Incidental Mutation 'IGL01552:Ipo13'
ID |
90603 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ipo13
|
Ensembl Gene |
ENSMUSG00000033365 |
Gene Name |
importin 13 |
Synonyms |
Imp13, Kap13 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.954)
|
Stock # |
IGL01552
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
117751683-117772196 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 117758161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 734
(M734T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035989
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036156]
|
AlphaFold |
Q8K0C1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036156
AA Change: M734T
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000035989 Gene: ENSMUSG00000033365 AA Change: M734T
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 |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl8a |
T |
C |
1: 135,080,606 (GRCm39) |
|
probably null |
Het |
Bivm |
A |
G |
1: 44,165,933 (GRCm39) |
N128D |
probably benign |
Het |
Cfhr4 |
A |
G |
1: 139,667,040 (GRCm39) |
Y412H |
probably damaging |
Het |
Chil3 |
C |
A |
3: 106,056,164 (GRCm39) |
G330V |
probably damaging |
Het |
Dscaml1 |
A |
G |
9: 45,359,206 (GRCm39) |
H155R |
probably damaging |
Het |
Elapor1 |
A |
G |
3: 108,388,628 (GRCm39) |
W252R |
possibly damaging |
Het |
Etl4 |
T |
A |
2: 20,783,000 (GRCm39) |
V687D |
probably damaging |
Het |
Fbxw10 |
A |
T |
11: 62,748,510 (GRCm39) |
|
probably null |
Het |
Gfpt2 |
G |
T |
11: 49,695,832 (GRCm39) |
E21* |
probably null |
Het |
Gm10197 |
C |
T |
19: 53,360,122 (GRCm39) |
V26I |
possibly damaging |
Het |
Golim4 |
T |
C |
3: 75,863,502 (GRCm39) |
E35G |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,029,784 (GRCm39) |
|
probably benign |
Het |
Ino80d |
A |
G |
1: 63,097,136 (GRCm39) |
|
probably benign |
Het |
Klk1b27 |
C |
T |
7: 43,704,039 (GRCm39) |
L61F |
probably damaging |
Het |
Lamtor5 |
T |
C |
3: 107,186,324 (GRCm39) |
V31A |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,424,379 (GRCm39) |
L769* |
probably null |
Het |
Nipsnap1 |
A |
T |
11: 4,839,124 (GRCm39) |
S135C |
probably damaging |
Het |
Or4k35 |
C |
A |
2: 111,100,257 (GRCm39) |
G152C |
probably damaging |
Het |
Pparg |
A |
T |
6: 115,467,083 (GRCm39) |
H452L |
probably benign |
Het |
Rab34 |
C |
T |
11: 78,082,264 (GRCm39) |
A202V |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,656,228 (GRCm39) |
T1923S |
possibly damaging |
Het |
Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
Sh2d4b |
T |
C |
14: 40,582,605 (GRCm39) |
Q195R |
probably benign |
Het |
Sik2 |
C |
A |
9: 50,828,822 (GRCm39) |
|
probably benign |
Het |
Slc25a36 |
A |
G |
9: 96,961,286 (GRCm39) |
V111A |
probably benign |
Het |
Slco1a8 |
T |
C |
6: 141,933,432 (GRCm39) |
K451R |
possibly damaging |
Het |
Sptbn5 |
A |
T |
2: 119,884,903 (GRCm39) |
|
probably benign |
Het |
Tac2 |
G |
A |
10: 127,561,970 (GRCm39) |
E25K |
possibly damaging |
Het |
Tnc |
A |
G |
4: 63,888,645 (GRCm39) |
V1807A |
probably damaging |
Het |
Top3b |
T |
C |
16: 16,705,687 (GRCm39) |
|
probably benign |
Het |
Zfp827 |
A |
G |
8: 79,802,820 (GRCm39) |
E464G |
probably damaging |
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 |
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 |
|
R2200:Ipo13
|
UTSW |
4 |
117,762,100 (GRCm39) |
critical splice donor site |
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 |
|
|
Posted On |
2013-12-09 |