Incidental Mutation 'IGL02588:Ranbp17'
| ID |
299632 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ranbp17
|
| Ensembl Gene |
ENSMUSG00000040594 |
| Gene Name |
RAN binding protein 17 |
| Synonyms |
4932704E15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02588
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
33161795-33463746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33167361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1034
(V1034A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102815]
|
| AlphaFold |
Q99NF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102815
AA Change: V1034A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: V1034A
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
95 |
3.24e-5 |
SMART |
|
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131851
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
G |
A |
12: 52,933,282 (GRCm39) |
W258* |
probably null |
Het |
| Ankmy2 |
T |
C |
12: 36,226,685 (GRCm39) |
|
probably benign |
Het |
| Arhgap26 |
G |
T |
18: 38,734,670 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
A |
G |
11: 120,568,357 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cdh15 |
C |
A |
8: 123,583,291 (GRCm39) |
Y31* |
probably null |
Het |
| Cnih3 |
A |
G |
1: 181,237,269 (GRCm39) |
R76G |
probably benign |
Het |
| Cplx1 |
C |
A |
5: 108,673,289 (GRCm39) |
R44L |
possibly damaging |
Het |
| Dhx57 |
T |
A |
17: 80,576,300 (GRCm39) |
I597F |
probably damaging |
Het |
| Dnah17 |
G |
T |
11: 117,916,479 (GRCm39) |
F4231L |
possibly damaging |
Het |
| Dst |
T |
G |
1: 34,156,565 (GRCm39) |
L173R |
probably damaging |
Het |
| Fezf2 |
A |
T |
14: 12,343,687 (GRCm38) |
Y353N |
probably damaging |
Het |
| Ghrhr |
T |
A |
6: 55,360,395 (GRCm39) |
L247Q |
probably damaging |
Het |
| Gm10912 |
C |
T |
2: 103,897,197 (GRCm39) |
|
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,376,673 (GRCm39) |
L541H |
probably damaging |
Het |
| Gpld1 |
C |
T |
13: 25,127,682 (GRCm39) |
T28I |
probably damaging |
Het |
| Lmf2 |
A |
T |
15: 89,239,609 (GRCm39) |
|
probably null |
Het |
| Lratd2 |
T |
C |
15: 60,694,999 (GRCm39) |
D249G |
probably damaging |
Het |
| Mex3c |
A |
G |
18: 73,723,116 (GRCm39) |
N403S |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,073,105 (GRCm39) |
L246* |
probably null |
Het |
| Nlrp2 |
A |
T |
7: 5,330,551 (GRCm39) |
L615* |
probably null |
Het |
| Nlrp4c |
A |
T |
7: 6,087,647 (GRCm39) |
D760V |
probably benign |
Het |
| Nlrp4g |
T |
C |
9: 124,348,843 (GRCm38) |
|
noncoding transcript |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Nuggc |
T |
A |
14: 65,855,226 (GRCm39) |
|
probably benign |
Het |
| Or4c122 |
T |
C |
2: 89,080,042 (GRCm39) |
|
probably benign |
Het |
| Or52d1 |
C |
T |
7: 103,756,260 (GRCm39) |
T258I |
possibly damaging |
Het |
| Papolg |
T |
A |
11: 23,840,252 (GRCm39) |
I75F |
probably damaging |
Het |
| Pcdhgc5 |
A |
G |
18: 37,955,003 (GRCm39) |
Y759C |
probably damaging |
Het |
| Pdp2 |
A |
G |
8: 105,321,536 (GRCm39) |
K462E |
possibly damaging |
Het |
| Plod1 |
A |
T |
4: 147,997,747 (GRCm39) |
L654* |
probably null |
Het |
| Ppp4r3b |
G |
T |
11: 29,148,853 (GRCm39) |
G25* |
probably null |
Het |
| Ptch1 |
T |
C |
13: 63,659,732 (GRCm39) |
D1307G |
probably benign |
Het |
| Rbl2 |
T |
A |
8: 91,813,712 (GRCm39) |
L319Q |
probably damaging |
Het |
| Retnlg |
A |
G |
16: 48,693,255 (GRCm39) |
T11A |
probably benign |
Het |
| Rfc3 |
A |
T |
5: 151,566,381 (GRCm39) |
F356Y |
possibly damaging |
Het |
| Rnf213 |
G |
T |
11: 119,307,362 (GRCm39) |
C674F |
probably benign |
Het |
| Shcbp1l |
A |
G |
1: 153,304,411 (GRCm39) |
K157E |
probably benign |
Het |
| Slc22a17 |
A |
G |
14: 55,145,451 (GRCm39) |
C233R |
probably damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,834,511 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| St14 |
C |
A |
9: 31,001,329 (GRCm39) |
|
probably benign |
Het |
| Sympk |
G |
A |
7: 18,776,550 (GRCm39) |
V481M |
probably benign |
Het |
| Timeless |
T |
A |
10: 128,079,203 (GRCm39) |
L350Q |
probably damaging |
Het |
| Tnfrsf1a |
A |
G |
6: 125,337,729 (GRCm39) |
I229V |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,361,542 (GRCm39) |
H106L |
probably benign |
Het |
| Zbtb45 |
A |
T |
7: 12,740,204 (GRCm39) |
C470* |
probably null |
Het |
|
| Other mutations in Ranbp17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Ranbp17
|
APN |
11 |
33,443,402 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL00582:Ranbp17
|
APN |
11 |
33,454,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00698:Ranbp17
|
APN |
11 |
33,391,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00789:Ranbp17
|
APN |
11 |
33,193,249 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01304:Ranbp17
|
APN |
11 |
33,216,147 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01936:Ranbp17
|
APN |
11 |
33,437,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01937:Ranbp17
|
APN |
11 |
33,278,520 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01945:Ranbp17
|
APN |
11 |
33,278,520 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01993:Ranbp17
|
APN |
11 |
33,450,770 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02870:Ranbp17
|
APN |
11 |
33,193,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Ranbp17
|
APN |
11 |
33,193,183 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
PIT4445001:Ranbp17
|
UTSW |
11 |
33,431,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4480001:Ranbp17
|
UTSW |
11 |
33,247,340 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0079:Ranbp17
|
UTSW |
11 |
33,450,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0349:Ranbp17
|
UTSW |
11 |
33,450,689 (GRCm39) |
missense |
probably benign |
|
|
R0395:Ranbp17
|
UTSW |
11 |
33,424,896 (GRCm39) |
missense |
probably benign |
|
|
R1456:Ranbp17
|
UTSW |
11 |
33,216,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Ranbp17
|
UTSW |
11 |
33,247,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1542:Ranbp17
|
UTSW |
11 |
33,214,672 (GRCm39) |
missense |
probably benign |
|
|
R1770:Ranbp17
|
UTSW |
11 |
33,167,301 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2216:Ranbp17
|
UTSW |
11 |
33,431,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2656:Ranbp17
|
UTSW |
11 |
33,193,122 (GRCm39) |
missense |
probably benign |
|
|
R2883:Ranbp17
|
UTSW |
11 |
33,454,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3498:Ranbp17
|
UTSW |
11 |
33,169,203 (GRCm39) |
small deletion |
probably benign |
|
|
R3499:Ranbp17
|
UTSW |
11 |
33,169,203 (GRCm39) |
small deletion |
probably benign |
|
|
R3721:Ranbp17
|
UTSW |
11 |
33,169,203 (GRCm39) |
small deletion |
probably benign |
|
|
R3788:Ranbp17
|
UTSW |
11 |
33,169,203 (GRCm39) |
small deletion |
probably benign |
|
|
R3790:Ranbp17
|
UTSW |
11 |
33,169,203 (GRCm39) |
small deletion |
probably benign |
|
|
R3914:Ranbp17
|
UTSW |
11 |
33,429,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3915:Ranbp17
|
UTSW |
11 |
33,429,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3949:Ranbp17
|
UTSW |
11 |
33,429,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4021:Ranbp17
|
UTSW |
11 |
33,429,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4022:Ranbp17
|
UTSW |
11 |
33,429,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4027:Ranbp17
|
UTSW |
11 |
33,450,718 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4421:Ranbp17
|
UTSW |
11 |
33,425,056 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4462:Ranbp17
|
UTSW |
11 |
33,167,421 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4659:Ranbp17
|
UTSW |
11 |
33,216,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Ranbp17
|
UTSW |
11 |
33,437,746 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4837:Ranbp17
|
UTSW |
11 |
33,278,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Ranbp17
|
UTSW |
11 |
33,163,425 (GRCm39) |
missense |
probably benign |
|
|
R4939:Ranbp17
|
UTSW |
11 |
33,169,223 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5119:Ranbp17
|
UTSW |
11 |
33,354,181 (GRCm39) |
makesense |
probably null |
|
|
R5171:Ranbp17
|
UTSW |
11 |
33,167,419 (GRCm39) |
missense |
probably benign |
|
|
R5182:Ranbp17
|
UTSW |
11 |
33,169,287 (GRCm39) |
intron |
probably benign |
|
|
R5288:Ranbp17
|
UTSW |
11 |
33,169,241 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5384:Ranbp17
|
UTSW |
11 |
33,169,241 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5385:Ranbp17
|
UTSW |
11 |
33,169,241 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5398:Ranbp17
|
UTSW |
11 |
33,424,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6658:Ranbp17
|
UTSW |
11 |
33,169,214 (GRCm39) |
nonsense |
probably null |
|
|
R6701:Ranbp17
|
UTSW |
11 |
33,425,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6796:Ranbp17
|
UTSW |
11 |
33,167,398 (GRCm39) |
missense |
probably benign |
|
|
R6869:Ranbp17
|
UTSW |
11 |
33,463,074 (GRCm39) |
start gained |
probably benign |
|
|
R7096:Ranbp17
|
UTSW |
11 |
33,424,896 (GRCm39) |
missense |
probably benign |
|
|
R7156:Ranbp17
|
UTSW |
11 |
33,247,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7451:Ranbp17
|
UTSW |
11 |
33,234,114 (GRCm39) |
splice site |
probably null |
|
|
R7958:Ranbp17
|
UTSW |
11 |
33,437,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9348:Ranbp17
|
UTSW |
11 |
33,429,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9529:Ranbp17
|
UTSW |
11 |
33,424,826 (GRCm39) |
missense |
unknown |
|
|
RF016:Ranbp17
|
UTSW |
11 |
33,279,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0013:Ranbp17
|
UTSW |
11 |
33,239,562 (GRCm39) |
splice site |
probably null |
|
|
X0024:Ranbp17
|
UTSW |
11 |
33,163,404 (GRCm39) |
makesense |
probably null |
|
|
Z1176:Ranbp17
|
UTSW |
11 |
33,431,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation