Incidental Mutation 'R1122:Cyb5a'
| ID |
95792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyb5a
|
| Ensembl Gene |
ENSMUSG00000024646 |
| Gene Name |
cytochrome b5 type A (microsomal) |
| Synonyms |
0610009N12Rik, Cyb5 |
| MMRRC Submission |
039195-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R1122 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
84869463-84897996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84895964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 77
(T77A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124412
(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 |
noncoding transcript
Transcript: ENSMUST00000159846
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160180
AA Change: T101A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124480
Gene: ENSMUSG00000024646
AA Change: T101A
| Domain | Start | End | E-Value | Type |
|---|
|
Cyt-b5
|
12 |
85 |
7.45e-28 |
SMART |
|
transmembrane domain
|
109 |
131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163083
AA Change: T77A
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124412
Gene: ENSMUSG00000024646
AA Change: T77A
| Domain | Start | End | E-Value | Type |
|---|
|
Cyt-b5
|
1 |
61 |
1.66e-2 |
SMART |
|
transmembrane domain
|
85 |
107 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
G |
A |
11: 69,902,203 (GRCm39) |
L469F |
probably damaging |
Het |
| Adgrb1 |
C |
A |
15: 74,419,534 (GRCm39) |
R792S |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Arhgap15 |
A |
T |
2: 44,032,307 (GRCm39) |
H297L |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,943,597 (GRCm39) |
E333G |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,952,756 (GRCm39) |
E518G |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,650,821 (GRCm39) |
W456R |
possibly damaging |
Het |
| Fhip2a |
A |
T |
19: 57,370,733 (GRCm39) |
T551S |
probably benign |
Het |
| Gad2 |
A |
T |
2: 22,513,463 (GRCm39) |
Q31L |
possibly damaging |
Het |
| Gm9637 |
T |
A |
14: 19,401,879 (GRCm38) |
|
noncoding transcript |
Het |
| Itgav |
A |
G |
2: 83,622,283 (GRCm39) |
T622A |
probably benign |
Het |
| Kifc5b |
T |
A |
17: 27,143,035 (GRCm39) |
V269E |
probably benign |
Het |
| Lrrc15 |
T |
C |
16: 30,092,719 (GRCm39) |
N207D |
probably damaging |
Het |
| Map2k5 |
A |
G |
9: 63,170,445 (GRCm39) |
V291A |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,266,147 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or12d12 |
T |
A |
17: 37,611,019 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,542,934 (GRCm39) |
D109V |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,457,981 (GRCm39) |
V294A |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Rnf220 |
C |
T |
4: 117,135,277 (GRCm39) |
G171S |
probably benign |
Het |
| Slc6a4 |
T |
C |
11: 76,918,012 (GRCm39) |
S585P |
possibly damaging |
Het |
| Slc7a8 |
T |
C |
14: 54,961,564 (GRCm39) |
E528G |
probably benign |
Het |
| Slco4c1 |
A |
G |
1: 96,756,561 (GRCm39) |
I587T |
possibly damaging |
Het |
| Syt4 |
T |
A |
18: 31,573,255 (GRCm39) |
H420L |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,936,792 (GRCm39) |
K236E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,545,676 (GRCm39) |
V32549A |
probably damaging |
Het |
| Uqcc4 |
T |
C |
17: 25,403,846 (GRCm39) |
I62T |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,030,832 (GRCm39) |
H2299R |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,743,403 (GRCm39) |
V64A |
possibly damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAAAAGACAGTGACGCAGTCTTC -3'
(R):5'- AGCTGACAGTCTAGGATGGAACACC -3'
Sequencing Primer
(F):5'- AAGTTTCCGTTTTTATGTCGAAGTCC -3'
(R):5'- TCTAGGATGGAACACCCTGAAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation