Incidental Mutation 'R1494:Mrps7'
| ID |
250597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrps7
|
| Ensembl Gene |
ENSMUSG00000046756 |
| Gene Name |
mitchondrial ribosomal protein S7 |
| Synonyms |
MRP-S7, Rpms7 |
| MMRRC Submission |
039545-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R1494 (G1)
|
| Quality Score |
67 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115494966-115498862 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to C
at 115494952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019135]
[ENSMUST00000021087]
[ENSMUST00000058109]
[ENSMUST00000106506]
[ENSMUST00000106507]
[ENSMUST00000106508]
[ENSMUST00000148574]
[ENSMUST00000125097]
[ENSMUST00000156173]
|
| AlphaFold |
Q80X85 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019135
|
| SMART Domains |
Protein: ENSMUSP00000019135
Gene: ENSMUSG00000020740
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
9 |
142 |
9.36e-55 |
SMART |
|
low complexity region
|
174 |
185 |
N/A |
INTRINSIC |
|
Pfam:GAT
|
222 |
299 |
1.7e-20 |
PFAM |
|
low complexity region
|
334 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
554 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
586 |
710 |
6.09e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021087
|
| SMART Domains |
Protein: ENSMUSP00000021087
Gene: ENSMUSG00000020743
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIF4G
|
4 |
205 |
1.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058109
|
| SMART Domains |
Protein: ENSMUSP00000053033
Gene: ENSMUSG00000046756
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S7
|
68 |
234 |
7.1e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106506
|
| SMART Domains |
Protein: ENSMUSP00000102115
Gene: ENSMUSG00000020743
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIF4G
|
4 |
186 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106507
|
| SMART Domains |
Protein: ENSMUSP00000102116
Gene: ENSMUSG00000020743
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIF4G
|
4 |
204 |
3.5e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106508
|
| SMART Domains |
Protein: ENSMUSP00000102117
Gene: ENSMUSG00000020740
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
9 |
142 |
9.36e-55 |
SMART |
|
low complexity region
|
174 |
185 |
N/A |
INTRINSIC |
|
Pfam:GAT
|
206 |
307 |
1.3e-32 |
PFAM |
|
low complexity region
|
377 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
476 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
508 |
632 |
6.09e-43 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123831
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137304
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132503
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158851
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124407
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148574
|
| SMART Domains |
Protein: ENSMUSP00000119643
Gene: ENSMUSG00000020743
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIF4G
|
4 |
162 |
1.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125097
|
| SMART Domains |
Protein: ENSMUSP00000118024
Gene: ENSMUSG00000020740
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VHS
|
3 |
106 |
3.4e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156173
|
| SMART Domains |
Protein: ENSMUSP00000138597
Gene: ENSMUSG00000020740
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
9 |
142 |
9.36e-55 |
SMART |
|
low complexity region
|
174 |
185 |
N/A |
INTRINSIC |
|
Pfam:GAT
|
206 |
307 |
7.3e-32 |
PFAM |
|
low complexity region
|
334 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
554 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.3%
|
| Validation Efficiency |
97% (57/59) |
| 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. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
A |
G |
17: 48,400,991 (GRCm39) |
E92G |
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,416,429 (GRCm39) |
Q4064* |
probably null |
Het |
| Abca14 |
G |
A |
7: 119,815,524 (GRCm39) |
M257I |
probably benign |
Het |
| Acsm2 |
T |
A |
7: 119,174,855 (GRCm39) |
C207S |
probably damaging |
Het |
| Actr3 |
A |
G |
1: 125,344,018 (GRCm39) |
I67T |
probably benign |
Het |
| Adcy7 |
T |
C |
8: 89,046,835 (GRCm39) |
V606A |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,751,570 (GRCm39) |
S54F |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,870,388 (GRCm39) |
S848P |
probably damaging |
Het |
| Atg3 |
C |
T |
16: 44,992,123 (GRCm39) |
|
probably benign |
Het |
| Atp8b1 |
T |
A |
18: 64,697,597 (GRCm39) |
S416C |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 142,987,072 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
A |
T |
17: 45,954,735 (GRCm39) |
V134E |
probably damaging |
Het |
| Ccnd3 |
A |
G |
17: 47,909,033 (GRCm39) |
|
probably null |
Het |
| Chaf1b |
T |
A |
16: 93,684,998 (GRCm39) |
V149E |
probably damaging |
Het |
| Col5a2 |
T |
A |
1: 45,542,074 (GRCm39) |
M1L |
unknown |
Het |
| Copa |
T |
C |
1: 171,931,694 (GRCm39) |
I315T |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,318,077 (GRCm39) |
M353V |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,160,942 (GRCm39) |
M828V |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,232,761 (GRCm39) |
K1080* |
probably null |
Het |
| Dock6 |
A |
G |
9: 21,726,038 (GRCm39) |
V1424A |
probably benign |
Het |
| Foxa1 |
T |
C |
12: 57,588,984 (GRCm39) |
D412G |
probably damaging |
Het |
| Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
| Galnt9 |
T |
A |
5: 110,736,196 (GRCm39) |
S171T |
probably damaging |
Het |
| Glt6d1 |
A |
G |
2: 25,684,260 (GRCm39) |
Y249H |
probably damaging |
Het |
| Gm37240 |
A |
T |
3: 84,434,998 (GRCm39) |
Y104N |
probably damaging |
Het |
| Gpx8 |
C |
T |
13: 113,182,149 (GRCm39) |
E95K |
possibly damaging |
Het |
| Grm1 |
T |
C |
10: 10,565,450 (GRCm39) |
T953A |
probably benign |
Het |
| Helz |
T |
C |
11: 107,494,889 (GRCm39) |
|
probably benign |
Het |
| Hif3a |
T |
C |
7: 16,788,647 (GRCm39) |
Y108C |
probably damaging |
Het |
| Kcnj13 |
A |
T |
1: 87,316,939 (GRCm39) |
L58Q |
probably damaging |
Het |
| Mfsd14b |
A |
T |
13: 65,243,485 (GRCm39) |
V53D |
probably damaging |
Het |
| Mug1 |
G |
A |
6: 121,856,259 (GRCm39) |
G1013D |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,038 (GRCm39) |
Y203* |
probably null |
Het |
| Or6c8 |
A |
T |
10: 128,915,484 (GRCm39) |
M116K |
probably damaging |
Het |
| Pax6 |
T |
C |
2: 105,521,955 (GRCm39) |
I19T |
probably benign |
Het |
| Pde8b |
G |
A |
13: 95,184,304 (GRCm39) |
R416C |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Pygl |
G |
A |
12: 70,246,504 (GRCm39) |
R348W |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,731,309 (GRCm39) |
D1874V |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sncaip |
T |
C |
18: 53,001,958 (GRCm39) |
S160P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,133,719 (GRCm39) |
V79A |
probably damaging |
Het |
| Sptlc3 |
A |
T |
2: 139,431,480 (GRCm39) |
Y334F |
possibly damaging |
Het |
| Supt16 |
A |
G |
14: 52,409,916 (GRCm39) |
Y764H |
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,921,841 (GRCm39) |
V438E |
possibly damaging |
Het |
| Tagap1 |
T |
C |
17: 7,224,210 (GRCm39) |
D162G |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,225,122 (GRCm39) |
|
probably benign |
Het |
| Themis3 |
C |
A |
17: 66,866,949 (GRCm39) |
R97L |
probably benign |
Het |
| Tnk1 |
T |
A |
11: 69,747,372 (GRCm39) |
E86D |
possibly damaging |
Het |
| Tnpo3 |
A |
G |
6: 29,557,043 (GRCm39) |
L53P |
probably damaging |
Het |
| Trpc6 |
G |
A |
9: 8,658,305 (GRCm39) |
R725K |
probably benign |
Het |
| Ttll11 |
T |
G |
2: 35,685,391 (GRCm39) |
T566P |
probably damaging |
Het |
| Unc5c |
A |
T |
3: 141,533,310 (GRCm39) |
T779S |
possibly damaging |
Het |
| Zfp42 |
A |
G |
8: 43,748,638 (GRCm39) |
C288R |
possibly damaging |
Het |
| Zfp763 |
G |
A |
17: 33,240,477 (GRCm39) |
T52I |
probably damaging |
Het |
|
| Other mutations in Mrps7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00487:Mrps7
|
APN |
11 |
115,495,684 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02928:Mrps7
|
APN |
11 |
115,495,910 (GRCm39) |
nonsense |
probably null |
|
|
R1501:Mrps7
|
UTSW |
11 |
115,495,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1651:Mrps7
|
UTSW |
11 |
115,495,581 (GRCm39) |
nonsense |
probably null |
|
|
R1830:Mrps7
|
UTSW |
11 |
115,497,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2895:Mrps7
|
UTSW |
11 |
115,495,865 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5155:Mrps7
|
UTSW |
11 |
115,495,655 (GRCm39) |
nonsense |
probably null |
|
|
R6076:Mrps7
|
UTSW |
11 |
115,495,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6144:Mrps7
|
UTSW |
11 |
115,495,000 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6180:Mrps7
|
UTSW |
11 |
115,495,707 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7421:Mrps7
|
UTSW |
11 |
115,495,717 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7541:Mrps7
|
UTSW |
11 |
115,497,696 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7697:Mrps7
|
UTSW |
11 |
115,495,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7981:Mrps7
|
UTSW |
11 |
115,497,687 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGATACTCACTCAGCCAGGACTC -3'
(R):5'- CCCCAAACCGGCCCGTTTAATG -3'
Sequencing Primer
(F):5'- TCCGCCATATTGCAGCCG -3'
(R):5'- CTGGAGTCAGCCATCTCG -3'
|
| Posted On |
2014-11-21 |
Incidental Mutation