Incidental Mutation 'IGL03170:Ranbp3l'
ID |
411813 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ranbp3l
|
Ensembl Gene |
ENSMUSG00000048424 |
Gene Name |
RAN binding protein 3-like |
Synonyms |
C130037N17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
IGL03170
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
8997433-9067417 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 9029611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 31
(E31V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053308]
[ENSMUST00000166524]
|
AlphaFold |
Q6PDH4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053308
AA Change: E31V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000055750 Gene: ENSMUSG00000048424 AA Change: E31V
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
31 |
N/A |
INTRINSIC |
low complexity region
|
118 |
129 |
N/A |
INTRINSIC |
low complexity region
|
191 |
197 |
N/A |
INTRINSIC |
RanBD
|
302 |
430 |
4.52e-13 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166524
AA Change: E31V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130916 Gene: ENSMUSG00000048424 AA Change: E31V
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
31 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228227
|
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 |
Cand2 |
A |
G |
6: 115,774,861 (GRCm39) |
D1023G |
probably damaging |
Het |
Ccn1 |
C |
A |
3: 145,355,514 (GRCm39) |
A12S |
probably benign |
Het |
Cyp2c54 |
A |
G |
19: 40,060,809 (GRCm39) |
|
probably null |
Het |
Cyp4f37 |
C |
T |
17: 32,844,093 (GRCm39) |
|
probably benign |
Het |
Entpd2 |
T |
C |
2: 25,289,493 (GRCm39) |
F325S |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,818,261 (GRCm38) |
I37T |
possibly damaging |
Het |
Gtpbp10 |
A |
G |
5: 5,605,355 (GRCm39) |
V116A |
probably benign |
Het |
H2-T9 |
C |
T |
17: 36,439,605 (GRCm39) |
G125E |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,587,456 (GRCm39) |
N164I |
unknown |
Het |
Nle1 |
T |
A |
11: 82,795,096 (GRCm39) |
T312S |
probably benign |
Het |
Or10ab5 |
T |
C |
7: 108,245,307 (GRCm39) |
I159V |
probably benign |
Het |
Pim1 |
T |
A |
17: 29,710,152 (GRCm39) |
L12Q |
possibly damaging |
Het |
Plb1 |
G |
T |
5: 32,442,246 (GRCm39) |
C246F |
probably damaging |
Het |
Ppp4r4 |
T |
C |
12: 103,557,033 (GRCm39) |
|
probably benign |
Het |
Prl6a1 |
T |
A |
13: 27,499,406 (GRCm39) |
V63D |
possibly damaging |
Het |
Ptprz1 |
G |
A |
6: 22,959,766 (GRCm39) |
A88T |
probably benign |
Het |
Relch |
C |
T |
1: 105,663,680 (GRCm39) |
T943I |
probably damaging |
Het |
Rgs9 |
G |
A |
11: 109,150,681 (GRCm39) |
T209I |
probably benign |
Het |
Smg8 |
A |
G |
11: 86,977,434 (GRCm39) |
V49A |
probably damaging |
Het |
Smim6 |
A |
T |
11: 115,804,314 (GRCm39) |
T34S |
possibly damaging |
Het |
Snw1 |
T |
G |
12: 87,519,022 (GRCm39) |
T4P |
probably benign |
Het |
Sod2 |
C |
A |
17: 13,227,257 (GRCm39) |
H70Q |
probably benign |
Het |
Tro |
A |
G |
X: 149,438,556 (GRCm39) |
S34P |
probably benign |
Het |
Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
Uggt1 |
A |
C |
1: 36,202,342 (GRCm39) |
V1085G |
probably damaging |
Het |
Vmn1r21 |
A |
G |
6: 57,820,847 (GRCm39) |
V199A |
probably damaging |
Het |
Xkr9 |
T |
C |
1: 13,771,036 (GRCm39) |
I184T |
possibly damaging |
Het |
Zfp369 |
T |
C |
13: 65,442,224 (GRCm39) |
S273P |
probably damaging |
Het |
Zpld2 |
C |
T |
4: 133,920,345 (GRCm39) |
V607I |
possibly damaging |
Het |
|
Other mutations in Ranbp3l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01746:Ranbp3l
|
APN |
15 |
9,063,167 (GRCm39) |
nonsense |
probably null |
|
IGL01982:Ranbp3l
|
APN |
15 |
9,058,827 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02549:Ranbp3l
|
APN |
15 |
8,997,925 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03338:Ranbp3l
|
APN |
15 |
9,060,940 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4791001:Ranbp3l
|
UTSW |
15 |
9,060,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R0137:Ranbp3l
|
UTSW |
15 |
9,063,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R0383:Ranbp3l
|
UTSW |
15 |
9,063,184 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0699:Ranbp3l
|
UTSW |
15 |
9,058,850 (GRCm39) |
critical splice donor site |
probably null |
|
R1517:Ranbp3l
|
UTSW |
15 |
9,065,081 (GRCm39) |
nonsense |
probably null |
|
R1629:Ranbp3l
|
UTSW |
15 |
9,065,068 (GRCm39) |
missense |
probably damaging |
0.99 |
R1922:Ranbp3l
|
UTSW |
15 |
9,057,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R2058:Ranbp3l
|
UTSW |
15 |
9,029,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R2265:Ranbp3l
|
UTSW |
15 |
9,057,194 (GRCm39) |
missense |
probably damaging |
0.99 |
R2512:Ranbp3l
|
UTSW |
15 |
8,997,949 (GRCm39) |
missense |
probably benign |
0.00 |
R4077:Ranbp3l
|
UTSW |
15 |
9,060,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R4079:Ranbp3l
|
UTSW |
15 |
9,060,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R4179:Ranbp3l
|
UTSW |
15 |
9,057,279 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5227:Ranbp3l
|
UTSW |
15 |
9,037,186 (GRCm39) |
missense |
probably damaging |
0.99 |
R5265:Ranbp3l
|
UTSW |
15 |
9,037,077 (GRCm39) |
missense |
probably benign |
0.01 |
R5722:Ranbp3l
|
UTSW |
15 |
9,029,656 (GRCm39) |
missense |
probably damaging |
0.98 |
R5751:Ranbp3l
|
UTSW |
15 |
9,063,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R5976:Ranbp3l
|
UTSW |
15 |
9,030,916 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6504:Ranbp3l
|
UTSW |
15 |
8,997,946 (GRCm39) |
missense |
probably benign |
0.27 |
R6850:Ranbp3l
|
UTSW |
15 |
9,058,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R6940:Ranbp3l
|
UTSW |
15 |
9,041,792 (GRCm39) |
missense |
probably benign |
0.03 |
R7009:Ranbp3l
|
UTSW |
15 |
9,063,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R7018:Ranbp3l
|
UTSW |
15 |
9,037,159 (GRCm39) |
missense |
probably benign |
0.00 |
R7019:Ranbp3l
|
UTSW |
15 |
9,057,241 (GRCm39) |
missense |
probably damaging |
0.99 |
R7250:Ranbp3l
|
UTSW |
15 |
9,041,853 (GRCm39) |
missense |
probably benign |
|
R7352:Ranbp3l
|
UTSW |
15 |
8,997,842 (GRCm39) |
start gained |
probably benign |
|
R7483:Ranbp3l
|
UTSW |
15 |
9,030,955 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8210:Ranbp3l
|
UTSW |
15 |
9,065,059 (GRCm39) |
missense |
probably benign |
0.00 |
R9255:Ranbp3l
|
UTSW |
15 |
9,057,293 (GRCm39) |
missense |
probably benign |
0.00 |
R9389:Ranbp3l
|
UTSW |
15 |
9,057,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R9511:Ranbp3l
|
UTSW |
15 |
9,041,991 (GRCm39) |
intron |
probably benign |
|
R9513:Ranbp3l
|
UTSW |
15 |
9,037,176 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |