Incidental Mutation 'IGL01945:Ranbp17'
| ID |
279227 |
| 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 # |
IGL01945
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
33161795-33463746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33278520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 116
(T116A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102815]
[ENSMUST00000129179]
[ENSMUST00000207401]
|
| AlphaFold |
Q99NF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102815
AA Change: T597A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: T597A
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
95 |
3.24e-5 |
SMART |
|
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129179
|
| SMART Domains |
Protein: ENSMUSP00000137898
Gene: ENSMUSG00000040594
| 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: ENSMUST00000154808
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207401
AA Change: T116A
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
C |
11: 109,974,130 (GRCm39) |
|
probably benign |
Het |
| Acta2 |
A |
G |
19: 34,229,254 (GRCm39) |
V45A |
probably benign |
Het |
| Adam11 |
G |
A |
11: 102,663,736 (GRCm39) |
V305M |
probably damaging |
Het |
| Adcy1 |
A |
G |
11: 7,111,891 (GRCm39) |
K919E |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,889,934 (GRCm39) |
T101A |
probably benign |
Het |
| Apbb2 |
T |
A |
5: 66,557,594 (GRCm39) |
D289V |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,650,612 (GRCm39) |
V520A |
possibly damaging |
Het |
| Atp5mc3 |
G |
A |
2: 73,741,313 (GRCm39) |
R9C |
probably benign |
Het |
| Atp8a2 |
A |
G |
14: 60,263,609 (GRCm39) |
L375P |
probably damaging |
Het |
| Cavin1 |
A |
T |
11: 100,861,246 (GRCm39) |
F16Y |
probably benign |
Het |
| Ccdc185 |
C |
A |
1: 182,576,441 (GRCm39) |
V83L |
probably benign |
Het |
| Ccdc80 |
T |
A |
16: 44,938,608 (GRCm39) |
S772T |
probably damaging |
Het |
| Cntn4 |
T |
A |
6: 106,414,865 (GRCm39) |
V132E |
probably damaging |
Het |
| Coa5 |
A |
T |
1: 37,468,979 (GRCm39) |
C24S |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,805,489 (GRCm39) |
V1139D |
unknown |
Het |
| Ddx46 |
C |
A |
13: 55,802,885 (GRCm39) |
S469* |
probably null |
Het |
| Ep300 |
A |
G |
15: 81,500,310 (GRCm39) |
|
probably benign |
Het |
| Fcna |
A |
T |
2: 25,517,847 (GRCm39) |
M1K |
probably null |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gstm3 |
T |
C |
3: 107,874,973 (GRCm39) |
E93G |
probably damaging |
Het |
| Gtse1 |
A |
G |
15: 85,755,748 (GRCm39) |
T471A |
probably benign |
Het |
| Hepacam2 |
T |
A |
6: 3,487,117 (GRCm39) |
Y4F |
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,651,320 (GRCm39) |
I1148V |
possibly damaging |
Het |
| Il1r2 |
A |
G |
1: 40,141,613 (GRCm39) |
T9A |
possibly damaging |
Het |
| Kl |
A |
T |
5: 150,912,402 (GRCm39) |
D717V |
probably damaging |
Het |
| Krt75 |
G |
A |
15: 101,478,599 (GRCm39) |
T345M |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,047,953 (GRCm39) |
H260Q |
probably damaging |
Het |
| Nckap1l |
G |
A |
15: 103,370,069 (GRCm39) |
G156D |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,072,233 (GRCm39) |
T537P |
probably damaging |
Het |
| Nudt17 |
A |
G |
3: 96,614,355 (GRCm39) |
I201T |
probably damaging |
Het |
| Or5k3 |
T |
C |
16: 58,969,827 (GRCm39) |
S205P |
probably benign |
Het |
| Or6c8 |
A |
T |
10: 128,915,172 (GRCm39) |
I220N |
probably damaging |
Het |
| Or7g27 |
A |
T |
9: 19,250,628 (GRCm39) |
S291C |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,469,235 (GRCm39) |
D35G |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,062,711 (GRCm39) |
Y107F |
probably benign |
Het |
| Plek2 |
T |
A |
12: 78,938,922 (GRCm39) |
H279L |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,535,588 (GRCm39) |
D470G |
possibly damaging |
Het |
| Rbck1 |
G |
A |
2: 152,160,236 (GRCm39) |
P481L |
probably damaging |
Het |
| Reps1 |
A |
G |
10: 17,969,584 (GRCm39) |
N229S |
probably benign |
Het |
| Rngtt |
T |
C |
4: 33,339,073 (GRCm39) |
W293R |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,759,114 (GRCm39) |
I376F |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,805,249 (GRCm39) |
I872F |
probably damaging |
Het |
| Sgip1 |
T |
C |
4: 102,823,439 (GRCm39) |
Y707H |
probably damaging |
Het |
| Slc17a5 |
G |
T |
9: 78,495,214 (GRCm39) |
D12E |
probably benign |
Het |
| Slco1a5 |
T |
A |
6: 142,189,715 (GRCm39) |
|
probably null |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Strap |
A |
G |
6: 137,718,333 (GRCm39) |
I146V |
probably benign |
Het |
| Tcim |
A |
T |
8: 24,928,892 (GRCm39) |
H7Q |
probably benign |
Het |
| Tgfbr3 |
A |
G |
5: 107,269,224 (GRCm39) |
|
probably null |
Het |
| Thada |
G |
T |
17: 84,530,194 (GRCm39) |
T1725N |
probably benign |
Het |
| Trhr |
T |
C |
15: 44,060,540 (GRCm39) |
V20A |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wnt5a |
A |
G |
14: 28,240,519 (GRCm39) |
N223S |
probably damaging |
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 |
|
IGL01993:Ranbp17
|
APN |
11 |
33,450,770 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02588:Ranbp17
|
APN |
11 |
33,167,361 (GRCm39) |
missense |
probably benign |
|
|
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