Incidental Mutation 'R6504:Ranbp3l'
| ID |
523643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ranbp3l
|
| Ensembl Gene |
ENSMUSG00000048424 |
| Gene Name |
RAN binding protein 3-like |
| Synonyms |
C130037N17Rik |
| MMRRC Submission |
044636-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R6504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
8997433-9067417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8997946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 13
(F13L)
|
| 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: F13L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055750
Gene: ENSMUSG00000048424
AA Change: F13L
| 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 benign
Transcript: ENSMUST00000166524
AA Change: F13L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000130916
Gene: ENSMUSG00000048424
AA Change: F13L
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,213,569 (GRCm39) |
T31A |
probably benign |
Het |
| Adam12 |
A |
T |
7: 133,531,713 (GRCm39) |
H507Q |
probably damaging |
Het |
| Ampd1 |
A |
G |
3: 103,006,911 (GRCm39) |
D712G |
possibly damaging |
Het |
| Ap4m1 |
T |
A |
5: 138,176,358 (GRCm39) |
D351E |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,863,121 (GRCm39) |
T1304A |
probably benign |
Het |
| Dhx36 |
G |
T |
3: 62,396,060 (GRCm39) |
A449E |
probably benign |
Het |
| Dmkn |
A |
T |
7: 30,475,854 (GRCm39) |
K2N |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,846 (GRCm39) |
I1217T |
possibly damaging |
Het |
| Dph5 |
A |
G |
3: 115,720,452 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 83,985,907 (GRCm39) |
V4A |
probably benign |
Het |
| Elavl4 |
A |
T |
4: 110,112,579 (GRCm39) |
|
probably null |
Het |
| Ep400 |
T |
C |
5: 110,856,703 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,223 (GRCm39) |
I3663T |
probably benign |
Het |
| Gm7233 |
T |
A |
14: 43,037,394 (GRCm39) |
D15E |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,232,198 (GRCm39) |
V444A |
probably damaging |
Het |
| Hdac4 |
T |
A |
1: 91,896,177 (GRCm39) |
I698F |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,405,518 (GRCm39) |
S1179P |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,250,531 (GRCm39) |
L595Q |
probably damaging |
Het |
| Or10d3 |
C |
T |
9: 39,461,574 (GRCm39) |
V198M |
probably damaging |
Het |
| Or5b110-ps1 |
A |
C |
19: 13,259,848 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Orc1 |
A |
G |
4: 108,447,914 (GRCm39) |
I54V |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,167,631 (GRCm39) |
Q634R |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,525,364 (GRCm39) |
V414A |
unknown |
Het |
| Scaf11 |
T |
C |
15: 96,317,341 (GRCm39) |
|
probably null |
Het |
| Sh3d19 |
A |
G |
3: 85,992,643 (GRCm39) |
T224A |
probably benign |
Het |
| Shq1 |
T |
A |
6: 100,625,208 (GRCm39) |
Y217F |
probably benign |
Het |
| Slitrk1 |
A |
T |
14: 109,149,129 (GRCm39) |
H527Q |
probably benign |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,691,895 (GRCm39) |
I432M |
possibly damaging |
Het |
| Sulf2 |
A |
G |
2: 165,925,841 (GRCm39) |
Y439H |
probably benign |
Het |
| Thoc5 |
T |
A |
11: 4,874,815 (GRCm39) |
C535* |
probably null |
Het |
| Tlr3 |
T |
C |
8: 45,850,486 (GRCm39) |
I280V |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,444 (GRCm39) |
S4269G |
probably benign |
Het |
| Vmn1r214 |
A |
T |
13: 23,219,610 (GRCm39) |
*368L |
probably null |
Het |
| Wif1 |
C |
G |
10: 120,870,996 (GRCm39) |
Q92E |
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 |
|
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 |
|
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 |
|
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'- AACCCTGGCATGCTTTTCG -3'
(R):5'- CTTTAAATCAACAGCGAGGCC -3'
Sequencing Primer
(F):5'- GCATGCTTTTCGAGGAGTAAATG -3'
(R):5'- AGCGAGGCCACGGGAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation