Incidental Mutation 'R1231:Cmss1'
ID |
152305 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cmss1
|
Ensembl Gene |
ENSMUSG00000022748 |
Gene Name |
cms small ribosomal subunit 1 |
Synonyms |
1110001A06Rik, 2610528E23Rik, 4930572F24Rik |
MMRRC Submission |
039300-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R1231 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
57122363-57427227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 57136560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 104
(R104H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110011
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114371]
|
AlphaFold |
Q9CZT6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000114371
AA Change: R104H
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000110011 Gene: ENSMUSG00000022748 AA Change: R104H
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
29 |
N/A |
INTRINSIC |
Pfam:CMS1
|
42 |
266 |
7.9e-35 |
PFAM |
Pfam:DEAD
|
127 |
234 |
4e-7 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ascc3 |
C |
T |
10: 50,699,756 (GRCm39) |
P1860S |
probably damaging |
Het |
Cabp5 |
T |
C |
7: 13,139,350 (GRCm39) |
I125T |
probably damaging |
Het |
Ccnd2 |
A |
T |
6: 127,107,363 (GRCm39) |
S269T |
probably benign |
Het |
Dock9 |
A |
T |
14: 121,813,362 (GRCm39) |
M1522K |
possibly damaging |
Het |
Fcrl5 |
A |
G |
3: 87,349,486 (GRCm39) |
H87R |
probably benign |
Het |
Gabrr3 |
G |
A |
16: 59,281,763 (GRCm39) |
D373N |
probably benign |
Het |
Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Itgae |
C |
T |
11: 73,010,205 (GRCm39) |
T565I |
probably benign |
Het |
Mocos |
G |
T |
18: 24,812,758 (GRCm39) |
A551S |
probably benign |
Het |
Mtmr9 |
A |
T |
14: 63,765,640 (GRCm39) |
N418K |
possibly damaging |
Het |
Mtus2 |
T |
A |
5: 148,014,198 (GRCm39) |
S330R |
probably benign |
Het |
Or2t1 |
A |
T |
14: 14,328,515 (GRCm38) |
M135L |
probably benign |
Het |
Psg16 |
T |
A |
7: 16,829,230 (GRCm39) |
Y271* |
probably null |
Het |
Psmd2 |
T |
A |
16: 20,474,335 (GRCm39) |
M297K |
possibly damaging |
Het |
Rnf220 |
A |
T |
4: 117,347,081 (GRCm39) |
S110R |
probably damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
St8sia5 |
T |
C |
18: 77,320,502 (GRCm39) |
Y49H |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
Urm1 |
G |
T |
2: 29,722,711 (GRCm39) |
A15S |
probably damaging |
Het |
|
Other mutations in Cmss1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00662:Cmss1
|
APN |
16 |
57,124,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R0031:Cmss1
|
UTSW |
16 |
57,131,612 (GRCm39) |
splice site |
probably null |
|
R1556:Cmss1
|
UTSW |
16 |
57,136,560 (GRCm39) |
missense |
probably benign |
0.14 |
R2017:Cmss1
|
UTSW |
16 |
57,136,641 (GRCm39) |
missense |
probably damaging |
0.99 |
R3748:Cmss1
|
UTSW |
16 |
57,122,635 (GRCm39) |
missense |
probably damaging |
0.96 |
R4835:Cmss1
|
UTSW |
16 |
57,136,545 (GRCm39) |
nonsense |
probably null |
|
R5316:Cmss1
|
UTSW |
16 |
57,122,638 (GRCm39) |
missense |
probably damaging |
0.99 |
R5598:Cmss1
|
UTSW |
16 |
57,131,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R5987:Cmss1
|
UTSW |
16 |
57,122,608 (GRCm39) |
missense |
probably benign |
0.40 |
R7145:Cmss1
|
UTSW |
16 |
57,131,718 (GRCm39) |
missense |
probably benign |
0.19 |
R7664:Cmss1
|
UTSW |
16 |
57,138,310 (GRCm39) |
missense |
probably benign |
0.00 |
R8377:Cmss1
|
UTSW |
16 |
57,127,757 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGGATTAAGAGTGTGTGCGTGGA -3'
(R):5'- CAGGGAGCCCGCTAGAGCA -3'
Sequencing Primer
(F):5'- CGTGGAAAAGGGATACATTTTCAAC -3'
(R):5'- AGCACTCACTATGTCATGAGG -3'
|
Posted On |
2014-01-29 |