Incidental Mutation 'R6794:Cyc1'
| ID |
531678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyc1
|
| Ensembl Gene |
ENSMUSG00000022551 |
| Gene Name |
cytochrome c-1 |
| Synonyms |
Cyct1, 2610002H19Rik |
| MMRRC Submission |
044907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R6794 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76227723-76230460 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76228850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 132
(Y132C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023210]
[ENSMUST00000023211]
[ENSMUST00000160560]
[ENSMUST00000229013]
[ENSMUST00000230314]
[ENSMUST00000230706]
[ENSMUST00000231045]
|
| AlphaFold |
Q9D0M3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023210
AA Change: Y132C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023210
Gene: ENSMUSG00000022551
AA Change: Y132C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
Pfam:Cytochrom_C1
|
96 |
314 |
1.5e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023211
|
| SMART Domains |
Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sharpin_PH
|
13 |
125 |
1.2e-44 |
PFAM |
|
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
|
PDB:4DBG|A
|
203 |
299 |
1e-17 |
PDB |
|
SCOP:d1euvb_
|
212 |
301 |
2e-5 |
SMART |
|
Blast:UBQ
|
218 |
299 |
2e-26 |
BLAST |
|
ZnF_RBZ
|
343 |
367 |
9.65e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159429
|
| SMART Domains |
Protein: ENSMUSP00000124755
Gene: ENSMUSG00000022552
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_RBZ
|
46 |
70 |
9.65e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160560
|
| SMART Domains |
Protein: ENSMUSP00000125382
Gene: ENSMUSG00000022552
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
PDB:4EMO|D
|
24 |
62 |
2e-13 |
PDB |
|
low complexity region
|
64 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229013
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231045
AA Change: Y73C
|
| Meta Mutation Damage Score |
0.8212 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt |
T |
C |
1: 93,063,104 (GRCm39) |
V30A |
possibly damaging |
Het |
| Atf7 |
T |
C |
15: 102,465,900 (GRCm39) |
K87E |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
| Btg4 |
A |
C |
9: 51,030,651 (GRCm39) |
K250N |
possibly damaging |
Het |
| Cracdl |
A |
G |
1: 37,676,936 (GRCm39) |
|
probably null |
Het |
| Dcaf5 |
A |
T |
12: 80,445,667 (GRCm39) |
D137E |
possibly damaging |
Het |
| Ddr2 |
C |
A |
1: 169,809,667 (GRCm39) |
W770L |
probably damaging |
Het |
| Disc1 |
T |
C |
8: 125,814,514 (GRCm39) |
V126A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,099,805 (GRCm39) |
N643D |
probably benign |
Het |
| Gabrg1 |
C |
T |
5: 70,973,314 (GRCm39) |
R75H |
probably damaging |
Het |
| Gm14418 |
A |
T |
2: 177,079,631 (GRCm39) |
H121Q |
probably damaging |
Het |
| H2-Ob |
T |
A |
17: 34,460,162 (GRCm39) |
L20Q |
possibly damaging |
Het |
| Herpud1 |
T |
A |
8: 95,121,398 (GRCm39) |
|
probably null |
Het |
| Ica1 |
T |
C |
6: 8,653,659 (GRCm39) |
D326G |
probably benign |
Het |
| Jph3 |
T |
C |
8: 122,512,124 (GRCm39) |
L704P |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
T |
G |
17: 17,751,421 (GRCm39) |
N948T |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,741,893 (GRCm39) |
V3888D |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,289 (GRCm39) |
|
probably benign |
Het |
| Nfkb2 |
T |
C |
19: 46,296,159 (GRCm39) |
|
probably null |
Het |
| Pik3r2 |
T |
C |
8: 71,223,361 (GRCm39) |
H380R |
probably benign |
Het |
| Prim1 |
T |
C |
10: 127,854,018 (GRCm39) |
S124P |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,675 (GRCm39) |
T57A |
possibly damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
| Sapcd2 |
A |
G |
2: 25,266,379 (GRCm39) |
S389G |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,364,955 (GRCm39) |
Q421R |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,101,985 (GRCm39) |
Y430H |
probably damaging |
Het |
| Shf |
A |
G |
2: 122,184,321 (GRCm39) |
L234P |
probably damaging |
Het |
| Slc22a29 |
G |
T |
19: 8,138,887 (GRCm39) |
S525Y |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,950,519 (GRCm39) |
|
probably null |
Het |
| Tln2 |
T |
C |
9: 67,193,840 (GRCm39) |
D666G |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,797,992 (GRCm39) |
E502K |
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,348 (GRCm39) |
H852L |
possibly damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,204 (GRCm39) |
F787L |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,043,655 (GRCm39) |
H131R |
unknown |
Het |
|
| Other mutations in Cyc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00941:Cyc1
|
APN |
15 |
76,229,365 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01377:Cyc1
|
APN |
15 |
76,229,162 (GRCm39) |
nonsense |
probably null |
|
|
IGL03111:Cyc1
|
APN |
15 |
76,229,072 (GRCm39) |
missense |
probably benign |
0.01 |
|
Colorful
|
UTSW |
15 |
76,228,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Cyc1
|
UTSW |
15 |
76,229,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0967:Cyc1
|
UTSW |
15 |
76,229,848 (GRCm39) |
unclassified |
probably benign |
|
|
R1428:Cyc1
|
UTSW |
15 |
76,228,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2357:Cyc1
|
UTSW |
15 |
76,229,766 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7506:Cyc1
|
UTSW |
15 |
76,227,885 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8784:Cyc1
|
UTSW |
15 |
76,227,863 (GRCm39) |
missense |
probably benign |
|
|
R9013:Cyc1
|
UTSW |
15 |
76,229,019 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9299:Cyc1
|
UTSW |
15 |
76,228,506 (GRCm39) |
missense |
probably benign |
|
|
R9337:Cyc1
|
UTSW |
15 |
76,228,506 (GRCm39) |
missense |
probably benign |
|
|
R9382:Cyc1
|
UTSW |
15 |
76,229,273 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9634:Cyc1
|
UTSW |
15 |
76,227,794 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTACCCATGGTCTCATC -3'
(R):5'- CATCTCCCCATCATCATTAGGG -3'
Sequencing Primer
(F):5'- ACCCATGGTCTCATCGTGGC -3'
(R):5'- CCCATCATCATTAGGGCCATC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation