Incidental Mutation 'IGL02110:Tmpo'
ID 280086
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 # IGL02110
Quality Score
Status
Chromosome 10
Chromosomal Location 90983433-91017177 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 90998727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 353 (S353R)
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 damaging
Transcript: ENSMUST00000020123
AA Change: S353R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020123
Gene: ENSMUSG00000019961
AA Change: S353R

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7e A G 15: 77,598,548 (GRCm39) probably null Het
Arhgef40 C T 14: 52,226,862 (GRCm39) T302M probably damaging Het
Bap1 T C 14: 30,979,371 (GRCm39) L458P probably damaging Het
Bbs12 A G 3: 37,373,336 (GRCm39) E43G probably benign Het
Bod1l C T 5: 41,973,796 (GRCm39) C2506Y probably damaging Het
Ccdc170 A G 10: 4,491,885 (GRCm39) probably null Het
Chpf2 A G 5: 24,796,710 (GRCm39) E552G probably damaging Het
Comp T A 8: 70,826,289 (GRCm39) I23N probably benign Het
Cxcl2 T C 5: 91,052,211 (GRCm39) probably benign Het
Dctn5 T C 7: 121,734,374 (GRCm39) F73L probably damaging Het
Ddx5 T C 11: 106,675,835 (GRCm39) E285G probably damaging Het
Ddx60 T G 8: 62,470,281 (GRCm39) probably null Het
Dhcr24 T A 4: 106,430,998 (GRCm39) I229N probably damaging Het
Dnah7a G A 1: 53,450,739 (GRCm39) T3897I possibly damaging Het
Dvl2 T A 11: 69,898,842 (GRCm39) probably benign Het
Dytn A T 1: 63,686,632 (GRCm39) V346E possibly damaging Het
Eepd1 T C 9: 25,514,698 (GRCm39) probably benign Het
Fbln2 G T 6: 91,211,084 (GRCm39) A343S probably benign Het
Flywch1 T C 17: 23,982,066 (GRCm39) probably null Het
Gckr A T 5: 31,456,082 (GRCm39) T81S possibly damaging Het
Gm6139 T A 5: 129,700,656 (GRCm39) noncoding transcript Het
Gpcpd1 A T 2: 132,372,530 (GRCm39) C657* probably null Het
Greb1l A G 18: 10,515,271 (GRCm39) I89V probably damaging Het
Hdac4 G A 1: 91,912,127 (GRCm39) P421S probably benign Het
Iqca1l A G 5: 24,753,082 (GRCm39) probably benign Het
Klhl1 A G 14: 96,374,039 (GRCm39) L669P probably benign Het
Mios A G 6: 8,215,565 (GRCm39) R254G probably damaging Het
Mmp19 A G 10: 128,630,727 (GRCm39) N116D probably damaging Het
Muc5b T A 7: 141,401,453 (GRCm39) C566* probably null Het
Nadsyn1 T C 7: 143,367,164 (GRCm39) Y141C probably damaging Het
Nlrp4d T C 7: 10,116,491 (GRCm39) noncoding transcript Het
Nob1 A T 8: 108,142,804 (GRCm39) *160R probably null Het
Or10ac1 A G 6: 42,515,113 (GRCm39) V281A possibly damaging Het
Or1f12 T A 13: 21,722,112 (GRCm39) Q21L possibly damaging Het
Or1j17 A G 2: 36,578,697 (GRCm39) T228A probably benign Het
Or4k45 C T 2: 111,395,252 (GRCm39) C179Y probably damaging Het
Or51s1 C T 7: 102,558,402 (GRCm39) V215I probably benign Het
Or56b1b C A 7: 108,164,286 (GRCm39) A239S probably damaging Het
Phc1 T C 6: 122,298,994 (GRCm39) D658G possibly damaging Het
Pitx2 T G 3: 129,012,466 (GRCm39) S299A probably damaging Het
Plekha7 C A 7: 115,753,863 (GRCm39) probably null Het
Ptgfr A G 3: 151,541,097 (GRCm39) V137A probably damaging Het
Ptprb T C 10: 116,167,108 (GRCm39) probably benign Het
Rasl2-9 C T 7: 5,128,346 (GRCm39) A195T probably benign Het
Ripor3 T A 2: 167,836,626 (GRCm39) Q121L possibly damaging Het
Sgsh G T 11: 119,243,632 (GRCm39) A30E probably damaging Het
Sis G T 3: 72,836,032 (GRCm39) C852* probably null Het
Slc17a9 A G 2: 180,374,369 (GRCm39) probably benign Het
Slco6b1 A T 1: 96,915,607 (GRCm39) noncoding transcript Het
Smarca2 A G 19: 26,650,140 (GRCm39) Y704C possibly damaging Het
Spata6 A T 4: 111,642,003 (GRCm39) H291L possibly damaging Het
Stra8 T C 6: 34,907,289 (GRCm39) probably benign Het
Taldo1 T C 7: 140,982,647 (GRCm39) probably benign Het
Tmco6 T C 18: 36,868,219 (GRCm39) probably benign Het
Tpr A T 1: 150,311,493 (GRCm39) Q1757L probably damaging Het
Ubn1 T C 16: 4,899,754 (GRCm39) probably benign Het
Vmn2r83 T C 10: 79,327,534 (GRCm39) V714A possibly damaging Het
Zfp407 G T 18: 84,577,165 (GRCm39) A1316D probably benign Het
Zzef1 T A 11: 72,803,938 (GRCm39) I2560N probably damaging 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
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