Incidental Mutation 'IGL02566:Cyb5d1'
ID |
298817 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyb5d1
|
Ensembl Gene |
ENSMUSG00000044795 |
Gene Name |
cytochrome b5 domain containing 1 |
Synonyms |
LOC327951 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02566
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
69282751-69286457 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 69284594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 186
(N186S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050140]
[ENSMUST00000051620]
[ENSMUST00000094077]
[ENSMUST00000108660]
[ENSMUST00000144531]
|
AlphaFold |
Q5NCY3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050140
|
SMART Domains |
Protein: ENSMUSP00000055528 Gene: ENSMUSG00000045377
Domain | Start | End | E-Value | Type |
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
transmembrane domain
|
86 |
108 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000051620
AA Change: N186S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000059709 Gene: ENSMUSG00000044795 AA Change: N186S
Domain | Start | End | E-Value | Type |
Cyt-b5
|
20 |
92 |
1.89e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082283
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094077
|
SMART Domains |
Protein: ENSMUSP00000091620 Gene: ENSMUSG00000018476
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
43 |
N/A |
INTRINSIC |
low complexity region
|
54 |
71 |
N/A |
INTRINSIC |
SCOP:d1elwa_
|
91 |
152 |
9e-5 |
SMART |
low complexity region
|
214 |
227 |
N/A |
INTRINSIC |
low complexity region
|
239 |
270 |
N/A |
INTRINSIC |
low complexity region
|
312 |
329 |
N/A |
INTRINSIC |
low complexity region
|
333 |
345 |
N/A |
INTRINSIC |
low complexity region
|
389 |
415 |
N/A |
INTRINSIC |
low complexity region
|
461 |
487 |
N/A |
INTRINSIC |
low complexity region
|
515 |
524 |
N/A |
INTRINSIC |
low complexity region
|
544 |
577 |
N/A |
INTRINSIC |
low complexity region
|
585 |
615 |
N/A |
INTRINSIC |
low complexity region
|
643 |
650 |
N/A |
INTRINSIC |
low complexity region
|
711 |
719 |
N/A |
INTRINSIC |
low complexity region
|
743 |
766 |
N/A |
INTRINSIC |
low complexity region
|
771 |
811 |
N/A |
INTRINSIC |
low complexity region
|
840 |
879 |
N/A |
INTRINSIC |
low complexity region
|
890 |
909 |
N/A |
INTRINSIC |
low complexity region
|
950 |
989 |
N/A |
INTRINSIC |
low complexity region
|
993 |
1011 |
N/A |
INTRINSIC |
low complexity region
|
1044 |
1068 |
N/A |
INTRINSIC |
low complexity region
|
1284 |
1317 |
N/A |
INTRINSIC |
JmjC
|
1337 |
1500 |
1.61e-47 |
SMART |
Blast:JmjC
|
1536 |
1600 |
1e-18 |
BLAST |
|
Predicted Effect |
silent
Transcript: ENSMUST00000108660
|
SMART Domains |
Protein: ENSMUSP00000104300 Gene: ENSMUSG00000044795
Domain | Start | End | E-Value | Type |
Cyt-b5
|
20 |
92 |
1.89e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124932
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142126
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134903
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144531
|
SMART Domains |
Protein: ENSMUSP00000123155 Gene: ENSMUSG00000059278
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
Sm
|
43 |
114 |
4.26e-15 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl4d |
A |
G |
11: 101,557,980 (GRCm39) |
S169G |
probably damaging |
Het |
Bbx |
A |
T |
16: 50,043,603 (GRCm39) |
|
probably benign |
Het |
Blm |
A |
T |
7: 80,123,944 (GRCm39) |
M959K |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Elk3 |
A |
G |
10: 93,101,325 (GRCm39) |
L142P |
probably damaging |
Het |
Gk5 |
G |
A |
9: 96,011,099 (GRCm39) |
D70N |
possibly damaging |
Het |
Gpr84 |
T |
C |
15: 103,217,150 (GRCm39) |
D309G |
probably benign |
Het |
Greb1l |
T |
C |
18: 10,503,299 (GRCm39) |
V450A |
probably damaging |
Het |
Gucy1b1 |
A |
G |
3: 81,965,636 (GRCm39) |
F70S |
probably damaging |
Het |
Jmjd4 |
T |
A |
11: 59,345,880 (GRCm39) |
M320K |
probably damaging |
Het |
Map10 |
A |
G |
8: 126,398,494 (GRCm39) |
N629S |
probably benign |
Het |
Nmd3 |
G |
T |
3: 69,647,247 (GRCm39) |
|
probably benign |
Het |
Obscn |
G |
T |
11: 58,958,973 (GRCm39) |
T3359K |
probably damaging |
Het |
Or2t1 |
C |
A |
14: 14,328,138 (GRCm38) |
T9K |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,389,450 (GRCm39) |
|
probably null |
Het |
Plcb1 |
T |
C |
2: 135,314,183 (GRCm39) |
F1212L |
probably benign |
Het |
Rabep1 |
A |
G |
11: 70,808,540 (GRCm39) |
S459G |
probably damaging |
Het |
Septin4 |
T |
G |
11: 87,458,468 (GRCm39) |
S281A |
probably benign |
Het |
Slc26a1 |
A |
G |
5: 108,821,665 (GRCm39) |
S75P |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Sult1d1 |
A |
T |
5: 87,712,670 (GRCm39) |
L58Q |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,758,068 (GRCm39) |
|
probably benign |
Het |
Vps35l |
C |
T |
7: 118,352,055 (GRCm39) |
A154V |
probably benign |
Het |
Zfp442 |
T |
C |
2: 150,251,711 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cyb5d1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01109:Cyb5d1
|
APN |
11 |
69,284,610 (GRCm39) |
splice site |
probably null |
|
IGL01897:Cyb5d1
|
APN |
11 |
69,284,587 (GRCm39) |
missense |
probably benign |
|
IGL02732:Cyb5d1
|
APN |
11 |
69,284,635 (GRCm39) |
splice site |
probably null |
|
R0025:Cyb5d1
|
UTSW |
11 |
69,285,792 (GRCm39) |
splice site |
probably null |
|
R0760:Cyb5d1
|
UTSW |
11 |
69,285,999 (GRCm39) |
missense |
probably benign |
|
R1195:Cyb5d1
|
UTSW |
11 |
69,285,797 (GRCm39) |
critical splice donor site |
probably null |
|
R1195:Cyb5d1
|
UTSW |
11 |
69,285,797 (GRCm39) |
critical splice donor site |
probably null |
|
R1195:Cyb5d1
|
UTSW |
11 |
69,285,797 (GRCm39) |
critical splice donor site |
probably null |
|
R1907:Cyb5d1
|
UTSW |
11 |
69,285,566 (GRCm39) |
missense |
probably benign |
0.32 |
R2220:Cyb5d1
|
UTSW |
11 |
69,285,871 (GRCm39) |
missense |
probably benign |
0.00 |
R3756:Cyb5d1
|
UTSW |
11 |
69,284,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R4757:Cyb5d1
|
UTSW |
11 |
69,285,814 (GRCm39) |
missense |
probably damaging |
0.99 |
R4994:Cyb5d1
|
UTSW |
11 |
69,284,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R5509:Cyb5d1
|
UTSW |
11 |
69,284,561 (GRCm39) |
splice site |
probably null |
|
R7631:Cyb5d1
|
UTSW |
11 |
69,285,865 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9348:Cyb5d1
|
UTSW |
11 |
69,285,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R9395:Cyb5d1
|
UTSW |
11 |
69,284,531 (GRCm39) |
missense |
probably benign |
0.00 |
Z1186:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1186:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
Z1187:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1187:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
Z1188:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1188:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
Z1189:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1189:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
Z1190:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1190:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
Z1191:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1191:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
Z1192:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1192:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |