Mutagenetix > Incidental Mutation

Incidental Mutation 'R4402:Cyb5a'

326707

Institutional Source

Beutler Lab

Gene Symbol

Cyb5a

Ensembl Gene

ENSMUSG00000024646

Gene Name

cytochrome b5 type A (microsomal)

Synonyms

0610009N12Rik, Cyb5

MMRRC Submission

042003-MU

Accession Numbers

Essential gene?

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

Stock #

R4402 (G1)

Quality Score

225

Status

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (61/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,771,020 (GRCm39)	H167Q	probably benign	Het
Adamts20	T	C	15: 94,277,827 (GRCm39)	T212A	probably benign	Het
Ap3b1	C	A	13: 94,554,607 (GRCm39)	L248I	probably damaging	Het
Atl1	T	G	12: 70,005,973 (GRCm39)	D426E	probably benign	Het
Cage1	T	A	13: 38,207,078 (GRCm39)	I256F	probably damaging	Het
Calcr	A	T	6: 3,708,484 (GRCm39)		probably null	Het
Canx	T	C	11: 50,195,265 (GRCm39)	T268A	probably benign	Het
Chd7	A	T	4: 8,866,353 (GRCm39)	M842L	possibly damaging	Het
Clca4a	T	C	3: 144,658,609 (GRCm39)	T787A	probably benign	Het
Clstn3	T	C	6: 124,433,939 (GRCm39)	Y407C	probably damaging	Het
Copa	C	A	1: 171,929,791 (GRCm39)	T286N	probably damaging	Het
Def6	A	G	17: 28,438,950 (GRCm39)	K219E	probably damaging	Het
Eif4g1	G	T	16: 20,497,593 (GRCm39)		probably benign	Het
Eif5	A	T	12: 111,508,183 (GRCm39)	K161N	probably benign	Het
Fras1	C	A	5: 96,790,479 (GRCm39)	T951K	probably damaging	Het
Gen1	A	T	12: 11,292,363 (GRCm39)	N475K	possibly damaging	Het
Gm14569	T	C	X: 35,697,146 (GRCm39)	Y521C	probably benign	Het
Gm6124	T	A	7: 38,870,529 (GRCm39)		noncoding transcript	Het
Gpt2	A	T	8: 86,252,188 (GRCm39)	D501V	probably benign	Het
Gstm2	T	C	3: 107,893,370 (GRCm39)	K31R	probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Itga1	T	A	13: 115,138,102 (GRCm39)	M428L	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcnn4	T	C	7: 24,076,867 (GRCm39)	W139R	probably benign	Het
Kdm7a	T	A	6: 39,143,602 (GRCm39)	R380W	probably null	Het
Khdrbs1	T	G	4: 129,635,889 (GRCm39)	D22A	possibly damaging	Het
Liph	A	T	16: 21,795,000 (GRCm39)	I204N	probably damaging	Het
Loxhd1	A	G	18: 77,529,456 (GRCm39)	E2033G	possibly damaging	Het
M6pr	C	T	6: 122,291,982 (GRCm39)		probably benign	Het
Mrm1	A	G	11: 84,709,915 (GRCm39)	I95T	probably damaging	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Mug1	C	A	6: 121,856,311 (GRCm39)	F1030L	probably damaging	Het
Naca	C	T	10: 127,879,341 (GRCm39)		probably benign	Het
Nob1	A	T	8: 108,145,120 (GRCm39)		probably benign	Het
Nutm1	A	C	2: 112,080,154 (GRCm39)	I587R	probably damaging	Het
Or1e26	A	G	11: 73,480,081 (GRCm39)	V161A	probably benign	Het
Pcdhb2	A	G	18: 37,428,455 (GRCm39)	K143E	probably benign	Het
Pcnt	T	C	10: 76,228,227 (GRCm39)	Q1646R	probably benign	Het
Piwil2	A	T	14: 70,646,365 (GRCm39)	D390E	probably benign	Het
Pkhd1	A	G	1: 20,309,635 (GRCm39)	L2771P	probably damaging	Het
Pla2g1b	T	A	5: 115,608,947 (GRCm39)	Y47*	probably null	Het
Plekhn1	T	C	4: 156,309,813 (GRCm39)	T135A	probably damaging	Het
Pola1	T	C	X: 92,605,029 (GRCm39)	Y968C	probably damaging	Het
Ppp1r26	C	A	2: 28,341,618 (GRCm39)	T416K	probably benign	Het
Psmd1	A	G	1: 86,003,673 (GRCm39)	I153V	possibly damaging	Het
Rcan2	A	G	17: 44,264,361 (GRCm39)	D7G	probably benign	Het
Rexo5	T	C	7: 119,433,599 (GRCm39)	I326T	possibly damaging	Het
Rps6kc1	A	G	1: 190,530,802 (GRCm39)		probably benign	Het
Shc1	T	C	3: 89,333,985 (GRCm39)	S273P	probably benign	Het
Slc9b2	T	C	3: 135,042,305 (GRCm39)	V528A	probably benign	Het
Tas2r118	T	C	6: 23,969,293 (GRCm39)	K256R	probably benign	Het
Tma16	C	T	8: 66,936,823 (GRCm39)		probably null	Het
Tnfaip2	T	C	12: 111,416,285 (GRCm39)	F516L	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Wdr35	A	G	12: 9,039,981 (GRCm39)	D362G	probably damaging	Het
Wwp2	T	C	8: 108,184,610 (GRCm39)	V106A	probably benign	Het
Zfp40	T	A	17: 23,395,693 (GRCm39)	H230L	possibly damaging	Het
Zkscan17	T	A	11: 59,393,848 (GRCm39)	M1L	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
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'- TCTGCAGTGGGCTATCTGATC -3'
(R):5'- ACCCCGAGTTCAGCAATAACTG -3'

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

Posted On

2015-07-07