Incidental Mutation 'R5751:Ranbp3l'
ID |
446019 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ranbp3l
|
Ensembl Gene |
ENSMUSG00000048424 |
Gene Name |
RAN binding protein 3-like |
Synonyms |
C130037N17Rik |
MMRRC Submission |
043201-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R5751 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
8997433-9067417 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 9063169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 326
(D326G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154327
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053308]
[ENSMUST00000227191]
|
AlphaFold |
Q6PDH4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053308
AA Change: D462G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055750 Gene: ENSMUSG00000048424 AA Change: D462G
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 |
probably damaging
Transcript: ENSMUST00000227191
AA Change: D326G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,368,893 (GRCm39) |
T1704A |
possibly damaging |
Het |
Adam6a |
T |
A |
12: 113,508,447 (GRCm39) |
D273E |
possibly damaging |
Het |
Adgrv1 |
T |
A |
13: 81,670,355 (GRCm39) |
L1610F |
probably damaging |
Het |
Ago2 |
C |
T |
15: 73,000,172 (GRCm39) |
|
probably null |
Het |
Apob |
T |
A |
12: 8,062,619 (GRCm39) |
Y87* |
probably null |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Atp7b |
A |
G |
8: 22,508,144 (GRCm39) |
V599A |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 31,032,863 (GRCm39) |
I391F |
probably benign |
Het |
Emc2 |
A |
G |
15: 43,360,453 (GRCm39) |
|
probably null |
Het |
Gbp9 |
G |
T |
5: 105,229,124 (GRCm39) |
Q508K |
probably benign |
Het |
Grpel1 |
C |
T |
5: 36,626,811 (GRCm39) |
T31M |
probably benign |
Het |
Gtf3c4 |
C |
T |
2: 28,717,511 (GRCm39) |
A790T |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,449,305 (GRCm39) |
C115R |
probably damaging |
Het |
Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
Ldc1 |
A |
C |
4: 130,114,234 (GRCm39) |
V61G |
probably benign |
Het |
Lhx3 |
A |
G |
2: 26,091,173 (GRCm39) |
S379P |
probably benign |
Het |
Mocs1 |
A |
G |
17: 49,756,766 (GRCm39) |
|
probably null |
Het |
Mycbp2 |
C |
A |
14: 103,385,986 (GRCm39) |
V3457F |
probably damaging |
Het |
Or14j7 |
A |
T |
17: 38,234,861 (GRCm39) |
I135L |
probably benign |
Het |
Or4a2 |
A |
T |
2: 89,248,031 (GRCm39) |
I242N |
probably damaging |
Het |
Or5an6 |
G |
A |
19: 12,371,780 (GRCm39) |
R51K |
probably benign |
Het |
Orc5 |
C |
T |
5: 22,704,969 (GRCm39) |
|
probably null |
Het |
Phf20 |
T |
C |
2: 156,109,261 (GRCm39) |
S203P |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,817,204 (GRCm39) |
S1815G |
possibly damaging |
Het |
Pnpla7 |
T |
C |
2: 24,871,790 (GRCm39) |
V11A |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,300,086 (GRCm39) |
|
probably null |
Het |
Rsph4a |
C |
T |
10: 33,781,789 (GRCm39) |
A213V |
probably damaging |
Het |
Sema3b |
A |
G |
9: 107,476,913 (GRCm39) |
S570P |
probably benign |
Het |
Spata31d1b |
T |
A |
13: 59,866,787 (GRCm39) |
C1312S |
probably benign |
Het |
Sphkap |
G |
T |
1: 83,253,618 (GRCm39) |
T1377K |
probably benign |
Het |
Stk32a |
A |
T |
18: 43,438,085 (GRCm39) |
R195W |
possibly damaging |
Het |
Tacr2 |
T |
C |
10: 62,088,769 (GRCm39) |
I58T |
probably damaging |
Het |
Tmem200c |
A |
T |
17: 69,147,547 (GRCm39) |
K43N |
probably damaging |
Het |
Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
Uckl1 |
A |
G |
2: 181,216,245 (GRCm39) |
S167P |
possibly damaging |
Het |
Vmn2r90 |
A |
G |
17: 17,954,128 (GRCm39) |
Y764C |
probably damaging |
Het |
Zan |
C |
T |
5: 137,408,423 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCACGGCTGTACTCATTCAC -3'
(R):5'- CAGGGATGCTAACTAGAAGACTACTC -3'
Sequencing Primer
(F):5'- GGCTGTACTCATTCACTACTTACAG -3'
(R):5'- GACGGATCTAACCCACTCCTGG -3'
|
Posted On |
2016-11-21 |