Incidental Mutation 'R5679:Ipo13'
ID |
442925 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipo13
|
Ensembl Gene |
ENSMUSG00000033365 |
Gene Name |
importin 13 |
Synonyms |
Imp13, Kap13 |
MMRRC Submission |
043176-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.959)
|
Stock # |
R5679 (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 T
at 117752029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 903
(W903R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035989
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030265]
[ENSMUST00000036156]
[ENSMUST00000183773]
|
AlphaFold |
Q8K0C1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030265
|
SMART Domains |
Protein: ENSMUSP00000030265 Gene: ENSMUSG00000028540
Domain | Start | End | E-Value | Type |
Pfam:Diphthamide_syn
|
54 |
375 |
2.8e-64 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036156
AA Change: W903R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035989 Gene: ENSMUSG00000033365 AA Change: W903R
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: ENSMUST00000126554
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134752
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136670
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139332
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155524
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140661
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183773
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh3a1 |
G |
A |
11: 61,107,994 (GRCm39) |
R346Q |
probably benign |
Het |
Bcat1 |
A |
T |
6: 144,953,474 (GRCm39) |
F304L |
probably damaging |
Het |
Ccdc178 |
T |
G |
18: 22,200,486 (GRCm39) |
K439N |
probably benign |
Het |
Cdkn2a |
T |
C |
4: 89,195,098 (GRCm39) |
D84G |
possibly damaging |
Het |
Chst8 |
T |
A |
7: 34,374,729 (GRCm39) |
H370L |
probably damaging |
Het |
Dimt1 |
A |
G |
13: 107,084,108 (GRCm39) |
T32A |
possibly damaging |
Het |
Dph6 |
T |
C |
2: 114,398,422 (GRCm39) |
I162V |
probably benign |
Het |
E230025N22Rik |
C |
T |
18: 36,818,435 (GRCm39) |
G465R |
possibly damaging |
Het |
Fam3d |
T |
C |
14: 8,349,305 (GRCm38) |
E215G |
probably damaging |
Het |
Fbxw7 |
T |
A |
3: 84,884,794 (GRCm39) |
N612K |
probably damaging |
Het |
Gpr179 |
A |
G |
11: 97,227,571 (GRCm39) |
V1528A |
probably benign |
Het |
Gucy2g |
T |
A |
19: 55,219,511 (GRCm39) |
K370N |
possibly damaging |
Het |
Itgax |
T |
A |
7: 127,734,162 (GRCm39) |
H311Q |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,752,153 (GRCm39) |
|
probably benign |
Het |
Lox |
T |
C |
18: 52,661,989 (GRCm39) |
N138S |
probably benign |
Het |
Mre11a |
T |
A |
9: 14,698,215 (GRCm39) |
I21N |
probably damaging |
Het |
Ncan |
T |
G |
8: 70,565,276 (GRCm39) |
Y217S |
probably damaging |
Het |
Nfil3 |
A |
G |
13: 53,122,527 (GRCm39) |
F126L |
possibly damaging |
Het |
Nfu1 |
T |
C |
6: 86,996,379 (GRCm39) |
V110A |
probably damaging |
Het |
Or12e8 |
T |
C |
2: 87,187,889 (GRCm39) |
F34L |
possibly damaging |
Het |
Or5e1 |
A |
G |
7: 108,354,203 (GRCm39) |
I47V |
probably damaging |
Het |
Or5g9 |
A |
T |
2: 85,552,390 (GRCm39) |
I214F |
probably damaging |
Het |
Palld |
T |
C |
8: 62,137,979 (GRCm39) |
Q592R |
possibly damaging |
Het |
Pcdhac1 |
T |
A |
18: 37,225,530 (GRCm39) |
L781Q |
probably damaging |
Het |
Rcl1 |
A |
G |
19: 29,098,658 (GRCm39) |
|
probably null |
Het |
Saxo1 |
C |
T |
4: 86,363,272 (GRCm39) |
V404I |
possibly damaging |
Het |
Scrt1 |
T |
A |
15: 76,403,262 (GRCm39) |
T243S |
unknown |
Het |
Slc22a30 |
G |
T |
19: 8,313,135 (GRCm39) |
T550K |
possibly damaging |
Het |
Strc |
A |
G |
2: 121,198,581 (GRCm39) |
S1437P |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,144,241 (GRCm39) |
I654F |
possibly damaging |
Het |
Tfcp2l1 |
A |
G |
1: 118,596,377 (GRCm39) |
M371V |
probably benign |
Het |
Vmn2r11 |
T |
C |
5: 109,202,708 (GRCm39) |
N123S |
probably benign |
Het |
Wdr81 |
T |
C |
11: 75,343,749 (GRCm39) |
D506G |
probably damaging |
Het |
Xylt1 |
A |
G |
7: 117,242,877 (GRCm39) |
D640G |
probably damaging |
Het |
Zfp148 |
T |
G |
16: 33,316,156 (GRCm39) |
M276R |
probably damaging |
Het |
Zfp329 |
G |
A |
7: 12,543,958 (GRCm39) |
T522I |
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 |
|
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 |
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'- TGTTTACTCGCTCACTGTAGGG -3'
(R):5'- GACAGTGCTCACTTACACAGC -3'
Sequencing Primer
(F):5'- TCGCTCACTGTAGGGAAGGG -3'
(R):5'- CTGTGGACGTATCCCAGAGAG -3'
|
Posted On |
2016-11-09 |