Incidental Mutation 'R2975:Mrpl43'
| ID |
255359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrpl43
|
| Ensembl Gene |
ENSMUSG00000025208 |
| Gene Name |
mitochondrial ribosomal protein L43 |
| Synonyms |
4930442D21Rik, bMRP36a |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R2975 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
44993584-44994860 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 44994498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026225]
[ENSMUST00000026227]
[ENSMUST00000097715]
[ENSMUST00000130549]
[ENSMUST00000179305]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026225
|
| SMART Domains |
Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Sema
|
56 |
487 |
2.38e-165 |
SMART |
|
PSI
|
505 |
556 |
6.59e-13 |
SMART |
|
IG
|
567 |
649 |
6.26e-5 |
SMART |
|
low complexity region
|
650 |
666 |
N/A |
INTRINSIC |
|
transmembrane domain
|
677 |
699 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026227
|
| SMART Domains |
Protein: ENSMUSP00000026227
Gene: ENSMUSG00000025209
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
Blast:TOPRIM
|
260 |
331 |
8e-16 |
BLAST |
|
Pfam:AAA_25
|
377 |
565 |
5.6e-25 |
PFAM |
|
Pfam:DnaB_C
|
390 |
631 |
6.7e-17 |
PFAM |
|
Pfam:KaiC
|
394 |
628 |
2.6e-11 |
PFAM |
|
low complexity region
|
650 |
661 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000097715
|
| SMART Domains |
Protein: ENSMUSP00000095322
Gene: ENSMUSG00000025208
| Domain | Start | End | E-Value | Type |
|---|
|
L51_S25_CI-B8
|
35 |
108 |
1.61e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130549
|
| SMART Domains |
Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Sema
|
56 |
487 |
2.38e-165 |
SMART |
|
PSI
|
505 |
556 |
6.59e-13 |
SMART |
|
IG
|
567 |
649 |
6.26e-5 |
SMART |
|
low complexity region
|
650 |
666 |
N/A |
INTRINSIC |
|
transmembrane domain
|
677 |
699 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179305
|
| SMART Domains |
Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Sema
|
56 |
487 |
2.38e-165 |
SMART |
|
PSI
|
505 |
556 |
6.59e-13 |
SMART |
|
IG
|
567 |
649 |
6.26e-5 |
SMART |
|
low complexity region
|
650 |
666 |
N/A |
INTRINSIC |
|
transmembrane domain
|
677 |
699 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
774 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: 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 39S subunit protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,847,099 (GRCm39) |
N251D |
probably damaging |
Het |
| Cdca3 |
A |
T |
6: 124,807,616 (GRCm39) |
|
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fut8 |
T |
C |
12: 77,411,787 (GRCm39) |
V83A |
probably benign |
Het |
| Gnb1l |
T |
C |
16: 18,383,016 (GRCm39) |
S352P |
probably damaging |
Het |
| Hmgxb3 |
A |
T |
18: 61,296,038 (GRCm39) |
Y323* |
probably null |
Het |
| Katna1 |
A |
T |
10: 7,619,473 (GRCm39) |
K160N |
probably benign |
Het |
| Kif7 |
C |
A |
7: 79,360,008 (GRCm39) |
A410S |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,216,951 (GRCm39) |
E2574V |
possibly damaging |
Het |
| Naip6 |
A |
G |
13: 100,424,695 (GRCm39) |
V1199A |
probably damaging |
Het |
| Ntn4 |
A |
G |
10: 93,480,753 (GRCm39) |
Y122C |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,345 (GRCm39) |
I225T |
probably damaging |
Het |
| Rrp1b |
T |
A |
17: 32,277,547 (GRCm39) |
V609E |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,543,299 (GRCm39) |
T180A |
probably damaging |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,590,198 (GRCm39) |
I16T |
probably benign |
Het |
| Traf3ip2 |
A |
C |
10: 39,502,536 (GRCm39) |
Q228P |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,369,919 (GRCm39) |
M48T |
possibly damaging |
Het |
| Washc5 |
T |
C |
15: 59,217,207 (GRCm39) |
N787D |
probably damaging |
Het |
| Zbed6 |
T |
C |
1: 133,585,975 (GRCm39) |
Y454C |
probably damaging |
Het |
|
| Other mutations in Mrpl43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0555:Mrpl43
|
UTSW |
19 |
44,994,391 (GRCm39) |
unclassified |
probably benign |
|
|
R1162:Mrpl43
|
UTSW |
19 |
44,994,797 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4151:Mrpl43
|
UTSW |
19 |
44,994,175 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4345:Mrpl43
|
UTSW |
19 |
44,994,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Mrpl43
|
UTSW |
19 |
44,994,328 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9786:Mrpl43
|
UTSW |
19 |
44,994,346 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACCAACGACTTGATCTCC -3'
(R):5'- CATAATGGGCTAGGGCGTTACG -3'
Sequencing Primer
(F):5'- AACGACTTGATCTCCTCCACCG -3'
(R):5'- TAGGGCGTTACGTGCAGCAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation