Incidental Mutation 'R6882:Ipo11'
ID |
536744 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipo11
|
Ensembl Gene |
ENSMUSG00000042590 |
Gene Name |
importin 11 |
Synonyms |
Ranbp11, 1700081H05Rik, 2510001A17Rik, E330021B14Rik |
MMRRC Submission |
044977-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6882 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
106930947-107073466 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 107037190 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080856]
[ENSMUST00000186033]
|
AlphaFold |
Q8K2V6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000080856
|
SMART Domains |
Protein: ENSMUSP00000079667 Gene: ENSMUSG00000042590
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 null
Transcript: ENSMUST00000186033
|
SMART Domains |
Protein: ENSMUSP00000140046 Gene: ENSMUSG00000042590
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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
Validation Efficiency |
100% (63/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr10 |
A |
G |
12: 71,003,125 (GRCm39) |
E238G |
probably benign |
Het |
Adgrf5 |
T |
A |
17: 43,761,271 (GRCm39) |
C989S |
probably damaging |
Het |
Ank2 |
T |
G |
3: 126,739,406 (GRCm39) |
|
probably benign |
Het |
C2cd6 |
T |
C |
1: 59,105,318 (GRCm39) |
D320G |
probably damaging |
Het |
Cacnb2 |
T |
A |
2: 14,829,110 (GRCm39) |
I15N |
probably benign |
Het |
Cage1 |
T |
A |
13: 38,206,534 (GRCm39) |
Q437L |
probably damaging |
Het |
Capn15 |
G |
T |
17: 26,179,153 (GRCm39) |
|
probably null |
Het |
Cbll1 |
A |
G |
12: 31,537,484 (GRCm39) |
Y424H |
probably damaging |
Het |
Ccdc166 |
T |
C |
15: 75,853,466 (GRCm39) |
H167R |
possibly damaging |
Het |
Ccdc7a |
T |
C |
8: 129,523,809 (GRCm39) |
|
probably benign |
Het |
Cdkl4 |
T |
A |
17: 80,851,175 (GRCm39) |
T176S |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,447,054 (GRCm39) |
E2321G |
possibly damaging |
Het |
Col6a5 |
G |
A |
9: 105,817,469 (GRCm39) |
Q281* |
probably null |
Het |
Csmd2 |
A |
G |
4: 128,343,062 (GRCm39) |
T1485A |
probably benign |
Het |
Dmxl1 |
A |
G |
18: 49,976,851 (GRCm39) |
|
probably null |
Het |
Dnah3 |
A |
G |
7: 119,570,407 (GRCm39) |
I2271T |
possibly damaging |
Het |
Elavl2 |
A |
G |
4: 91,196,952 (GRCm39) |
I42T |
probably damaging |
Het |
Epn3 |
C |
T |
11: 94,382,186 (GRCm39) |
A568T |
probably benign |
Het |
Etv3 |
T |
C |
3: 87,436,577 (GRCm39) |
F111L |
probably damaging |
Het |
Fnip1 |
A |
G |
11: 54,400,724 (GRCm39) |
E1041G |
probably damaging |
Het |
Fosl2 |
T |
C |
5: 32,310,208 (GRCm39) |
V219A |
possibly damaging |
Het |
Foxj2 |
T |
A |
6: 122,805,464 (GRCm39) |
|
probably null |
Het |
Gm8947 |
G |
A |
1: 151,068,880 (GRCm39) |
A238T |
possibly damaging |
Het |
Golgb1 |
C |
A |
16: 36,734,352 (GRCm39) |
Q1200K |
probably benign |
Het |
Igkv4-55 |
A |
G |
6: 69,584,289 (GRCm39) |
Y108H |
probably damaging |
Het |
Iglc1 |
G |
A |
16: 18,880,599 (GRCm39) |
|
probably benign |
Het |
Ints13 |
G |
T |
6: 146,464,939 (GRCm39) |
R221S |
probably null |
Het |
Kcnn2 |
A |
T |
18: 45,692,505 (GRCm39) |
H27L |
possibly damaging |
Het |
Kcns3 |
C |
T |
12: 11,142,049 (GRCm39) |
V217M |
probably benign |
Het |
Klra9 |
A |
T |
6: 130,155,985 (GRCm39) |
C257S |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lmbr1l |
A |
G |
15: 98,805,467 (GRCm39) |
F345L |
probably damaging |
Het |
Lrrc18 |
A |
C |
14: 32,730,646 (GRCm39) |
I62L |
probably benign |
Het |
Mr1 |
A |
G |
1: 155,008,199 (GRCm39) |
W259R |
possibly damaging |
Het |
Myo15a |
G |
A |
11: 60,414,832 (GRCm39) |
R3325H |
probably damaging |
Het |
Nid2 |
A |
G |
14: 19,839,775 (GRCm39) |
D788G |
probably damaging |
Het |
Or2y1c |
A |
T |
11: 49,361,290 (GRCm39) |
Y104F |
probably benign |
Het |
Or5an10 |
C |
A |
19: 12,275,934 (GRCm39) |
Q187H |
probably damaging |
Het |
Or5h24 |
A |
T |
16: 58,918,990 (GRCm39) |
C122S |
unknown |
Het |
Or6d12 |
T |
C |
6: 116,493,395 (GRCm39) |
V219A |
probably benign |
Het |
Pbld1 |
T |
C |
10: 62,897,241 (GRCm39) |
L11P |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,263,662 (GRCm39) |
E434G |
probably benign |
Het |
Prg4 |
G |
A |
1: 150,329,246 (GRCm39) |
T174M |
probably damaging |
Het |
Prkdc |
G |
A |
16: 15,601,127 (GRCm39) |
|
probably null |
Het |
Prkdc |
T |
A |
16: 15,626,020 (GRCm39) |
S3349T |
probably benign |
Het |
Prpf38a |
C |
A |
4: 108,427,365 (GRCm39) |
E199D |
probably benign |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Rhbg |
T |
A |
3: 88,152,527 (GRCm39) |
H339L |
probably damaging |
Het |
Rnf183 |
A |
G |
4: 62,346,261 (GRCm39) |
I179T |
probably benign |
Het |
Sh3bp5l |
G |
T |
11: 58,222,525 (GRCm39) |
A7S |
probably benign |
Het |
Slc12a3 |
T |
A |
8: 95,092,546 (GRCm39) |
I989N |
possibly damaging |
Het |
Sycp3 |
C |
T |
10: 88,308,791 (GRCm39) |
R246* |
probably null |
Het |
Tmprss11b |
T |
A |
5: 86,819,530 (GRCm39) |
|
probably null |
Het |
Tmx4 |
T |
C |
2: 134,485,922 (GRCm39) |
T2A |
possibly damaging |
Het |
Tnfsf10 |
T |
C |
3: 27,380,182 (GRCm39) |
L82S |
possibly damaging |
Het |
Tnni3k |
T |
A |
3: 154,663,357 (GRCm39) |
I332F |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,644,539 (GRCm39) |
T13072S |
probably benign |
Het |
Vmn2r1 |
A |
T |
3: 63,997,529 (GRCm39) |
Y395F |
possibly damaging |
Het |
Zbbx |
A |
G |
3: 74,979,019 (GRCm39) |
V476A |
probably benign |
Het |
Zfp341 |
T |
C |
2: 154,479,943 (GRCm39) |
C465R |
probably damaging |
Het |
Zfp398 |
A |
G |
6: 47,843,016 (GRCm39) |
D224G |
probably damaging |
Het |
Zfp407 |
G |
T |
18: 84,361,194 (GRCm39) |
|
probably null |
Het |
Zfp52 |
T |
C |
17: 21,775,309 (GRCm39) |
M1T |
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 |
|
R6803:Ipo11
|
UTSW |
13 |
106,993,766 (GRCm39) |
missense |
probably benign |
|
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'- AACTCTTCCACTGAAAAGGCCTTG -3'
(R):5'- GCCACGATGTATTGCTTTGTAG -3'
Sequencing Primer
(F):5'- CCACTGAAAAGGCCTTGATATTGTG -3'
(R):5'- CTGTTCTCTGTGGAACCA -3'
|
Posted On |
2018-10-18 |