Incidental Mutation 'IGL02627:Rsl1d1'
| ID |
301139 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rsl1d1
|
| Ensembl Gene |
ENSMUSG00000005846 |
| Gene Name |
ribosomal L1 domain containing 1 |
| Synonyms |
2410005K20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
IGL02627
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
11010901-11021156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 11012415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 337
(A337E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119953]
[ENSMUST00000230002]
|
| AlphaFold |
Q8BVY0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119953
AA Change: A337E
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113431
Gene: ENSMUSG00000005846
AA Change: A337E
| 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: ENSMUST00000121027
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181206
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000230002
AA Change: A221E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230232
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
A |
2: 30,685,777 (GRCm39) |
K353M |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,157,302 (GRCm39) |
Y100H |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap418 |
G |
A |
4: 10,898,039 (GRCm39) |
C207Y |
probably damaging |
Het |
| Ckap5 |
A |
T |
2: 91,406,366 (GRCm39) |
N752I |
probably damaging |
Het |
| Dgkz |
T |
A |
2: 91,769,055 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
A |
11: 16,819,346 (GRCm39) |
V292E |
probably damaging |
Het |
| Gnb3 |
T |
C |
6: 124,811,678 (GRCm39) |
T329A |
probably damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,675,810 (GRCm39) |
T40S |
probably damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,724,120 (GRCm39) |
|
probably benign |
Het |
| Mbip |
T |
C |
12: 56,382,590 (GRCm39) |
Q292R |
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,874,442 (GRCm39) |
Y625H |
probably damaging |
Het |
| Ms4a4d |
A |
T |
19: 11,525,987 (GRCm39) |
E40D |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,562,156 (GRCm39) |
E1003G |
possibly damaging |
Het |
| Ncf2 |
G |
A |
1: 152,686,759 (GRCm39) |
|
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,636,714 (GRCm39) |
V529A |
probably damaging |
Het |
| Osr2 |
A |
G |
15: 35,300,600 (GRCm39) |
N52S |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,606,593 (GRCm39) |
D778G |
possibly damaging |
Het |
| Sall3 |
A |
T |
18: 81,015,576 (GRCm39) |
L784Q |
possibly damaging |
Het |
| Spen |
A |
G |
4: 141,200,326 (GRCm39) |
I2744T |
probably damaging |
Het |
| Tfip11 |
A |
C |
5: 112,477,679 (GRCm39) |
S145R |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,518,295 (GRCm39) |
D559G |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,328,229 (GRCm39) |
S325T |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,771,472 (GRCm39) |
V472D |
probably damaging |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,746 (GRCm39) |
T29S |
probably benign |
Het |
| Vps29 |
T |
C |
5: 122,500,908 (GRCm39) |
S158P |
probably benign |
Het |
| Wdr82 |
T |
C |
9: 106,053,886 (GRCm39) |
V79A |
possibly damaging |
Het |
| Wfdc16 |
T |
A |
2: 164,480,383 (GRCm39) |
E37D |
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 |
|
|
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 |
|
R5545:Rsl1d1
|
UTSW |
16 |
11,017,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation