Incidental Mutation 'IGL03168:Tpr'
ID 411736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpr
Ensembl Gene ENSMUSG00000006005
Gene Name translocated promoter region, nuclear basket protein
Synonyms 2610029M07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03168
Quality Score
Status
Chromosome 1
Chromosomal Location 150268589-150325686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 150284508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 324 (I324M)
Ref Sequence ENSEMBL: ENSMUSP00000112606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119161] [ENSMUST00000124973]
AlphaFold F6ZDS4
Predicted Effect probably benign
Transcript: ENSMUST00000119161
AA Change: I324M

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112606
Gene: ENSMUSG00000006005
AA Change: I324M

DomainStartEndE-ValueType
coiled coil region 49 370 N/A INTRINSIC
coiled coil region 423 515 N/A INTRINSIC
low complexity region 518 534 N/A INTRINSIC
coiled coil region 539 604 N/A INTRINSIC
low complexity region 690 703 N/A INTRINSIC
low complexity region 782 795 N/A INTRINSIC
low complexity region 811 826 N/A INTRINSIC
low complexity region 1003 1019 N/A INTRINSIC
Pfam:TPR_MLP1_2 1036 1167 9.1e-33 PFAM
coiled coil region 1215 1421 N/A INTRINSIC
coiled coil region 1473 1629 N/A INTRINSIC
internal_repeat_3 1630 1691 1.48e-5 PROSPERO
low complexity region 1695 1717 N/A INTRINSIC
low complexity region 1761 1777 N/A INTRINSIC
internal_repeat_5 1814 1827 5.58e-5 PROSPERO
internal_repeat_3 1819 1881 1.48e-5 PROSPERO
internal_repeat_4 1875 1895 5.58e-5 PROSPERO
internal_repeat_1 1893 1919 2.03e-6 PROSPERO
low complexity region 1920 1933 N/A INTRINSIC
low complexity region 1942 1981 N/A INTRINSIC
low complexity region 1989 2014 N/A INTRINSIC
internal_repeat_4 2017 2036 5.58e-5 PROSPERO
low complexity region 2059 2078 N/A INTRINSIC
internal_repeat_2 2084 2135 3.95e-6 PROSPERO
internal_repeat_5 2127 2140 5.58e-5 PROSPERO
internal_repeat_1 2154 2179 2.03e-6 PROSPERO
internal_repeat_2 2156 2212 3.95e-6 PROSPERO
low complexity region 2239 2251 N/A INTRINSIC
low complexity region 2263 2277 N/A INTRINSIC
low complexity region 2292 2314 N/A INTRINSIC
low complexity region 2346 2357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124973
AA Change: I398M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000117616
Gene: ENSMUSG00000006005
AA Change: I398M

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
low complexity region 24 77 N/A INTRINSIC
coiled coil region 123 444 N/A INTRINSIC
coiled coil region 497 589 N/A INTRINSIC
low complexity region 592 608 N/A INTRINSIC
coiled coil region 613 678 N/A INTRINSIC
low complexity region 764 777 N/A INTRINSIC
low complexity region 856 869 N/A INTRINSIC
low complexity region 885 900 N/A INTRINSIC
low complexity region 1077 1093 N/A INTRINSIC
Pfam:TPR_MLP1_2 1112 1240 5.1e-37 PFAM
coiled coil region 1289 1495 N/A INTRINSIC
low complexity region 1682 1698 N/A INTRINSIC
internal_repeat_5 1703 1750 8.04e-5 PROSPERO
internal_repeat_3 1704 1765 1.07e-5 PROSPERO
low complexity region 1769 1791 N/A INTRINSIC
low complexity region 1835 1851 N/A INTRINSIC
internal_repeat_5 1857 1900 8.04e-5 PROSPERO
internal_repeat_6 1887 1911 8.04e-5 PROSPERO
internal_repeat_3 1893 1955 1.07e-5 PROSPERO
internal_repeat_4 1949 1969 4.1e-5 PROSPERO
internal_repeat_1 1967 1993 1.42e-6 PROSPERO
low complexity region 1994 2007 N/A INTRINSIC
low complexity region 2016 2055 N/A INTRINSIC
low complexity region 2063 2088 N/A INTRINSIC
internal_repeat_4 2091 2110 4.1e-5 PROSPERO
internal_repeat_6 2108 2132 8.04e-5 PROSPERO
low complexity region 2133 2152 N/A INTRINSIC
internal_repeat_2 2158 2209 2.78e-6 PROSPERO
internal_repeat_1 2228 2253 1.42e-6 PROSPERO
internal_repeat_2 2230 2286 2.78e-6 PROSPERO
low complexity region 2313 2325 N/A INTRINSIC
low complexity region 2337 2351 N/A INTRINSIC
low complexity region 2366 2388 N/A INTRINSIC
low complexity region 2420 2431 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141827
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(28) : Targeted, other(2) Gene trapped(26)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,486,280 (GRCm39) V29A probably benign Het
Ankk1 C A 9: 49,327,068 (GRCm39) A704S possibly damaging Het
Aph1c G A 9: 66,740,619 (GRCm39) probably benign Het
Arglu1 T A 8: 8,733,960 (GRCm39) I119L probably benign Het
Brwd1 A T 16: 95,818,877 (GRCm39) S1318R possibly damaging Het
Calhm4 C T 10: 33,917,552 (GRCm39) V300I probably benign Het
Chd3 A G 11: 69,239,741 (GRCm39) probably benign Het
Colq T C 14: 31,246,377 (GRCm39) Y445C probably damaging Het
Cyp2a4 A T 7: 26,012,975 (GRCm39) probably benign Het
Cyp2j7 C T 4: 96,118,274 (GRCm39) M106I probably benign Het
Erfe T G 1: 91,299,164 (GRCm39) N302K probably damaging Het
Fggy A T 4: 95,815,046 (GRCm39) probably benign Het
Gata3 A G 2: 9,873,625 (GRCm39) Y290H probably damaging Het
Grik4 T C 9: 42,582,539 (GRCm39) T136A probably damaging Het
Hc G T 2: 34,914,210 (GRCm39) N832K probably benign Het
Jhy A T 9: 40,828,848 (GRCm39) S353T possibly damaging Het
Krt40 T A 11: 99,433,854 (GRCm39) Q44L possibly damaging Het
Ksr2 T C 5: 117,886,846 (GRCm39) F794S probably damaging Het
Or2l13 A T 16: 19,305,969 (GRCm39) H127L probably benign Het
Or2n1e A C 17: 38,585,682 (GRCm39) S7R probably damaging Het
Or4p7 A G 2: 88,221,938 (GRCm39) M116V probably damaging Het
Or5ac16 A G 16: 59,022,610 (GRCm39) Y60H probably damaging Het
Or5t9 A G 2: 86,659,607 (GRCm39) I170M possibly damaging Het
Or8b1c A G 9: 38,384,315 (GRCm39) T91A probably benign Het
Pcdhb17 A G 18: 37,618,825 (GRCm39) E205G probably benign Het
Pon3 A T 6: 5,256,177 (GRCm39) I17K possibly damaging Het
Prkd2 A G 7: 16,584,188 (GRCm39) D347G possibly damaging Het
Prkdc A G 16: 15,652,030 (GRCm39) I3806V probably benign Het
Qpct C A 17: 79,359,753 (GRCm39) A20E unknown Het
Rap1a A G 3: 105,657,587 (GRCm39) S11P probably damaging Het
Rnf145 C A 11: 44,445,985 (GRCm39) T273K probably damaging Het
Speg T C 1: 75,364,831 (GRCm39) I298T probably damaging Het
Syt6 G A 3: 103,494,943 (GRCm39) V303M probably damaging Het
Uggt2 A G 14: 119,315,080 (GRCm39) F330L probably damaging Het
Unc45a A T 7: 79,982,881 (GRCm39) L348Q probably damaging Het
Vmn1r17 T A 6: 57,337,583 (GRCm39) I212F probably benign Het
Vmn2r68 A C 7: 84,870,972 (GRCm39) N770K probably damaging Het
Zfhx3 T C 8: 109,673,132 (GRCm39) V1394A probably damaging Het
Other mutations in Tpr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Tpr APN 1 150,299,447 (GRCm39) splice site probably benign
IGL00424:Tpr APN 1 150,274,346 (GRCm39) splice site probably benign
IGL01095:Tpr APN 1 150,285,891 (GRCm39) missense possibly damaging 0.95
IGL01347:Tpr APN 1 150,302,738 (GRCm39) missense probably damaging 1.00
IGL01519:Tpr APN 1 150,306,919 (GRCm39) missense probably benign 0.01
IGL01768:Tpr APN 1 150,320,199 (GRCm39) missense possibly damaging 0.85
IGL01939:Tpr APN 1 150,289,496 (GRCm39) missense possibly damaging 0.82
IGL01988:Tpr APN 1 150,302,750 (GRCm39) splice site probably null
IGL02065:Tpr APN 1 150,289,525 (GRCm39) missense probably benign 0.13
IGL02110:Tpr APN 1 150,311,493 (GRCm39) missense probably damaging 0.97
IGL02311:Tpr APN 1 150,274,404 (GRCm39) missense probably damaging 0.97
IGL02454:Tpr APN 1 150,306,943 (GRCm39) missense probably benign 0.00
IGL02569:Tpr APN 1 150,301,382 (GRCm39) unclassified probably benign
IGL03193:Tpr APN 1 150,315,831 (GRCm39) missense possibly damaging 0.85
IGL03333:Tpr APN 1 150,302,718 (GRCm39) missense probably benign 0.04
gridiron UTSW 1 150,299,267 (GRCm39) missense probably damaging 1.00
Pouch UTSW 1 150,309,523 (GRCm39) missense probably damaging 1.00
punt UTSW 1 150,293,790 (GRCm39) missense probably benign 0.02
Turf UTSW 1 150,317,996 (GRCm39) critical splice donor site probably null
F6893:Tpr UTSW 1 150,269,313 (GRCm39) missense possibly damaging 0.84
PIT4305001:Tpr UTSW 1 150,315,888 (GRCm39) missense possibly damaging 0.85
PIT4469001:Tpr UTSW 1 150,279,707 (GRCm39) missense probably benign 0.41
R0085:Tpr UTSW 1 150,293,164 (GRCm39) missense possibly damaging 0.95
R0101:Tpr UTSW 1 150,285,053 (GRCm39) splice site probably benign
R0116:Tpr UTSW 1 150,285,898 (GRCm39) missense probably damaging 0.98
R0136:Tpr UTSW 1 150,306,346 (GRCm39) missense probably benign 0.01
R0207:Tpr UTSW 1 150,293,178 (GRCm39) missense possibly damaging 0.74
R0219:Tpr UTSW 1 150,319,009 (GRCm39) splice site probably null
R0380:Tpr UTSW 1 150,288,698 (GRCm39) missense probably benign 0.27
R0403:Tpr UTSW 1 150,283,165 (GRCm39) splice site probably benign
R0469:Tpr UTSW 1 150,299,418 (GRCm39) frame shift probably null
R0480:Tpr UTSW 1 150,303,992 (GRCm39) missense possibly damaging 0.83
R0514:Tpr UTSW 1 150,278,024 (GRCm39) missense possibly damaging 0.55
R0563:Tpr UTSW 1 150,284,609 (GRCm39) missense probably benign 0.13
R0631:Tpr UTSW 1 150,298,282 (GRCm39) missense probably damaging 0.98
R0685:Tpr UTSW 1 150,309,476 (GRCm39) missense possibly damaging 0.69
R0730:Tpr UTSW 1 150,269,158 (GRCm39) utr 5 prime probably benign
R0739:Tpr UTSW 1 150,283,248 (GRCm39) missense possibly damaging 0.94
R0780:Tpr UTSW 1 150,307,092 (GRCm39) missense probably benign 0.00
R1018:Tpr UTSW 1 150,317,934 (GRCm39) missense possibly damaging 0.53
R1084:Tpr UTSW 1 150,317,912 (GRCm39) missense probably benign 0.18
R1532:Tpr UTSW 1 150,293,751 (GRCm39) missense probably damaging 0.99
R1551:Tpr UTSW 1 150,312,552 (GRCm39) missense probably benign 0.00
R1608:Tpr UTSW 1 150,302,644 (GRCm39) missense probably damaging 0.96
R1759:Tpr UTSW 1 150,305,275 (GRCm39) missense probably benign 0.19
R1817:Tpr UTSW 1 150,295,654 (GRCm39) missense probably damaging 0.98
R1932:Tpr UTSW 1 150,297,414 (GRCm39) missense probably benign 0.00
R1978:Tpr UTSW 1 150,295,658 (GRCm39) missense possibly damaging 0.65
R2031:Tpr UTSW 1 150,317,870 (GRCm39) missense probably benign
R2176:Tpr UTSW 1 150,295,691 (GRCm39) missense possibly damaging 0.56
R2235:Tpr UTSW 1 150,317,843 (GRCm39) missense probably benign 0.33
R2339:Tpr UTSW 1 150,289,525 (GRCm39) missense probably benign 0.01
R2367:Tpr UTSW 1 150,309,479 (GRCm39) missense probably damaging 0.99
R2507:Tpr UTSW 1 150,268,695 (GRCm39) start codon destroyed probably null
R3931:Tpr UTSW 1 150,311,655 (GRCm39) missense probably damaging 1.00
R4320:Tpr UTSW 1 150,299,325 (GRCm39) missense possibly damaging 0.96
R4439:Tpr UTSW 1 150,279,712 (GRCm39) missense probably benign 0.01
R4568:Tpr UTSW 1 150,268,710 (GRCm39) unclassified probably benign
R4644:Tpr UTSW 1 150,299,250 (GRCm39) missense probably benign 0.01
R4665:Tpr UTSW 1 150,320,150 (GRCm39) missense probably damaging 0.97
R4672:Tpr UTSW 1 150,299,318 (GRCm39) missense probably benign 0.45
R4673:Tpr UTSW 1 150,299,318 (GRCm39) missense probably benign 0.45
R4735:Tpr UTSW 1 150,317,947 (GRCm39) missense possibly damaging 0.91
R4767:Tpr UTSW 1 150,306,280 (GRCm39) intron probably benign
R4772:Tpr UTSW 1 150,288,864 (GRCm39) missense possibly damaging 0.46
R4815:Tpr UTSW 1 150,274,359 (GRCm39) missense probably benign 0.01
R4839:Tpr UTSW 1 150,324,948 (GRCm39) nonsense probably null
R4844:Tpr UTSW 1 150,321,630 (GRCm39) missense possibly damaging 0.86
R4925:Tpr UTSW 1 150,308,316 (GRCm39) missense probably benign 0.00
R4967:Tpr UTSW 1 150,285,810 (GRCm39) missense probably damaging 0.99
R5017:Tpr UTSW 1 150,274,388 (GRCm39) missense probably benign 0.00
R5096:Tpr UTSW 1 150,321,953 (GRCm39) missense probably damaging 0.99
R5353:Tpr UTSW 1 150,321,675 (GRCm39) missense probably damaging 1.00
R5354:Tpr UTSW 1 150,321,675 (GRCm39) missense probably damaging 1.00
R5484:Tpr UTSW 1 150,302,639 (GRCm39) missense probably benign 0.33
R5601:Tpr UTSW 1 150,311,604 (GRCm39) missense possibly damaging 0.75
R5642:Tpr UTSW 1 150,299,569 (GRCm39) missense probably damaging 0.99
R5779:Tpr UTSW 1 150,299,292 (GRCm39) missense probably damaging 1.00
R5787:Tpr UTSW 1 150,271,037 (GRCm39) missense probably benign 0.01
R5892:Tpr UTSW 1 150,283,151 (GRCm39) missense probably benign 0.44
R5915:Tpr UTSW 1 150,301,400 (GRCm39) missense probably benign 0.15
R5928:Tpr UTSW 1 150,303,878 (GRCm39) missense probably benign 0.30
R6146:Tpr UTSW 1 150,298,913 (GRCm39) missense possibly damaging 0.83
R6154:Tpr UTSW 1 150,299,567 (GRCm39) missense probably benign 0.00
R6234:Tpr UTSW 1 150,293,790 (GRCm39) missense probably benign 0.02
R6263:Tpr UTSW 1 150,317,996 (GRCm39) critical splice donor site probably null
R6318:Tpr UTSW 1 150,321,639 (GRCm39) missense possibly damaging 0.93
R6550:Tpr UTSW 1 150,299,728 (GRCm39) missense probably damaging 1.00
R6592:Tpr UTSW 1 150,287,656 (GRCm39) missense possibly damaging 0.83
R6704:Tpr UTSW 1 150,282,259 (GRCm39) missense possibly damaging 0.80
R6716:Tpr UTSW 1 150,290,516 (GRCm39) missense probably damaging 1.00
R6836:Tpr UTSW 1 150,312,424 (GRCm39) splice site probably null
R6886:Tpr UTSW 1 150,299,716 (GRCm39) missense probably benign 0.00
R6894:Tpr UTSW 1 150,312,598 (GRCm39) missense probably benign 0.28
R6928:Tpr UTSW 1 150,284,536 (GRCm39) missense possibly damaging 0.83
R7011:Tpr UTSW 1 150,309,523 (GRCm39) missense probably damaging 1.00
R7034:Tpr UTSW 1 150,299,358 (GRCm39) missense probably benign 0.02
R7036:Tpr UTSW 1 150,299,358 (GRCm39) missense probably benign 0.02
R7183:Tpr UTSW 1 150,282,302 (GRCm39) missense probably damaging 1.00
R7221:Tpr UTSW 1 150,321,929 (GRCm39) missense possibly damaging 0.96
R7223:Tpr UTSW 1 150,315,007 (GRCm39) missense possibly damaging 0.53
R7294:Tpr UTSW 1 150,279,638 (GRCm39) missense probably damaging 1.00
R7343:Tpr UTSW 1 150,269,245 (GRCm39) missense unknown
R7361:Tpr UTSW 1 150,323,372 (GRCm39) missense possibly damaging 0.73
R7405:Tpr UTSW 1 150,317,878 (GRCm39) missense probably benign 0.02
R7637:Tpr UTSW 1 150,299,267 (GRCm39) missense probably damaging 1.00
R7720:Tpr UTSW 1 150,305,283 (GRCm39) missense possibly damaging 0.49
R7721:Tpr UTSW 1 150,320,180 (GRCm39) missense probably benign
R7751:Tpr UTSW 1 150,295,646 (GRCm39) missense probably benign 0.17
R7804:Tpr UTSW 1 150,308,310 (GRCm39) missense probably damaging 0.99
R7878:Tpr UTSW 1 150,299,411 (GRCm39) missense possibly damaging 0.67
R7973:Tpr UTSW 1 150,279,638 (GRCm39) missense probably damaging 1.00
R8013:Tpr UTSW 1 150,274,359 (GRCm39) missense probably benign
R8220:Tpr UTSW 1 150,308,164 (GRCm39) missense probably benign 0.05
R8274:Tpr UTSW 1 150,299,230 (GRCm39) splice site probably benign
R8428:Tpr UTSW 1 150,290,564 (GRCm39) missense probably damaging 1.00
R8482:Tpr UTSW 1 150,309,451 (GRCm39) missense probably damaging 1.00
R8699:Tpr UTSW 1 150,293,772 (GRCm39) missense probably damaging 0.99
R8859:Tpr UTSW 1 150,284,597 (GRCm39) missense possibly damaging 0.90
R9119:Tpr UTSW 1 150,279,753 (GRCm39) missense probably damaging 0.99
R9326:Tpr UTSW 1 150,301,407 (GRCm39) missense possibly damaging 0.86
R9618:Tpr UTSW 1 150,321,979 (GRCm39) missense possibly damaging 0.70
R9680:Tpr UTSW 1 150,314,887 (GRCm39) missense probably benign 0.32
R9776:Tpr UTSW 1 150,324,939 (GRCm39) missense probably benign 0.00
X0021:Tpr UTSW 1 150,270,958 (GRCm39) missense probably damaging 1.00
Z1177:Tpr UTSW 1 150,303,986 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02