Incidental Mutation 'R3698:Ipo13'
| ID |
269882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipo13
|
| Ensembl Gene |
ENSMUSG00000033365 |
| Gene Name |
importin 13 |
| Synonyms |
Imp13, Kap13 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R3698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
117751683-117772196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117757890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 767
(L767P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036156]
|
| AlphaFold |
Q8K0C1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036156
AA Change: L767P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035989
Gene: ENSMUSG00000033365
AA Change: L767P
| 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: ENSMUST00000136670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153918
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
C |
A |
19: 56,904,955 (GRCm39) |
S549I |
possibly damaging |
Het |
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Arpc1a |
G |
T |
5: 145,033,001 (GRCm39) |
K103N |
probably damaging |
Het |
| Btg3 |
A |
G |
16: 78,161,722 (GRCm39) |
S136P |
probably benign |
Het |
| Ckap5 |
C |
A |
2: 91,450,511 (GRCm39) |
T2014K |
probably benign |
Het |
| Dennd10 |
A |
G |
19: 60,821,054 (GRCm39) |
|
probably null |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| G3bp2 |
T |
C |
5: 92,204,139 (GRCm39) |
E316G |
possibly damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Klhl13 |
G |
A |
X: 23,114,422 (GRCm39) |
T94I |
probably benign |
Het |
| Morc2a |
A |
T |
11: 3,629,672 (GRCm39) |
K364* |
probably null |
Het |
| Nat8f2 |
T |
A |
6: 85,844,778 (GRCm39) |
T195S |
probably benign |
Het |
| Nckipsd |
G |
A |
9: 108,688,320 (GRCm39) |
G83S |
probably damaging |
Het |
| Nfu1 |
A |
G |
6: 86,992,634 (GRCm39) |
T83A |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,360 (GRCm39) |
T103A |
probably benign |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Slc13a4 |
T |
A |
6: 35,251,892 (GRCm39) |
I467F |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,114,662 (GRCm39) |
L253Q |
probably benign |
Het |
| Tnxb |
G |
T |
17: 34,909,407 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,564,595 (GRCm39) |
R28514H |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 123,017,643 (GRCm39) |
D51G |
probably damaging |
Het |
| Uvrag |
T |
C |
7: 98,589,150 (GRCm39) |
E417G |
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 |
|
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 |
|
|
R2200:Ipo13
|
UTSW |
4 |
117,762,100 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- GCTGTGCTTCATTCCCCAAG -3'
(R):5'- CATCTTGTTAGAGACCTGTCCC -3'
Sequencing Primer
(F):5'- ATCAAGTCCCATGTGTGACCAGG -3'
(R):5'- TAGAGACCTGTCCCTGGGTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation