Incidental Mutation 'R6105:Cyb5a'
| ID |
485487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyb5a
|
| Ensembl Gene |
ENSMUSG00000024646 |
| Gene Name |
cytochrome b5 type A (microsomal) |
| Synonyms |
0610009N12Rik, Cyb5 |
| MMRRC Submission |
044255-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R6105 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
84869463-84897996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84889718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 49
(R49Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025549]
[ENSMUST00000160180]
[ENSMUST00000163083]
|
| AlphaFold |
P56395 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025549
AA Change: R73Q
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025549
Gene: ENSMUSG00000024646
AA Change: R73Q
| Domain | Start | End | E-Value | Type |
|---|
|
Cyt-b5
|
12 |
85 |
7.45e-28 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159846
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160180
AA Change: R73Q
PolyPhen 2
Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124480
Gene: ENSMUSG00000024646
AA Change: R73Q
| 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: R49Q
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124412
Gene: ENSMUSG00000024646
AA Change: R49Q
| Domain | Start | End | E-Value | Type |
|---|
|
Cyt-b5
|
1 |
61 |
1.66e-2 |
SMART |
|
transmembrane domain
|
85 |
107 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,347,812 (GRCm39) |
M3555T |
probably damaging |
Het |
| Adam9 |
A |
T |
8: 25,460,775 (GRCm39) |
C570S |
probably damaging |
Het |
| Adh6b |
T |
A |
3: 138,063,471 (GRCm39) |
I350K |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,981,463 (GRCm39) |
V916I |
probably benign |
Het |
| Aldh4a1 |
C |
T |
4: 139,365,806 (GRCm39) |
P266S |
possibly damaging |
Het |
| Cnot7 |
C |
T |
8: 40,963,078 (GRCm39) |
R32Q |
probably benign |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Glul |
T |
A |
1: 153,782,177 (GRCm39) |
Y137* |
probably null |
Het |
| Ipo8 |
A |
G |
6: 148,700,168 (GRCm39) |
Y570H |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,466,814 (GRCm39) |
S490P |
probably benign |
Het |
| Kxd1 |
A |
T |
8: 70,972,589 (GRCm39) |
N33K |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,016,749 (GRCm39) |
D355G |
probably damaging |
Het |
| Map6 |
T |
C |
7: 98,917,314 (GRCm39) |
V29A |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,435,432 (GRCm39) |
D1116G |
probably damaging |
Het |
| Or4p23 |
T |
A |
2: 88,577,184 (GRCm39) |
H16L |
probably benign |
Het |
| Or8b52 |
A |
G |
9: 38,576,916 (GRCm39) |
S75P |
probably damaging |
Het |
| Or8d2b |
T |
C |
9: 38,788,604 (GRCm39) |
L44P |
possibly damaging |
Het |
| Pak1ip1 |
T |
A |
13: 41,158,361 (GRCm39) |
L78Q |
probably damaging |
Het |
| Phf10 |
C |
T |
17: 15,174,387 (GRCm39) |
|
probably null |
Het |
| Pikfyve |
A |
G |
1: 65,303,504 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,367,478 (GRCm39) |
D1225G |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,279,641 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
T |
C |
19: 8,315,232 (GRCm39) |
|
probably null |
Het |
| Specc1l |
T |
C |
10: 75,084,466 (GRCm39) |
S730P |
probably damaging |
Het |
| Steap2 |
T |
A |
5: 5,725,891 (GRCm39) |
I378F |
possibly damaging |
Het |
| Sult4a1 |
T |
A |
15: 83,970,821 (GRCm39) |
K195* |
probably null |
Het |
| Tgfb1i1 |
T |
A |
7: 127,847,589 (GRCm39) |
|
probably null |
Het |
| Thbs4 |
G |
T |
13: 92,911,993 (GRCm39) |
Q246K |
possibly damaging |
Het |
| Tnfsf10 |
A |
G |
3: 27,389,698 (GRCm39) |
Y253C |
probably damaging |
Het |
| Tnpo3 |
G |
T |
6: 29,588,042 (GRCm39) |
C125* |
probably null |
Het |
| Trappc8 |
A |
G |
18: 20,979,504 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
C |
T |
19: 18,831,112 (GRCm39) |
R1326* |
probably null |
Het |
| Vmn2r19 |
A |
C |
6: 123,293,054 (GRCm39) |
E365D |
possibly damaging |
Het |
| Vps18 |
A |
G |
2: 119,119,543 (GRCm39) |
Y8C |
probably damaging |
Het |
| Zc3hav1l |
A |
G |
6: 38,270,012 (GRCm39) |
V279A |
probably benign |
Het |
| Zfp111 |
T |
C |
7: 23,902,791 (GRCm39) |
|
probably null |
Het |
| Zfp618 |
A |
T |
4: 63,051,478 (GRCm39) |
Q753L |
probably benign |
Het |
| Zkscan17 |
A |
T |
11: 59,394,401 (GRCm39) |
C67S |
probably 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 |
|
|
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 |
|
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'- GCAGTGGGCTATCTGATCAG -3'
(R):5'- CCCCGAGTTCAGCAATAACTG -3'
Sequencing Primer
(F):5'- TGGGCTATCTGATCAGATAAGC -3'
(R):5'- AGGTATCCTGTTAAGCACCG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation