Incidental Mutation 'IGL01320:Cyb5a'
| ID |
74023 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyb5a
|
| Ensembl Gene |
ENSMUSG00000024646 |
| Gene Name |
cytochrome b5 type A (microsomal) |
| Synonyms |
0610009N12Rik, Cyb5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
IGL01320
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
84869463-84897996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84897648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 115
(I115T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025549]
[ENSMUST00000160180]
[ENSMUST00000163083]
|
| AlphaFold |
P56395 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025549
|
| SMART Domains |
Protein: ENSMUSP00000025549
Gene: ENSMUSG00000024646
| Domain | Start | End | E-Value | Type |
|---|
|
Cyt-b5
|
12 |
85 |
7.45e-28 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159837
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160180
AA Change: I115T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124480
Gene: ENSMUSG00000024646
AA Change: I115T
| Domain | Start | End | E-Value | Type |
|---|
|
Cyt-b5
|
12 |
85 |
7.45e-28 |
SMART |
|
transmembrane domain
|
109 |
131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163083
AA Change: I91T
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124412
Gene: ENSMUSG00000024646
AA Change: I91T
| Domain | Start | End | E-Value | Type |
|---|
|
Cyt-b5
|
1 |
61 |
1.66e-2 |
SMART |
|
transmembrane domain
|
85 |
107 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a conditional allele exhibit abnormal pharmacokinetics of xenobiotics following cre-mediated recombination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,552,551 (GRCm39) |
E229G |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,988 (GRCm39) |
S1410T |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,039,159 (GRCm39) |
|
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,902,614 (GRCm39) |
I421T |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
| Crnn |
T |
C |
3: 93,055,519 (GRCm39) |
S102P |
probably damaging |
Het |
| Daw1 |
T |
C |
1: 83,175,901 (GRCm39) |
I213T |
possibly damaging |
Het |
| Dcp1b |
T |
A |
6: 119,192,036 (GRCm39) |
S317R |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
| E2f7 |
G |
A |
10: 110,589,954 (GRCm39) |
V36I |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,384,374 (GRCm39) |
I103T |
possibly damaging |
Het |
| Hap1 |
G |
A |
11: 100,240,206 (GRCm39) |
T530I |
probably damaging |
Het |
| Hps3 |
T |
C |
3: 20,084,633 (GRCm39) |
N185S |
probably benign |
Het |
| Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,062,040 (GRCm39) |
T332A |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,027,784 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,186,991 (GRCm39) |
V11A |
probably benign |
Het |
| Nipsnap2 |
C |
T |
5: 129,821,828 (GRCm39) |
T108M |
probably damaging |
Het |
| Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,362,629 (GRCm39) |
M84K |
probably benign |
Het |
| Ppid |
A |
G |
3: 79,502,584 (GRCm39) |
E46G |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,866,375 (GRCm39) |
L626P |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,240,606 (GRCm39) |
I410F |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,517 (GRCm39) |
|
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| St8sia5 |
A |
T |
18: 77,342,318 (GRCm39) |
T307S |
probably damaging |
Het |
| Stac2 |
T |
C |
11: 97,930,921 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
C |
17: 3,556,020 (GRCm39) |
L77P |
probably damaging |
Het |
| Tmem87b |
G |
T |
2: 128,673,136 (GRCm39) |
G190V |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,954,565 (GRCm39) |
S32P |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,803,219 (GRCm39) |
|
probably null |
Het |
| Wnt1 |
C |
A |
15: 98,690,404 (GRCm39) |
D244E |
possibly damaging |
Het |
|
| Other mutations in Cyb5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01404:Cyb5a
|
APN |
18 |
84,895,985 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02152:Cyb5a
|
APN |
18 |
84,891,281 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02179:Cyb5a
|
APN |
18 |
84,891,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02561:Cyb5a
|
APN |
18 |
84,889,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02590:Cyb5a
|
APN |
18 |
84,889,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0011:Cyb5a
|
UTSW |
18 |
84,895,947 (GRCm39) |
splice site |
probably benign |
|
|
R1122:Cyb5a
|
UTSW |
18 |
84,895,964 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1495:Cyb5a
|
UTSW |
18 |
84,869,605 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R1796:Cyb5a
|
UTSW |
18 |
84,869,686 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4402:Cyb5a
|
UTSW |
18 |
84,889,718 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5237:Cyb5a
|
UTSW |
18 |
84,889,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6101:Cyb5a
|
UTSW |
18 |
84,889,718 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6105:Cyb5a
|
UTSW |
18 |
84,889,718 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6771:Cyb5a
|
UTSW |
18 |
84,889,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8546:Cyb5a
|
UTSW |
18 |
84,889,759 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8736:Cyb5a
|
UTSW |
18 |
84,869,560 (GRCm39) |
unclassified |
probably benign |
|
|
R9365:Cyb5a
|
UTSW |
18 |
84,894,979 (GRCm39) |
intron |
probably benign |
|
|
R9579:Cyb5a
|
UTSW |
18 |
84,891,273 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Posted On |
2013-10-07 |
Incidental Mutation