Incidental Mutation 'R3788:Ranbp17'
| ID |
272393 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3788 (G1)
|
| Quality Score |
206 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
33211795-33513746 bp(-) (GRCm38) |
| Type of Mutation |
small deletion (4 aa in frame mutation) |
| DNA Base Change (assembly) |
GCCTGGATACTGACC to GCC
at 33219203 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102815]
|
| AlphaFold |
Q99NF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102815
|
| SMART Domains |
Protein: ENSMUSP00000099879
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: ENSMUST00000131851
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610507B11Rik |
T |
A |
11: 78,288,297 (GRCm38) |
|
probably null |
Het |
| Abca4 |
T |
A |
3: 122,052,912 (GRCm38) |
V26E |
possibly damaging |
Het |
| Abhd16a |
A |
G |
17: 35,101,587 (GRCm38) |
N411S |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,702,153 (GRCm38) |
|
probably null |
Het |
| Aph1b |
T |
C |
9: 66,794,066 (GRCm38) |
|
probably benign |
Het |
| Aspm |
C |
T |
1: 139,463,203 (GRCm38) |
T742I |
probably damaging |
Het |
| Bclaf3 |
A |
G |
X: 159,566,496 (GRCm38) |
H619R |
probably benign |
Het |
| Cemip |
A |
T |
7: 83,943,898 (GRCm38) |
L1199H |
probably damaging |
Het |
| Chd2 |
G |
A |
7: 73,447,130 (GRCm38) |
|
probably benign |
Het |
| Clnk |
A |
G |
5: 38,714,998 (GRCm38) |
Y310H |
probably damaging |
Het |
| Crmp1 |
A |
G |
5: 37,284,140 (GRCm38) |
D522G |
probably damaging |
Het |
| Cyth3 |
A |
G |
5: 143,636,543 (GRCm38) |
|
probably benign |
Het |
| Dcbld1 |
T |
A |
10: 52,319,658 (GRCm38) |
Y392N |
probably damaging |
Het |
| Fam60a |
A |
G |
6: 148,926,119 (GRCm38) |
S134P |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,454,057 (GRCm38) |
F1820L |
probably damaging |
Het |
| Galnt18 |
G |
A |
7: 111,520,115 (GRCm38) |
R385* |
probably null |
Het |
| Gpatch3 |
C |
A |
4: 133,575,168 (GRCm38) |
R137S |
possibly damaging |
Het |
| Gpc6 |
C |
T |
14: 117,624,466 (GRCm38) |
P265S |
probably damaging |
Het |
| Harbi1 |
T |
A |
2: 91,720,607 (GRCm38) |
D308E |
probably benign |
Het |
| Hdhd2 |
G |
A |
18: 76,955,187 (GRCm38) |
|
probably null |
Het |
| Hk1 |
T |
C |
10: 62,275,688 (GRCm38) |
K737E |
possibly damaging |
Het |
| Hnrnpr |
G |
A |
4: 136,336,313 (GRCm38) |
V345M |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,220,240 (GRCm38) |
H944R |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,351,805 (GRCm38) |
C207S |
probably damaging |
Het |
| Kirrel |
C |
T |
3: 87,089,151 (GRCm38) |
M380I |
probably null |
Het |
| Krt75 |
C |
T |
15: 101,573,521 (GRCm38) |
G104D |
possibly damaging |
Het |
| Lnpk |
A |
T |
2: 74,522,263 (GRCm38) |
S358R |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,416,863 (GRCm38) |
T1512A |
probably damaging |
Het |
| March10 |
T |
A |
11: 105,397,079 (GRCm38) |
L132F |
probably damaging |
Het |
| Mfrp |
G |
A |
9: 44,105,457 (GRCm38) |
W65* |
probably null |
Het |
| Mgat5 |
A |
G |
1: 127,366,443 (GRCm38) |
D174G |
probably benign |
Het |
| Miga2 |
T |
A |
2: 30,371,225 (GRCm38) |
Y177* |
probably null |
Het |
| Mroh3 |
T |
C |
1: 136,185,475 (GRCm38) |
D747G |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,863,834 (GRCm38) |
T3506A |
possibly damaging |
Het |
| Myo7b |
G |
T |
18: 31,974,112 (GRCm38) |
P1277T |
possibly damaging |
Het |
| Naaa |
C |
T |
5: 92,272,554 (GRCm38) |
|
probably null |
Het |
| Ndufs2 |
T |
C |
1: 171,235,320 (GRCm38) |
D410G |
possibly damaging |
Het |
| Olfr506 |
T |
A |
7: 108,613,073 (GRCm38) |
Y255* |
probably null |
Het |
| Olfr559 |
A |
G |
7: 102,723,487 (GRCm38) |
|
probably null |
Het |
| Olfr873 |
A |
G |
9: 20,300,370 (GRCm38) |
I58V |
probably benign |
Het |
| Olfr955 |
A |
G |
9: 39,470,069 (GRCm38) |
I219T |
probably benign |
Het |
| Osbp |
A |
T |
19: 11,978,921 (GRCm38) |
Y409F |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 109,109,287 (GRCm38) |
V1303D |
possibly damaging |
Het |
| Prkcg |
G |
A |
7: 3,313,747 (GRCm38) |
D246N |
probably damaging |
Het |
| Sbf1 |
G |
A |
15: 89,299,528 (GRCm38) |
R1261* |
probably null |
Het |
| Scn4a |
T |
C |
11: 106,344,274 (GRCm38) |
N341S |
probably damaging |
Het |
| Sec61a2 |
C |
A |
2: 5,879,625 (GRCm38) |
|
probably null |
Het |
| Sgcd |
T |
A |
11: 47,355,205 (GRCm38) |
K57* |
probably null |
Het |
| Slc12a5 |
T |
C |
2: 164,993,775 (GRCm38) |
L861P |
probably damaging |
Het |
| Slc6a16 |
A |
G |
7: 45,259,962 (GRCm38) |
D184G |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,838,990 (GRCm38) |
|
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,745,922 (GRCm38) |
I1710V |
probably damaging |
Het |
| Sytl2 |
A |
T |
7: 90,376,081 (GRCm38) |
I426F |
probably benign |
Het |
| Tdp1 |
A |
G |
12: 99,891,752 (GRCm38) |
|
probably benign |
Het |
| Tmem232 |
C |
A |
17: 65,382,633 (GRCm38) |
D496Y |
possibly damaging |
Het |
| Tomm20l |
C |
T |
12: 71,111,742 (GRCm38) |
A58V |
possibly damaging |
Het |
| Ttc26 |
T |
A |
6: 38,403,524 (GRCm38) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,974,208 (GRCm38) |
V240A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,945,274 (GRCm38) |
E1854G |
unknown |
Het |
| Vmn2r98 |
A |
T |
17: 19,080,625 (GRCm38) |
T630S |
probably benign |
Het |
| Xrcc1 |
G |
C |
7: 24,566,908 (GRCm38) |
A220P |
probably benign |
Het |
|
| Other mutations in Ranbp17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Ranbp17
|
APN |
11 |
33,493,402 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL00582:Ranbp17
|
APN |
11 |
33,504,683 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00698:Ranbp17
|
APN |
11 |
33,441,910 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00789:Ranbp17
|
APN |
11 |
33,243,249 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL01304:Ranbp17
|
APN |
11 |
33,266,147 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL01936:Ranbp17
|
APN |
11 |
33,487,689 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01937:Ranbp17
|
APN |
11 |
33,328,520 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL01945:Ranbp17
|
APN |
11 |
33,328,520 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL01993:Ranbp17
|
APN |
11 |
33,500,770 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL02588:Ranbp17
|
APN |
11 |
33,217,361 (GRCm38) |
missense |
probably benign |
|
|
IGL02870:Ranbp17
|
APN |
11 |
33,243,262 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03149:Ranbp17
|
APN |
11 |
33,243,183 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
PIT4445001:Ranbp17
|
UTSW |
11 |
33,481,020 (GRCm38) |
critical splice donor site |
probably null |
|
|
PIT4480001:Ranbp17
|
UTSW |
11 |
33,297,340 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0079:Ranbp17
|
UTSW |
11 |
33,500,682 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0349:Ranbp17
|
UTSW |
11 |
33,500,689 (GRCm38) |
missense |
probably benign |
|
|
R0395:Ranbp17
|
UTSW |
11 |
33,474,896 (GRCm38) |
missense |
probably benign |
|
|
R1456:Ranbp17
|
UTSW |
11 |
33,266,310 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1539:Ranbp17
|
UTSW |
11 |
33,297,394 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1542:Ranbp17
|
UTSW |
11 |
33,264,672 (GRCm38) |
missense |
probably benign |
|
|
R1770:Ranbp17
|
UTSW |
11 |
33,217,301 (GRCm38) |
missense |
probably benign |
0.31 |
|
R2216:Ranbp17
|
UTSW |
11 |
33,481,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2656:Ranbp17
|
UTSW |
11 |
33,243,122 (GRCm38) |
missense |
probably benign |
|
|
R2883:Ranbp17
|
UTSW |
11 |
33,504,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3498:Ranbp17
|
UTSW |
11 |
33,219,203 (GRCm38) |
small deletion |
probably benign |
|
|
R3499:Ranbp17
|
UTSW |
11 |
33,219,203 (GRCm38) |
small deletion |
probably benign |
|
|
R3721:Ranbp17
|
UTSW |
11 |
33,219,203 (GRCm38) |
small deletion |
probably benign |
|
|
R3790:Ranbp17
|
UTSW |
11 |
33,219,203 (GRCm38) |
small deletion |
probably benign |
|
|
R3914:Ranbp17
|
UTSW |
11 |
33,479,189 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3915:Ranbp17
|
UTSW |
11 |
33,479,189 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3949:Ranbp17
|
UTSW |
11 |
33,479,189 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4021:Ranbp17
|
UTSW |
11 |
33,479,189 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4022:Ranbp17
|
UTSW |
11 |
33,479,189 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4027:Ranbp17
|
UTSW |
11 |
33,500,718 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R4421:Ranbp17
|
UTSW |
11 |
33,475,056 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4462:Ranbp17
|
UTSW |
11 |
33,217,421 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4659:Ranbp17
|
UTSW |
11 |
33,266,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4791:Ranbp17
|
UTSW |
11 |
33,487,746 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4837:Ranbp17
|
UTSW |
11 |
33,328,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4914:Ranbp17
|
UTSW |
11 |
33,213,425 (GRCm38) |
missense |
probably benign |
|
|
R4939:Ranbp17
|
UTSW |
11 |
33,219,223 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5119:Ranbp17
|
UTSW |
11 |
33,404,181 (GRCm38) |
makesense |
probably null |
|
|
R5171:Ranbp17
|
UTSW |
11 |
33,217,419 (GRCm38) |
missense |
probably benign |
|
|
R5182:Ranbp17
|
UTSW |
11 |
33,219,287 (GRCm38) |
intron |
probably benign |
|
|
R5288:Ranbp17
|
UTSW |
11 |
33,219,241 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5384:Ranbp17
|
UTSW |
11 |
33,219,241 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5385:Ranbp17
|
UTSW |
11 |
33,219,241 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5398:Ranbp17
|
UTSW |
11 |
33,474,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6658:Ranbp17
|
UTSW |
11 |
33,219,214 (GRCm38) |
nonsense |
probably null |
|
|
R6701:Ranbp17
|
UTSW |
11 |
33,475,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6796:Ranbp17
|
UTSW |
11 |
33,217,398 (GRCm38) |
missense |
probably benign |
|
|
R6869:Ranbp17
|
UTSW |
11 |
33,513,074 (GRCm38) |
start gained |
probably benign |
|
|
R7096:Ranbp17
|
UTSW |
11 |
33,474,896 (GRCm38) |
missense |
probably benign |
|
|
R7156:Ranbp17
|
UTSW |
11 |
33,297,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7451:Ranbp17
|
UTSW |
11 |
33,284,114 (GRCm38) |
splice site |
probably null |
|
|
R7958:Ranbp17
|
UTSW |
11 |
33,487,702 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9348:Ranbp17
|
UTSW |
11 |
33,479,232 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9529:Ranbp17
|
UTSW |
11 |
33,474,826 (GRCm38) |
missense |
unknown |
|
|
RF016:Ranbp17
|
UTSW |
11 |
33,329,511 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0013:Ranbp17
|
UTSW |
11 |
33,289,562 (GRCm38) |
splice site |
probably null |
|
|
X0024:Ranbp17
|
UTSW |
11 |
33,213,404 (GRCm38) |
makesense |
probably null |
|
|
Z1176:Ranbp17
|
UTSW |
11 |
33,481,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAGAACTGCCTTAGAATGGC -3'
(R):5'- TGCCATCAGAAAGGTGGCAG -3'
Sequencing Primer
(F):5'- CTGCCTTAGAATGGCAAGGC -3'
(R):5'- CATCAGAAAGGTGGCAGGATGG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation