Incidental Mutation 'IGL01350:Cyb5rl'
| ID |
75305 |
| 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: 0.135)
|
| Stock # |
IGL01350
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
106924035-106945204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106941409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 278
(V278A)
|
| 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: V243A
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621
AA Change: V243A
| 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: V218A
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102367
Gene: ENSMUSG00000028621
AA Change: V218A
| 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: V278A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621
AA Change: V278A
| 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: V143A
|
| SMART Domains |
Protein: ENSMUSP00000119249
Gene: ENSMUSG00000028621
AA Change: V143A
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,187,208 (GRCm39) |
I926T |
probably benign |
Het |
| Adam39 |
T |
A |
8: 41,278,876 (GRCm39) |
C422* |
probably null |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,338 (GRCm39) |
N81S |
probably damaging |
Het |
| Amd1 |
A |
T |
10: 40,166,186 (GRCm39) |
Y264* |
probably null |
Het |
| Axl |
T |
C |
7: 25,458,175 (GRCm39) |
Y851C |
probably damaging |
Het |
| Ccdc70 |
T |
C |
8: 22,463,690 (GRCm39) |
L160P |
probably damaging |
Het |
| Cd2ap |
A |
T |
17: 43,136,812 (GRCm39) |
Y273* |
probably null |
Het |
| Cyp2c29 |
T |
C |
19: 39,318,771 (GRCm39) |
F417S |
probably damaging |
Het |
| Dnah7b |
C |
A |
1: 46,120,592 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
A |
T |
1: 77,483,492 (GRCm39) |
D172E |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 22,989,873 (GRCm39) |
I495F |
possibly damaging |
Het |
| Gpr150 |
A |
T |
13: 76,204,542 (GRCm39) |
H134Q |
probably benign |
Het |
| Gpr153 |
T |
G |
4: 152,366,423 (GRCm39) |
|
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,795,250 (GRCm39) |
Y333H |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,242,775 (GRCm39) |
M21T |
probably benign |
Het |
| Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,341,328 (GRCm39) |
R951C |
probably damaging |
Het |
| Msi1 |
A |
G |
5: 115,573,580 (GRCm39) |
K126R |
possibly damaging |
Het |
| Nkx2-6 |
T |
A |
14: 69,412,222 (GRCm39) |
F130Y |
probably damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,160 (GRCm39) |
L218Q |
probably damaging |
Het |
| Or12j4 |
G |
T |
7: 140,046,292 (GRCm39) |
M59I |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,630,887 (GRCm39) |
Y221C |
probably damaging |
Het |
| Or8j3 |
A |
G |
2: 86,028,149 (GRCm39) |
*316Q |
probably null |
Het |
| Pah |
T |
A |
10: 87,414,221 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
T |
1: 91,358,583 (GRCm39) |
E602K |
probably damaging |
Het |
| Plb1 |
C |
T |
5: 32,474,408 (GRCm39) |
T623M |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,909,109 (GRCm39) |
|
probably null |
Het |
| Prl7b1 |
T |
A |
13: 27,786,804 (GRCm39) |
T142S |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,173,544 (GRCm39) |
H1090R |
probably damaging |
Het |
| Siglecf |
G |
T |
7: 43,005,319 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,746 (GRCm39) |
V105A |
probably damaging |
Het |
| Thnsl1 |
T |
C |
2: 21,217,011 (GRCm39) |
V255A |
probably benign |
Het |
| Tmprss5 |
T |
A |
9: 49,020,757 (GRCm39) |
*84K |
probably null |
Het |
| Trrap |
C |
T |
5: 144,767,779 (GRCm39) |
L2579F |
possibly damaging |
Het |
| Vdac1 |
A |
G |
11: 52,276,489 (GRCm39) |
T211A |
probably benign |
Het |
| Vmn1r16 |
A |
T |
6: 57,299,716 (GRCm39) |
V302D |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,857,420 (GRCm39) |
C572* |
probably null |
Het |
| Xpc |
A |
G |
6: 91,476,993 (GRCm39) |
S369P |
probably benign |
Het |
| Zdhhc20 |
A |
G |
14: 58,111,444 (GRCm39) |
V52A |
probably benign |
Het |
| Zfp977 |
T |
C |
7: 42,230,090 (GRCm39) |
Y145C |
probably damaging |
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 |
|
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 |
2013-10-07 |
Incidental Mutation