Incidental Mutation 'R0925:Rsl1d1'
ID |
83169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rsl1d1
|
Ensembl Gene |
ENSMUSG00000005846 |
Gene Name |
ribosomal L1 domain containing 1 |
Synonyms |
2410005K20Rik |
MMRRC Submission |
039072-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.945)
|
Stock # |
R0925 (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 T
at 11017553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 138
(Y138N)
|
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: Y138N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113431 Gene: ENSMUSG00000005846 AA Change: Y138N
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 |
probably benign
Transcript: ENSMUST00000230232
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230245
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
C |
8: 44,079,340 (GRCm39) |
I295V |
probably benign |
Het |
Adam5 |
T |
C |
8: 25,302,441 (GRCm39) |
Q101R |
probably benign |
Het |
C2cd4c |
T |
C |
10: 79,448,584 (GRCm39) |
N188D |
probably benign |
Het |
Cdc27 |
A |
G |
11: 104,416,875 (GRCm39) |
|
probably null |
Het |
Cdh11 |
T |
A |
8: 103,361,356 (GRCm39) |
I661L |
probably damaging |
Het |
Cimip1 |
T |
A |
2: 173,367,867 (GRCm39) |
S47T |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,760,634 (GRCm39) |
I167T |
probably benign |
Het |
Dennd3 |
T |
G |
15: 73,405,284 (GRCm39) |
F346V |
probably damaging |
Het |
Dis3l |
A |
T |
9: 64,248,412 (GRCm39) |
M1K |
probably null |
Het |
Dnajb6 |
A |
T |
5: 29,957,398 (GRCm39) |
K60I |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,514,657 (GRCm39) |
H1421L |
probably benign |
Het |
Elmod3 |
A |
T |
6: 72,545,921 (GRCm39) |
C274S |
probably damaging |
Het |
Eme1 |
T |
C |
11: 94,541,558 (GRCm39) |
E88G |
probably damaging |
Het |
Fam227a |
A |
T |
15: 79,505,006 (GRCm39) |
M475K |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,561,394 (GRCm39) |
I1038V |
probably benign |
Het |
Gabpb1 |
T |
A |
2: 126,494,185 (GRCm39) |
N147Y |
probably damaging |
Het |
Gmnc |
A |
G |
16: 26,779,173 (GRCm39) |
L278P |
probably benign |
Het |
Gpr153 |
A |
G |
4: 152,366,331 (GRCm39) |
T299A |
probably benign |
Het |
H2-M11 |
T |
C |
17: 36,858,353 (GRCm39) |
V49A |
probably benign |
Het |
Hemgn |
T |
A |
4: 46,397,049 (GRCm39) |
K62N |
probably damaging |
Het |
Hormad2 |
G |
A |
11: 4,377,297 (GRCm39) |
T47M |
probably damaging |
Het |
Iqcf6 |
A |
G |
9: 106,504,500 (GRCm39) |
T55A |
probably benign |
Het |
Itgam |
T |
C |
7: 127,711,410 (GRCm39) |
F705L |
probably benign |
Het |
Klk1 |
T |
A |
7: 43,878,240 (GRCm39) |
|
probably null |
Het |
Myo1f |
A |
T |
17: 33,797,107 (GRCm39) |
I123F |
probably damaging |
Het |
Nup58 |
T |
C |
14: 60,457,590 (GRCm39) |
T538A |
probably damaging |
Het |
Or52j3 |
T |
A |
7: 102,836,030 (GRCm39) |
L74* |
probably null |
Het |
Or5p81 |
C |
T |
7: 108,267,400 (GRCm39) |
T259I |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,399,356 (GRCm39) |
R790H |
probably damaging |
Het |
Pigv |
T |
C |
4: 133,389,960 (GRCm39) |
K74R |
probably benign |
Het |
Prmt8 |
T |
C |
6: 127,674,776 (GRCm39) |
K284R |
probably benign |
Het |
Scara5 |
AC |
ACC |
14: 66,000,167 (GRCm39) |
|
probably benign |
Het |
Smc4 |
T |
A |
3: 68,913,548 (GRCm39) |
|
probably benign |
Het |
Spta1 |
G |
A |
1: 174,001,992 (GRCm39) |
V41I |
possibly damaging |
Het |
Tdrd7 |
C |
A |
4: 46,025,758 (GRCm39) |
N859K |
probably damaging |
Het |
Vps13d |
T |
G |
4: 144,883,121 (GRCm39) |
D824A |
probably damaging |
Het |
Wdfy2 |
A |
T |
14: 63,167,675 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCATCAGAACATTGGAGACACAC -3'
(R):5'- TGACATGCTGGGATTTTATCCAGGC -3'
Sequencing Primer
(F):5'- GAACATTGGAGACACACAGAAAC -3'
(R):5'- AGGGTCTCCCACCATCTG -3'
|
Posted On |
2013-11-08 |