Incidental Mutation 'R6771:Cyb5a'
| ID |
532188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyb5a
|
| Ensembl Gene |
ENSMUSG00000024646 |
| Gene Name |
cytochrome b5 type A (microsomal) |
| Synonyms |
0610009N12Rik, Cyb5 |
| MMRRC Submission |
044887-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R6771 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
84869463-84897996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84889755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 61
(H61Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025549]
[ENSMUST00000160180]
[ENSMUST00000163083]
|
| AlphaFold |
P56395 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025549
AA Change: H85Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025549
Gene: ENSMUSG00000024646
AA Change: H85Q
| Domain | Start | End | E-Value | Type |
|---|
|
Cyt-b5
|
12 |
85 |
7.45e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160180
AA Change: H85Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124480
Gene: ENSMUSG00000024646
AA Change: H85Q
| 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: H61Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124412
Gene: ENSMUSG00000024646
AA Change: H61Q
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.3%
|
| Validation Efficiency |
95% (37/39) |
| 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 |
|---|
| Abhd8 |
G |
T |
8: 71,914,105 (GRCm39) |
H174Q |
probably damaging |
Het |
| Apoa4 |
G |
A |
9: 46,154,465 (GRCm39) |
M355I |
probably benign |
Het |
| Apol8 |
A |
T |
15: 77,637,258 (GRCm39) |
|
probably null |
Het |
| Arvcf |
A |
G |
16: 18,222,614 (GRCm39) |
T792A |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,094,079 (GRCm39) |
|
probably null |
Het |
| Atp9a |
A |
T |
2: 168,516,820 (GRCm39) |
Y340N |
probably damaging |
Het |
| C1rb |
T |
G |
6: 124,554,364 (GRCm39) |
S382A |
probably benign |
Het |
| Clmn |
A |
G |
12: 104,740,041 (GRCm39) |
V962A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,121,408 (GRCm39) |
V1763A |
possibly damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,450,454 (GRCm39) |
D255E |
probably damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,450,269 (GRCm39) |
R317L |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,524,875 (GRCm39) |
R92G |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,808 (GRCm39) |
I1192N |
probably damaging |
Het |
| Flg |
T |
C |
3: 93,195,630 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,746,800 (GRCm39) |
I623M |
possibly damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,140,366 (GRCm39) |
K801E |
probably damaging |
Het |
| Gpr35 |
T |
A |
1: 92,910,426 (GRCm39) |
M46K |
probably damaging |
Het |
| Ighv2-9 |
T |
G |
12: 113,842,807 (GRCm39) |
S87R |
probably damaging |
Het |
| Kdm4b |
C |
T |
17: 56,658,754 (GRCm39) |
A33V |
possibly damaging |
Het |
| Klhl5 |
T |
A |
5: 65,321,995 (GRCm39) |
Y534N |
probably damaging |
Het |
| Marchf8 |
T |
C |
6: 116,379,004 (GRCm39) |
S313P |
probably benign |
Het |
| Mccc1 |
C |
T |
3: 36,043,992 (GRCm39) |
|
probably null |
Het |
| Memo1 |
A |
T |
17: 74,508,273 (GRCm39) |
F270L |
probably damaging |
Het |
| Nxpe3 |
C |
A |
16: 55,686,471 (GRCm39) |
G179V |
probably damaging |
Het |
| Or4k15c |
C |
A |
14: 50,321,446 (GRCm39) |
A231S |
probably damaging |
Het |
| Or5b120 |
T |
A |
19: 13,480,318 (GRCm39) |
F204I |
possibly damaging |
Het |
| Or7g35 |
C |
T |
9: 19,496,675 (GRCm39) |
L281F |
probably benign |
Het |
| Otp |
A |
G |
13: 95,012,294 (GRCm39) |
D6G |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,643,698 (GRCm39) |
N350I |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,018,222 (GRCm39) |
|
probably null |
Het |
| Rassf10 |
A |
G |
7: 112,553,635 (GRCm39) |
M79V |
probably benign |
Het |
| Rbm12 |
A |
T |
2: 155,939,375 (GRCm39) |
I299N |
possibly damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Scfd2 |
T |
C |
5: 74,692,117 (GRCm39) |
H55R |
probably benign |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Sp110 |
C |
T |
1: 85,520,000 (GRCm39) |
|
probably null |
Het |
| Syde2 |
G |
A |
3: 145,704,803 (GRCm39) |
G318E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,538,883 (GRCm39) |
D34649V |
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 |
|
|
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 |
|
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'- TGCAGTGGGCTATCTGATCAG -3'
(R):5'- ACCCCGAGTTCAGCAATAACTG -3'
Sequencing Primer
(F):5'- TGGGCTATCTGATCAGATAAGC -3'
(R):5'- AGGTATCCTGTTAAGCACCG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation