Incidental Mutation 'IGL03018:Ranbp6'
| ID |
407969 |
| 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 # |
IGL03018
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
29785800-29790374 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29788789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 521
(V521A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099525]
|
| AlphaFold |
Q8BIV3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099525
AA Change: V521A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000100503
Gene: ENSMUSG00000074909
AA Change: V521A
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,752,451 (GRCm39) |
V474E |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,203,861 (GRCm39) |
D30E |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,129,031 (GRCm39) |
F394S |
probably damaging |
Het |
| Edem1 |
T |
C |
6: 108,806,103 (GRCm39) |
F135L |
probably damaging |
Het |
| Elf3 |
C |
T |
1: 135,183,803 (GRCm39) |
E239K |
possibly damaging |
Het |
| Farp1 |
C |
T |
14: 121,339,581 (GRCm39) |
A53V |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,834,717 (GRCm39) |
L400Q |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,318,189 (GRCm39) |
I109F |
possibly damaging |
Het |
| Lat2 |
A |
T |
5: 134,631,445 (GRCm39) |
I191N |
probably damaging |
Het |
| Mtf1 |
G |
A |
4: 124,732,456 (GRCm39) |
A505T |
probably benign |
Het |
| Naa30 |
G |
T |
14: 49,410,697 (GRCm39) |
E208D |
probably benign |
Het |
| Nlrp5 |
T |
C |
7: 23,117,172 (GRCm39) |
Y299H |
probably benign |
Het |
| Npc1 |
T |
A |
18: 12,347,436 (GRCm39) |
N195Y |
probably damaging |
Het |
| Or2f1 |
A |
G |
6: 42,721,748 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,277,163 (GRCm39) |
N40D |
probably damaging |
Het |
| Or5t16 |
T |
G |
2: 86,819,349 (GRCm39) |
Y57S |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,523 (GRCm39) |
M300T |
probably benign |
Het |
| Or7g19 |
A |
T |
9: 18,856,177 (GRCm39) |
I78F |
probably damaging |
Het |
| Pate12 |
A |
G |
9: 36,344,723 (GRCm39) |
T84A |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 93,253,012 (GRCm39) |
A1217V |
probably null |
Het |
| Pdhb |
C |
T |
14: 8,171,537 (GRCm38) |
|
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,865,993 (GRCm39) |
Y75H |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,175,563 (GRCm39) |
S748P |
probably damaging |
Het |
| Samd7 |
A |
G |
3: 30,816,294 (GRCm39) |
K347E |
probably damaging |
Het |
| Selenom |
A |
G |
11: 3,466,508 (GRCm39) |
D63G |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,501,520 (GRCm39) |
V487A |
possibly damaging |
Het |
| Tapt1 |
A |
T |
5: 44,361,666 (GRCm39) |
M109K |
probably damaging |
Het |
| Trib1 |
T |
C |
15: 59,526,333 (GRCm39) |
F301S |
probably damaging |
Het |
| Tspyl1 |
T |
C |
10: 34,159,112 (GRCm39) |
V279A |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,264,972 (GRCm39) |
V1184I |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,044 (GRCm39) |
I526V |
probably benign |
Het |
| Vtcn1 |
A |
G |
3: 100,791,226 (GRCm39) |
D88G |
probably damaging |
Het |
| Yod1 |
T |
G |
1: 130,646,695 (GRCm39) |
L191V |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation