Incidental Mutation 'R1188:Mrps26'
| ID |
102336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrps26
|
| Ensembl Gene |
ENSMUSG00000037740 |
| Gene Name |
mitochondrial ribosomal protein S26 |
| Synonyms |
MRP-S13, GI008, Rpms13, MRP-S26 |
| MMRRC Submission |
039260-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.882)
|
| Stock # |
R1188 (G1)
|
| Quality Score |
109 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130405677-130407314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 130406301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 145
(E145K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000145614]
|
| AlphaFold |
Q80ZS3 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000046149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000079964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136793
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145614
AA Change: E145K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123324
Gene: ENSMUSG00000037740
AA Change: E145K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
|
Pfam:MRP-S26
|
28 |
197 |
8.1e-59 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. This gene lies adjacent to and downstream of the gonadotropin-releasing hormone precursor gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,147,741 (GRCm39) |
Y14C |
unknown |
Het |
| Afap1l2 |
T |
C |
19: 56,913,501 (GRCm39) |
K312E |
probably damaging |
Het |
| Amigo2 |
T |
A |
15: 97,143,594 (GRCm39) |
E276V |
probably benign |
Het |
| Atf2 |
A |
G |
2: 73,675,881 (GRCm39) |
F114L |
probably damaging |
Het |
| Avpr1a |
G |
T |
10: 122,284,824 (GRCm39) |
G39C |
possibly damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,788 (GRCm39) |
R468G |
possibly damaging |
Het |
| Celf6 |
G |
T |
9: 59,497,961 (GRCm39) |
R130L |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,378,939 (GRCm39) |
S1296P |
probably damaging |
Het |
| Fnip2 |
C |
T |
3: 79,369,469 (GRCm39) |
R1072H |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,805,361 (GRCm39) |
C560F |
possibly damaging |
Het |
| Get3 |
A |
G |
8: 85,746,422 (GRCm39) |
I142T |
probably damaging |
Het |
| Gpr20 |
A |
C |
15: 73,567,617 (GRCm39) |
H257Q |
probably damaging |
Het |
| Gys2 |
T |
A |
6: 142,400,909 (GRCm39) |
H297L |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,300,154 (GRCm39) |
S201N |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,921,022 (GRCm39) |
I198T |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,883,741 (GRCm39) |
Q247* |
probably null |
Het |
| Jam2 |
A |
G |
16: 84,603,755 (GRCm39) |
T81A |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,105,486 (GRCm39) |
F1545L |
probably benign |
Het |
| Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,286,118 (GRCm39) |
V1074D |
possibly damaging |
Het |
| Prkag1 |
T |
A |
15: 98,712,479 (GRCm39) |
I118F |
probably damaging |
Het |
| R3hdm2 |
G |
A |
10: 127,288,624 (GRCm39) |
V91I |
probably benign |
Het |
| Rnf168 |
T |
C |
16: 32,117,477 (GRCm39) |
V346A |
probably benign |
Het |
| Slc17a7 |
T |
C |
7: 44,819,311 (GRCm39) |
V129A |
possibly damaging |
Het |
| Snai3 |
T |
A |
8: 123,181,701 (GRCm39) |
Q252L |
probably damaging |
Het |
| Snx17 |
T |
C |
5: 31,353,166 (GRCm39) |
V133A |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,662,636 (GRCm39) |
S59P |
probably damaging |
Het |
| Sun1 |
C |
T |
5: 139,224,611 (GRCm39) |
R546C |
probably damaging |
Het |
| Thsd4 |
T |
A |
9: 60,301,689 (GRCm39) |
Q202L |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,763,430 (GRCm39) |
T311A |
probably benign |
Het |
| Tshr |
T |
A |
12: 91,468,942 (GRCm39) |
D18E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,619,773 (GRCm39) |
L15965Q |
probably damaging |
Het |
| Wnk1 |
C |
A |
6: 119,925,670 (GRCm39) |
E1265* |
probably null |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
|
| Other mutations in Mrps26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03267:Mrps26
|
APN |
2 |
130,406,856 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0608:Mrps26
|
UTSW |
2 |
130,405,778 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2054:Mrps26
|
UTSW |
2 |
130,406,087 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2850:Mrps26
|
UTSW |
2 |
130,406,967 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4519:Mrps26
|
UTSW |
2 |
130,406,269 (GRCm39) |
missense |
probably benign |
|
|
R4851:Mrps26
|
UTSW |
2 |
130,405,681 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4930:Mrps26
|
UTSW |
2 |
130,406,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5091:Mrps26
|
UTSW |
2 |
130,405,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5302:Mrps26
|
UTSW |
2 |
130,406,087 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8277:Mrps26
|
UTSW |
2 |
130,406,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9185:Mrps26
|
UTSW |
2 |
130,405,769 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCACGTTGGAGGTGCGAAG -3'
(R):5'- ATACCCTCTGCGCTGATGGAGAAG -3'
Sequencing Primer
(F):5'- AAATTGCACGAGGCCCG -3'
(R):5'- CCAATGTCCACATTCCCCATGA -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation