Incidental Mutation 'R6803:Ipo11'
| ID |
533458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipo11
|
| Ensembl Gene |
ENSMUSG00000042590 |
| Gene Name |
importin 11 |
| Synonyms |
Ranbp11, 1700081H05Rik, 2510001A17Rik, E330021B14Rik |
| MMRRC Submission |
044916-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6803 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
106930947-107073466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106993766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 723
(I723V)
|
| 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: I714V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079667
Gene: ENSMUSG00000042590
AA Change: I714V
| 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 |
probably benign
Transcript: ENSMUST00000186033
AA Change: I723V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140046
Gene: ENSMUSG00000042590
AA Change: I723V
| 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 |
0.0712 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg9 |
A |
C |
9: 50,700,860 (GRCm39) |
D210A |
probably benign |
Het |
| As3mt |
T |
G |
19: 46,698,020 (GRCm39) |
M120R |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,988,340 (GRCm39) |
S270C |
probably null |
Het |
| Car5a |
A |
C |
8: 122,650,504 (GRCm39) |
|
probably null |
Het |
| Ccdc187 |
T |
A |
2: 26,179,791 (GRCm39) |
T223S |
probably benign |
Het |
| Cel |
T |
C |
2: 28,448,060 (GRCm39) |
N322S |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,802,279 (GRCm39) |
E2185G |
possibly damaging |
Het |
| Clcnkb |
T |
C |
4: 141,132,639 (GRCm39) |
T597A |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,068,060 (GRCm39) |
Y24C |
possibly damaging |
Het |
| Cog3 |
A |
G |
14: 75,941,479 (GRCm39) |
S817P |
probably benign |
Het |
| Col8a2 |
A |
G |
4: 126,205,793 (GRCm39) |
Y601C |
probably damaging |
Het |
| Cpm |
G |
T |
10: 117,512,002 (GRCm39) |
|
probably null |
Het |
| Cpt2 |
T |
C |
4: 107,769,861 (GRCm39) |
N79S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,016,198 (GRCm39) |
T314A |
probably benign |
Het |
| Dnm1 |
C |
A |
2: 32,202,766 (GRCm39) |
V46F |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,908,083 (GRCm39) |
V2640M |
probably damaging |
Het |
| Fbxl2 |
A |
T |
9: 113,813,617 (GRCm39) |
C296S |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,802,637 (GRCm39) |
T1522A |
probably benign |
Het |
| Foxl2 |
A |
C |
9: 98,837,985 (GRCm39) |
K91T |
probably damaging |
Het |
| Hdac11 |
G |
T |
6: 91,143,247 (GRCm39) |
R131L |
probably damaging |
Het |
| Klhl33 |
A |
G |
14: 51,134,192 (GRCm39) |
L150P |
probably damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,647,261 (GRCm39) |
H65R |
probably damaging |
Het |
| Larp7 |
T |
C |
3: 127,330,685 (GRCm39) |
|
probably null |
Het |
| Ldlrad3 |
T |
C |
2: 101,943,892 (GRCm39) |
D60G |
possibly damaging |
Het |
| Mlip |
A |
T |
9: 77,097,663 (GRCm39) |
H177Q |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,730 (GRCm39) |
D298G |
probably benign |
Het |
| Npas2 |
A |
C |
1: 39,375,130 (GRCm39) |
S483R |
probably benign |
Het |
| Nrg3 |
C |
A |
14: 38,733,957 (GRCm39) |
E310* |
probably null |
Het |
| Omg |
T |
A |
11: 79,393,094 (GRCm39) |
T255S |
possibly damaging |
Het |
| Or2y12 |
T |
A |
11: 49,426,432 (GRCm39) |
L140H |
probably damaging |
Het |
| Or56b1b |
G |
T |
7: 108,164,620 (GRCm39) |
D127E |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,340,626 (GRCm39) |
D578G |
probably damaging |
Het |
| Pygo1 |
A |
G |
9: 72,850,267 (GRCm39) |
K39E |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,089,994 (GRCm39) |
D66G |
probably damaging |
Het |
| Samd9l |
A |
T |
6: 3,375,446 (GRCm39) |
I605K |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,505,970 (GRCm39) |
S593P |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,552,210 (GRCm39) |
V545A |
probably benign |
Het |
| Speer4f1 |
T |
A |
5: 17,684,388 (GRCm39) |
|
probably null |
Het |
| Spem1 |
T |
C |
11: 69,711,974 (GRCm39) |
E230G |
possibly damaging |
Het |
| Sphkap |
A |
G |
1: 83,258,231 (GRCm39) |
F171L |
probably damaging |
Het |
| Tbc1d13 |
T |
C |
2: 30,025,522 (GRCm39) |
|
probably benign |
Het |
| Tmem222 |
A |
T |
4: 132,994,154 (GRCm39) |
N206K |
probably benign |
Het |
| Trnau1ap |
C |
T |
4: 132,049,081 (GRCm39) |
V41M |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,769,387 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,766,368 (GRCm39) |
|
probably null |
Het |
| Uox |
T |
G |
3: 146,318,264 (GRCm39) |
V55G |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,755,960 (GRCm39) |
I11F |
possibly damaging |
Het |
| Wasf2 |
T |
C |
4: 132,922,220 (GRCm39) |
|
probably null |
Het |
| Wdr97 |
A |
G |
15: 76,240,776 (GRCm39) |
Y488C |
probably damaging |
Het |
| Zbtb4 |
T |
C |
11: 69,669,454 (GRCm39) |
S726P |
possibly damaging |
Het |
| Zfp534 |
C |
T |
4: 147,758,926 (GRCm39) |
C581Y |
probably damaging |
Het |
| Zfp551 |
A |
T |
7: 12,151,108 (GRCm39) |
C100* |
probably null |
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 |
|
|
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 |
|
|
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'- GCCCTTCCTACAGTGAGAAATAC -3'
(R):5'- CATGCTTGCTGCTTCAGGAAC -3'
Sequencing Primer
(F):5'- TCCTACAGTGAGAAATACTTACAGGG -3'
(R):5'- TTGCTGCTTCAGGAACCATAAACAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation