Incidental Mutation 'R8489:Ipo13'
| ID |
657876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipo13
|
| Ensembl Gene |
ENSMUSG00000033365 |
| Gene Name |
importin 13 |
| Synonyms |
Imp13, Kap13 |
| MMRRC Submission |
067932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R8489 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
117751683-117772196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117758219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 715
(T715A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036156]
|
| AlphaFold |
Q8K0C1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036156
AA Change: T715A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035989
Gene: ENSMUSG00000033365
AA Change: T715A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI661453 |
C |
A |
17: 47,777,254 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
T |
G |
10: 80,143,298 (GRCm39) |
L466R |
probably damaging |
Het |
| Baz1b |
C |
A |
5: 135,245,709 (GRCm39) |
P386H |
probably damaging |
Het |
| Ccdc149 |
T |
C |
5: 52,533,999 (GRCm39) |
D389G |
probably benign |
Het |
| Cit |
T |
A |
5: 116,083,962 (GRCm39) |
|
probably null |
Het |
| Cmas |
C |
A |
6: 142,702,596 (GRCm39) |
A33E |
probably benign |
Het |
| Dcaf7 |
A |
G |
11: 105,942,743 (GRCm39) |
N230S |
probably damaging |
Het |
| Dcun1d5 |
C |
A |
9: 7,206,837 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
T |
A |
6: 148,986,389 (GRCm39) |
D58V |
probably benign |
Het |
| Dmrt2 |
C |
A |
19: 25,655,831 (GRCm39) |
Q477K |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,672,999 (GRCm39) |
N90S |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,804,435 (GRCm39) |
I1848F |
possibly damaging |
Het |
| Fgfr2 |
T |
G |
7: 129,769,534 (GRCm39) |
M522L |
probably benign |
Het |
| Fshr |
C |
A |
17: 89,293,795 (GRCm39) |
K294N |
probably benign |
Het |
| Gja10 |
T |
C |
4: 32,601,866 (GRCm39) |
I173V |
probably benign |
Het |
| Gmnn |
A |
G |
13: 24,941,614 (GRCm39) |
S32P |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,487,180 (GRCm39) |
N95D |
probably damaging |
Het |
| Klrc2 |
A |
G |
6: 129,635,787 (GRCm39) |
S97P |
probably benign |
Het |
| Lrrn4 |
G |
A |
2: 132,721,364 (GRCm39) |
S151L |
probably benign |
Het |
| Man2a1 |
G |
T |
17: 64,908,765 (GRCm39) |
S12I |
possibly damaging |
Het |
| Mplkipl1 |
T |
C |
19: 61,164,085 (GRCm39) |
T117A |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,701 (GRCm39) |
V124E |
possibly damaging |
Het |
| Myo5c |
T |
C |
9: 75,180,128 (GRCm39) |
W690R |
probably damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,150,745 (GRCm39) |
K817E |
probably damaging |
Het |
| Or51k2 |
T |
C |
7: 103,596,328 (GRCm39) |
I185T |
probably damaging |
Het |
| Or5h27 |
A |
G |
16: 59,006,400 (GRCm39) |
*149Q |
probably null |
Het |
| Or5p60 |
T |
A |
7: 107,724,372 (GRCm39) |
I33F |
probably benign |
Het |
| Or8b50 |
T |
C |
9: 38,518,232 (GRCm39) |
M157T |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,709,038 (GRCm39) |
I759N |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,207 (GRCm39) |
N396Y |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,766,437 (GRCm39) |
C1542S |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,274,121 (GRCm39) |
V450E |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,445,121 (GRCm39) |
K574E |
probably damaging |
Het |
| Pramel52-ps |
T |
C |
5: 94,531,551 (GRCm39) |
L145P |
probably damaging |
Het |
| Psmc1 |
C |
T |
12: 100,089,356 (GRCm39) |
R410C |
probably benign |
Het |
| Rad51b |
C |
T |
12: 79,374,024 (GRCm39) |
S201L |
probably benign |
Het |
| Rgs3 |
T |
A |
4: 62,544,733 (GRCm39) |
L200Q |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,479,846 (GRCm39) |
M1293V |
probably damaging |
Het |
| Scin |
C |
T |
12: 40,131,019 (GRCm39) |
G298D |
probably damaging |
Het |
| Scn8a |
C |
A |
15: 100,867,014 (GRCm39) |
F123L |
probably damaging |
Het |
| Snapc3 |
G |
A |
4: 83,369,531 (GRCm39) |
C353Y |
probably damaging |
Het |
| Sned1 |
C |
A |
1: 93,210,978 (GRCm39) |
S231* |
probably null |
Het |
| Tex15 |
A |
G |
8: 34,067,574 (GRCm39) |
T2335A |
probably benign |
Het |
| Tigd4 |
G |
A |
3: 84,502,526 (GRCm39) |
G481D |
probably benign |
Het |
| Trank1 |
T |
G |
9: 111,219,343 (GRCm39) |
F2027V |
probably benign |
Het |
| Ubr1 |
C |
T |
2: 120,711,548 (GRCm39) |
A1449T |
probably benign |
Het |
| Ulk1 |
G |
T |
5: 110,947,002 (GRCm39) |
Y89* |
probably null |
Het |
| Usp54 |
A |
G |
14: 20,611,604 (GRCm39) |
F1071L |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,587,190 (GRCm39) |
E949K |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,964 (GRCm39) |
T651S |
possibly damaging |
Het |
| Wdfy1 |
A |
G |
1: 79,739,368 (GRCm39) |
L17P |
probably damaging |
Het |
| Zfp672 |
G |
A |
11: 58,220,681 (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 |
|
|
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 |
|
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'- GCAGCCATCTGACACATTCC -3'
(R):5'- CCCTGAGAAGAAATGGTAGCC -3'
Sequencing Primer
(F):5'- TCTGACACATTCCCACCCAGG -3'
(R):5'- GCAAAGTTCGAGCCCATGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation