Incidental Mutation 'IGL01109:Cyb5d1'
| ID |
52313 |
| 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 # |
IGL01109
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
69282751-69286457 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 69284610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123155
(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: D181Y
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000059709
Gene: ENSMUSG00000044795
AA Change: D181Y
| 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 |
probably benign
Transcript: ENSMUST00000108660
AA Change: R158L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104300
Gene: ENSMUSG00000044795
AA Change: R158L
| 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 null
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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
T |
C |
18: 65,440,211 (GRCm39) |
D861G |
probably benign |
Het |
| Anapc4 |
A |
G |
5: 53,005,970 (GRCm39) |
T326A |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,401,593 (GRCm39) |
I1425M |
probably damaging |
Het |
| Bend5 |
T |
C |
4: 111,305,838 (GRCm39) |
L294P |
probably damaging |
Het |
| Casp7 |
T |
A |
19: 56,425,177 (GRCm39) |
D193E |
probably benign |
Het |
| Cdc16 |
T |
C |
8: 13,814,606 (GRCm39) |
V130A |
probably benign |
Het |
| Chl1 |
T |
G |
6: 103,692,354 (GRCm39) |
Y331D |
probably damaging |
Het |
| Cntn1 |
C |
A |
15: 92,237,458 (GRCm39) |
Y1017* |
probably null |
Het |
| Cyp2c38 |
A |
G |
19: 39,451,329 (GRCm39) |
|
probably null |
Het |
| Dzip3 |
T |
C |
16: 48,750,037 (GRCm39) |
M827V |
probably benign |
Het |
| Ehd1 |
T |
A |
19: 6,348,177 (GRCm39) |
M385K |
possibly damaging |
Het |
| Eya3 |
C |
A |
4: 132,420,311 (GRCm39) |
Y52* |
probably null |
Het |
| Itsn1 |
C |
T |
16: 91,603,089 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,952,178 (GRCm39) |
N983I |
probably damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,623,035 (GRCm39) |
N1068K |
probably damaging |
Het |
| Mup6 |
T |
A |
4: 60,006,001 (GRCm39) |
N156K |
probably damaging |
Het |
| Nedd9 |
T |
A |
13: 41,469,710 (GRCm39) |
H481L |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,024,588 (GRCm39) |
D484G |
probably damaging |
Het |
| Ogdh |
T |
C |
11: 6,298,790 (GRCm39) |
V674A |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,409 (GRCm39) |
D178G |
probably damaging |
Het |
| Or4f54 |
G |
A |
2: 111,122,864 (GRCm39) |
D84N |
probably benign |
Het |
| Or5b113 |
A |
G |
19: 13,342,063 (GRCm39) |
I24V |
probably benign |
Het |
| Or5d38 |
T |
C |
2: 87,955,023 (GRCm39) |
Q102R |
probably damaging |
Het |
| Or8g53 |
T |
C |
9: 39,683,293 (GRCm39) |
M268V |
probably benign |
Het |
| Or8k32 |
T |
A |
2: 86,368,674 (GRCm39) |
D195V |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,379,871 (GRCm39) |
T154A |
probably damaging |
Het |
| P2rx1 |
T |
C |
11: 72,899,041 (GRCm39) |
V84A |
probably damaging |
Het |
| Pcdh11x |
G |
A |
X: 119,310,611 (GRCm39) |
V685I |
possibly damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,138,288 (GRCm39) |
V212E |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,101,243 (GRCm39) |
D2249G |
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,742,254 (GRCm39) |
S317T |
possibly damaging |
Het |
| Ssc5d |
T |
A |
7: 4,940,111 (GRCm39) |
L822* |
probably null |
Het |
| Swt1 |
A |
G |
1: 151,286,890 (GRCm39) |
S201P |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,715,553 (GRCm39) |
M81L |
probably benign |
Het |
| Tex9 |
T |
A |
9: 72,395,349 (GRCm39) |
N39I |
probably damaging |
Het |
| Ttc4 |
T |
C |
4: 106,520,360 (GRCm39) |
Y378C |
probably damaging |
Het |
| Ubap2 |
T |
C |
4: 41,195,155 (GRCm39) |
N1131S |
probably damaging |
Het |
| Ugt2b35 |
C |
T |
5: 87,156,165 (GRCm39) |
T419I |
probably damaging |
Het |
| Ugt3a1 |
T |
G |
15: 9,367,354 (GRCm39) |
F366V |
probably damaging |
Het |
| Zfp324 |
A |
G |
7: 12,703,362 (GRCm39) |
T95A |
probably benign |
Het |
|
| Other mutations in Cyb5d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01897:Cyb5d1
|
APN |
11 |
69,284,587 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-06-21 |
Incidental Mutation