Incidental Mutation 'R6598:Uqcrc1'
| ID |
525057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uqcrc1
|
| Ensembl Gene |
ENSMUSG00000025651 |
| Gene Name |
ubiquinol-cytochrome c reductase core protein 1 |
| Synonyms |
1110032G10Rik |
| MMRRC Submission |
044722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R6598 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108765701-108778691 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 108776690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 30
(V30F)
|
| 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: V331F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000026743
Gene: ENSMUSG00000025651
AA Change: V331F
| 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: V30F
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141743
Gene: ENSMUSG00000025651
AA Change: V30F
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,007,502 (GRCm39) |
S943T |
probably benign |
Het |
| Adgrv1 |
T |
G |
13: 81,654,298 (GRCm39) |
E2911A |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,430,896 (GRCm39) |
F819S |
probably damaging |
Het |
| Cald1 |
G |
A |
6: 34,723,575 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
G |
T |
3: 144,792,246 (GRCm39) |
Y338* |
probably null |
Het |
| Cmya5 |
C |
T |
13: 93,226,316 (GRCm39) |
G2924D |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,877,611 (GRCm39) |
L2122Q |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,909,161 (GRCm39) |
F1258S |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,556 (GRCm39) |
V387A |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,620,984 (GRCm39) |
C575R |
probably damaging |
Het |
| Dyrk4 |
C |
T |
6: 126,853,289 (GRCm39) |
V632M |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,609,902 (GRCm39) |
S111P |
possibly damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,789,376 (GRCm39) |
L578Q |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,932,065 (GRCm39) |
F212Y |
probably damaging |
Het |
| Golm2 |
A |
T |
2: 121,763,966 (GRCm39) |
E247D |
probably damaging |
Het |
| Golm2 |
G |
A |
2: 121,763,967 (GRCm39) |
E383K |
probably damaging |
Het |
| Icos |
T |
G |
1: 61,033,856 (GRCm39) |
I162S |
possibly damaging |
Het |
| Kcnj8 |
G |
T |
6: 142,515,959 (GRCm39) |
N49K |
probably damaging |
Het |
| Ldhb |
A |
T |
6: 142,436,326 (GRCm39) |
M281K |
possibly damaging |
Het |
| Med17 |
T |
C |
9: 15,182,996 (GRCm39) |
K350E |
probably benign |
Het |
| Mpo |
A |
T |
11: 87,690,798 (GRCm39) |
N412I |
probably benign |
Het |
| Mrps24 |
A |
T |
11: 5,654,713 (GRCm39) |
D80E |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,153,516 (GRCm39) |
D134G |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,204,109 (GRCm39) |
Q140R |
probably null |
Het |
| Nsd1 |
T |
C |
13: 55,441,515 (GRCm39) |
V1662A |
possibly damaging |
Het |
| Or10ag53 |
C |
T |
2: 87,083,100 (GRCm39) |
T273I |
probably damaging |
Het |
| Or5p51 |
G |
A |
7: 107,444,470 (GRCm39) |
L157F |
probably benign |
Het |
| Or6c88 |
C |
A |
10: 129,407,238 (GRCm39) |
T238N |
probably damaging |
Het |
| Polq |
G |
A |
16: 36,881,993 (GRCm39) |
A1386T |
probably benign |
Het |
| Ppil1 |
C |
A |
17: 29,480,852 (GRCm39) |
V24F |
probably benign |
Het |
| Prim1 |
G |
T |
10: 127,856,049 (GRCm39) |
V165L |
possibly damaging |
Het |
| Slc12a2 |
G |
A |
18: 58,031,145 (GRCm39) |
V317I |
probably benign |
Het |
| Tbpl1 |
A |
G |
10: 22,583,748 (GRCm39) |
V103A |
probably damaging |
Het |
| Tmprss11c |
C |
T |
5: 86,437,092 (GRCm39) |
E10K |
probably benign |
Het |
| Unc80 |
T |
G |
1: 66,507,699 (GRCm39) |
|
probably null |
Het |
| Vmn1r88 |
T |
C |
7: 12,912,150 (GRCm39) |
Y169H |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,404,626 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,569,623 (GRCm39) |
D1490G |
probably damaging |
Het |
| Zer1 |
T |
A |
2: 30,003,286 (GRCm39) |
S44C |
probably damaging |
Het |
| Zfp106 |
T |
A |
2: 120,365,541 (GRCm39) |
K289* |
probably null |
Het |
| Zfp618 |
A |
G |
4: 63,007,636 (GRCm39) |
Y155C |
probably damaging |
Het |
| Zfp979 |
A |
G |
4: 147,698,223 (GRCm39) |
L162P |
probably damaging |
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 |
|
|
R0313:Uqcrc1
|
UTSW |
9 |
108,777,642 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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 |
|
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'- CTATGACTGCACTTACGGTGGTG -3'
(R):5'- GCGCATCCTAAAGCAAGTGG -3'
Sequencing Primer
(F):5'- CACTTACGGTGGTGGAGTGGTAAG -3'
(R):5'- TTGAAGTGACGCTCAGTGTCCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation