Incidental Mutation 'IGL02651:Ipo11'
ID |
302152 |
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 # |
IGL02651
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
106930947-107073466 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107012114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 556
(Y556C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080856]
[ENSMUST00000186033]
|
AlphaFold |
Q8K2V6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080856
AA Change: Y556C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079667 Gene: ENSMUSG00000042590 AA Change: Y556C
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: ENSMUST00000186005
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186033
AA Change: Y556C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140046 Gene: ENSMUSG00000042590 AA Change: Y556C
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 |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
G |
A |
19: 31,909,906 (GRCm39) |
G233S |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,283,990 (GRCm39) |
C1202S |
probably benign |
Het |
Acaca |
C |
T |
11: 84,136,030 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,613,529 (GRCm39) |
F676Y |
probably damaging |
Het |
Arhgef11 |
C |
A |
3: 87,606,171 (GRCm39) |
Q309K |
probably damaging |
Het |
Asgr1 |
T |
C |
11: 69,947,956 (GRCm39) |
Y80H |
possibly damaging |
Het |
Atp13a5 |
A |
T |
16: 29,152,909 (GRCm39) |
|
probably benign |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Atp8b2 |
A |
C |
3: 89,861,896 (GRCm39) |
|
probably null |
Het |
Btnl2 |
A |
G |
17: 34,575,196 (GRCm39) |
M1V |
probably null |
Het |
Cpsf3 |
T |
A |
12: 21,343,298 (GRCm39) |
M121K |
probably damaging |
Het |
Creb3l3 |
A |
G |
10: 80,920,668 (GRCm39) |
I454T |
probably benign |
Het |
Cyp2d12 |
A |
G |
15: 82,440,941 (GRCm39) |
E153G |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,350,768 (GRCm39) |
I2597V |
probably benign |
Het |
Ercc5 |
C |
A |
1: 44,196,104 (GRCm39) |
S32R |
probably damaging |
Het |
Fchsd2 |
T |
A |
7: 100,926,807 (GRCm39) |
N656K |
possibly damaging |
Het |
Fga |
G |
A |
3: 82,935,841 (GRCm39) |
E23K |
probably benign |
Het |
Fn1 |
T |
C |
1: 71,636,835 (GRCm39) |
T1925A |
possibly damaging |
Het |
Fstl5 |
A |
T |
3: 76,500,841 (GRCm39) |
E423D |
probably damaging |
Het |
Glg1 |
C |
T |
8: 111,887,359 (GRCm39) |
M465I |
possibly damaging |
Het |
H2-M10.4 |
C |
A |
17: 36,771,548 (GRCm39) |
R210L |
probably benign |
Het |
Hbb-y |
T |
G |
7: 103,501,957 (GRCm39) |
K105Q |
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,284,756 (GRCm39) |
|
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,325,372 (GRCm39) |
M1322V |
probably damaging |
Het |
Jhy |
A |
G |
9: 40,828,631 (GRCm39) |
L425P |
probably damaging |
Het |
Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
Ms4a6c |
A |
T |
19: 11,455,669 (GRCm39) |
E159D |
possibly damaging |
Het |
Msh6 |
A |
T |
17: 88,296,943 (GRCm39) |
L1213F |
probably damaging |
Het |
Npy1r |
A |
C |
8: 67,157,675 (GRCm39) |
R328S |
possibly damaging |
Het |
Or4a74 |
A |
T |
2: 89,439,842 (GRCm39) |
N201K |
possibly damaging |
Het |
Or5ak20 |
A |
C |
2: 85,183,394 (GRCm39) |
L292R |
probably damaging |
Het |
Pcdhb18 |
T |
G |
18: 37,624,234 (GRCm39) |
Y521* |
probably null |
Het |
Pkhd1l1 |
A |
T |
15: 44,347,210 (GRCm39) |
Y192F |
probably damaging |
Het |
Rdh12 |
T |
A |
12: 79,268,826 (GRCm39) |
I301N |
probably damaging |
Het |
Rptor |
T |
C |
11: 119,783,438 (GRCm39) |
V1144A |
possibly damaging |
Het |
Sap25 |
T |
C |
5: 137,640,632 (GRCm39) |
F171L |
possibly damaging |
Het |
Senp5 |
A |
G |
16: 31,808,897 (GRCm39) |
L92P |
probably benign |
Het |
Sfmbt1 |
T |
C |
14: 30,537,494 (GRCm39) |
S736P |
probably damaging |
Het |
Tacr1 |
T |
C |
6: 82,469,622 (GRCm39) |
S169P |
probably damaging |
Het |
Tbc1d21 |
A |
T |
9: 58,270,384 (GRCm39) |
Y130* |
probably null |
Het |
Tle2 |
G |
A |
10: 81,422,723 (GRCm39) |
G428D |
probably damaging |
Het |
Tmem117 |
T |
A |
15: 94,992,442 (GRCm39) |
N367K |
probably damaging |
Het |
Tmem210 |
A |
G |
2: 25,179,101 (GRCm39) |
T130A |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,680,368 (GRCm39) |
|
probably benign |
Het |
Ttyh1 |
T |
C |
7: 4,127,678 (GRCm39) |
L122P |
probably damaging |
Het |
Vmn2r60 |
T |
C |
7: 41,845,010 (GRCm39) |
F791S |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,891,129 (GRCm39) |
N575K |
probably benign |
Het |
Vps8 |
T |
C |
16: 21,336,086 (GRCm39) |
V746A |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,044,341 (GRCm39) |
M1888K |
probably benign |
Het |
Zfp595 |
T |
C |
13: 67,469,017 (GRCm39) |
D3G |
probably benign |
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 |
IGL00900:Ipo11
|
APN |
13 |
106,983,952 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
|
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 |
2015-04-16 |