Incidental Mutation 'IGL00773:Cyb5rl'
| ID |
12563 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyb5rl
|
| Ensembl Gene |
ENSMUSG00000028621 |
| Gene Name |
cytochrome b5 reductase-like |
| Synonyms |
2810410C14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
IGL00773
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
106924035-106945204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106941493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 246
(A246V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030364]
[ENSMUST00000106756]
[ENSMUST00000106758]
[ENSMUST00000106760]
[ENSMUST00000127916]
[ENSMUST00000137269]
[ENSMUST00000149453]
|
| AlphaFold |
B1AS42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030364
AA Change: A271V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621
AA Change: A271V
| 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 |
probably benign
Transcript: ENSMUST00000106756
AA Change: A246V
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102367
Gene: ENSMUSG00000028621
AA Change: A246V
| 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 |
probably benign
Transcript: ENSMUST00000106758
AA Change: A306V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621
AA Change: A306V
| 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: A171V
|
| SMART Domains |
Protein: ENSMUSP00000119249
Gene: ENSMUSG00000028621
AA Change: A171V
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,878,594 (GRCm39) |
|
probably benign |
Het |
| Aff1 |
C |
T |
5: 103,931,943 (GRCm39) |
S195F |
probably damaging |
Het |
| Atm |
G |
T |
9: 53,433,444 (GRCm39) |
H269N |
probably benign |
Het |
| Cdc25c |
A |
T |
18: 34,880,294 (GRCm39) |
S147T |
probably benign |
Het |
| Cdnf |
A |
G |
2: 3,520,392 (GRCm39) |
D57G |
possibly damaging |
Het |
| Cep170 |
T |
C |
1: 176,582,965 (GRCm39) |
D1138G |
probably damaging |
Het |
| Cfap70 |
A |
G |
14: 20,497,602 (GRCm39) |
S51P |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,454,115 (GRCm39) |
M3577T |
probably damaging |
Het |
| Dcaf1 |
T |
A |
9: 106,735,532 (GRCm39) |
S827T |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,387,047 (GRCm39) |
Q862L |
probably damaging |
Het |
| Gm57858 |
A |
G |
3: 36,089,486 (GRCm39) |
L146P |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,238,960 (GRCm39) |
V407A |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,085,247 (GRCm39) |
I1751T |
probably benign |
Het |
| Pcm1 |
T |
C |
8: 41,727,314 (GRCm39) |
L528P |
probably damaging |
Het |
| Pla2g7 |
T |
G |
17: 43,913,762 (GRCm39) |
I235S |
probably damaging |
Het |
| Plekhh2 |
C |
T |
17: 84,914,296 (GRCm39) |
T1233M |
probably benign |
Het |
| Ptpn21 |
C |
T |
12: 98,654,572 (GRCm39) |
M798I |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,628 (GRCm39) |
K1573E |
probably benign |
Het |
| Rassf6 |
C |
T |
5: 90,751,999 (GRCm39) |
V272M |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,672,421 (GRCm39) |
F994Y |
probably damaging |
Het |
| Slc13a1 |
C |
T |
6: 24,118,016 (GRCm39) |
M240I |
possibly damaging |
Het |
| Slc22a6 |
A |
T |
19: 8,599,232 (GRCm39) |
I288F |
probably benign |
Het |
| Slc6a3 |
T |
A |
13: 73,692,860 (GRCm39) |
I160N |
probably damaging |
Het |
| Slfn10-ps |
T |
A |
11: 82,926,355 (GRCm39) |
|
noncoding transcript |
Het |
| Snx14 |
A |
T |
9: 88,276,592 (GRCm39) |
D564E |
probably damaging |
Het |
| Tceanc |
T |
A |
X: 165,285,857 (GRCm39) |
L179F |
probably benign |
Het |
| Tpm2 |
T |
C |
4: 43,518,251 (GRCm39) |
K251E |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,785,048 (GRCm39) |
R191* |
probably null |
Het |
| Trpm3 |
T |
A |
19: 22,877,523 (GRCm39) |
M602K |
possibly damaging |
Het |
| Zbtb21 |
A |
T |
16: 97,753,520 (GRCm39) |
D282E |
probably benign |
Het |
|
| Other mutations in Cyb5rl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R5797:Cyb5rl
|
UTSW |
4 |
106,941,404 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation