Incidental Mutation 'R9765:Ipo11'
| ID |
733226 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipo11
|
| Ensembl Gene |
ENSMUSG00000042590 |
| Gene Name |
importin 11 |
| Synonyms |
Ranbp11, 1700081H05Rik, 2510001A17Rik, E330021B14Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9765 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
106930947-107073466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107061556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 35
(W35R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080856]
[ENSMUST00000186033]
|
| AlphaFold |
Q8K2V6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080856
AA Change: W35R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079667
Gene: ENSMUSG00000042590
AA Change: W35R
| 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 damaging
Transcript: ENSMUST00000186033
AA Change: W35R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140046
Gene: ENSMUSG00000042590
AA Change: W35R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,404,829 (GRCm39) |
V25I |
probably benign |
Het |
| Actr1b |
T |
A |
1: 36,741,677 (GRCm39) |
H65L |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,748,491 (GRCm39) |
G440E |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,930,500 (GRCm39) |
D1992E |
probably damaging |
Het |
| Cacng4 |
A |
G |
11: 107,632,809 (GRCm39) |
F81S |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,814,122 (GRCm39) |
I223T |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,823,111 (GRCm39) |
|
probably null |
Het |
| Ces2f |
A |
G |
8: 105,676,678 (GRCm39) |
D124G |
probably damaging |
Het |
| Cks1brt |
A |
G |
8: 85,898,234 (GRCm39) |
Y29C |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,484,110 (GRCm39) |
S388P |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,568,496 (GRCm39) |
I844T |
probably damaging |
Het |
| Col4a3 |
G |
A |
1: 82,646,678 (GRCm39) |
W396* |
probably null |
Het |
| Cul9 |
A |
T |
17: 46,850,224 (GRCm39) |
S449T |
probably benign |
Het |
| Cux2 |
G |
A |
5: 122,007,195 (GRCm39) |
P822L |
probably benign |
Het |
| Cyp3a13 |
G |
C |
5: 137,909,883 (GRCm39) |
P147A |
probably damaging |
Het |
| Dennd2a |
C |
T |
6: 39,473,907 (GRCm39) |
|
probably null |
Het |
| Dgkg |
T |
C |
16: 22,298,157 (GRCm39) |
M743V |
possibly damaging |
Het |
| Dhx35 |
C |
T |
2: 158,671,501 (GRCm39) |
R311W |
probably benign |
Het |
| Dnase1l2 |
A |
T |
17: 24,660,049 (GRCm39) |
V273E |
probably damaging |
Het |
| Dock8 |
T |
G |
19: 25,146,832 (GRCm39) |
I1437S |
possibly damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,408,056 (GRCm39) |
D450G |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,604,334 (GRCm39) |
V934I |
probably benign |
Het |
| Eef2 |
T |
A |
10: 81,015,010 (GRCm39) |
F236L |
possibly damaging |
Het |
| Eml4 |
A |
G |
17: 83,747,498 (GRCm39) |
I247V |
probably damaging |
Het |
| Evi5 |
A |
C |
5: 107,947,120 (GRCm39) |
C451G |
probably benign |
Het |
| Fam124a |
T |
G |
14: 62,824,883 (GRCm39) |
W126G |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,975,625 (GRCm39) |
I257T |
possibly damaging |
Het |
| Fn3krp |
A |
G |
11: 121,312,304 (GRCm39) |
K6E |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,735,131 (GRCm39) |
W1149* |
probably null |
Het |
| Glud1 |
C |
T |
14: 34,060,795 (GRCm39) |
R453* |
probably null |
Het |
| Gtf2f1 |
G |
A |
17: 57,318,125 (GRCm39) |
|
probably benign |
Het |
| Gtpbp4 |
T |
A |
13: 9,024,994 (GRCm39) |
D532V |
probably benign |
Het |
| Ifnar2 |
G |
A |
16: 91,184,975 (GRCm39) |
R122H |
possibly damaging |
Het |
| Ift70b |
A |
T |
2: 75,768,467 (GRCm39) |
Y95* |
probably null |
Het |
| Iqgap3 |
G |
A |
3: 88,017,361 (GRCm39) |
R1115Q |
possibly damaging |
Het |
| Kifc5b |
A |
G |
17: 27,142,239 (GRCm39) |
E239G |
probably damaging |
Het |
| Map3k7 |
A |
T |
4: 32,019,519 (GRCm39) |
E553D |
probably damaging |
Het |
| Mdh1 |
G |
T |
11: 21,512,926 (GRCm39) |
S146* |
probably null |
Het |
| Muc16 |
C |
A |
9: 18,548,494 (GRCm39) |
W5933L |
probably benign |
Het |
| Myo16 |
C |
A |
8: 10,620,401 (GRCm39) |
P1651T |
probably damaging |
Het |
| Naip5 |
C |
G |
13: 100,367,269 (GRCm39) |
A276P |
probably damaging |
Het |
| Noxo1 |
G |
T |
17: 24,915,386 (GRCm39) |
|
probably benign |
Het |
| Or4k49 |
T |
A |
2: 111,495,230 (GRCm39) |
Y220N |
probably benign |
Het |
| Pcdhgb6 |
A |
T |
18: 37,876,054 (GRCm39) |
N254I |
possibly damaging |
Het |
| Peli3 |
A |
T |
19: 4,991,850 (GRCm39) |
C30* |
probably null |
Het |
| Plb1 |
T |
A |
5: 32,512,731 (GRCm39) |
M1363K |
probably damaging |
Het |
| Ppp4r4 |
G |
T |
12: 103,550,346 (GRCm39) |
E257* |
probably null |
Het |
| Rbm20 |
T |
G |
19: 53,840,060 (GRCm39) |
S1016R |
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,225,026 (GRCm39) |
L143Q |
possibly damaging |
Het |
| Retreg1 |
G |
A |
15: 25,940,985 (GRCm39) |
G3D |
unknown |
Het |
| Rrm2 |
A |
G |
12: 24,758,956 (GRCm39) |
N65D |
probably benign |
Het |
| Samhd1 |
G |
T |
2: 156,965,219 (GRCm39) |
H199N |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,114,969 (GRCm39) |
L400* |
probably null |
Het |
| Slc26a7 |
A |
T |
4: 14,522,862 (GRCm39) |
M486K |
probably benign |
Het |
| Slc30a4 |
A |
T |
2: 122,536,456 (GRCm39) |
Y133N |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,601,945 (GRCm39) |
F1439Y |
unknown |
Het |
| Srpra |
T |
C |
9: 35,122,670 (GRCm39) |
V29A |
possibly damaging |
Het |
| St3gal1 |
T |
C |
15: 66,981,499 (GRCm39) |
T226A |
possibly damaging |
Het |
| Tas2r136 |
T |
A |
6: 132,754,813 (GRCm39) |
I105F |
probably benign |
Het |
| Tmem208 |
A |
G |
8: 106,061,506 (GRCm39) |
*177W |
probably null |
Het |
| Utrn |
T |
A |
10: 12,610,921 (GRCm39) |
N478I |
probably damaging |
Het |
| Zbtb37 |
T |
C |
1: 160,859,432 (GRCm39) |
Y291C |
probably damaging |
Het |
| Zc3h3 |
T |
G |
15: 75,709,459 (GRCm39) |
H470P |
probably benign |
Het |
| Zfp40 |
A |
T |
17: 23,395,863 (GRCm39) |
Y241* |
probably null |
Het |
| Zfp457 |
T |
C |
13: 67,440,874 (GRCm39) |
N567S |
probably benign |
Het |
| Zfp458 |
C |
T |
13: 67,408,217 (GRCm39) |
V33M |
probably damaging |
Het |
| Zfp953 |
A |
T |
13: 67,491,478 (GRCm39) |
I158N |
possibly damaging |
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 |
|
R1700:Ipo11
|
UTSW |
13 |
106,932,170 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTACGTAAATCTCCATAGGTAC -3'
(R):5'- TTCAAACCCTGCAGGCTTCC -3'
Sequencing Primer
(F):5'- TTAATCCCAGCACTTGGTAGGCG -3'
(R):5'- GCAGGCTTCCCTCCACTTATG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation