Incidental Mutation 'R1700:Ipo11'
| ID |
189682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipo11
|
| Ensembl Gene |
ENSMUSG00000042590 |
| Gene Name |
importin 11 |
| Synonyms |
Ranbp11, 1700081H05Rik, 2510001A17Rik, E330021B14Rik |
| MMRRC Submission |
039733-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1700 (G1)
|
| Quality Score |
212 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
106930947-107073466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 106932170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 975
(T975N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080856]
[ENSMUST00000186033]
|
| AlphaFold |
Q8K2V6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080856
AA Change: T966N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079667
Gene: ENSMUSG00000042590
AA Change: T966N
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
28 |
100 |
7.71e-12 |
SMART |
|
low complexity region
|
375 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
856 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186033
AA Change: T975N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140046
Gene: ENSMUSG00000042590
AA Change: T975N
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
28 |
100 |
7.71e-12 |
SMART |
|
low complexity region
|
375 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
865 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187867
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190801
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,899,537 (GRCm39) |
F936L |
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,152,143 (GRCm39) |
I211N |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Alas1 |
C |
T |
9: 106,116,845 (GRCm39) |
V293I |
possibly damaging |
Het |
| Ap1g1 |
T |
C |
8: 110,580,244 (GRCm39) |
Y569H |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,148,603 (GRCm39) |
D1190G |
probably damaging |
Het |
| Astn2 |
G |
A |
4: 65,664,591 (GRCm39) |
Q679* |
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,062,081 (GRCm39) |
H5L |
probably damaging |
Het |
| Baiap3 |
T |
C |
17: 25,468,302 (GRCm39) |
K279E |
probably damaging |
Het |
| C2cd2l |
G |
A |
9: 44,227,909 (GRCm39) |
P111S |
probably benign |
Het |
| C7 |
T |
A |
15: 5,032,274 (GRCm39) |
K646* |
probably null |
Het |
| Ccp110 |
C |
T |
7: 118,334,536 (GRCm39) |
T1003I |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 165,012,716 (GRCm39) |
D123G |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,768,433 (GRCm39) |
V722A |
probably benign |
Het |
| Cpsf4l |
A |
G |
11: 113,592,901 (GRCm39) |
F174S |
probably benign |
Het |
| Ctnna3 |
T |
C |
10: 63,688,551 (GRCm39) |
C332R |
probably damaging |
Het |
| Cxcl10 |
A |
T |
5: 92,495,714 (GRCm39) |
N76K |
probably damaging |
Het |
| Dnaaf9 |
G |
A |
2: 130,551,858 (GRCm39) |
L1010F |
probably damaging |
Het |
| Dnaja3 |
G |
A |
16: 4,502,029 (GRCm39) |
R11K |
probably null |
Het |
| Efcab10 |
A |
G |
12: 33,445,170 (GRCm39) |
T28A |
possibly damaging |
Het |
| Esrrg |
A |
G |
1: 187,775,850 (GRCm39) |
R103G |
probably damaging |
Het |
| Exosc2 |
A |
G |
2: 31,560,818 (GRCm39) |
K23E |
probably benign |
Het |
| Flot2 |
C |
T |
11: 77,940,373 (GRCm39) |
S40L |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,822,081 (GRCm39) |
V5938A |
probably benign |
Het |
| Gclc |
A |
G |
9: 77,683,571 (GRCm39) |
T143A |
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,669,623 (GRCm39) |
V407A |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,122,884 (GRCm39) |
M497K |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,357,960 (GRCm39) |
|
probably null |
Het |
| Hnrnpll |
A |
C |
17: 80,341,534 (GRCm39) |
S502A |
probably benign |
Het |
| Kif17 |
C |
T |
4: 137,990,009 (GRCm39) |
Q66* |
probably null |
Het |
| Lrp10 |
T |
C |
14: 54,707,209 (GRCm39) |
V682A |
possibly damaging |
Het |
| Lsmem1 |
A |
T |
12: 40,230,677 (GRCm39) |
L75Q |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,735,169 (GRCm39) |
Y430N |
probably benign |
Het |
| Med8 |
C |
T |
4: 118,269,931 (GRCm39) |
S72L |
possibly damaging |
Het |
| Mex3a |
A |
G |
3: 88,443,682 (GRCm39) |
T253A |
probably damaging |
Het |
| Myf6 |
T |
C |
10: 107,329,220 (GRCm39) |
K242E |
probably damaging |
Het |
| Ncald |
T |
A |
15: 37,397,587 (GRCm39) |
Y31F |
probably benign |
Het |
| Ndufa12 |
T |
A |
10: 94,035,855 (GRCm39) |
Y48N |
probably damaging |
Het |
| Or12e10 |
T |
C |
2: 87,641,112 (GRCm39) |
V316A |
probably benign |
Het |
| Or51q1c |
T |
A |
7: 103,653,329 (GRCm39) |
Y282* |
probably null |
Het |
| Or5as1 |
T |
G |
2: 86,980,123 (GRCm39) |
N294T |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,610,639 (GRCm39) |
T1858A |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,618,651 (GRCm39) |
L2P |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,214,241 (GRCm39) |
R1642H |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,333,990 (GRCm39) |
M213K |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,965,041 (GRCm39) |
N709S |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,124,999 (GRCm39) |
W308R |
probably damaging |
Het |
| Prkag2 |
A |
T |
5: 25,076,539 (GRCm39) |
I208N |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,330,864 (GRCm39) |
F156I |
probably damaging |
Het |
| Rpusd3 |
A |
G |
6: 113,392,494 (GRCm39) |
*345Q |
probably null |
Het |
| Rrp1b |
A |
G |
17: 32,276,178 (GRCm39) |
K575R |
probably benign |
Het |
| Shd |
G |
A |
17: 56,281,307 (GRCm39) |
V250I |
probably damaging |
Het |
| Slc12a5 |
C |
A |
2: 164,834,296 (GRCm39) |
N749K |
possibly damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,254,021 (GRCm39) |
V488D |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Srsf4 |
C |
A |
4: 131,627,871 (GRCm39) |
|
probably benign |
Het |
| Strn |
T |
C |
17: 78,999,831 (GRCm39) |
Y135C |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,409,376 (GRCm39) |
M1V |
probably null |
Het |
| Tas1r3 |
T |
G |
4: 155,946,027 (GRCm39) |
Q489P |
probably benign |
Het |
| Tas2r103 |
A |
T |
6: 133,013,774 (GRCm39) |
N97K |
probably damaging |
Het |
| Tas2r113 |
A |
G |
6: 132,870,755 (GRCm39) |
Y261C |
possibly damaging |
Het |
| Tex21 |
T |
C |
12: 76,268,446 (GRCm39) |
E112G |
probably damaging |
Het |
| Trappc8 |
T |
C |
18: 20,966,055 (GRCm39) |
S1128G |
probably damaging |
Het |
| Ubap1l |
A |
G |
9: 65,279,025 (GRCm39) |
|
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,434,018 (GRCm39) |
D121G |
probably damaging |
Het |
| Ubxn4 |
A |
G |
1: 128,180,023 (GRCm39) |
I56V |
possibly damaging |
Het |
| Uri1 |
T |
C |
7: 37,662,949 (GRCm39) |
I348M |
probably damaging |
Het |
| Usp21 |
C |
A |
1: 171,111,295 (GRCm39) |
L379F |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,390 (GRCm39) |
H214L |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,341,900 (GRCm39) |
E93G |
unknown |
Het |
|
| Other mutations in Ipo11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00693:Ipo11
|
APN |
13 |
107,033,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00900:Ipo11
|
APN |
13 |
106,983,952 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL00971:Ipo11
|
APN |
13 |
106,993,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01023:Ipo11
|
APN |
13 |
107,033,767 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01331:Ipo11
|
APN |
13 |
106,932,254 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01608:Ipo11
|
APN |
13 |
106,971,002 (GRCm39) |
intron |
probably benign |
|
|
IGL02021:Ipo11
|
APN |
13 |
106,993,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02620:Ipo11
|
APN |
13 |
107,012,789 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02651:Ipo11
|
APN |
13 |
107,012,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02699:Ipo11
|
APN |
13 |
107,025,905 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02928:Ipo11
|
APN |
13 |
107,025,863 (GRCm39) |
splice site |
probably benign |
|
|
R0017:Ipo11
|
UTSW |
13 |
107,023,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0017:Ipo11
|
UTSW |
13 |
107,023,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0032:Ipo11
|
UTSW |
13 |
106,970,971 (GRCm39) |
intron |
probably benign |
|
|
R0164:Ipo11
|
UTSW |
13 |
107,046,702 (GRCm39) |
splice site |
probably benign |
|
|
R0333:Ipo11
|
UTSW |
13 |
107,007,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0499:Ipo11
|
UTSW |
13 |
107,061,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0555:Ipo11
|
UTSW |
13 |
107,028,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0718:Ipo11
|
UTSW |
13 |
107,056,119 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0899:Ipo11
|
UTSW |
13 |
107,037,324 (GRCm39) |
nonsense |
probably null |
|
|
R1590:Ipo11
|
UTSW |
13 |
107,023,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Ipo11
|
UTSW |
13 |
106,948,765 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1852:Ipo11
|
UTSW |
13 |
106,948,765 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1853:Ipo11
|
UTSW |
13 |
106,997,395 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2012:Ipo11
|
UTSW |
13 |
107,056,130 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2168:Ipo11
|
UTSW |
13 |
107,016,118 (GRCm39) |
splice site |
probably null |
|
|
R2183:Ipo11
|
UTSW |
13 |
107,061,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4254:Ipo11
|
UTSW |
13 |
107,029,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4607:Ipo11
|
UTSW |
13 |
107,037,319 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4610:Ipo11
|
UTSW |
13 |
107,016,245 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4654:Ipo11
|
UTSW |
13 |
106,970,692 (GRCm39) |
intron |
probably benign |
|
|
R4792:Ipo11
|
UTSW |
13 |
106,970,668 (GRCm39) |
intron |
probably benign |
|
|
R4990:Ipo11
|
UTSW |
13 |
106,997,395 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5309:Ipo11
|
UTSW |
13 |
106,970,481 (GRCm39) |
intron |
probably benign |
|
|
R5580:Ipo11
|
UTSW |
13 |
107,037,255 (GRCm39) |
missense |
probably benign |
|
|
R5822:Ipo11
|
UTSW |
13 |
106,984,926 (GRCm39) |
unclassified |
probably benign |
|
|
R6459:Ipo11
|
UTSW |
13 |
107,002,277 (GRCm39) |
splice site |
probably null |
|
|
R6597:Ipo11
|
UTSW |
13 |
107,002,371 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6803:Ipo11
|
UTSW |
13 |
106,993,766 (GRCm39) |
missense |
probably benign |
|
|
R6882:Ipo11
|
UTSW |
13 |
107,037,190 (GRCm39) |
splice site |
probably null |
|
|
R7071:Ipo11
|
UTSW |
13 |
107,061,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7202:Ipo11
|
UTSW |
13 |
107,012,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Ipo11
|
UTSW |
13 |
107,032,365 (GRCm39) |
missense |
probably null |
|
|
R7221:Ipo11
|
UTSW |
13 |
107,029,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7392:Ipo11
|
UTSW |
13 |
107,028,199 (GRCm39) |
nonsense |
probably null |
|
|
R7871:Ipo11
|
UTSW |
13 |
107,028,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8189:Ipo11
|
UTSW |
13 |
107,061,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8426:Ipo11
|
UTSW |
13 |
106,978,678 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8951:Ipo11
|
UTSW |
13 |
106,978,690 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8981:Ipo11
|
UTSW |
13 |
107,061,633 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9272:Ipo11
|
UTSW |
13 |
107,046,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9765:Ipo11
|
UTSW |
13 |
107,061,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAACAGCTCCCTTGTGAGATACC -3'
(R):5'- AGGATTGTCTGTCTCTCTGACCCTG -3'
Sequencing Primer
(F):5'- TGCAGCTACTCTCAATAAATGC -3'
(R):5'- TGACCCTGTCTGTCCTCTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation