Incidental Mutation 'R5545:Rsl1d1'
| ID |
436200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsl1d1
|
| Ensembl Gene |
ENSMUSG00000005846 |
| Gene Name |
ribosomal L1 domain containing 1 |
| Synonyms |
2410005K20Rik |
| MMRRC Submission |
043103-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R5545 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
11010901-11021156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11017514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 151
(F151L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119953]
[ENSMUST00000230002]
|
| AlphaFold |
Q8BVY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119953
AA Change: F151L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113431
Gene: ENSMUSG00000005846
AA Change: F151L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L1
|
36 |
259 |
2.3e-52 |
PFAM |
|
coiled coil region
|
281 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229756
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230245
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230232
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
C |
3: 145,644,853 (GRCm39) |
|
probably null |
Het |
| Acot5 |
G |
A |
12: 84,116,380 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,292,594 (GRCm39) |
Y205F |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,041,235 (GRCm39) |
Y564C |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,978,801 (GRCm39) |
S551P |
|
Het |
| Cyp20a1 |
T |
C |
1: 60,415,241 (GRCm39) |
I289T |
possibly damaging |
Het |
| Herc6 |
A |
T |
6: 57,634,992 (GRCm39) |
|
probably null |
Het |
| Ifnar2 |
G |
A |
16: 91,181,913 (GRCm39) |
|
probably null |
Het |
| Kcnd2 |
A |
G |
6: 21,217,018 (GRCm39) |
T241A |
probably damaging |
Het |
| Nfatc2ip |
T |
A |
7: 125,989,642 (GRCm39) |
E247D |
possibly damaging |
Het |
| Or2k2 |
T |
G |
4: 58,785,585 (GRCm39) |
I46L |
probably benign |
Het |
| Or2o1 |
G |
A |
11: 49,051,453 (GRCm39) |
C204Y |
probably damaging |
Het |
| Pate10 |
A |
G |
9: 35,652,940 (GRCm39) |
I61V |
probably benign |
Het |
| Plekhg2 |
T |
C |
7: 28,061,886 (GRCm39) |
E638G |
probably damaging |
Het |
| Plin1 |
T |
C |
7: 79,376,257 (GRCm39) |
T160A |
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,879,339 (GRCm39) |
N613I |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,709,830 (GRCm39) |
S1498G |
probably damaging |
Het |
| Ralbp1 |
C |
T |
17: 66,157,099 (GRCm39) |
R598Q |
possibly damaging |
Het |
| Robo2 |
A |
C |
16: 73,758,635 (GRCm39) |
V712G |
probably damaging |
Het |
| Scrn3 |
T |
A |
2: 73,166,125 (GRCm39) |
I386N |
possibly damaging |
Het |
| Sorl1 |
T |
A |
9: 41,902,921 (GRCm39) |
Y1591F |
probably benign |
Het |
| Tbr1 |
T |
G |
2: 61,637,720 (GRCm39) |
V93G |
possibly damaging |
Het |
| Tmem229b |
A |
G |
12: 79,011,583 (GRCm39) |
I116T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,594,720 (GRCm39) |
Q12115R |
possibly damaging |
Het |
| Ube3a |
C |
T |
7: 58,921,772 (GRCm39) |
T48M |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,742,992 (GRCm39) |
I401V |
probably benign |
Het |
| Wdr90 |
C |
T |
17: 26,064,830 (GRCm39) |
R1744H |
probably damaging |
Het |
| Zc3h7a |
T |
C |
16: 10,966,315 (GRCm39) |
D604G |
possibly damaging |
Het |
|
| Other mutations in Rsl1d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Rsl1d1
|
APN |
16 |
11,017,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01087:Rsl1d1
|
APN |
16 |
11,012,539 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01998:Rsl1d1
|
APN |
16 |
11,012,509 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02077:Rsl1d1
|
APN |
16 |
11,012,320 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02627:Rsl1d1
|
APN |
16 |
11,012,415 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0925:Rsl1d1
|
UTSW |
16 |
11,017,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1017:Rsl1d1
|
UTSW |
16 |
11,021,116 (GRCm39) |
missense |
probably benign |
|
|
R1671:Rsl1d1
|
UTSW |
16 |
11,019,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Rsl1d1
|
UTSW |
16 |
11,019,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Rsl1d1
|
UTSW |
16 |
11,017,593 (GRCm39) |
splice site |
probably null |
|
|
R5265:Rsl1d1
|
UTSW |
16 |
11,019,248 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6221:Rsl1d1
|
UTSW |
16 |
11,019,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6970:Rsl1d1
|
UTSW |
16 |
11,011,558 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7852:Rsl1d1
|
UTSW |
16 |
11,021,098 (GRCm39) |
missense |
probably benign |
|
|
R7919:Rsl1d1
|
UTSW |
16 |
11,020,297 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8754:Rsl1d1
|
UTSW |
16 |
11,017,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9098:Rsl1d1
|
UTSW |
16 |
11,019,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Rsl1d1
|
UTSW |
16 |
11,011,385 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9792:Rsl1d1
|
UTSW |
16 |
11,017,300 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9793:Rsl1d1
|
UTSW |
16 |
11,017,300 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
Z1088:Rsl1d1
|
UTSW |
16 |
11,020,249 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTCACAGACACTGGAAC -3'
(R):5'- AGGCCTCTAGCATATTTTAGCTGC -3'
Sequencing Primer
(F):5'- TGGAACTCTATAAAAGCACACAGG -3'
(R):5'- CTCTAGCATATTTTAGCTGCTTAGG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation