Incidental Mutation 'R8426:Ipo11'
| ID |
653490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipo11
|
| Ensembl Gene |
ENSMUSG00000042590 |
| Gene Name |
importin 11 |
| Synonyms |
Ranbp11, 1700081H05Rik, 2510001A17Rik, E330021B14Rik |
| MMRRC Submission |
067820-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8426 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
106930947-107073466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106978678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 834
(D834G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080856]
[ENSMUST00000186033]
|
| AlphaFold |
Q8K2V6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080856
AA Change: D834G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000079667
Gene: ENSMUSG00000042590
AA Change: D834G
| 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 |
possibly damaging
Transcript: ENSMUST00000186033
AA Change: D843G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140046
Gene: ENSMUSG00000042590
AA Change: D843G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,155,606 (GRCm39) |
H32R |
probably benign |
Het |
| Abcb1b |
T |
C |
5: 8,911,632 (GRCm39) |
|
probably null |
Het |
| Aicda |
A |
T |
6: 122,538,150 (GRCm39) |
N103Y |
probably damaging |
Het |
| Bsn |
T |
C |
9: 108,003,772 (GRCm39) |
E211G |
probably damaging |
Het |
| Casp9 |
T |
C |
4: 141,540,936 (GRCm39) |
Y435H |
probably damaging |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,493,266 (GRCm39) |
V763A |
possibly damaging |
Het |
| Cxcr6 |
A |
G |
9: 123,639,071 (GRCm39) |
N31S |
probably benign |
Het |
| Elapor1 |
G |
A |
3: 108,378,742 (GRCm39) |
A352V |
probably damaging |
Het |
| Gm17728 |
A |
G |
17: 9,641,231 (GRCm39) |
T114A |
probably benign |
Het |
| Gnao1 |
A |
T |
8: 94,622,857 (GRCm39) |
|
probably null |
Het |
| Iffo2 |
A |
T |
4: 139,342,291 (GRCm39) |
Y451F |
probably damaging |
Het |
| Ints4 |
G |
A |
7: 97,150,239 (GRCm39) |
W258* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,067,358 (GRCm39) |
D853G |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,979,487 (GRCm39) |
E1655G |
probably damaging |
Het |
| Lepr |
G |
A |
4: 101,671,841 (GRCm39) |
S955N |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,388,318 (GRCm39) |
I550V |
|
Het |
| Mov10l1 |
T |
A |
15: 88,881,608 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,852,294 (GRCm39) |
D798E |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,799,576 (GRCm39) |
I1380V |
probably damaging |
Het |
| Neu2 |
C |
T |
1: 87,524,387 (GRCm39) |
S124L |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,119,870 (GRCm39) |
I543V |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 88,762,097 (GRCm39) |
R48H |
possibly damaging |
Het |
| Ogn |
C |
T |
13: 49,774,567 (GRCm39) |
R237C |
possibly damaging |
Het |
| Or10aa3 |
T |
C |
1: 173,878,146 (GRCm39) |
L69P |
probably damaging |
Het |
| Or8b46 |
A |
T |
9: 38,450,620 (GRCm39) |
Y143F |
probably damaging |
Het |
| Phf24 |
C |
T |
4: 42,933,785 (GRCm39) |
Q19* |
probably null |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ptch2 |
G |
T |
4: 116,965,369 (GRCm39) |
S318I |
possibly damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,769 (GRCm39) |
M356T |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,382,105 (GRCm39) |
N529D |
probably benign |
Het |
| Smchd1 |
A |
C |
17: 71,755,598 (GRCm39) |
D261E |
probably damaging |
Het |
| Tcerg1 |
G |
A |
18: 42,681,466 (GRCm39) |
V538I |
possibly damaging |
Het |
| Thada |
A |
T |
17: 84,530,131 (GRCm39) |
M1746K |
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,733,654 (GRCm39) |
I234V |
probably benign |
Het |
| Tm9sf4 |
G |
A |
2: 153,045,736 (GRCm39) |
G536D |
probably damaging |
Het |
| Tmprss11c |
G |
T |
5: 86,379,677 (GRCm39) |
N410K |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Unc5d |
G |
T |
8: 29,210,016 (GRCm39) |
S440Y |
probably damaging |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,470 (GRCm39) |
D72G |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,382 (GRCm39) |
N239D |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,577,239 (GRCm39) |
H412Q |
possibly 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 |
|
|
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 |
|
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'- ACAATGCCAAGCTATGTTACAC -3'
(R):5'- CCAAAGTTTGTCCCAAGTTCTG -3'
Sequencing Primer
(F):5'- GACATTGCACACACATGGGGATTAC -3'
(R):5'- CCCAAGTTCTGTGACTTTTGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation