Incidental Mutation 'IGL00900:Ipo11'
ID |
28823 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ipo11
|
Ensembl Gene |
ENSMUSG00000042590 |
Gene Name |
importin 11 |
Synonyms |
Ranbp11, 1700081H05Rik, 2510001A17Rik, E330021B14Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00900
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
106930947-107073466 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106983952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 797
(M797V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080856]
[ENSMUST00000186033]
|
AlphaFold |
Q8K2V6 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000057427
|
SMART Domains |
Protein: ENSMUSP00000053644 Gene: ENSMUSG00000078933
Domain | Start | End | E-Value | Type |
transmembrane domain
|
99 |
116 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080856
AA Change: M788V
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000079667 Gene: ENSMUSG00000042590 AA Change: M788V
Domain | Start | End | E-Value | Type |
IBN_N
|
28 |
100 |
7.71e-12 |
SMART |
low complexity region
|
375 |
382 |
N/A |
INTRINSIC |
low complexity region
|
563 |
570 |
N/A |
INTRINSIC |
low complexity region
|
845 |
856 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185993
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186033
AA Change: M797V
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000140046 Gene: ENSMUSG00000042590 AA Change: M797V
Domain | Start | End | E-Value | Type |
IBN_N
|
28 |
100 |
7.71e-12 |
SMART |
low complexity region
|
375 |
382 |
N/A |
INTRINSIC |
low complexity region
|
563 |
570 |
N/A |
INTRINSIC |
low complexity region
|
854 |
865 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190794
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190801
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191363
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
C |
11: 84,361,383 (GRCm39) |
|
probably benign |
Het |
Agap3 |
G |
A |
5: 24,681,366 (GRCm39) |
|
probably benign |
Het |
Angptl2 |
A |
T |
2: 33,133,784 (GRCm39) |
M369L |
probably benign |
Het |
Arhgef11 |
A |
G |
3: 87,590,867 (GRCm39) |
D36G |
possibly damaging |
Het |
Ccnt1 |
A |
G |
15: 98,452,514 (GRCm39) |
V134A |
probably damaging |
Het |
Ces1e |
T |
C |
8: 93,944,245 (GRCm39) |
H191R |
probably damaging |
Het |
Dhh |
A |
G |
15: 98,796,101 (GRCm39) |
|
probably benign |
Het |
Edil3 |
C |
A |
13: 89,437,652 (GRCm39) |
H418N |
probably benign |
Het |
Fam161b |
T |
C |
12: 84,402,743 (GRCm39) |
I296V |
probably benign |
Het |
Focad |
T |
A |
4: 88,047,260 (GRCm39) |
N86K |
probably damaging |
Het |
Foxn1 |
C |
T |
11: 78,262,109 (GRCm39) |
G87S |
probably benign |
Het |
Glipr1l2 |
T |
C |
10: 111,933,887 (GRCm39) |
Y220H |
probably benign |
Het |
Hnrnpa1 |
A |
G |
15: 103,152,166 (GRCm39) |
|
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Itprid2 |
G |
A |
2: 79,490,822 (GRCm39) |
R980Q |
probably damaging |
Het |
Klhdc2 |
T |
A |
12: 69,350,308 (GRCm39) |
F118I |
probably benign |
Het |
Mtap |
T |
A |
4: 89,090,594 (GRCm39) |
Y221* |
probably null |
Het |
Myh2 |
T |
C |
11: 67,070,210 (GRCm39) |
V414A |
probably damaging |
Het |
Ncor2 |
A |
T |
5: 125,102,848 (GRCm39) |
Y1999N |
probably damaging |
Het |
Or5d39 |
A |
G |
2: 87,979,604 (GRCm39) |
F253S |
possibly damaging |
Het |
Oxsm |
A |
G |
14: 16,242,023 (GRCm38) |
S249P |
probably damaging |
Het |
Pabpc4l |
T |
A |
3: 46,401,507 (GRCm39) |
I46F |
possibly damaging |
Het |
Pcnx2 |
A |
G |
8: 126,589,975 (GRCm39) |
|
probably benign |
Het |
Rasal2 |
A |
G |
1: 157,239,499 (GRCm39) |
S4P |
possibly damaging |
Het |
Reln |
A |
G |
5: 22,185,115 (GRCm39) |
V1534A |
probably damaging |
Het |
Rnf138 |
T |
A |
18: 21,154,017 (GRCm39) |
D174E |
possibly damaging |
Het |
Sh3pxd2a |
T |
A |
19: 47,302,594 (GRCm39) |
N162Y |
probably benign |
Het |
Slc6a4 |
A |
T |
11: 76,914,006 (GRCm39) |
T519S |
probably benign |
Het |
Slfn9 |
A |
T |
11: 82,872,197 (GRCm39) |
C846* |
probably null |
Het |
Trip12 |
A |
G |
1: 84,702,485 (GRCm39) |
S1945P |
possibly damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,134,394 (GRCm39) |
F69L |
probably benign |
Het |
Zeb2 |
T |
C |
2: 44,887,287 (GRCm39) |
D545G |
probably damaging |
Het |
|
Other mutations in Ipo11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00693:Ipo11
|
APN |
13 |
107,033,768 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00971:Ipo11
|
APN |
13 |
106,993,277 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01023:Ipo11
|
APN |
13 |
107,033,767 (GRCm39) |
missense |
probably benign |
0.44 |
IGL01331:Ipo11
|
APN |
13 |
106,932,254 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01608:Ipo11
|
APN |
13 |
106,971,002 (GRCm39) |
intron |
probably benign |
|
IGL02021:Ipo11
|
APN |
13 |
106,993,745 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02620:Ipo11
|
APN |
13 |
107,012,789 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02651:Ipo11
|
APN |
13 |
107,012,114 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02699:Ipo11
|
APN |
13 |
107,025,905 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02928:Ipo11
|
APN |
13 |
107,025,863 (GRCm39) |
splice site |
probably benign |
|
R0017:Ipo11
|
UTSW |
13 |
107,023,238 (GRCm39) |
missense |
probably benign |
0.00 |
R0017:Ipo11
|
UTSW |
13 |
107,023,238 (GRCm39) |
missense |
probably benign |
0.00 |
R0032:Ipo11
|
UTSW |
13 |
106,970,971 (GRCm39) |
intron |
probably benign |
|
R0164:Ipo11
|
UTSW |
13 |
107,046,702 (GRCm39) |
splice site |
probably benign |
|
R0333:Ipo11
|
UTSW |
13 |
107,007,271 (GRCm39) |
missense |
probably benign |
0.00 |
R0499:Ipo11
|
UTSW |
13 |
107,061,595 (GRCm39) |
missense |
probably benign |
0.00 |
R0555:Ipo11
|
UTSW |
13 |
107,028,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R0718:Ipo11
|
UTSW |
13 |
107,056,119 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0899:Ipo11
|
UTSW |
13 |
107,037,324 (GRCm39) |
nonsense |
probably null |
|
R1590:Ipo11
|
UTSW |
13 |
107,023,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R1700:Ipo11
|
UTSW |
13 |
106,932,170 (GRCm39) |
missense |
probably benign |
|
R1851:Ipo11
|
UTSW |
13 |
106,948,765 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1852:Ipo11
|
UTSW |
13 |
106,948,765 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1853:Ipo11
|
UTSW |
13 |
106,997,395 (GRCm39) |
missense |
probably benign |
0.19 |
R2012:Ipo11
|
UTSW |
13 |
107,056,130 (GRCm39) |
missense |
probably benign |
0.01 |
R2168:Ipo11
|
UTSW |
13 |
107,016,118 (GRCm39) |
splice site |
probably null |
|
R2183:Ipo11
|
UTSW |
13 |
107,061,595 (GRCm39) |
missense |
probably benign |
0.00 |
R4254:Ipo11
|
UTSW |
13 |
107,029,017 (GRCm39) |
missense |
probably benign |
0.00 |
R4607:Ipo11
|
UTSW |
13 |
107,037,319 (GRCm39) |
missense |
probably damaging |
0.98 |
R4610:Ipo11
|
UTSW |
13 |
107,016,245 (GRCm39) |
missense |
probably benign |
0.06 |
R4654:Ipo11
|
UTSW |
13 |
106,970,692 (GRCm39) |
intron |
probably benign |
|
R4792:Ipo11
|
UTSW |
13 |
106,970,668 (GRCm39) |
intron |
probably benign |
|
R4990:Ipo11
|
UTSW |
13 |
106,997,395 (GRCm39) |
missense |
probably benign |
0.19 |
R5309:Ipo11
|
UTSW |
13 |
106,970,481 (GRCm39) |
intron |
probably benign |
|
R5580:Ipo11
|
UTSW |
13 |
107,037,255 (GRCm39) |
missense |
probably benign |
|
R5822:Ipo11
|
UTSW |
13 |
106,984,926 (GRCm39) |
unclassified |
probably benign |
|
R6459:Ipo11
|
UTSW |
13 |
107,002,277 (GRCm39) |
splice site |
probably null |
|
R6597:Ipo11
|
UTSW |
13 |
107,002,371 (GRCm39) |
critical splice donor site |
probably null |
|
R6803:Ipo11
|
UTSW |
13 |
106,993,766 (GRCm39) |
missense |
probably benign |
|
R6882:Ipo11
|
UTSW |
13 |
107,037,190 (GRCm39) |
splice site |
probably null |
|
R7071:Ipo11
|
UTSW |
13 |
107,061,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R7202:Ipo11
|
UTSW |
13 |
107,012,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R7214:Ipo11
|
UTSW |
13 |
107,032,365 (GRCm39) |
missense |
probably null |
|
R7221:Ipo11
|
UTSW |
13 |
107,029,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R7392:Ipo11
|
UTSW |
13 |
107,028,199 (GRCm39) |
nonsense |
probably null |
|
R7871:Ipo11
|
UTSW |
13 |
107,028,976 (GRCm39) |
missense |
probably benign |
0.01 |
R8189:Ipo11
|
UTSW |
13 |
107,061,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R8426:Ipo11
|
UTSW |
13 |
106,978,678 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8951:Ipo11
|
UTSW |
13 |
106,978,690 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8981:Ipo11
|
UTSW |
13 |
107,061,633 (GRCm39) |
missense |
probably benign |
0.18 |
R9272:Ipo11
|
UTSW |
13 |
107,046,713 (GRCm39) |
missense |
probably benign |
0.00 |
R9765:Ipo11
|
UTSW |
13 |
107,061,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |