Incidental Mutation 'R5797:Cyb5rl'
| ID |
447264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyb5rl
|
| Ensembl Gene |
ENSMUSG00000028621 |
| Gene Name |
cytochrome b5 reductase-like |
| Synonyms |
2810410C14Rik |
| MMRRC Submission |
043209-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R5797 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
106924035-106945204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106941404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 276
(E276D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030364]
[ENSMUST00000106756]
[ENSMUST00000106758]
[ENSMUST00000106760]
[ENSMUST00000127916]
[ENSMUST00000137269]
[ENSMUST00000149453]
|
| AlphaFold |
B1AS42 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030364
AA Change: E241D
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621
AA Change: E241D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:Oxidored-like
|
15 |
56 |
1e-10 |
PFAM |
|
Pfam:FAD_binding_6
|
80 |
156 |
2.3e-11 |
PFAM |
|
Pfam:NAD_binding_1
|
152 |
266 |
1.8e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106756
AA Change: E216D
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102367
Gene: ENSMUSG00000028621
AA Change: E216D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_6
|
20 |
117 |
4.7e-23 |
PFAM |
|
Pfam:NAD_binding_1
|
127 |
241 |
3.2e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106758
AA Change: E276D
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621
AA Change: E276D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxidored-like
|
10 |
55 |
1.7e-15 |
PFAM |
|
Pfam:FAD_binding_6
|
80 |
177 |
8.2e-25 |
PFAM |
|
Pfam:NAD_binding_1
|
187 |
301 |
8.8e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106760
|
| SMART Domains |
Protein: ENSMUSP00000102371
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:Oxidored-like
|
15 |
56 |
2.5e-14 |
PFAM |
|
Pfam:FAD_binding_6
|
80 |
156 |
3.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126207
|
| SMART Domains |
Protein: ENSMUSP00000116114
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxidored-like
|
4 |
49 |
1.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127916
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137269
AA Change: E141D
|
| SMART Domains |
Protein: ENSMUSP00000119249
Gene: ENSMUSG00000028621
AA Change: E141D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_6
|
13 |
110 |
7.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149453
|
| SMART Domains |
Protein: ENSMUSP00000121581
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:Oxidored-like
|
14 |
56 |
5e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
C |
3: 40,887,986 (GRCm39) |
F277L |
probably benign |
Het |
| Acsf2 |
A |
G |
11: 94,462,505 (GRCm39) |
V170A |
probably damaging |
Het |
| Amz2 |
G |
T |
11: 109,317,905 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,412,074 (GRCm39) |
Y65C |
probably damaging |
Het |
| Canx |
T |
C |
11: 50,191,844 (GRCm39) |
I356V |
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,803,438 (GRCm39) |
T1535S |
probably benign |
Het |
| Cts3 |
A |
T |
13: 61,716,206 (GRCm39) |
W52R |
probably damaging |
Het |
| Dhx30 |
T |
C |
9: 109,927,888 (GRCm39) |
N78S |
probably damaging |
Het |
| Dmap1 |
A |
T |
4: 117,532,677 (GRCm39) |
V333E |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,898,450 (GRCm39) |
E3744G |
probably benign |
Het |
| Efcab6 |
C |
T |
15: 83,808,478 (GRCm39) |
C828Y |
possibly damaging |
Het |
| Fam227b |
A |
C |
2: 125,849,254 (GRCm39) |
I326S |
probably benign |
Het |
| Fbrs |
C |
A |
7: 127,086,463 (GRCm39) |
H604Q |
probably damaging |
Het |
| Fshr |
T |
G |
17: 89,318,503 (GRCm39) |
N129T |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,273,170 (GRCm39) |
R401G |
probably damaging |
Het |
| Gm572 |
G |
A |
4: 148,751,255 (GRCm39) |
M209I |
probably benign |
Het |
| Gne |
G |
A |
4: 44,060,030 (GRCm39) |
T121M |
probably damaging |
Het |
| Gnmt |
T |
C |
17: 47,037,305 (GRCm39) |
N160D |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,032,619 (GRCm39) |
Y1125C |
probably damaging |
Het |
| Kif2a |
A |
T |
13: 107,111,884 (GRCm39) |
C524S |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,759 (GRCm39) |
R181H |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,410,004 (GRCm39) |
D214G |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,405,319 (GRCm39) |
T909N |
unknown |
Het |
| Myh13 |
T |
A |
11: 67,225,828 (GRCm39) |
D335E |
possibly damaging |
Het |
| Myo5b |
A |
G |
18: 74,834,592 (GRCm39) |
E884G |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,581,034 (GRCm39) |
D71G |
possibly damaging |
Het |
| Nxpe4 |
T |
A |
9: 48,307,838 (GRCm39) |
I314N |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,228,590 (GRCm39) |
E1525G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,811,615 (GRCm39) |
H153Q |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,555,698 (GRCm39) |
Y2157* |
probably null |
Het |
| Scd3 |
T |
C |
19: 44,203,950 (GRCm39) |
I46T |
probably benign |
Het |
| Sdha |
A |
T |
13: 74,482,476 (GRCm39) |
M279K |
probably damaging |
Het |
| Slco4c1 |
A |
G |
1: 96,746,829 (GRCm39) |
V671A |
probably benign |
Het |
| Slitrk3 |
T |
A |
3: 72,955,962 (GRCm39) |
T937S |
probably damaging |
Het |
| Sncaip |
A |
T |
18: 53,031,276 (GRCm39) |
T442S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,650,473 (GRCm39) |
D1748G |
possibly damaging |
Het |
| Trmt9b |
A |
T |
8: 36,965,569 (GRCm39) |
K30* |
probably null |
Het |
| Vmn2r12 |
A |
T |
5: 109,233,736 (GRCm39) |
C825* |
probably null |
Het |
|
| Other mutations in Cyb5rl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00773:Cyb5rl
|
APN |
4 |
106,941,493 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01350:Cyb5rl
|
APN |
4 |
106,941,409 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02418:Cyb5rl
|
APN |
4 |
106,928,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02746:Cyb5rl
|
APN |
4 |
106,925,836 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03088:Cyb5rl
|
APN |
4 |
106,938,225 (GRCm39) |
nonsense |
probably null |
|
|
IGL03279:Cyb5rl
|
APN |
4 |
106,941,325 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1301:Cyb5rl
|
UTSW |
4 |
106,938,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Cyb5rl
|
UTSW |
4 |
106,938,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Cyb5rl
|
UTSW |
4 |
106,928,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2165:Cyb5rl
|
UTSW |
4 |
106,925,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Cyb5rl
|
UTSW |
4 |
106,938,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4223:Cyb5rl
|
UTSW |
4 |
106,938,185 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4851:Cyb5rl
|
UTSW |
4 |
106,941,510 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4964:Cyb5rl
|
UTSW |
4 |
106,926,329 (GRCm39) |
intron |
probably benign |
|
|
R6575:Cyb5rl
|
UTSW |
4 |
106,942,550 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6688:Cyb5rl
|
UTSW |
4 |
106,931,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6986:Cyb5rl
|
UTSW |
4 |
106,928,073 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7097:Cyb5rl
|
UTSW |
4 |
106,944,513 (GRCm39) |
missense |
unknown |
|
|
R7139:Cyb5rl
|
UTSW |
4 |
106,928,208 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7293:Cyb5rl
|
UTSW |
4 |
106,938,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7920:Cyb5rl
|
UTSW |
4 |
106,928,205 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8234:Cyb5rl
|
UTSW |
4 |
106,925,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8333:Cyb5rl
|
UTSW |
4 |
106,925,875 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8367:Cyb5rl
|
UTSW |
4 |
106,928,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8546:Cyb5rl
|
UTSW |
4 |
106,925,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Cyb5rl
|
UTSW |
4 |
106,938,157 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCCATGTACTGCAGTGG -3'
(R):5'- TAGGACTCCACTTGCTTGGC -3'
Sequencing Primer
(F):5'- GCAGAAAAGAGCTGGCTAGGTG -3'
(R):5'- GATGACATTTGCCCAAGGTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation