Incidental Mutation 'IGL02561:Cyb5a'
ID |
298669 |
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 # |
IGL02561
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
84869463-84897996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 84889637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 46
(G46D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124480
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025549]
[ENSMUST00000160180]
[ENSMUST00000163083]
|
AlphaFold |
P56395 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025549
AA Change: G46D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025549 Gene: ENSMUSG00000024646 AA Change: G46D
Domain | Start | End | E-Value | Type |
Cyt-b5
|
12 |
85 |
7.45e-28 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159846
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160180
AA Change: G46D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124480 Gene: ENSMUSG00000024646 AA Change: G46D
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: G22D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124412 Gene: ENSMUSG00000024646 AA Change: G22D
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
T |
A |
5: 105,125,536 (GRCm39) |
Q49L |
probably benign |
Het |
Aifm2 |
A |
G |
10: 61,561,786 (GRCm39) |
D44G |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,228,366 (GRCm39) |
T2241A |
probably benign |
Het |
Cntn4 |
C |
T |
6: 106,500,470 (GRCm39) |
P316S |
probably damaging |
Het |
Ctnna2 |
G |
T |
6: 77,822,563 (GRCm39) |
S13R |
probably benign |
Het |
Daam1 |
T |
C |
12: 71,993,290 (GRCm39) |
V353A |
unknown |
Het |
Ddx6 |
C |
T |
9: 44,545,465 (GRCm39) |
T417I |
probably damaging |
Het |
Fcgbp |
C |
T |
7: 27,800,599 (GRCm39) |
|
probably benign |
Het |
Gdi2 |
T |
C |
13: 3,598,954 (GRCm39) |
I46T |
possibly damaging |
Het |
Gm3629 |
T |
C |
14: 17,805,586 (GRCm39) |
|
probably benign |
Het |
Grap2 |
A |
T |
15: 80,532,049 (GRCm39) |
|
probably benign |
Het |
Gsto2 |
T |
C |
19: 47,874,629 (GRCm39) |
|
probably benign |
Het |
Gtf2a1 |
A |
T |
12: 91,542,527 (GRCm39) |
D57E |
possibly damaging |
Het |
Hif1a |
A |
G |
12: 73,988,980 (GRCm39) |
I622M |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,685,477 (GRCm39) |
T328A |
probably benign |
Het |
Ighv1-54 |
T |
C |
12: 115,157,389 (GRCm39) |
K86R |
probably benign |
Het |
Igkv4-55 |
C |
T |
6: 69,584,360 (GRCm39) |
S84N |
probably damaging |
Het |
Ilvbl |
T |
C |
10: 78,412,978 (GRCm39) |
S167P |
probably benign |
Het |
Kcnn2 |
A |
G |
18: 45,725,259 (GRCm39) |
I252V |
possibly damaging |
Het |
Lss |
T |
C |
10: 76,376,264 (GRCm39) |
|
probably benign |
Het |
Mlip |
C |
A |
9: 77,088,633 (GRCm39) |
|
probably null |
Het |
Ncbp1 |
C |
T |
4: 46,159,711 (GRCm39) |
T408M |
possibly damaging |
Het |
Notch4 |
A |
G |
17: 34,787,134 (GRCm39) |
|
probably benign |
Het |
Npepps |
A |
T |
11: 97,120,675 (GRCm39) |
C528* |
probably null |
Het |
Nxf2 |
T |
C |
X: 133,857,201 (GRCm39) |
T163A |
probably benign |
Het |
Or4c119 |
T |
C |
2: 88,987,485 (GRCm39) |
I11M |
possibly damaging |
Het |
Phka1 |
A |
T |
X: 101,641,895 (GRCm39) |
|
probably benign |
Het |
Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
Robo3 |
A |
G |
9: 37,338,387 (GRCm39) |
S343P |
possibly damaging |
Het |
Smarca2 |
A |
G |
19: 26,693,582 (GRCm39) |
D1262G |
possibly damaging |
Het |
Spns1 |
C |
T |
7: 125,972,941 (GRCm39) |
|
probably null |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ttpal |
A |
G |
2: 163,449,369 (GRCm39) |
T75A |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,301,652 (GRCm39) |
T359A |
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zic2 |
A |
T |
14: 122,715,957 (GRCm39) |
K360* |
probably null |
Het |
|
Other mutations in Cyb5a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01320:Cyb5a
|
APN |
18 |
84,897,648 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
2015-04-16 |