Incidental Mutation 'R4990:Ipo11'
ID |
386157 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipo11
|
Ensembl Gene |
ENSMUSG00000042590 |
Gene Name |
importin 11 |
Synonyms |
Ranbp11, 1700081H05Rik, 2510001A17Rik, E330021B14Rik |
MMRRC Submission |
042584-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4990 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
106930947-107073466 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106997395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 688
(I688K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080856]
[ENSMUST00000186033]
|
AlphaFold |
Q8K2V6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080856
AA Change: I688K
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000079667 Gene: ENSMUSG00000042590 AA Change: I688K
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 benign
Transcript: ENSMUST00000186033
AA Change: I688K
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000140046 Gene: ENSMUSG00000042590 AA Change: I688K
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,334,098 (GRCm39) |
I1135V |
possibly damaging |
Het |
Abca14 |
G |
A |
7: 119,911,388 (GRCm39) |
R1324K |
probably benign |
Het |
Amer3 |
A |
C |
1: 34,627,822 (GRCm39) |
D687A |
probably benign |
Het |
Aplnr |
G |
A |
2: 84,967,721 (GRCm39) |
V249M |
probably damaging |
Het |
Atg16l1 |
A |
G |
1: 87,717,091 (GRCm39) |
K471R |
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,568,886 (GRCm39) |
|
probably null |
Het |
Catspere2 |
A |
C |
1: 177,925,987 (GRCm39) |
I218L |
probably benign |
Het |
Ccdc152 |
A |
G |
15: 3,330,639 (GRCm39) |
I12T |
probably benign |
Het |
Cds1 |
A |
G |
5: 101,946,245 (GRCm39) |
Y148C |
probably damaging |
Het |
Cenpe |
T |
A |
3: 134,962,401 (GRCm39) |
L1989Q |
probably damaging |
Het |
Cep295 |
T |
C |
9: 15,243,434 (GRCm39) |
Q1674R |
probably damaging |
Het |
D930020B18Rik |
C |
G |
10: 121,490,666 (GRCm39) |
P89A |
probably damaging |
Het |
D930020B18Rik |
C |
T |
10: 121,490,667 (GRCm39) |
P89L |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,586,078 (GRCm39) |
M535V |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,626,715 (GRCm39) |
V398A |
probably benign |
Het |
Elmo1 |
T |
C |
13: 20,526,689 (GRCm39) |
F413S |
probably damaging |
Het |
Emb |
T |
A |
13: 117,401,046 (GRCm39) |
N198K |
probably damaging |
Het |
Eno3 |
A |
G |
11: 70,549,473 (GRCm39) |
D98G |
probably damaging |
Het |
Fbp1 |
C |
T |
13: 63,012,888 (GRCm39) |
V102I |
probably benign |
Het |
Fbxw18 |
T |
C |
9: 109,517,461 (GRCm39) |
E414G |
probably damaging |
Het |
Grem2 |
A |
G |
1: 174,664,379 (GRCm39) |
C157R |
probably damaging |
Het |
Hnrnpr |
G |
A |
4: 136,063,609 (GRCm39) |
V239I |
probably damaging |
Het |
Hnrnpr |
A |
G |
4: 136,056,690 (GRCm39) |
E230G |
probably damaging |
Het |
Irx4 |
G |
T |
13: 73,413,626 (GRCm39) |
R32L |
probably benign |
Het |
Kcnh7 |
T |
C |
2: 62,564,632 (GRCm39) |
N876D |
probably benign |
Het |
Klk1b26 |
T |
A |
7: 43,665,673 (GRCm39) |
|
probably null |
Het |
Lrp2 |
G |
T |
2: 69,311,732 (GRCm39) |
T2582K |
probably benign |
Het |
Lrriq1 |
A |
G |
10: 103,036,420 (GRCm39) |
I911T |
probably damaging |
Het |
Megf6 |
A |
G |
4: 154,351,683 (GRCm39) |
E1132G |
possibly damaging |
Het |
Mesp1 |
A |
G |
7: 79,442,669 (GRCm39) |
Y203H |
probably damaging |
Het |
Ms4a4a |
T |
C |
19: 11,356,201 (GRCm39) |
S29P |
probably benign |
Het |
Nbeal2 |
A |
C |
9: 110,463,871 (GRCm39) |
C1174G |
probably benign |
Het |
Neb |
C |
T |
2: 52,145,558 (GRCm39) |
V2989I |
probably benign |
Het |
Nkx2-1 |
T |
C |
12: 56,581,724 (GRCm39) |
Y41C |
possibly damaging |
Het |
Nrxn3 |
T |
A |
12: 89,227,244 (GRCm39) |
I293N |
probably damaging |
Het |
Nt5e |
A |
G |
9: 88,237,646 (GRCm39) |
N192S |
probably benign |
Het |
Ntng1 |
A |
T |
3: 110,042,577 (GRCm39) |
|
probably null |
Het |
Or13a17 |
G |
A |
7: 140,271,360 (GRCm39) |
E181K |
probably damaging |
Het |
Or3a1d |
A |
G |
11: 74,238,023 (GRCm39) |
I129T |
probably damaging |
Het |
Or4c110 |
A |
T |
2: 88,831,816 (GRCm39) |
I272K |
probably damaging |
Het |
Or4c15b |
A |
T |
2: 89,113,671 (GRCm39) |
|
probably null |
Het |
Panx1 |
A |
G |
9: 14,921,513 (GRCm39) |
Y121H |
probably damaging |
Het |
Pcsk4 |
A |
G |
10: 80,161,215 (GRCm39) |
I233T |
possibly damaging |
Het |
Pgm3 |
T |
A |
9: 86,440,465 (GRCm39) |
I409F |
probably damaging |
Het |
Plg |
T |
C |
17: 12,630,397 (GRCm39) |
Y645H |
probably benign |
Het |
Pon3 |
T |
C |
6: 5,221,619 (GRCm39) |
H337R |
probably benign |
Het |
Rasa2 |
A |
G |
9: 96,474,042 (GRCm39) |
I162T |
probably benign |
Het |
Ror1 |
A |
G |
4: 100,299,161 (GRCm39) |
I845V |
probably benign |
Het |
Rpl4 |
T |
C |
9: 64,082,167 (GRCm39) |
V22A |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,740,318 (GRCm39) |
N531S |
probably damaging |
Het |
Ryr3 |
G |
T |
2: 112,466,122 (GRCm39) |
Q4746K |
probably damaging |
Het |
Sbno1 |
A |
T |
5: 124,538,228 (GRCm39) |
F571I |
probably damaging |
Het |
Scarf1 |
T |
C |
11: 75,416,841 (GRCm39) |
V761A |
probably benign |
Het |
Sec22b |
T |
G |
3: 97,828,427 (GRCm39) |
|
probably null |
Het |
Slc45a2 |
A |
G |
15: 11,001,236 (GRCm39) |
M112V |
probably benign |
Het |
Snai3 |
G |
A |
8: 123,183,071 (GRCm39) |
T158M |
possibly damaging |
Het |
Spata31d1a |
T |
C |
13: 59,850,965 (GRCm39) |
N388D |
probably benign |
Het |
Speer1e |
A |
T |
5: 11,236,381 (GRCm39) |
E138V |
probably damaging |
Het |
Sv2b |
T |
C |
7: 74,767,470 (GRCm39) |
N642S |
possibly damaging |
Het |
Svil |
T |
A |
18: 5,056,810 (GRCm39) |
I561K |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,943,930 (GRCm39) |
D1127E |
probably benign |
Het |
Triobp |
C |
A |
15: 78,851,205 (GRCm39) |
A453D |
probably benign |
Het |
Tubd1 |
T |
C |
11: 86,448,665 (GRCm39) |
L295P |
probably damaging |
Het |
Ulk4 |
C |
T |
9: 121,021,852 (GRCm39) |
V620I |
probably benign |
Het |
Vmn2r39 |
A |
G |
7: 9,026,675 (GRCm39) |
I442T |
probably benign |
Het |
Wwc1 |
T |
C |
11: 35,767,393 (GRCm39) |
T413A |
probably benign |
Het |
Zfp131 |
A |
C |
13: 120,244,449 (GRCm39) |
V77G |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,334,607 (GRCm39) |
D137G |
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 |
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 |
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 |
|
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'- CCTTAGGGAAAGTTCAAGCTCAAC -3'
(R):5'- ACCTTCTTGGCAGGCACTTTAC -3'
Sequencing Primer
(F):5'- GGGAAAGTTCAAGCTCAACTCTAATG -3'
(R):5'- GGCAGGCACTTTACATACTTTC -3'
|
Posted On |
2016-05-10 |