Incidental Mutation 'R0899:Ipo11'
| ID |
83810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipo11
|
| Ensembl Gene |
ENSMUSG00000042590 |
| Gene Name |
importin 11 |
| Synonyms |
Ranbp11, 1700081H05Rik, 2510001A17Rik, E330021B14Rik |
| MMRRC Submission |
039059-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0899 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
106930947-107073466 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 107037324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 173
(L173*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080856]
[ENSMUST00000186033]
|
| AlphaFold |
Q8K2V6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000080856
AA Change: L173*
|
| SMART Domains |
Protein: ENSMUSP00000079667
Gene: ENSMUSG00000042590
AA Change: L173*
| 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 null
Transcript: ENSMUST00000186033
AA Change: L173*
|
| SMART Domains |
Protein: ENSMUSP00000140046
Gene: ENSMUSG00000042590
AA Change: L173*
| 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 |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 93.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
T |
C |
15: 84,833,459 (GRCm39) |
K442E |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,594,940 (GRCm39) |
R340* |
probably null |
Het |
| Afg3l2 |
T |
C |
18: 67,556,047 (GRCm39) |
N428S |
possibly damaging |
Het |
| Aqp12 |
G |
A |
1: 92,934,332 (GRCm39) |
D70N |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,338,679 (GRCm39) |
C475* |
probably null |
Het |
| Atp2b1 |
G |
A |
10: 98,852,893 (GRCm39) |
|
probably null |
Het |
| Cbln2 |
T |
C |
18: 86,734,877 (GRCm39) |
S217P |
possibly damaging |
Het |
| Ces2h |
T |
C |
8: 105,741,182 (GRCm39) |
L58P |
probably damaging |
Het |
| Cfap43 |
C |
T |
19: 47,736,433 (GRCm39) |
G1353R |
possibly damaging |
Het |
| Crcp |
A |
G |
5: 130,088,672 (GRCm39) |
M91V |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,367,139 (GRCm39) |
V1577A |
possibly damaging |
Het |
| Dthd1 |
A |
G |
5: 63,000,271 (GRCm39) |
H531R |
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam3d |
A |
G |
14: 8,364,863 (GRCm38) |
I16T |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,147,051 (GRCm39) |
G3982S |
probably damaging |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Fcnb |
T |
A |
2: 27,966,791 (GRCm39) |
K247N |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 88,976,152 (GRCm39) |
N5S |
|
Het |
| Htr3a |
T |
A |
9: 48,812,752 (GRCm39) |
D229V |
possibly damaging |
Het |
| Jam3 |
C |
A |
9: 27,010,253 (GRCm39) |
G244W |
probably damaging |
Het |
| Lypd11 |
C |
T |
7: 24,422,737 (GRCm39) |
R112H |
probably benign |
Het |
| Mrpl52 |
C |
T |
14: 54,664,541 (GRCm39) |
R12* |
probably null |
Het |
| Myo15a |
A |
G |
11: 60,368,011 (GRCm39) |
Y257C |
possibly damaging |
Het |
| Myocd |
G |
A |
11: 65,086,018 (GRCm39) |
P215L |
possibly damaging |
Het |
| Ndst1 |
T |
C |
18: 60,840,954 (GRCm39) |
T243A |
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,492,800 (GRCm39) |
T252S |
probably benign |
Het |
| Or5m13b |
A |
G |
2: 85,753,731 (GRCm39) |
T40A |
probably benign |
Het |
| Or6c75 |
T |
C |
10: 129,337,301 (GRCm39) |
F183L |
probably damaging |
Het |
| Or7g34 |
A |
C |
9: 19,477,843 (GRCm39) |
V276G |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,890,747 (GRCm39) |
S377G |
possibly damaging |
Het |
| Pfkl |
A |
G |
10: 77,841,273 (GRCm39) |
|
probably null |
Het |
| Prdm16 |
A |
T |
4: 154,613,366 (GRCm39) |
N20K |
probably damaging |
Het |
| Prkd1 |
A |
G |
12: 50,431,976 (GRCm39) |
I589T |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,516,938 (GRCm39) |
G525S |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,718,329 (GRCm39) |
|
probably benign |
Het |
| Wap |
T |
C |
11: 6,586,725 (GRCm39) |
T125A |
probably benign |
Het |
| Wdr86 |
C |
T |
5: 24,923,005 (GRCm39) |
R229Q |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGCAGATCAAGTTCAACAGTACCT -3'
(R):5'- TGTGGCATACTGAGTGATGGTCCATAA -3'
Sequencing Primer
(F):5'- CTTTTAACGATAGCAGTGTTCGC -3'
(R):5'- tccattacaaccattacaaccac -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation