Incidental Mutation 'IGL02665:Ranbp6'
| ID |
302701 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ranbp6
|
| Ensembl Gene |
ENSMUSG00000074909 |
| Gene Name |
RAN binding protein 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
IGL02665
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
29785800-29790374 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29790301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 17
(Q17L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099525]
|
| AlphaFold |
Q8BIV3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099525
AA Change: Q17L
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000100503
Gene: ENSMUSG00000074909
AA Change: Q17L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
78 |
N/A |
INTRINSIC |
|
Pfam:HEAT_2
|
367 |
475 |
2.4e-12 |
PFAM |
|
Pfam:HEAT_EZ
|
380 |
434 |
1.1e-9 |
PFAM |
|
Pfam:HEAT
|
409 |
438 |
8.3e-7 |
PFAM |
|
Pfam:HEAT
|
916 |
944 |
1.1e-6 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cenpc1 |
T |
C |
5: 86,194,262 (GRCm39) |
N168S |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,237,928 (GRCm39) |
|
probably benign |
Het |
| Defb20 |
A |
G |
2: 152,321,496 (GRCm39) |
Y91C |
probably damaging |
Het |
| Dio2 |
T |
C |
12: 90,696,427 (GRCm39) |
D187G |
possibly damaging |
Het |
| Fat4 |
G |
A |
3: 39,056,985 (GRCm39) |
R4227Q |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,823,407 (GRCm39) |
G6380D |
probably damaging |
Het |
| Gm5916 |
A |
T |
9: 36,039,962 (GRCm39) |
F9I |
possibly damaging |
Het |
| Havcr2 |
T |
A |
11: 46,370,221 (GRCm39) |
V216E |
probably benign |
Het |
| Hdac7 |
G |
A |
15: 97,694,838 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,130,600 (GRCm39) |
|
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,440,227 (GRCm39) |
|
probably null |
Het |
| Lcn3 |
G |
A |
2: 25,656,416 (GRCm39) |
A99T |
possibly damaging |
Het |
| Lox |
T |
A |
18: 52,658,316 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,866,742 (GRCm39) |
S1000P |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,344,823 (GRCm39) |
F98S |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,443,996 (GRCm39) |
Y1835H |
probably damaging |
Het |
| Pnpla3 |
A |
G |
15: 84,055,406 (GRCm39) |
D104G |
probably benign |
Het |
| Rab3ip |
T |
A |
10: 116,773,453 (GRCm39) |
Q120L |
probably benign |
Het |
| Serpinb9g |
T |
C |
13: 33,679,086 (GRCm39) |
C319R |
possibly damaging |
Het |
| Ska3 |
T |
C |
14: 58,059,529 (GRCm39) |
K99E |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,140,075 (GRCm39) |
S1330R |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,215,205 (GRCm39) |
M396K |
probably damaging |
Het |
| Vmn2r87 |
T |
G |
10: 130,333,049 (GRCm39) |
D67A |
probably benign |
Het |
|
| Other mutations in Ranbp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02020:Ranbp6
|
APN |
19 |
29,787,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02943:Ranbp6
|
APN |
19 |
29,789,524 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03018:Ranbp6
|
APN |
19 |
29,788,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03219:Ranbp6
|
APN |
19 |
29,787,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Ranbp6
|
UTSW |
19 |
29,787,097 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0412:Ranbp6
|
UTSW |
19 |
29,789,483 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1171:Ranbp6
|
UTSW |
19 |
29,789,679 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1521:Ranbp6
|
UTSW |
19 |
29,788,846 (GRCm39) |
missense |
probably benign |
|
|
R1967:Ranbp6
|
UTSW |
19 |
29,789,900 (GRCm39) |
nonsense |
probably null |
|
|
R2257:Ranbp6
|
UTSW |
19 |
29,788,949 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4490:Ranbp6
|
UTSW |
19 |
29,787,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Ranbp6
|
UTSW |
19 |
29,788,263 (GRCm39) |
nonsense |
probably null |
|
|
R4625:Ranbp6
|
UTSW |
19 |
29,788,263 (GRCm39) |
nonsense |
probably null |
|
|
R4626:Ranbp6
|
UTSW |
19 |
29,788,263 (GRCm39) |
nonsense |
probably null |
|
|
R4649:Ranbp6
|
UTSW |
19 |
29,787,721 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4709:Ranbp6
|
UTSW |
19 |
29,788,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4777:Ranbp6
|
UTSW |
19 |
29,789,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4895:Ranbp6
|
UTSW |
19 |
29,787,175 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5362:Ranbp6
|
UTSW |
19 |
29,789,128 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5379:Ranbp6
|
UTSW |
19 |
29,789,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5617:Ranbp6
|
UTSW |
19 |
29,789,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Ranbp6
|
UTSW |
19 |
29,790,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7091:Ranbp6
|
UTSW |
19 |
29,790,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7234:Ranbp6
|
UTSW |
19 |
29,789,462 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7664:Ranbp6
|
UTSW |
19 |
29,789,476 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7904:Ranbp6
|
UTSW |
19 |
29,789,813 (GRCm39) |
missense |
probably benign |
|
|
R7915:Ranbp6
|
UTSW |
19 |
29,790,073 (GRCm39) |
missense |
probably benign |
|
|
R8023:Ranbp6
|
UTSW |
19 |
29,789,222 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8366:Ranbp6
|
UTSW |
19 |
29,789,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9037:Ranbp6
|
UTSW |
19 |
29,790,317 (GRCm39) |
missense |
probably benign |
|
|
R9269:Ranbp6
|
UTSW |
19 |
29,787,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9461:Ranbp6
|
UTSW |
19 |
29,787,163 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
X0024:Ranbp6
|
UTSW |
19 |
29,789,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation