Incidental Mutation 'R1248:Ipo13'
| ID |
152181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipo13
|
| Ensembl Gene |
ENSMUSG00000033365 |
| Gene Name |
importin 13 |
| Synonyms |
Imp13, Kap13 |
| MMRRC Submission |
039315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R1248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
117751683-117772196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117758228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 712
(S712P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036156]
|
| AlphaFold |
Q8K0C1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036156
AA Change: S712P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035989
Gene: ENSMUSG00000033365
AA Change: S712P
| 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
|
| Meta Mutation Damage Score |
0.8133 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (43/44) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,271,054 (GRCm39) |
F863Y |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,847 (GRCm39) |
E219G |
probably benign |
Het |
| Akr1c20 |
G |
A |
13: 4,564,399 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ap5z1 |
C |
A |
5: 142,460,255 (GRCm39) |
S511R |
probably benign |
Het |
| Arhgap11a |
T |
A |
2: 113,664,447 (GRCm39) |
H612L |
possibly damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,794,153 (GRCm39) |
S118Y |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,340,836 (GRCm39) |
M38K |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,599,481 (GRCm39) |
E773D |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,742,001 (GRCm39) |
M212V |
probably benign |
Het |
| Dmtn |
C |
T |
14: 70,850,098 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,832,887 (GRCm39) |
|
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,410,358 (GRCm39) |
N184S |
probably benign |
Het |
| Fam98c |
A |
G |
7: 28,852,265 (GRCm39) |
M98T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,143,529 (GRCm39) |
K2867E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,820,107 (GRCm39) |
E5280V |
possibly damaging |
Het |
| Fuom |
T |
C |
7: 139,679,631 (GRCm39) |
|
probably benign |
Het |
| Gm3476 |
A |
T |
14: 6,118,512 (GRCm38) |
S204T |
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,288,617 (GRCm39) |
F23L |
probably benign |
Het |
| Il4i1 |
G |
T |
7: 44,489,213 (GRCm39) |
R334L |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,932,843 (GRCm39) |
S573I |
probably damaging |
Het |
| Lrp11 |
A |
G |
10: 7,480,058 (GRCm39) |
H371R |
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,466,303 (GRCm39) |
I520N |
probably damaging |
Het |
| Nagpa |
G |
T |
16: 5,016,480 (GRCm39) |
C236* |
probably null |
Het |
| Nktr |
A |
G |
9: 121,556,436 (GRCm39) |
N38S |
probably damaging |
Het |
| Nlrp10 |
G |
A |
7: 108,525,088 (GRCm39) |
R131C |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,231,211 (GRCm39) |
D386G |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,100,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,121,755 (GRCm39) |
|
probably benign |
Het |
| S100a4 |
G |
T |
3: 90,513,084 (GRCm39) |
S60I |
possibly damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,059,905 (GRCm39) |
G184C |
probably damaging |
Het |
| Slc25a46 |
C |
T |
18: 31,742,807 (GRCm39) |
D20N |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,622,509 (GRCm39) |
K695E |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,653,955 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
G |
10: 23,836,936 (GRCm39) |
V182G |
possibly damaging |
Het |
| Ttll1 |
C |
G |
15: 83,386,326 (GRCm39) |
S93T |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,443,008 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
A |
G |
5: 109,508,643 (GRCm39) |
N457S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,396 (GRCm39) |
E528G |
probably benign |
Het |
| Zfp52 |
A |
C |
17: 21,780,311 (GRCm39) |
E53A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGACCAGCTACAACAAAGCAG -3'
(R):5'- AGCCCGAGGAGTAGGACACTTAATG -3'
Sequencing Primer
(F):5'- ATCCCTGGAACACAGGTGG -3'
(R):5'- AGTAGGACACTTAATGTCGCTTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation