Incidental Mutation 'IGL03279:Cyb5rl'
ID |
415542 |
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 # |
IGL03279
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
106924035-106945204 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106941325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 250
(E250V)
|
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: E215V
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000030364 Gene: ENSMUSG00000028621 AA Change: E215V
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: E190V
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102367 Gene: ENSMUSG00000028621 AA Change: E190V
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: E250V
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102369 Gene: ENSMUSG00000028621 AA Change: E250V
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: E115V
|
SMART Domains |
Protein: ENSMUSP00000119249 Gene: ENSMUSG00000028621 AA Change: E115V
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
A |
11: 119,904,504 (GRCm39) |
D224V |
probably damaging |
Het |
Abca4 |
C |
A |
3: 121,935,381 (GRCm39) |
N1526K |
probably benign |
Het |
Aif1 |
T |
A |
17: 35,390,523 (GRCm39) |
K76* |
probably null |
Het |
Arap2 |
A |
G |
5: 62,779,253 (GRCm39) |
S1446P |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,788,447 (GRCm39) |
|
probably benign |
Het |
Dppa2 |
A |
G |
16: 48,132,028 (GRCm39) |
T42A |
possibly damaging |
Het |
Drosha |
C |
T |
15: 12,859,478 (GRCm39) |
P562L |
probably benign |
Het |
Egfl7 |
C |
A |
2: 26,480,719 (GRCm39) |
H126N |
probably benign |
Het |
Gm5852 |
T |
C |
3: 93,634,584 (GRCm39) |
|
noncoding transcript |
Het |
Gpr161 |
T |
C |
1: 165,138,098 (GRCm39) |
F228S |
probably damaging |
Het |
Grid1 |
T |
A |
14: 34,667,722 (GRCm39) |
M83K |
probably damaging |
Het |
Gsdma2 |
T |
C |
11: 98,548,549 (GRCm39) |
S434P |
unknown |
Het |
Hao2 |
T |
A |
3: 98,787,712 (GRCm39) |
N239I |
possibly damaging |
Het |
Hsd17b14 |
A |
T |
7: 45,215,617 (GRCm39) |
I206F |
possibly damaging |
Het |
Kansl1l |
A |
T |
1: 66,774,825 (GRCm39) |
V667E |
probably damaging |
Het |
Kdm3a |
T |
C |
6: 71,588,659 (GRCm39) |
D450G |
probably benign |
Het |
Lmo7 |
C |
A |
14: 102,137,944 (GRCm39) |
A882E |
probably benign |
Het |
P4ha3 |
A |
G |
7: 99,949,893 (GRCm39) |
Y254C |
probably damaging |
Het |
Pcdh15 |
A |
G |
10: 74,152,904 (GRCm39) |
Y408C |
probably damaging |
Het |
Pglyrp3 |
T |
C |
3: 91,933,834 (GRCm39) |
Y160H |
probably damaging |
Het |
Pnma5 |
G |
A |
X: 72,079,605 (GRCm39) |
T359I |
probably benign |
Het |
Ptbp3 |
A |
T |
4: 59,476,937 (GRCm39) |
H440Q |
possibly damaging |
Het |
Rbx1 |
A |
G |
15: 81,352,399 (GRCm39) |
N41S |
probably damaging |
Het |
Rpl3 |
G |
A |
15: 79,962,560 (GRCm39) |
T340I |
probably benign |
Het |
Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
Sema6a |
A |
T |
18: 47,433,157 (GRCm39) |
C91* |
probably null |
Het |
Slco6d1 |
T |
A |
1: 98,394,405 (GRCm39) |
V363E |
probably damaging |
Het |
Stk38 |
A |
G |
17: 29,203,179 (GRCm39) |
|
probably benign |
Het |
Tanc2 |
G |
A |
11: 105,803,918 (GRCm39) |
|
probably null |
Het |
Thada |
A |
G |
17: 84,742,988 (GRCm39) |
F812S |
probably benign |
Het |
Tubb4b-ps1 |
A |
G |
5: 7,229,630 (GRCm39) |
|
probably benign |
Het |
Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
Vps52 |
T |
A |
17: 34,176,848 (GRCm39) |
D67E |
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 |
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 |
|
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 |
2016-08-02 |