Incidental Mutation 'R2200:Ipo13'
ID |
238599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipo13
|
Ensembl Gene |
ENSMUSG00000033365 |
Gene Name |
importin 13 |
Synonyms |
Imp13, Kap13 |
MMRRC Submission |
040202-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.959)
|
Stock # |
R2200 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
117751683-117772196 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to C
at 117762100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035989
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036156]
|
AlphaFold |
Q8K0C1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036156
|
SMART Domains |
Protein: ENSMUSP00000035989 Gene: ENSMUSG00000033365
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
18 |
N/A |
INTRINSIC |
IBN_N
|
45 |
111 |
2.05e-7 |
SMART |
Pfam:Xpo1
|
116 |
263 |
4.8e-29 |
PFAM |
low complexity region
|
668 |
692 |
N/A |
INTRINSIC |
low complexity region
|
767 |
779 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134752
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153918
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.[provided by RefSeq, Mar 2009] PHENOTYPE: Mice homozygous for a gene trap insertion die prior to genotyping age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer1 |
T |
C |
17: 57,265,423 (GRCm39) |
I135M |
probably benign |
Het |
Ano7 |
A |
G |
1: 93,308,158 (GRCm39) |
E63G |
possibly damaging |
Het |
Asah1 |
A |
G |
8: 41,796,765 (GRCm39) |
|
probably null |
Het |
B3gat2 |
C |
T |
1: 23,801,873 (GRCm39) |
P53L |
probably benign |
Het |
Bmp8b |
A |
T |
4: 123,016,815 (GRCm39) |
M339L |
possibly damaging |
Het |
Bpifb9b |
C |
A |
2: 154,155,574 (GRCm39) |
Q358K |
probably benign |
Het |
Cbs |
T |
C |
17: 31,843,238 (GRCm39) |
D231G |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,825,673 (GRCm39) |
Y1144H |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,519,685 (GRCm39) |
I230L |
probably benign |
Het |
Clec2d |
A |
T |
6: 129,161,831 (GRCm39) |
T155S |
possibly damaging |
Het |
Cpxm1 |
G |
T |
2: 130,235,117 (GRCm39) |
F567L |
probably damaging |
Het |
Cyp4f16 |
G |
T |
17: 32,756,078 (GRCm39) |
A36S |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,993,235 (GRCm39) |
|
probably benign |
Het |
Eml5 |
T |
C |
12: 98,791,676 (GRCm39) |
D1280G |
probably damaging |
Het |
Ergic1 |
C |
A |
17: 26,860,566 (GRCm39) |
A218D |
possibly damaging |
Het |
Eva1a |
A |
G |
6: 82,068,894 (GRCm39) |
R74G |
probably benign |
Het |
Fhip1a |
A |
G |
3: 85,637,628 (GRCm39) |
S224P |
probably damaging |
Het |
Fus |
T |
A |
7: 127,576,400 (GRCm39) |
N273K |
probably damaging |
Het |
Itgb3 |
T |
A |
11: 104,531,812 (GRCm39) |
|
probably null |
Het |
Lrif1 |
T |
A |
3: 106,641,874 (GRCm39) |
S63R |
probably damaging |
Het |
Lrig3 |
A |
G |
10: 125,832,478 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
T |
2: 41,174,177 (GRCm39) |
N1547K |
probably benign |
Het |
Mme |
A |
T |
3: 63,287,713 (GRCm39) |
N738I |
possibly damaging |
Het |
Morc2a |
A |
G |
11: 3,633,919 (GRCm39) |
N677S |
probably benign |
Het |
Mrpl35 |
A |
C |
6: 71,794,723 (GRCm39) |
L82V |
probably benign |
Het |
Mybpc1 |
A |
T |
10: 88,391,557 (GRCm39) |
N313K |
probably damaging |
Het |
Podn |
T |
C |
4: 107,879,787 (GRCm39) |
D66G |
probably damaging |
Het |
Ptpru |
A |
T |
4: 131,548,124 (GRCm39) |
N52K |
probably damaging |
Het |
Pyroxd1 |
G |
T |
6: 142,304,808 (GRCm39) |
R345L |
probably benign |
Het |
Qser1 |
A |
G |
2: 104,619,358 (GRCm39) |
S485P |
probably damaging |
Het |
Rbm46 |
A |
T |
3: 82,771,351 (GRCm39) |
D421E |
probably benign |
Het |
Rgs10 |
T |
C |
7: 127,990,761 (GRCm39) |
E109G |
probably damaging |
Het |
Samd8 |
C |
T |
14: 21,825,388 (GRCm39) |
P178S |
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,318,404 (GRCm39) |
K387E |
probably damaging |
Het |
Sccpdh |
G |
T |
1: 179,498,171 (GRCm39) |
V72F |
possibly damaging |
Het |
Sec22a |
A |
T |
16: 35,134,527 (GRCm39) |
V285E |
probably damaging |
Het |
Slc19a3 |
A |
G |
1: 83,000,664 (GRCm39) |
S118P |
probably damaging |
Het |
Sun1 |
C |
A |
5: 139,216,974 (GRCm39) |
R338S |
probably benign |
Het |
Taf1c |
A |
G |
8: 120,325,417 (GRCm39) |
F815S |
probably benign |
Het |
Zcchc14 |
A |
T |
8: 122,332,167 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ipo13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00091:Ipo13
|
APN |
4 |
117,760,602 (GRCm39) |
missense |
probably benign |
0.10 |
IGL00800:Ipo13
|
APN |
4 |
117,769,505 (GRCm39) |
missense |
probably benign |
0.31 |
IGL00971:Ipo13
|
APN |
4 |
117,771,564 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01552:Ipo13
|
APN |
4 |
117,758,161 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01957:Ipo13
|
APN |
4 |
117,761,078 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02262:Ipo13
|
APN |
4 |
117,761,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R0109:Ipo13
|
UTSW |
4 |
117,762,213 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0142:Ipo13
|
UTSW |
4 |
117,762,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R0771:Ipo13
|
UTSW |
4 |
117,751,843 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1248:Ipo13
|
UTSW |
4 |
117,758,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1381:Ipo13
|
UTSW |
4 |
117,761,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R1497:Ipo13
|
UTSW |
4 |
117,761,856 (GRCm39) |
missense |
probably benign |
0.04 |
R1614:Ipo13
|
UTSW |
4 |
117,761,815 (GRCm39) |
missense |
probably benign |
0.00 |
R1711:Ipo13
|
UTSW |
4 |
117,761,719 (GRCm39) |
missense |
probably benign |
0.38 |
R2037:Ipo13
|
UTSW |
4 |
117,761,858 (GRCm39) |
nonsense |
probably null |
|
R3698:Ipo13
|
UTSW |
4 |
117,757,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R3949:Ipo13
|
UTSW |
4 |
117,758,239 (GRCm39) |
missense |
probably benign |
0.10 |
R4687:Ipo13
|
UTSW |
4 |
117,758,773 (GRCm39) |
missense |
probably benign |
0.06 |
R4894:Ipo13
|
UTSW |
4 |
117,761,687 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4894:Ipo13
|
UTSW |
4 |
117,760,638 (GRCm39) |
missense |
probably damaging |
0.99 |
R4956:Ipo13
|
UTSW |
4 |
117,758,768 (GRCm39) |
missense |
probably benign |
0.00 |
R5679:Ipo13
|
UTSW |
4 |
117,752,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R5879:Ipo13
|
UTSW |
4 |
117,760,400 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5921:Ipo13
|
UTSW |
4 |
117,769,286 (GRCm39) |
missense |
probably benign |
0.14 |
R6250:Ipo13
|
UTSW |
4 |
117,769,351 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6875:Ipo13
|
UTSW |
4 |
117,762,108 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7178:Ipo13
|
UTSW |
4 |
117,761,081 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7412:Ipo13
|
UTSW |
4 |
117,752,068 (GRCm39) |
missense |
probably benign |
|
R7687:Ipo13
|
UTSW |
4 |
117,769,088 (GRCm39) |
missense |
probably benign |
0.01 |
R7774:Ipo13
|
UTSW |
4 |
117,771,494 (GRCm39) |
missense |
probably benign |
0.11 |
R8390:Ipo13
|
UTSW |
4 |
117,769,534 (GRCm39) |
missense |
probably damaging |
0.99 |
R8489:Ipo13
|
UTSW |
4 |
117,758,219 (GRCm39) |
missense |
probably damaging |
0.98 |
R8525:Ipo13
|
UTSW |
4 |
117,762,126 (GRCm39) |
missense |
probably damaging |
0.99 |
R9039:Ipo13
|
UTSW |
4 |
117,758,185 (GRCm39) |
missense |
probably damaging |
0.98 |
R9229:Ipo13
|
UTSW |
4 |
117,758,801 (GRCm39) |
missense |
probably damaging |
0.96 |
R9319:Ipo13
|
UTSW |
4 |
117,769,585 (GRCm39) |
missense |
probably benign |
0.00 |
R9760:Ipo13
|
UTSW |
4 |
117,762,778 (GRCm39) |
missense |
probably benign |
0.05 |
Z1088:Ipo13
|
UTSW |
4 |
117,761,877 (GRCm39) |
missense |
probably benign |
0.14 |
Z1176:Ipo13
|
UTSW |
4 |
117,761,827 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGATGTCCACCCTGAAAAGC -3'
(R):5'- CTTTACGAAAGGAGGTGGGTC -3'
Sequencing Primer
(F):5'- GATGTCCACCCTGAAAAGCAAAAG -3'
(R):5'- CCTGGCTCTCTCAGGATGAC -3'
|
Posted On |
2014-10-02 |