Incidental Mutation 'IGL01936:Ranbp17'
| ID |
180659 |
| 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 # |
IGL01936
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
33161795-33463746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33437689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 183
(T183I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037522]
[ENSMUST00000102815]
[ENSMUST00000129179]
[ENSMUST00000147751]
|
| AlphaFold |
Q99NF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037522
AA Change: T183I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000035840
Gene: ENSMUSG00000040594
AA Change: T183I
| 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: ENSMUST00000102815
AA Change: T183I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: T183I
| 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
AA Change: T183I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000137898
Gene: ENSMUSG00000040594
AA Change: T183I
| 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: ENSMUST00000147751
AA Change: T178I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118519
Gene: ENSMUSG00000040594
AA Change: T178I
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
25 |
90 |
3.24e-5 |
SMART |
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
A |
5: 90,009,282 (GRCm39) |
H127L |
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,244,579 (GRCm39) |
V419A |
possibly damaging |
Het |
| Arhgap31 |
T |
A |
16: 38,423,287 (GRCm39) |
L926F |
probably damaging |
Het |
| Asgr2 |
A |
T |
11: 69,988,877 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
T |
A |
6: 122,828,194 (GRCm39) |
T8S |
probably benign |
Het |
| Caskin2 |
T |
C |
11: 115,695,543 (GRCm39) |
I273V |
probably damaging |
Het |
| Ccnl2 |
T |
A |
4: 155,904,856 (GRCm39) |
C242S |
probably damaging |
Het |
| Cdkn2a |
A |
T |
4: 89,212,569 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
G |
1: 172,361,616 (GRCm39) |
M231R |
probably damaging |
Het |
| Clcn7 |
A |
C |
17: 25,374,350 (GRCm39) |
N464H |
probably benign |
Het |
| Col20a1 |
T |
A |
2: 180,651,161 (GRCm39) |
|
probably benign |
Het |
| Col7a1 |
T |
A |
9: 108,797,067 (GRCm39) |
|
probably benign |
Het |
| Cops7a |
T |
C |
6: 124,939,379 (GRCm39) |
D90G |
probably benign |
Het |
| Ctcf |
T |
C |
8: 106,396,864 (GRCm39) |
V363A |
probably benign |
Het |
| Cyp2j12 |
A |
G |
4: 96,021,306 (GRCm39) |
V100A |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,736,800 (GRCm39) |
F1085Y |
possibly damaging |
Het |
| Drc7 |
T |
A |
8: 95,800,760 (GRCm39) |
F594Y |
possibly damaging |
Het |
| Ehbp1l1 |
C |
A |
19: 5,768,277 (GRCm39) |
E1009* |
probably null |
Het |
| Epg5 |
C |
A |
18: 78,028,316 (GRCm39) |
R1286S |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,885,060 (GRCm39) |
|
probably benign |
Het |
| Exosc7 |
T |
C |
9: 122,964,956 (GRCm39) |
|
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,496,747 (GRCm39) |
D610G |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,033,923 (GRCm39) |
M2525K |
probably benign |
Het |
| Gimap5 |
G |
T |
6: 48,729,999 (GRCm39) |
A190S |
probably damaging |
Het |
| Glcci1 |
T |
A |
6: 8,579,596 (GRCm39) |
S79T |
probably damaging |
Het |
| Gpnmb |
C |
T |
6: 49,024,384 (GRCm39) |
T233I |
probably null |
Het |
| Hdac1-ps |
T |
C |
17: 78,799,558 (GRCm39) |
V183A |
probably damaging |
Het |
| Hyls1 |
T |
C |
9: 35,473,363 (GRCm39) |
I18V |
probably benign |
Het |
| Ighv1-63 |
C |
T |
12: 115,459,274 (GRCm39) |
E108K |
probably damaging |
Het |
| Ighv5-12 |
C |
A |
12: 113,665,927 (GRCm39) |
R57L |
probably damaging |
Het |
| Igkv5-37 |
T |
C |
6: 69,940,323 (GRCm39) |
Y107C |
probably damaging |
Het |
| Il20ra |
T |
A |
10: 19,631,591 (GRCm39) |
V264D |
probably damaging |
Het |
| Jph1 |
A |
T |
1: 17,167,608 (GRCm39) |
V74E |
probably damaging |
Het |
| Kcnab1 |
C |
T |
3: 65,265,695 (GRCm39) |
L280F |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,826 (GRCm39) |
F144S |
probably damaging |
Het |
| Kcnq1 |
G |
A |
7: 142,738,241 (GRCm39) |
E294K |
possibly damaging |
Het |
| Kdm4b |
T |
A |
17: 56,704,355 (GRCm39) |
V813E |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,949,439 (GRCm39) |
F1937I |
probably damaging |
Het |
| Ldb2 |
G |
A |
5: 44,637,586 (GRCm39) |
R241W |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,288,319 (GRCm39) |
N703S |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,688,032 (GRCm39) |
M227L |
possibly damaging |
Het |
| Mbnl1 |
T |
A |
3: 60,520,940 (GRCm39) |
M268K |
possibly damaging |
Het |
| Mcm2 |
C |
A |
6: 88,868,708 (GRCm39) |
G350C |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,082,599 (GRCm39) |
T1390S |
possibly damaging |
Het |
| Npat |
T |
A |
9: 53,469,526 (GRCm39) |
|
probably benign |
Het |
| Nr2e1 |
T |
A |
10: 42,443,969 (GRCm39) |
D251V |
possibly damaging |
Het |
| Or1x2 |
A |
G |
11: 50,918,162 (GRCm39) |
N111S |
probably benign |
Het |
| Or4d10 |
C |
T |
19: 12,051,421 (GRCm39) |
V192I |
probably benign |
Het |
| Or5b107 |
C |
A |
19: 13,142,767 (GRCm39) |
P130T |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,470,621 (GRCm39) |
H87Q |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,529,256 (GRCm39) |
V368A |
probably damaging |
Het |
| Psmb8 |
T |
A |
17: 34,419,168 (GRCm39) |
L154Q |
probably damaging |
Het |
| Rab40c |
A |
C |
17: 26,103,644 (GRCm39) |
C140G |
probably damaging |
Het |
| Ruvbl2 |
T |
C |
7: 45,078,122 (GRCm39) |
E117G |
probably damaging |
Het |
| Serpinb3b |
T |
A |
1: 107,082,368 (GRCm39) |
M299L |
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,678,530 (GRCm39) |
H111R |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,452,821 (GRCm39) |
P2843H |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,144,908 (GRCm39) |
T389A |
probably benign |
Het |
| Synrg |
T |
A |
11: 83,910,531 (GRCm39) |
F1000Y |
probably benign |
Het |
| Thbs2 |
C |
T |
17: 14,908,076 (GRCm39) |
S229N |
probably benign |
Het |
| Thsd1 |
G |
A |
8: 22,742,247 (GRCm39) |
C305Y |
probably damaging |
Het |
| Ticrr |
C |
A |
7: 79,344,297 (GRCm39) |
D1387E |
probably benign |
Het |
| Tmem145 |
G |
T |
7: 25,010,816 (GRCm39) |
A383S |
probably damaging |
Het |
| Tmprss4 |
A |
G |
9: 45,090,718 (GRCm39) |
V187A |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,600,524 (GRCm39) |
M1407L |
probably benign |
Het |
| Vps39 |
C |
T |
2: 120,153,609 (GRCm39) |
G655D |
probably benign |
Het |
| Wwtr1 |
T |
C |
3: 57,482,241 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,930,397 (GRCm39) |
S1535P |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation