Prrt4 T C 6: 29,170,155 (GRCm39) I766V probably benign Het
Rab32 C T 10: 10,422,159 (GRCm39) V187M probably damaging Het
Sema5a T A 15: 32,686,954 (GRCm39) I1022N probably damaging Het
Sipa1l2 T C 8: 126,191,132 (GRCm39) T953A probably damaging Het
Snapc3 T C 4: 83,353,431 (GRCm39) S157P probably damaging Het
Spink5 A G 18: 44,119,393 (GRCm39) R235G probably benign Het
Stx5a G A 19: 8,719,692 (GRCm39) G19D probably damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Taf4 G A 2: 179,577,726 (GRCm39) R532* probably null Het
Trnt1 T C 6: 106,746,517 (GRCm39) probably null Het
Vmn1r228 A T 17: 20,996,672 (GRCm39) I282N probably damaging Het
Vps13d A T 4: 144,907,684 (GRCm39) probably null Het
Zfp703 A G 8: 27,468,718 (GRCm39) I51V unknown Het
Zfp787 A G 7: 6,135,190 (GRCm39) F354L probably benign Het
Znrf2 T C 6: 54,794,332 (GRCm39) V111A probably benign Het
Zwint G T 10: 72,492,924 (GRCm39) R182L probably benign Het
Other mutations in Tmpo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00768:Tmpo APN 10 91,000,068 (GRCm39) splice site probably benign
IGL00791:Tmpo APN 10 90,998,420 (GRCm39) missense possibly damaging 0.94
IGL00919:Tmpo APN 10 90,998,662 (GRCm39) missense probably damaging 0.99
IGL01382:Tmpo APN 10 91,001,912 (GRCm39) missense probably damaging 1.00
IGL01806:Tmpo APN 10 90,999,104 (GRCm39) missense probably benign 0.01
IGL01813:Tmpo APN 10 90,999,104 (GRCm39) missense probably benign 0.01
IGL01838:Tmpo APN 10 90,999,104 (GRCm39) missense probably benign 0.01
IGL01952:Tmpo APN 10 90,999,104 (GRCm39) missense probably benign 0.01
IGL02110:Tmpo APN 10 90,998,727 (GRCm39) missense probably damaging 1.00
IGL02122:Tmpo APN 10 90,999,998 (GRCm39) missense possibly damaging 0.77
IGL02191:Tmpo APN 10 90,997,741 (GRCm39) missense probably benign 0.00
IGL02338:Tmpo APN 10 90,999,104 (GRCm39) missense probably benign 0.01
PIT4366001:Tmpo UTSW 10 90,999,172 (GRCm39) missense probably damaging 1.00
PIT4544001:Tmpo UTSW 10 90,997,976 (GRCm39) missense probably benign
R0133:Tmpo UTSW 10 90,999,900 (GRCm39) splice site probably benign
R0450:Tmpo UTSW 10 90,998,958 (GRCm39) missense probably benign 0.45
R0469:Tmpo UTSW 10 90,998,958 (GRCm39) missense probably benign 0.45
R0836:Tmpo UTSW 10 90,997,815 (GRCm39) nonsense probably null
R2405:Tmpo UTSW 10 90,999,216 (GRCm39) missense probably damaging 1.00
R2919:Tmpo UTSW 10 90,988,548 (GRCm39) missense probably benign 0.23
R4059:Tmpo UTSW 10 90,998,123 (GRCm39) missense probably benign 0.00
R4296:Tmpo UTSW 10 90,998,818 (GRCm39) missense possibly damaging 0.49
R4741:Tmpo UTSW 10 90,998,506 (GRCm39) missense probably benign 0.18
R4881:Tmpo UTSW 10 90,998,503 (GRCm39) missense possibly damaging 0.93
R4915:Tmpo UTSW 10 90,985,411 (GRCm39) missense probably damaging 1.00
R4917:Tmpo UTSW 10 90,985,411 (GRCm39) missense probably damaging 1.00
R4960:Tmpo UTSW 10 90,989,171 (GRCm39) missense probably damaging 1.00
R5002:Tmpo UTSW 10 90,999,976 (GRCm39) missense possibly damaging 0.76
R5301:Tmpo UTSW 10 90,985,650 (GRCm39) intron probably benign
R6167:Tmpo UTSW 10 90,998,800 (GRCm39) missense probably benign
R6190:Tmpo UTSW 10 91,000,069 (GRCm39) splice site probably null
R6979:Tmpo UTSW 10 90,988,359 (GRCm39) splice site probably null
R8343:Tmpo UTSW 10 90,997,974 (GRCm39) missense probably benign 0.00
R8492:Tmpo UTSW 10 90,997,720 (GRCm39) missense probably benign 0.04
R8870:Tmpo UTSW 10 90,987,581 (GRCm39) missense probably damaging 1.00
R9088:Tmpo UTSW 10 90,989,138 (GRCm39) critical splice donor site probably null
R9328:Tmpo UTSW 10 90,998,825 (GRCm39) missense probably damaging 1.00
R9598:Tmpo UTSW 10 90,994,608 (GRCm39) critical splice donor site probably null
Z1177:Tmpo UTSW 10 90,998,722 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- ATGGTCTCAGAAGATCCCCTAAC -3'
(R):5'- CTCAACCCTCAAGAGCAGTG -3'

Sequencing Primer
(F):5'- ATCCATAATGGGATCTGATGCCC -3'
(R):5'- TTGAACCTGGATCCTCTAGAAGAGC -3'
Posted On 2019-12-20