Incidental Mutation 'IGL01813:Tmpo'
ID 278892
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 # IGL01813
Quality Score
Status
Chromosome 10
Chromosomal Location 90983433-91017177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90999104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 228 (R228C)
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: R228C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000020123
Gene: ENSMUSG00000019961
AA Change: R228C

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: ENSMUST00000215126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216402
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,117,936 (GRCm39) probably benign Het
Adgrb2 T C 4: 129,906,359 (GRCm39) V929A probably benign Het
Aldh2 T C 5: 121,710,136 (GRCm39) I400V probably benign Het
Atxn2l T C 7: 126,099,425 (GRCm39) D84G probably damaging Het
Avpr1a T A 10: 122,284,916 (GRCm39) N69K probably damaging Het
BC034090 G A 1: 155,102,085 (GRCm39) Q60* probably null Het
Bltp1 G A 3: 36,982,669 (GRCm39) S778N possibly damaging Het
Bub3 T C 7: 131,170,362 (GRCm39) S295P probably benign Het
Cacna1b T C 2: 24,499,902 (GRCm39) S161G probably damaging Het
Clba1 C T 12: 112,779,179 (GRCm39) T272M probably damaging Het
Col6a4 T A 9: 105,954,452 (GRCm39) S296C probably damaging Het
Cyp4f15 G A 17: 32,905,131 (GRCm39) R38H probably benign Het
Dync2h1 T C 9: 7,122,799 (GRCm39) I2052M probably damaging Het
Gm11627 T C 11: 102,469,634 (GRCm39) probably benign Het
Jmjd8 A T 17: 26,048,212 (GRCm39) probably null Het
Kmt2c A G 5: 25,495,802 (GRCm39) V629A possibly damaging Het
Kremen1 T C 11: 5,149,667 (GRCm39) T335A probably benign Het
Oosp2 T C 19: 11,628,847 (GRCm39) T85A probably benign Het
Or12d17 A G 17: 37,777,649 (GRCm39) E184G probably damaging Het
Or8s10 A G 15: 98,335,530 (GRCm39) Y60C possibly damaging Het
Pex5l T C 3: 33,136,204 (GRCm39) E5G probably benign Het
Pigk A T 3: 152,448,156 (GRCm39) Q173L probably damaging Het
Pik3c2g T A 6: 139,599,407 (GRCm39) N174K possibly damaging Het
Plb1 C T 5: 32,486,429 (GRCm39) H893Y probably damaging Het
Pus7 T C 5: 23,965,302 (GRCm39) probably benign Het
R3hdm1 G A 1: 128,102,970 (GRCm39) probably null Het
Samd7 C T 3: 30,808,435 (GRCm39) P83S probably benign Het
Supt5 T A 7: 28,023,400 (GRCm39) Y293F probably damaging Het
Tbc1d30 T C 10: 121,102,956 (GRCm39) D692G probably benign Het
Tnn A T 1: 159,916,008 (GRCm39) H1236Q probably damaging Het
Ubr3 T C 2: 69,781,914 (GRCm39) I667T probably benign Het
Vmn1r183 T A 7: 23,754,985 (GRCm39) F263I 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
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
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