Incidental Mutation 'R4021:Ranbp17'
| ID |
313250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ranbp17
|
| Ensembl Gene |
ENSMUSG00000040594 |
| Gene Name |
RAN binding protein 17 |
| Synonyms |
4932704E15Rik |
| MMRRC Submission |
040955-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4021 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
33161795-33463746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33429189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 352
(A352V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037522]
[ENSMUST00000102815]
[ENSMUST00000129179]
|
| AlphaFold |
Q99NF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037522
AA Change: A352V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000035840
Gene: ENSMUSG00000040594
AA Change: A352V
| 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: A352V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: A352V
| 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: A352V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137898
Gene: ENSMUSG00000040594
AA Change: A352V
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
95 |
3.24e-5 |
SMART |
|
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008P02Rik |
A |
G |
3: 6,685,148 (GRCm39) |
L102P |
probably benign |
Het |
| Adcy4 |
C |
T |
14: 56,012,635 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
A |
T |
17: 43,741,605 (GRCm39) |
|
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,892,938 (GRCm39) |
K643R |
probably benign |
Het |
| Cacna2d2 |
C |
T |
9: 107,391,257 (GRCm39) |
T428M |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,985,593 (GRCm39) |
D331G |
possibly damaging |
Het |
| Chmp3 |
T |
C |
6: 71,551,222 (GRCm39) |
|
probably null |
Het |
| Csnk2a1 |
C |
T |
2: 152,100,609 (GRCm39) |
T127M |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 39,023,878 (GRCm39) |
|
probably null |
Het |
| Ddias |
G |
T |
7: 92,510,686 (GRCm39) |
D105E |
possibly damaging |
Het |
| Dnajb11 |
A |
G |
16: 22,688,196 (GRCm39) |
D238G |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,892,157 (GRCm39) |
|
probably null |
Het |
| Dock9 |
T |
C |
14: 121,864,324 (GRCm39) |
K761E |
possibly damaging |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Fam107b |
G |
A |
2: 3,779,511 (GRCm39) |
R238Q |
probably damaging |
Het |
| Fam186a |
G |
C |
15: 99,839,680 (GRCm39) |
T2188S |
possibly damaging |
Het |
| Farsa |
A |
G |
8: 85,595,499 (GRCm39) |
T465A |
probably damaging |
Het |
| Fibp |
T |
C |
19: 5,510,762 (GRCm39) |
|
probably null |
Het |
| Flywch2 |
G |
A |
17: 23,996,013 (GRCm39) |
T128I |
possibly damaging |
Het |
| Foxi2 |
A |
T |
7: 135,012,259 (GRCm39) |
D49V |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,536,282 (GRCm39) |
T31A |
probably benign |
Het |
| Gabbr2 |
G |
A |
4: 46,846,435 (GRCm39) |
T158I |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,268,789 (GRCm39) |
R455W |
probably damaging |
Het |
| Got2 |
T |
G |
8: 96,604,381 (GRCm39) |
D69A |
probably damaging |
Het |
| Gpr63 |
T |
C |
4: 25,008,470 (GRCm39) |
F398S |
possibly damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,981,556 (GRCm39) |
M186V |
probably benign |
Het |
| Haus2 |
A |
T |
2: 120,446,411 (GRCm39) |
Q111L |
probably damaging |
Het |
| Hexd |
T |
C |
11: 121,108,987 (GRCm39) |
|
probably null |
Het |
| Igf2r |
T |
A |
17: 12,967,638 (GRCm39) |
N27I |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,732,311 (GRCm39) |
|
probably null |
Het |
| Krit1 |
T |
A |
5: 3,882,132 (GRCm39) |
I596K |
probably benign |
Het |
| Lair1 |
A |
G |
7: 4,058,915 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
G |
T |
7: 3,914,417 (GRCm39) |
T276K |
probably benign |
Het |
| Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
| Mrgprb1 |
A |
T |
7: 48,096,871 (GRCm39) |
I347N |
possibly damaging |
Het |
| Mroh2b |
T |
A |
15: 4,954,582 (GRCm39) |
C682S |
possibly damaging |
Het |
| Mtif3 |
T |
A |
5: 146,892,488 (GRCm39) |
R249S |
possibly damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,389,593 (GRCm39) |
E3406K |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,764,331 (GRCm39) |
H1315R |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,328,011 (GRCm39) |
F681L |
probably benign |
Het |
| Or2ag19 |
T |
A |
7: 106,444,226 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5l14 |
T |
A |
2: 87,793,066 (GRCm39) |
T57S |
possibly damaging |
Het |
| Pear1 |
T |
C |
3: 87,663,529 (GRCm39) |
N390D |
possibly damaging |
Het |
| Rnf17 |
C |
T |
14: 56,697,458 (GRCm39) |
H451Y |
probably damaging |
Het |
| Sag |
A |
T |
1: 87,749,027 (GRCm39) |
|
probably null |
Het |
| Septin4 |
A |
G |
11: 87,458,106 (GRCm39) |
E160G |
probably damaging |
Het |
| Slc22a2 |
T |
C |
17: 12,803,376 (GRCm39) |
L70P |
probably damaging |
Het |
| Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
T |
3: 99,956,546 (GRCm39) |
I881F |
probably benign |
Het |
| Taar7a |
G |
T |
10: 23,869,284 (GRCm39) |
N32K |
probably benign |
Het |
| Tbck |
C |
A |
3: 132,432,895 (GRCm39) |
T435K |
probably damaging |
Het |
| Tril |
T |
G |
6: 53,796,004 (GRCm39) |
D406A |
probably damaging |
Het |
| Tshz2 |
G |
A |
2: 169,727,782 (GRCm39) |
D324N |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,801,631 (GRCm39) |
V2349A |
possibly damaging |
Het |
| Wdr6 |
A |
G |
9: 108,452,405 (GRCm39) |
W493R |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,058,875 (GRCm39) |
V323I |
probably benign |
Het |
| Zfp488 |
T |
A |
14: 33,693,110 (GRCm39) |
M18L |
probably benign |
Het |
| Zic4 |
A |
G |
9: 91,261,089 (GRCm39) |
T108A |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,231,278 (GRCm39) |
D745G |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTACATAGACTTCGATACCCACC -3'
(R):5'- AGTCAGTGTGCATGAGAGCC -3'
Sequencing Primer
(F):5'- GATACCCACCACTCTTTCATTACTAG -3'
(R):5'- TGTGCATGAGAGCCAGGGC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation