Incidental Mutation 'IGL01897:Cyb5d1'
| ID |
179424 |
| 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 # |
IGL01897
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
69282751-69286457 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69284587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 188
(D188E)
|
| 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: D188E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059709
Gene: ENSMUSG00000044795
AA Change: D188E
| 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 |
unknown
Transcript: ENSMUST00000108660
AA Change: S166T
|
| SMART Domains |
Protein: ENSMUSP00000104300
Gene: ENSMUSG00000044795
AA Change: S166T
| 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: ENSMUST00000134903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142126
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
G |
1: 125,346,025 (GRCm39) |
Y21H |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,813,448 (GRCm39) |
S906T |
probably damaging |
Het |
| Brat1 |
A |
G |
5: 140,703,670 (GRCm39) |
D641G |
probably benign |
Het |
| Ccdc42 |
G |
A |
11: 68,485,101 (GRCm39) |
R205H |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,829,986 (GRCm39) |
|
probably null |
Het |
| Cfi |
T |
C |
3: 129,652,034 (GRCm39) |
V235A |
probably damaging |
Het |
| Ctps1 |
T |
A |
4: 120,424,476 (GRCm39) |
D46V |
probably damaging |
Het |
| Cyp19a1 |
G |
T |
9: 54,075,813 (GRCm39) |
T414N |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,792,217 (GRCm39) |
C242* |
probably null |
Het |
| Eif3b |
A |
T |
5: 140,411,202 (GRCm39) |
T218S |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,698,765 (GRCm39) |
L2475Q |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Heyl |
A |
T |
4: 123,140,400 (GRCm39) |
I320F |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,330,236 (GRCm39) |
V1618E |
probably damaging |
Het |
| Kif7 |
A |
T |
7: 79,350,800 (GRCm39) |
I1007N |
probably damaging |
Het |
| Lat2 |
A |
G |
5: 134,635,481 (GRCm39) |
|
probably benign |
Het |
| Lipm |
A |
T |
19: 34,098,708 (GRCm39) |
D394V |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,782,977 (GRCm39) |
I307K |
possibly damaging |
Het |
| Mief1 |
T |
C |
15: 80,132,709 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
C |
T |
19: 8,925,130 (GRCm39) |
Q333* |
probably null |
Het |
| Neb |
T |
A |
2: 52,170,587 (GRCm39) |
E1695V |
possibly damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,177,879 (GRCm39) |
N510K |
probably benign |
Het |
| Or5af1 |
T |
C |
11: 58,722,465 (GRCm39) |
F162L |
probably damaging |
Het |
| P2rx3 |
A |
C |
2: 84,853,825 (GRCm39) |
|
probably benign |
Het |
| Pdgfc |
A |
G |
3: 81,111,639 (GRCm39) |
E198G |
possibly damaging |
Het |
| Pkdcc |
T |
A |
17: 83,527,548 (GRCm39) |
I242N |
probably damaging |
Het |
| Pkn3 |
C |
T |
2: 29,972,824 (GRCm39) |
|
probably benign |
Het |
| Rcan2 |
T |
G |
17: 44,147,325 (GRCm39) |
D54E |
probably damaging |
Het |
| Tmeff2 |
T |
A |
1: 51,171,369 (GRCm39) |
Y202N |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,453,309 (GRCm39) |
L1827P |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wfdc15a |
G |
T |
2: 164,041,896 (GRCm39) |
Q21K |
probably benign |
Het |
| Zfp951 |
C |
A |
5: 104,963,149 (GRCm39) |
S139I |
probably benign |
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 |
|
|
IGL02566:Cyb5d1
|
APN |
11 |
69,284,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2014-05-07 |
Incidental Mutation