Mutagenetix > Incidental Mutation

Incidental Mutation 'R6101:Cyb5a'

485277

Institutional Source

Beutler Lab

Gene Symbol

Cyb5a

Ensembl Gene

ENSMUSG00000024646

Gene Name

cytochrome b5 type A (microsomal)

Synonyms

0610009N12Rik, Cyb5

MMRRC Submission

044251-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R6101 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

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: 98.2%
20x: 95.0%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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
Arhgap11a	G	A	2: 113,665,219 (GRCm39)	R460*	probably null	Het
Chl1	A	T	6: 103,669,993 (GRCm39)	D477V	probably damaging	Het
Clstn3	A	T	6: 124,438,629 (GRCm39)	L45Q	probably damaging	Het
Cnot7	C	T	8: 40,963,078 (GRCm39)	R32Q	probably benign	Het
Csrnp1	T	C	9: 119,802,551 (GRCm39)	D220G	probably damaging	Het
Fblim1	G	A	4: 141,312,033 (GRCm39)	R231C	probably damaging	Het
Glul	T	A	1: 153,782,177 (GRCm39)	Y137*	probably null	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Igha	T	A	12: 113,220,017 (GRCm39)		probably benign	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
Lrrk2	T	C	15: 91,607,338 (GRCm39)	I567T	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
Mical3	A	T	6: 121,010,671 (GRCm39)	V437D	probably damaging	Het
Mief1	T	C	15: 80,133,941 (GRCm39)	Y333H	probably benign	Het
Or12j4	T	A	7: 140,046,432 (GRCm39)	V106D	probably benign	Het
Or4f7	A	G	2: 111,644,598 (GRCm39)	F158L	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
Pikfyve	A	G	1: 65,303,504 (GRCm39)		probably null	Het
Pinlyp	C	T	7: 24,245,405 (GRCm39)	R5K	possibly damaging	Het
Pkd1l3	A	G	8: 110,367,478 (GRCm39)	D1225G	probably damaging	Het
Pnma8b	T	A	7: 16,680,493 (GRCm39)	S492R	probably benign	Het
Postn	A	G	3: 54,279,641 (GRCm39)		probably null	Het
Ptprq	A	G	10: 107,416,127 (GRCm39)	Y1724H	possibly damaging	Het
Rpn2	T	A	2: 157,152,108 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,351,716 (GRCm39)	V755A	probably damaging	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
Tdrd12	A	T	7: 35,180,558 (GRCm39)	Y818*	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
Trim58	A	G	11: 58,542,441 (GRCm39)	N467S	probably benign	Het
Trpm6	C	T	19: 18,831,112 (GRCm39)	R1326*	probably null	Het
Zc3hav1l	A	G	6: 38,270,012 (GRCm39)	V279A	probably benign	Het
Zfp618	A	T	4: 63,051,478 (GRCm39)	Q753L	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	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
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'- GCAGTGGGCTATCTGATCAG -3'
(R):5'- CCCCGAGTTCAGCAATAACTG -3'

Sequencing Primer
(F):5'- TGGGCTATCTGATCAGATAAGC -3'
(R):5'- AGGTATCCTGTTAAGCACCG -3'

Posted On

2017-08-16