Incidental Mutation 'IGL02549:Ranbp3l'
ID |
297970 |
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 # |
IGL02549
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
8997433-9067417 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8997925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 6
(R6G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130916
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053308]
[ENSMUST00000166524]
|
AlphaFold |
Q6PDH4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053308
AA Change: R6G
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000055750 Gene: ENSMUSG00000048424 AA Change: R6G
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: R6G
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000130916 Gene: ENSMUSG00000048424 AA Change: R6G
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
31 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228227
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229662
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 109,992,879 (GRCm39) |
E1595G |
probably damaging |
Het |
Adnp2 |
G |
A |
18: 80,172,333 (GRCm39) |
A692V |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,329,993 (GRCm39) |
S321P |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,618,032 (GRCm39) |
Y1919C |
probably damaging |
Het |
Atp10a |
A |
G |
7: 58,469,481 (GRCm39) |
T1111A |
probably benign |
Het |
Avpr1a |
A |
T |
10: 122,288,069 (GRCm39) |
H359L |
possibly damaging |
Het |
C1rl |
A |
T |
6: 124,470,796 (GRCm39) |
I35F |
possibly damaging |
Het |
Casp8 |
G |
A |
1: 58,872,925 (GRCm39) |
C287Y |
probably benign |
Het |
Ccdc88c |
A |
T |
12: 100,895,191 (GRCm39) |
S1437T |
probably benign |
Het |
Cd200r1 |
C |
T |
16: 44,610,341 (GRCm39) |
P150S |
probably damaging |
Het |
Col2a1 |
G |
A |
15: 97,875,680 (GRCm39) |
R1202C |
unknown |
Het |
Copb1 |
A |
T |
7: 113,846,032 (GRCm39) |
D179E |
probably benign |
Het |
Cyp2c29 |
C |
T |
19: 39,298,229 (GRCm39) |
T258I |
possibly damaging |
Het |
Flacc1 |
T |
C |
1: 58,698,441 (GRCm39) |
T326A |
probably benign |
Het |
Gemin5 |
T |
C |
11: 58,025,629 (GRCm39) |
Y991C |
probably damaging |
Het |
Gm4978 |
T |
C |
9: 69,357,641 (GRCm39) |
|
probably benign |
Het |
Gm7732 |
A |
T |
17: 21,349,649 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2f |
T |
C |
X: 140,943,200 (GRCm39) |
I478V |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,307,183 (GRCm39) |
H1001R |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,236,662 (GRCm39) |
V1173A |
probably benign |
Het |
Kansl1l |
T |
C |
1: 66,841,127 (GRCm39) |
T58A |
probably benign |
Het |
Kcnk13 |
A |
T |
12: 100,028,010 (GRCm39) |
K362* |
probably null |
Het |
Lama1 |
T |
G |
17: 68,097,830 (GRCm39) |
L1737V |
possibly damaging |
Het |
Lama4 |
A |
G |
10: 38,936,200 (GRCm39) |
N625S |
probably benign |
Het |
Loxl1 |
A |
T |
9: 58,200,921 (GRCm39) |
C514S |
probably damaging |
Het |
Muc13 |
A |
C |
16: 33,628,339 (GRCm39) |
E363A |
probably damaging |
Het |
Noxo1 |
G |
T |
17: 24,919,145 (GRCm39) |
G289V |
probably damaging |
Het |
Nudt7 |
G |
T |
8: 114,878,688 (GRCm39) |
D239Y |
probably damaging |
Het |
Polr3e |
G |
T |
7: 120,538,982 (GRCm39) |
V407F |
probably damaging |
Het |
Pou5f2 |
T |
A |
13: 78,173,709 (GRCm39) |
L217Q |
probably damaging |
Het |
R3hdm2 |
A |
G |
10: 127,320,094 (GRCm39) |
|
probably benign |
Het |
Rab11fip3 |
A |
C |
17: 26,213,294 (GRCm39) |
N793K |
probably damaging |
Het |
Slco1a6 |
T |
A |
6: 142,042,141 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
G |
6: 48,428,707 (GRCm39) |
E374G |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,711,210 (GRCm39) |
Y991H |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,933,309 (GRCm39) |
Y652H |
probably damaging |
Het |
Trpc4 |
G |
A |
3: 54,129,770 (GRCm39) |
V179I |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,343,446 (GRCm39) |
T1896A |
probably benign |
Het |
Zfhx3 |
T |
C |
8: 109,527,141 (GRCm39) |
Y1013H |
probably 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 |
IGL03170:Ranbp3l
|
APN |
15 |
9,029,611 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |