Incidental Mutation 'R6688:Cyb5rl'
| ID |
527853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyb5rl
|
| Ensembl Gene |
ENSMUSG00000028621 |
| Gene Name |
cytochrome b5 reductase-like |
| Synonyms |
2810410C14Rik |
| MMRRC Submission |
044806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R6688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
106924035-106945204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106931102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 128
(A128V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030364]
[ENSMUST00000106756]
[ENSMUST00000106758]
[ENSMUST00000106760]
[ENSMUST00000137269]
[ENSMUST00000145324]
[ENSMUST00000149453]
[ENSMUST00000154283]
|
| AlphaFold |
B1AS42 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030364
AA Change: A128V
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621
AA Change: A128V
| 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: A68V
PolyPhen 2
Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102367
Gene: ENSMUSG00000028621
AA Change: A68V
| 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: A128V
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621
AA Change: A128V
| 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 damaging
Transcript: ENSMUST00000106760
AA Change: A128V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102371
Gene: ENSMUSG00000028621
AA Change: A128V
| 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 |
possibly damaging
Transcript: ENSMUST00000137269
AA Change: A61V
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119249
Gene: ENSMUSG00000028621
AA Change: A61V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAD_binding_6
|
13 |
110 |
7.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145324
|
| SMART Domains |
Protein: ENSMUSP00000122502
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:Oxidored-like
|
14 |
56 |
3.9e-15 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156406
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154283
|
| SMART Domains |
Protein: ENSMUSP00000119366
Gene: ENSMUSG00000028621
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
Pfam:Oxidored-like
|
14 |
56 |
4.5e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.4531 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn1 |
A |
T |
13: 45,721,147 (GRCm39) |
H249Q |
probably damaging |
Het |
| Cd22 |
A |
C |
7: 30,572,389 (GRCm39) |
S362A |
possibly damaging |
Het |
| Cep120 |
G |
A |
18: 53,857,608 (GRCm39) |
P286S |
probably benign |
Het |
| Ces1g |
G |
A |
8: 94,033,600 (GRCm39) |
P441S |
possibly damaging |
Het |
| Ces2h |
A |
G |
8: 105,744,472 (GRCm39) |
I316V |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,600,899 (GRCm39) |
D747E |
possibly damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,450,015 (GRCm39) |
V572A |
probably benign |
Het |
| Dnttip1 |
T |
C |
2: 164,607,081 (GRCm39) |
Y241H |
probably damaging |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,343,278 (GRCm39) |
T11A |
possibly damaging |
Het |
| Ip6k2 |
C |
A |
9: 108,683,210 (GRCm39) |
T440K |
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,578,749 (GRCm39) |
N126D |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,774,041 (GRCm39) |
F5551I |
possibly damaging |
Het |
| Myh11 |
A |
G |
16: 14,023,417 (GRCm39) |
L1587P |
probably damaging |
Het |
| Nherf4 |
C |
T |
9: 44,159,527 (GRCm39) |
|
probably null |
Het |
| Nop53 |
A |
G |
7: 15,679,779 (GRCm39) |
V67A |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,949,135 (GRCm39) |
T1045A |
probably benign |
Het |
| Plg |
A |
T |
17: 12,610,732 (GRCm39) |
H215L |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rapgef2 |
T |
A |
3: 78,976,435 (GRCm39) |
Q1307L |
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,166,870 (GRCm39) |
E129G |
possibly damaging |
Het |
| Stx1b |
C |
T |
7: 127,407,068 (GRCm39) |
R209Q |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,738,736 (GRCm39) |
I905T |
possibly damaging |
Het |
| Tmem252 |
G |
A |
19: 24,651,463 (GRCm39) |
A11T |
probably benign |
Het |
| Tpst2 |
A |
G |
5: 112,455,623 (GRCm39) |
N54S |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,277,553 (GRCm39) |
S269G |
probably benign |
Het |
| Wasf1 |
T |
C |
10: 40,802,616 (GRCm39) |
|
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,544,249 (GRCm39) |
V58D |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,678,940 (GRCm39) |
T322A |
possibly 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 |
|
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 |
|
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'- TTACCTGTCCCTTGCTGAGG -3'
(R):5'- CGAGTTCATAGCACCTTACAGAATC -3'
Sequencing Primer
(F):5'- CTTGCTGAGGACAATGTCATTC -3'
(R):5'- AAGGTCCTGAGTTCAATTCCCAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation