Incidental Mutation 'R1770:Ranbp17'
| ID |
196502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ranbp17
|
| Ensembl Gene |
ENSMUSG00000040594 |
| Gene Name |
RAN binding protein 17 |
| Synonyms |
4932704E15Rik |
| MMRRC Submission |
039801-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1770 (G1)
|
| Quality Score |
146 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
33161795-33463746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33167301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1054
(N1054S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102815]
|
| AlphaFold |
Q99NF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102815
AA Change: N1054S
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: N1054S
| 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 |
0.0716 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
92% (69/75) |
| 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 |
|---|
| Abcd4 |
T |
C |
12: 84,661,874 (GRCm39) |
T84A |
probably benign |
Het |
| Adgra1 |
T |
A |
7: 139,453,947 (GRCm39) |
Y161* |
probably null |
Het |
| Aldoart1 |
G |
T |
4: 72,770,173 (GRCm39) |
H212N |
probably benign |
Het |
| Aldob |
A |
G |
4: 49,536,861 (GRCm39) |
Y343H |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,391,235 (GRCm39) |
V2036E |
possibly damaging |
Het |
| Ass1 |
A |
G |
2: 31,376,528 (GRCm39) |
T131A |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,945,293 (GRCm39) |
R1354H |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,228,108 (GRCm39) |
V71A |
probably benign |
Het |
| C4b |
T |
A |
17: 34,955,901 (GRCm39) |
N678I |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,357,657 (GRCm39) |
L64P |
probably damaging |
Het |
| Cdh18 |
T |
C |
15: 23,474,487 (GRCm39) |
S786P |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,751,042 (GRCm39) |
E296G |
possibly damaging |
Het |
| Chml |
G |
A |
1: 175,515,444 (GRCm39) |
T159I |
probably benign |
Het |
| Cntn3 |
C |
T |
6: 102,246,166 (GRCm39) |
E328K |
possibly damaging |
Het |
| Cstf1 |
A |
G |
2: 172,214,983 (GRCm39) |
I35V |
possibly damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,070,642 (GRCm39) |
K275R |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dbx2 |
T |
C |
15: 95,522,615 (GRCm39) |
E364G |
probably benign |
Het |
| Dcaf13 |
A |
T |
15: 38,993,633 (GRCm39) |
N242I |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,579,470 (GRCm39) |
V701A |
probably benign |
Het |
| Elapor2 |
A |
T |
5: 9,468,021 (GRCm39) |
T230S |
probably benign |
Het |
| Fastkd5 |
A |
T |
2: 130,456,200 (GRCm39) |
Y797N |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,064,417 (GRCm39) |
I4791K |
probably damaging |
Het |
| Gm3852 |
T |
C |
1: 46,051,048 (GRCm39) |
I45V |
possibly damaging |
Het |
| Gng4 |
A |
G |
13: 13,999,851 (GRCm39) |
D40G |
probably damaging |
Het |
| Gns |
A |
G |
10: 121,213,952 (GRCm39) |
D209G |
probably benign |
Het |
| Kif6 |
C |
A |
17: 50,210,677 (GRCm39) |
Q791K |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,123,082 (GRCm39) |
V569M |
possibly damaging |
Het |
| Krt1c |
A |
G |
15: 101,719,589 (GRCm39) |
S694P |
unknown |
Het |
| Lrrc8c |
A |
G |
5: 105,754,603 (GRCm39) |
Y126C |
probably damaging |
Het |
| Mad2l1bp |
A |
G |
17: 46,463,838 (GRCm39) |
V62A |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,001 (GRCm39) |
R1907G |
unknown |
Het |
| Mertk |
A |
G |
2: 128,592,094 (GRCm39) |
I273V |
probably benign |
Het |
| Mfsd4b1 |
A |
G |
10: 39,879,223 (GRCm39) |
Y225H |
probably damaging |
Het |
| Mrc2 |
T |
C |
11: 105,229,619 (GRCm39) |
V684A |
probably damaging |
Het |
| Msh6 |
G |
A |
17: 88,287,651 (GRCm39) |
W97* |
probably null |
Het |
| Mtmr10 |
A |
G |
7: 63,986,469 (GRCm39) |
I516V |
possibly damaging |
Het |
| Myo7a |
A |
T |
7: 97,761,813 (GRCm39) |
|
probably benign |
Het |
| Ndufs5 |
T |
C |
4: 123,606,661 (GRCm39) |
Y92C |
probably benign |
Het |
| Nlrp1b |
C |
T |
11: 71,050,979 (GRCm39) |
V1035I |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,009,132 (GRCm39) |
R308G |
possibly damaging |
Het |
| Or12e13 |
A |
G |
2: 87,663,643 (GRCm39) |
I87V |
probably benign |
Het |
| Pcdhb16 |
G |
T |
18: 37,612,233 (GRCm39) |
G398W |
probably damaging |
Het |
| Plpbp |
T |
A |
8: 27,543,326 (GRCm39) |
S237T |
probably damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,584,634 (GRCm39) |
F769I |
possibly damaging |
Het |
| Polk |
A |
G |
13: 96,631,950 (GRCm39) |
V261A |
probably damaging |
Het |
| Prss52 |
C |
T |
14: 64,351,082 (GRCm39) |
A289V |
probably damaging |
Het |
| Puf60 |
T |
C |
15: 75,942,723 (GRCm39) |
K407E |
probably benign |
Het |
| Pzp |
T |
C |
6: 128,462,580 (GRCm39) |
D1455G |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,684,567 (GRCm39) |
S1965P |
probably benign |
Het |
| Spryd7 |
T |
C |
14: 61,777,654 (GRCm39) |
Y142C |
probably damaging |
Het |
| Srrt |
A |
T |
5: 137,298,122 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
A |
G |
11: 32,572,464 (GRCm39) |
E935G |
possibly damaging |
Het |
| Tas2r115 |
G |
A |
6: 132,714,934 (GRCm39) |
R6C |
probably damaging |
Het |
| Tdrd7 |
T |
A |
4: 45,987,681 (GRCm39) |
|
probably benign |
Het |
| Trim29 |
A |
T |
9: 43,243,673 (GRCm39) |
Q564L |
probably damaging |
Het |
| Trim5 |
T |
C |
7: 103,925,868 (GRCm39) |
D231G |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,487,787 (GRCm39) |
K676E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,583,859 (GRCm39) |
R22383G |
probably damaging |
Het |
| Ugt1a2 |
A |
G |
1: 88,129,160 (GRCm39) |
I268V |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,667,852 (GRCm39) |
N330D |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,351,040 (GRCm39) |
H2822Y |
probably damaging |
Het |
| Vmn1r176 |
G |
A |
7: 23,534,946 (GRCm39) |
A69V |
probably benign |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,560 (GRCm39) |
Y613C |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,686,857 (GRCm39) |
W296R |
probably damaging |
Het |
| Zfp11 |
G |
A |
5: 129,734,822 (GRCm39) |
T213I |
possibly damaging |
Het |
| Zfp142 |
A |
T |
1: 74,618,790 (GRCm39) |
F193I |
probably damaging |
Het |
| Zfp764 |
G |
A |
7: 127,004,739 (GRCm39) |
Q131* |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAATGACAGCATGAGTCGCC -3'
(R):5'- AGTTAAAACCTGAGCCTGACACTGC -3'
Sequencing Primer
(F):5'- cctgttggattataaactgcataaag -3'
(R):5'- GACACTGCTCTGTCTCCCAAC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation