Incidental Mutation 'IGL02191:Tmpo'
ID 283862
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmpo
Ensembl Gene ENSMUSG00000019961
Gene Name thymopoietin
Synonyms TP, LAP2, lamina-associated polypeptide 2, 5630400D24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02191
Quality Score
Status
Chromosome 10
Chromosomal Location 90983433-91017177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90997741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 682 (V682A)
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 benign
Transcript: ENSMUST00000020123
AA Change: V682A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000020123
Gene: ENSMUSG00000019961
AA Change: V682A

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 benign
Transcript: ENSMUST00000072239
SMART Domains Protein: ENSMUSP00000072092
Gene: ENSMUSG00000019961

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 benign
Transcript: ENSMUST00000092219
SMART Domains Protein: ENSMUSP00000089864
Gene: ENSMUSG00000019961

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 benign
Transcript: ENSMUST00000099355
SMART Domains Protein: ENSMUSP00000096956
Gene: ENSMUSG00000019961

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 benign
Transcript: ENSMUST00000105293
SMART Domains Protein: ENSMUSP00000100930
Gene: ENSMUSG00000019961

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215126
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,220,883 (GRCm39) I642V probably benign Het
Adam5 G A 8: 25,302,439 (GRCm39) R185* probably null Het
C2 T C 17: 35,085,539 (GRCm39) I122V probably damaging Het
Camsap1 A G 2: 25,819,892 (GRCm39) I1531T probably damaging Het
Celsr1 T C 15: 85,863,205 (GRCm39) T1276A possibly damaging Het
Cnot7 A T 8: 40,963,068 (GRCm39) N35K probably benign Het
Cyp2a12 A G 7: 26,736,036 (GRCm39) I482V probably benign Het
Cyp3a57 A G 5: 145,302,495 (GRCm39) E97G probably damaging Het
Cyp51 C A 5: 4,150,147 (GRCm39) R192I probably benign Het
Ddx59 T C 1: 136,344,896 (GRCm39) L189P probably damaging Het
Dnah6 A G 6: 72,994,780 (GRCm39) I4127T probably benign Het
Dock3 C T 9: 106,815,340 (GRCm39) V1217I probably benign Het
Ergic2 T C 6: 148,106,319 (GRCm39) D57G probably null Het
Flvcr2 A T 12: 85,832,966 (GRCm39) K329* probably null Het
Foxp1 T C 6: 98,922,561 (GRCm39) S327G probably damaging Het
Gen1 A C 12: 11,292,297 (GRCm39) H562Q probably benign Het
Gjc2 A G 11: 59,068,386 (GRCm39) V32A probably damaging Het
Grk4 C T 5: 34,912,533 (GRCm39) H574Y probably benign Het
Kif15 T A 9: 122,804,744 (GRCm39) C93S probably damaging Het
Lrtm1 A C 14: 28,743,906 (GRCm39) I125L probably benign Het
Mrgprb8 A G 7: 48,038,527 (GRCm39) Y66C probably damaging Het
Pfn1 G A 11: 70,545,209 (GRCm39) A33V probably damaging Het
Scnn1b A C 7: 121,516,736 (GRCm39) K492Q probably damaging Het
Slc22a29 G A 19: 8,196,045 (GRCm39) probably benign Het
Spocd1 A G 4: 129,847,380 (GRCm39) D523G probably damaging Het
Tmem144 A T 3: 79,734,159 (GRCm39) D181E possibly damaging Het
Tmem220 G A 11: 66,921,933 (GRCm39) C101Y probably damaging Het
Wdr93 A G 7: 79,398,968 (GRCm39) K34R probably damaging Het
Zdhhc16 C A 19: 41,926,130 (GRCm39) C8* probably null Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null 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
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
R7880:Tmpo UTSW 10 91,001,892 (GRCm39) nonsense 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
Posted On 2015-04-16