Incidental Mutation 'IGL02020:Ranbp6'
| ID |
183928 |
| 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: 0.354)
|
| Stock # |
IGL02020
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
29785800-29790374 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29787176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1059
(I1059V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099525]
[ENSMUST00000177155]
|
| AlphaFold |
Q8BIV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099525
AA Change: I1059V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000100503
Gene: ENSMUSG00000074909
AA Change: I1059V
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175726
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177155
|
| SMART Domains |
Protein: ENSMUSP00000135473
Gene: ENSMUSG00000046138
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
66 |
N/A |
INTRINSIC |
|
BROMO
|
75 |
198 |
1.22e-3 |
SMART |
|
low complexity region
|
205 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
441 |
N/A |
INTRINSIC |
|
coiled coil region
|
606 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
689 |
N/A |
INTRINSIC |
|
coiled coil region
|
697 |
729 |
N/A |
INTRINSIC |
|
low complexity region
|
1079 |
1093 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1097 |
1226 |
1.32e-7 |
PROSPERO |
|
low complexity region
|
1228 |
1237 |
N/A |
INTRINSIC |
|
low complexity region
|
1319 |
1348 |
N/A |
INTRINSIC |
|
low complexity region
|
1401 |
1416 |
N/A |
INTRINSIC |
|
low complexity region
|
1535 |
1557 |
N/A |
INTRINSIC |
|
low complexity region
|
1580 |
1596 |
N/A |
INTRINSIC |
|
low complexity region
|
1665 |
1678 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1699 |
1843 |
1.32e-7 |
PROSPERO |
|
low complexity region
|
1920 |
1926 |
N/A |
INTRINSIC |
|
low complexity region
|
1946 |
1960 |
N/A |
INTRINSIC |
|
low complexity region
|
1986 |
2004 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
A |
T |
8: 84,659,577 (GRCm39) |
Q711L |
probably benign |
Het |
| Atg9b |
A |
C |
5: 24,596,056 (GRCm39) |
N205K |
possibly damaging |
Het |
| Brinp3 |
T |
C |
1: 146,777,865 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
G |
1: 110,066,078 (GRCm39) |
Y784C |
probably damaging |
Het |
| Csmd2 |
T |
A |
4: 128,453,672 (GRCm39) |
D142E |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,517,269 (GRCm39) |
L880P |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,637,882 (GRCm39) |
T319A |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,793,877 (GRCm39) |
T46A |
probably benign |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,345 (GRCm39) |
C41R |
probably damaging |
Het |
| Itga3 |
C |
T |
11: 94,948,216 (GRCm39) |
V539I |
probably benign |
Het |
| Kif13a |
T |
A |
13: 46,947,495 (GRCm39) |
I830F |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,397,013 (GRCm39) |
N1110S |
probably damaging |
Het |
| Or5m11b |
A |
G |
2: 85,805,579 (GRCm39) |
|
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,266,900 (GRCm39) |
|
probably null |
Het |
| Phpt1 |
T |
C |
2: 25,464,221 (GRCm39) |
I87M |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,426,822 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,315,769 (GRCm39) |
E2163G |
probably damaging |
Het |
| Runx2 |
C |
T |
17: 44,969,486 (GRCm39) |
G253D |
probably damaging |
Het |
| S100a5 |
A |
G |
3: 90,517,121 (GRCm39) |
|
probably benign |
Het |
| Skint1 |
T |
A |
4: 111,882,724 (GRCm39) |
M256K |
probably benign |
Het |
| Slc9a3 |
C |
T |
13: 74,306,967 (GRCm39) |
A364V |
probably damaging |
Het |
| Srsf3-ps |
C |
A |
11: 98,516,335 (GRCm39) |
V13L |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,850,572 (GRCm39) |
R879Q |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,687,780 (GRCm39) |
T588A |
possibly damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,200 (GRCm39) |
V43E |
possibly damaging |
Het |
| Washc4 |
T |
C |
10: 83,400,336 (GRCm39) |
S421P |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wwp2 |
G |
A |
8: 108,283,127 (GRCm39) |
R354Q |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,819,118 (GRCm39) |
Q1315L |
probably damaging |
Het |
|
| Other mutations in Ranbp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02665:Ranbp6
|
APN |
19 |
29,790,301 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
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 |
2014-05-07 |
Incidental Mutation