Incidental Mutation 'R0313:Uqcrc1'
ID |
25341 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uqcrc1
|
Ensembl Gene |
ENSMUSG00000025651 |
Gene Name |
ubiquinol-cytochrome c reductase core protein 1 |
Synonyms |
1110032G10Rik |
MMRRC Submission |
038523-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R0313 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
108765701-108778691 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 108777642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 114
(R114S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026743]
[ENSMUST00000194047]
[ENSMUST00000194469]
[ENSMUST00000195738]
|
AlphaFold |
Q9CZ13 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026743
AA Change: R415S
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000026743 Gene: ENSMUSG00000025651 AA Change: R415S
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
37 |
N/A |
INTRINSIC |
Pfam:Peptidase_M16
|
58 |
205 |
2.1e-54 |
PFAM |
Pfam:Peptidase_M16_C
|
210 |
395 |
3.4e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192305
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192918
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193332
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193607
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194047
|
SMART Domains |
Protein: ENSMUSP00000141435 Gene: ENSMUSG00000025651
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M16
|
41 |
188 |
7.7e-53 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194469
AA Change: R114S
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141743 Gene: ENSMUSG00000025651 AA Change: R114S
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M16_C
|
1 |
94 |
5.4e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195387
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195738
|
Meta Mutation Damage Score |
0.3289 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.9%
- 20x: 88.5%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg2 |
A |
G |
6: 58,649,082 (GRCm39) |
E309G |
probably benign |
Het |
Ankmy1 |
C |
T |
1: 92,813,943 (GRCm39) |
G412D |
probably damaging |
Het |
Cc2d1a |
G |
A |
8: 84,863,598 (GRCm39) |
T542I |
probably benign |
Het |
Cldn18 |
T |
C |
9: 99,580,967 (GRCm39) |
I94V |
probably benign |
Het |
Cobll1 |
G |
A |
2: 64,926,088 (GRCm39) |
R1195* |
probably null |
Het |
Dnah7b |
A |
G |
1: 46,246,803 (GRCm39) |
T1660A |
probably damaging |
Het |
Dzip3 |
G |
T |
16: 48,757,424 (GRCm39) |
Q870K |
probably damaging |
Het |
Ebf4 |
T |
C |
2: 130,148,707 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
G |
4: 58,811,892 (GRCm39) |
I1411T |
probably benign |
Het |
Esyt2 |
T |
C |
12: 116,311,428 (GRCm39) |
L439P |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Haspin |
A |
G |
11: 73,027,124 (GRCm39) |
V655A |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,549,928 (GRCm39) |
E1351G |
probably damaging |
Het |
Lama2 |
C |
A |
10: 26,869,394 (GRCm39) |
|
probably null |
Het |
Lcp1 |
A |
G |
14: 75,436,873 (GRCm39) |
E73G |
probably damaging |
Het |
Ltv1 |
C |
T |
10: 13,058,604 (GRCm39) |
|
probably null |
Het |
Mcmdc2 |
A |
G |
1: 10,002,366 (GRCm39) |
Y529C |
probably damaging |
Het |
Myo3b |
T |
A |
2: 70,179,303 (GRCm39) |
Y1172* |
probably null |
Het |
Ncf1 |
T |
C |
5: 134,258,421 (GRCm39) |
M1V |
probably null |
Het |
Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
Or6c8b |
A |
G |
10: 128,882,695 (GRCm39) |
V79A |
possibly damaging |
Het |
Or8c10 |
T |
C |
9: 38,279,600 (GRCm39) |
S243P |
probably damaging |
Het |
Pcif1 |
A |
T |
2: 164,726,339 (GRCm39) |
H80L |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,728,887 (GRCm39) |
|
probably benign |
Het |
Polr2a |
T |
C |
11: 69,625,906 (GRCm39) |
Y1710C |
unknown |
Het |
Ppp1r37 |
G |
A |
7: 19,267,923 (GRCm39) |
T324I |
probably damaging |
Het |
Prmt1 |
T |
C |
7: 44,628,172 (GRCm39) |
D176G |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,363,637 (GRCm39) |
D501G |
probably damaging |
Het |
Ska2 |
A |
G |
11: 87,008,640 (GRCm39) |
I89M |
possibly damaging |
Het |
Slc39a7 |
G |
A |
17: 34,248,518 (GRCm39) |
A375V |
probably damaging |
Het |
Ssrp1 |
T |
A |
2: 84,871,898 (GRCm39) |
I374N |
probably damaging |
Het |
Stox2 |
C |
T |
8: 47,645,169 (GRCm39) |
G828R |
probably damaging |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Usp38 |
A |
T |
8: 81,711,071 (GRCm39) |
L988* |
probably null |
Het |
Vmn2r5 |
T |
A |
3: 64,411,248 (GRCm39) |
H440L |
probably benign |
Het |
Wdr12 |
A |
T |
1: 60,121,738 (GRCm39) |
I271N |
possibly damaging |
Het |
Xylt2 |
C |
T |
11: 94,560,720 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Uqcrc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01309:Uqcrc1
|
APN |
9 |
108,778,026 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02332:Uqcrc1
|
APN |
9 |
108,776,937 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02698:Uqcrc1
|
APN |
9 |
108,777,011 (GRCm39) |
critical splice donor site |
probably null |
|
R0743:Uqcrc1
|
UTSW |
9 |
108,773,773 (GRCm39) |
nonsense |
probably null |
|
R2027:Uqcrc1
|
UTSW |
9 |
108,776,083 (GRCm39) |
missense |
probably benign |
0.06 |
R2513:Uqcrc1
|
UTSW |
9 |
108,765,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R4680:Uqcrc1
|
UTSW |
9 |
108,776,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R4993:Uqcrc1
|
UTSW |
9 |
108,773,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R5223:Uqcrc1
|
UTSW |
9 |
108,771,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R5716:Uqcrc1
|
UTSW |
9 |
108,776,473 (GRCm39) |
missense |
probably benign |
|
R5941:Uqcrc1
|
UTSW |
9 |
108,776,554 (GRCm39) |
unclassified |
probably benign |
|
R6274:Uqcrc1
|
UTSW |
9 |
108,771,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R6598:Uqcrc1
|
UTSW |
9 |
108,776,690 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7132:Uqcrc1
|
UTSW |
9 |
108,778,536 (GRCm39) |
missense |
probably damaging |
0.98 |
R7150:Uqcrc1
|
UTSW |
9 |
108,776,926 (GRCm39) |
missense |
probably benign |
0.02 |
R7524:Uqcrc1
|
UTSW |
9 |
108,765,827 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8708:Uqcrc1
|
UTSW |
9 |
108,776,108 (GRCm39) |
missense |
probably damaging |
0.97 |
R8889:Uqcrc1
|
UTSW |
9 |
108,766,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R8892:Uqcrc1
|
UTSW |
9 |
108,766,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R8975:Uqcrc1
|
UTSW |
9 |
108,776,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R9136:Uqcrc1
|
UTSW |
9 |
108,776,973 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCACACTACTGTTGTTATTGGCAGG -3'
(R):5'- GGAGCAAATGTCACGCAGCATC -3'
Sequencing Primer
(F):5'- ATTGGCAGGTTATTGTGGAAAC -3'
(R):5'- GGAGCTGTTCCTCTCCCAAAG -3'
|
Posted On |
2013-04-16 |