Incidental Mutation 'R9348:Ranbp17'
| ID |
707930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ranbp17
|
| Ensembl Gene |
ENSMUSG00000040594 |
| Gene Name |
RAN binding protein 17 |
| Synonyms |
4932704E15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9348 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
33161795-33463746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33429232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 338
(T338A)
|
| 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: T338A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000035840
Gene: ENSMUSG00000040594
AA Change: T338A
| 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: T338A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: T338A
| 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: T338A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000137898
Gene: ENSMUSG00000040594
AA Change: T338A
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
30 |
95 |
3.24e-5 |
SMART |
|
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
C |
T |
8: 41,208,953 (GRCm39) |
P740S |
probably benign |
Het |
| Arfgef1 |
G |
T |
1: 10,283,419 (GRCm39) |
H163Q |
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,187,699 (GRCm39) |
D222E |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,490,155 (GRCm39) |
T165A |
|
Het |
| BC034090 |
A |
G |
1: 155,099,049 (GRCm39) |
S579P |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,160,766 (GRCm39) |
S546T |
probably benign |
Het |
| C4b |
C |
T |
17: 34,952,159 (GRCm39) |
V1229I |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,344,262 (GRCm39) |
D895G |
probably benign |
Het |
| Cby2 |
A |
G |
14: 75,820,838 (GRCm39) |
S296P |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,328,076 (GRCm39) |
S51P |
probably damaging |
Het |
| Cep164 |
T |
C |
9: 45,717,708 (GRCm39) |
H545R |
unknown |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Crlf1 |
T |
A |
8: 70,951,316 (GRCm39) |
I65K |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,421,256 (GRCm39) |
M1V |
probably null |
Het |
| Cyb5d1 |
T |
A |
11: 69,285,830 (GRCm39) |
I69L |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,337 (GRCm39) |
D213G |
probably benign |
Het |
| Dennd5a |
C |
G |
7: 109,498,930 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
T |
A |
7: 109,498,942 (GRCm39) |
M998L |
probably benign |
Het |
| E2f1 |
T |
A |
2: 154,402,755 (GRCm39) |
E382D |
probably benign |
Het |
| Enpep |
T |
A |
3: 129,102,772 (GRCm39) |
T395S |
probably benign |
Het |
| Gm20939 |
A |
G |
17: 95,182,977 (GRCm39) |
E71G |
probably damaging |
Het |
| Hs1bp3 |
T |
A |
12: 8,386,273 (GRCm39) |
V225E |
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,943,427 (GRCm39) |
M1T |
probably null |
Het |
| Ifi205 |
T |
C |
1: 173,844,997 (GRCm39) |
I262V |
probably benign |
Het |
| Iqce |
T |
C |
5: 140,677,380 (GRCm39) |
Y147C |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,538,003 (GRCm39) |
G120E |
probably damaging |
Het |
| Kif3c |
A |
G |
12: 3,417,505 (GRCm39) |
T509A |
probably benign |
Het |
| Napepld |
A |
T |
5: 21,875,490 (GRCm39) |
N351K |
probably benign |
Het |
| Ndufaf3 |
C |
A |
9: 108,443,357 (GRCm39) |
|
probably null |
Het |
| Nlrp9b |
C |
T |
7: 19,757,336 (GRCm39) |
T191I |
probably damaging |
Het |
| Oog2 |
T |
C |
4: 143,921,789 (GRCm39) |
L233P |
probably damaging |
Het |
| Or1a1b |
T |
A |
11: 74,097,289 (GRCm39) |
Y251F |
probably damaging |
Het |
| Or2g1 |
T |
C |
17: 38,106,992 (GRCm39) |
I219T |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or2w1 |
T |
A |
13: 21,317,131 (GRCm39) |
F62Y |
possibly damaging |
Het |
| Preb |
A |
G |
5: 31,112,995 (GRCm39) |
F416L |
probably benign |
Het |
| Prickle2 |
C |
T |
6: 92,397,243 (GRCm39) |
V217I |
probably benign |
Het |
| Prss45 |
T |
A |
9: 110,668,278 (GRCm39) |
I157N |
probably damaging |
Het |
| Snd1 |
T |
C |
6: 28,745,206 (GRCm39) |
F517S |
probably damaging |
Het |
| Srpk2 |
A |
T |
5: 23,719,671 (GRCm39) |
F578I |
probably damaging |
Het |
| Stx2 |
A |
T |
5: 129,076,601 (GRCm39) |
D27E |
probably benign |
Het |
| Tgfbrap1 |
A |
G |
1: 43,093,695 (GRCm39) |
I599T |
probably benign |
Het |
| Trim25 |
G |
T |
11: 88,900,167 (GRCm39) |
E305* |
probably null |
Het |
| Ttll7 |
T |
A |
3: 146,673,768 (GRCm39) |
I821N |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,089,358 (GRCm39) |
L612P |
probably damaging |
Het |
| Zcchc9 |
T |
A |
13: 91,954,186 (GRCm39) |
D23V |
|
Het |
| Zfp141 |
C |
A |
7: 42,124,814 (GRCm39) |
E553* |
probably null |
Het |
| Zfyve26 |
T |
C |
12: 79,315,231 (GRCm39) |
D1415G |
possibly damaging |
Het |
| Zpbp2 |
C |
T |
11: 98,442,141 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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'- TACCCATCTGCCACAGTCAG -3'
Sequencing Primer
(F):5'- GATACCCACCACTCTTTCATTACTAG -3'
(R):5'- CAGTCAGTGTGCATGAGAGCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation