Incidental Mutation 'R4607:Ipo11'
| ID |
346095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipo11
|
| Ensembl Gene |
ENSMUSG00000042590 |
| Gene Name |
importin 11 |
| Synonyms |
Ranbp11, 1700081H05Rik, 2510001A17Rik, E330021B14Rik |
| MMRRC Submission |
041818-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4607 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
106930947-107073466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107037319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 175
(S175P)
|
| 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: S175P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079667
Gene: ENSMUSG00000042590
AA Change: S175P
| 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: S175P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140046
Gene: ENSMUSG00000042590
AA Change: S175P
| 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 |
|
| Meta Mutation Damage Score |
0.2286 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (65/67) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
A |
10: 106,802,890 (GRCm39) |
I452F |
possibly damaging |
Het |
| Adgra3 |
A |
C |
5: 50,128,081 (GRCm39) |
V800G |
probably damaging |
Het |
| Aldh1a1 |
A |
T |
19: 20,599,051 (GRCm39) |
Y154F |
probably benign |
Het |
| Bbs10 |
T |
G |
10: 111,136,681 (GRCm39) |
I598S |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Ccnl1 |
C |
T |
3: 65,854,131 (GRCm39) |
|
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,134,078 (GRCm39) |
I310V |
possibly damaging |
Het |
| Cpeb3 |
A |
G |
19: 37,152,239 (GRCm39) |
S46P |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,650,475 (GRCm39) |
I151T |
possibly damaging |
Het |
| Dsg4 |
C |
T |
18: 20,604,302 (GRCm39) |
T923M |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,853,769 (GRCm39) |
R618L |
probably benign |
Het |
| Erlin1 |
C |
T |
19: 44,051,474 (GRCm39) |
V76M |
probably damaging |
Het |
| Fam161a |
G |
A |
11: 22,970,710 (GRCm39) |
S296N |
probably benign |
Het |
| Fam187b |
T |
A |
7: 30,677,170 (GRCm39) |
N226K |
probably benign |
Het |
| Fes |
G |
A |
7: 80,036,959 (GRCm39) |
R42W |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 52,993,728 (GRCm39) |
N374K |
possibly damaging |
Het |
| Fpgt |
G |
A |
3: 154,792,333 (GRCm39) |
Q565* |
probably null |
Het |
| Gm26657 |
C |
A |
4: 56,741,114 (GRCm39) |
H100N |
probably benign |
Het |
| Gna14 |
A |
G |
19: 16,511,075 (GRCm39) |
|
probably null |
Het |
| Gsg1l |
T |
A |
7: 125,557,721 (GRCm39) |
I136F |
probably damaging |
Het |
| Hhip |
C |
T |
8: 80,724,192 (GRCm39) |
R350Q |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,263,271 (GRCm39) |
R394Q |
probably damaging |
Het |
| Klk13 |
C |
A |
7: 43,363,284 (GRCm39) |
C10* |
probably null |
Het |
| Leng8 |
T |
A |
7: 4,147,796 (GRCm39) |
I607N |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,333,030 (GRCm39) |
L68P |
probably damaging |
Het |
| Memo1 |
G |
A |
17: 74,565,456 (GRCm39) |
Q36* |
probably null |
Het |
| Mink1 |
A |
G |
11: 70,496,893 (GRCm39) |
E417G |
possibly damaging |
Het |
| Myrf |
G |
T |
19: 10,206,431 (GRCm39) |
D29E |
probably damaging |
Het |
| Nelfcd |
T |
A |
2: 174,264,955 (GRCm39) |
D215E |
probably benign |
Het |
| Nostrin |
G |
A |
2: 69,014,243 (GRCm39) |
V400M |
possibly damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,920 (GRCm39) |
T546A |
probably benign |
Het |
| Or13a24 |
A |
G |
7: 140,154,554 (GRCm39) |
M163V |
probably benign |
Het |
| Or1l4 |
T |
A |
2: 37,092,094 (GRCm39) |
Y280* |
probably null |
Het |
| Or2h2b-ps1 |
A |
T |
17: 37,481,173 (GRCm39) |
V20E |
probably damaging |
Het |
| Or4c114 |
G |
T |
2: 88,904,656 (GRCm39) |
P260T |
probably benign |
Het |
| Or6aa1 |
A |
T |
7: 86,043,718 (GRCm39) |
|
probably null |
Het |
| Or8g32 |
T |
C |
9: 39,306,031 (GRCm39) |
*312Q |
probably null |
Het |
| P2ry6 |
A |
G |
7: 100,587,511 (GRCm39) |
Y283H |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 93,253,009 (GRCm39) |
N1218I |
probably benign |
Het |
| Pcdhga6 |
A |
G |
18: 37,841,671 (GRCm39) |
N464D |
probably damaging |
Het |
| Pramel52-ps |
G |
T |
5: 94,531,387 (GRCm39) |
R90S |
probably benign |
Het |
| Rdx |
T |
A |
9: 51,980,137 (GRCm39) |
S243R |
probably damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,594,196 (GRCm39) |
N66S |
probably damaging |
Het |
| Slit1 |
C |
A |
19: 41,605,232 (GRCm39) |
R873L |
probably benign |
Het |
| Spata31e3 |
G |
A |
13: 50,399,542 (GRCm39) |
T928I |
possibly damaging |
Het |
| Strc |
T |
A |
2: 121,203,426 (GRCm39) |
I1130F |
probably benign |
Het |
| Tlk2 |
T |
A |
11: 105,145,844 (GRCm39) |
L350Q |
probably damaging |
Het |
| Tmem74 |
G |
T |
15: 43,730,554 (GRCm39) |
T163K |
probably damaging |
Het |
| Trav15-1-dv6-1 |
T |
A |
14: 53,797,511 (GRCm39) |
H53Q |
probably benign |
Het |
| Trbv24 |
T |
C |
6: 41,195,335 (GRCm39) |
|
probably benign |
Het |
| Uba2 |
T |
C |
7: 33,854,021 (GRCm39) |
D307G |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,131,134 (GRCm39) |
R924Q |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,910,651 (GRCm39) |
T681I |
probably benign |
Het |
| Zbtb42 |
C |
T |
12: 112,646,976 (GRCm39) |
R384W |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,305,195 (GRCm39) |
C207* |
probably null |
Het |
| Zfp512b |
C |
A |
2: 181,230,567 (GRCm39) |
R441L |
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 |
|
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'- GTGCTGGGCATGATATTTCAAAG -3'
(R):5'- ATATACCCCTGTGTGTATGTATGTG -3'
Sequencing Primer
(F):5'- CTGGGCATGATATTTCAAAGGTGAGC -3'
(R):5'- GTGTTTAAAGCAACCAATGTACAC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation