Incidental Mutation 'R4659:Ranbp17'
| ID |
352695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ranbp17
|
| Ensembl Gene |
ENSMUSG00000040594 |
| Gene Name |
RAN binding protein 17 |
| Synonyms |
4932704E15Rik |
| MMRRC Submission |
041919-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4659 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
33161795-33463746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33216288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 820
(D820V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102815]
|
| AlphaFold |
Q99NF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102815
AA Change: D820V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: D820V
| 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 |
0.1557 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
96% (74/77) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
A |
6: 142,618,321 (GRCm39) |
|
probably null |
Het |
| Ankrd22 |
C |
T |
19: 34,102,968 (GRCm39) |
V118I |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,811,469 (GRCm39) |
N1114S |
possibly damaging |
Het |
| AU021092 |
C |
G |
16: 5,030,011 (GRCm39) |
A335P |
probably damaging |
Het |
| Carhsp1 |
T |
C |
16: 8,482,129 (GRCm39) |
T51A |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,306,325 (GRCm39) |
D152G |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,178,394 (GRCm39) |
D497E |
possibly damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,102 (GRCm39) |
N338S |
probably benign |
Het |
| Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,528,229 (GRCm39) |
*586K |
probably null |
Het |
| Cplane1 |
G |
T |
15: 8,245,760 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,384,085 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,595,201 (GRCm39) |
F1371S |
possibly damaging |
Het |
| Eif6 |
A |
G |
2: 155,668,101 (GRCm39) |
I46T |
probably damaging |
Het |
| Esco2 |
G |
A |
14: 66,064,035 (GRCm39) |
T383M |
possibly damaging |
Het |
| Exoc8 |
T |
C |
8: 125,624,271 (GRCm39) |
D32G |
probably damaging |
Het |
| Fam149b |
G |
T |
14: 20,417,941 (GRCm39) |
S216I |
probably benign |
Het |
| Fam219a |
T |
C |
4: 41,521,645 (GRCm39) |
D87G |
probably null |
Het |
| Fbxw26 |
A |
T |
9: 109,573,939 (GRCm39) |
V71D |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,798,487 (GRCm39) |
K164M |
probably damaging |
Het |
| Gm57858 |
T |
C |
3: 36,080,103 (GRCm39) |
D218G |
possibly damaging |
Het |
| Gm8603 |
G |
A |
17: 13,737,290 (GRCm39) |
|
noncoding transcript |
Het |
| Gnmt |
A |
G |
17: 47,036,892 (GRCm39) |
F239S |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,305,444 (GRCm39) |
D2V |
probably benign |
Het |
| Limch1 |
C |
T |
5: 67,184,900 (GRCm39) |
R797C |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,517,038 (GRCm39) |
F597I |
probably damaging |
Het |
| Lrriq3 |
T |
A |
3: 154,835,090 (GRCm39) |
I275N |
possibly damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,560,840 (GRCm39) |
S387R |
probably damaging |
Het |
| Mgst3 |
T |
A |
1: 167,204,848 (GRCm39) |
Q58L |
probably damaging |
Het |
| Mical1 |
G |
A |
10: 41,362,932 (GRCm39) |
|
probably benign |
Het |
| Mmp3 |
C |
A |
9: 7,453,673 (GRCm39) |
D431E |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,256,439 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,734,673 (GRCm39) |
L607P |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,899,456 (GRCm39) |
N153D |
probably damaging |
Het |
| Nfu1 |
A |
T |
6: 86,996,408 (GRCm39) |
T120S |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,564,699 (GRCm39) |
V341A |
possibly damaging |
Het |
| Notch1 |
T |
C |
2: 26,360,901 (GRCm39) |
E1148G |
probably damaging |
Het |
| Nqo1 |
C |
T |
8: 108,117,676 (GRCm39) |
|
probably null |
Het |
| Nwd1 |
T |
A |
8: 73,421,949 (GRCm39) |
D998E |
probably benign |
Het |
| Or8k18 |
G |
A |
2: 86,085,357 (GRCm39) |
Q227* |
probably null |
Het |
| Oxct2a |
T |
C |
4: 123,216,473 (GRCm39) |
I303V |
probably benign |
Het |
| Parp10 |
A |
T |
15: 76,127,185 (GRCm39) |
D58E |
probably damaging |
Het |
| Pcdha6 |
T |
A |
18: 37,102,292 (GRCm39) |
V495E |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,603,218 (GRCm39) |
S88R |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,044,552 (GRCm39) |
V510A |
probably benign |
Het |
| Sec24c |
G |
T |
14: 20,733,212 (GRCm39) |
G180C |
probably damaging |
Het |
| Serpina3n |
T |
C |
12: 104,379,752 (GRCm39) |
S382P |
probably benign |
Het |
| Sestd1 |
A |
T |
2: 77,042,843 (GRCm39) |
M237K |
probably null |
Het |
| Sf3a2 |
T |
C |
10: 80,639,418 (GRCm39) |
I136T |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,107,580 (GRCm39) |
Y197C |
probably benign |
Het |
| Speer4b |
T |
C |
5: 27,702,893 (GRCm39) |
K204E |
probably benign |
Het |
| Speer4f1 |
A |
C |
5: 17,681,221 (GRCm39) |
E33A |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,461,147 (GRCm39) |
D3529E |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 150,986,253 (GRCm39) |
D419G |
probably benign |
Het |
| Tg |
A |
G |
15: 66,545,769 (GRCm39) |
S164G |
possibly damaging |
Het |
| Thap12 |
A |
G |
7: 98,359,298 (GRCm39) |
|
probably benign |
Het |
| Thsd1 |
C |
A |
8: 22,749,314 (GRCm39) |
Y667* |
probably null |
Het |
| Tnks |
A |
C |
8: 35,316,465 (GRCm39) |
Y885D |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,391,102 (GRCm39) |
I896V |
probably benign |
Het |
| Txnip |
T |
G |
3: 96,466,743 (GRCm39) |
F190C |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,573,017 (GRCm39) |
D1005G |
probably damaging |
Het |
| Usp3 |
T |
C |
9: 66,434,352 (GRCm39) |
|
probably null |
Het |
| Usp54 |
G |
T |
14: 20,615,060 (GRCm39) |
Q794K |
probably damaging |
Het |
| Xrn2 |
A |
G |
2: 146,903,394 (GRCm39) |
Q798R |
probably benign |
Het |
| Zfp189 |
A |
G |
4: 49,530,342 (GRCm39) |
I482V |
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,396,506 (GRCm39) |
N314D |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,842,221 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TGTGAGACACTGAAAGCAGC -3'
(R):5'- TCCTACTCAACTAGAAAGTTCATCTTC -3'
Sequencing Primer
(F):5'- CATTTTGACAAAGGCCTGGAGTAC -3'
(R):5'- AATCCAGTTTGTGTTGCCCAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation