Mutagenetix > Incidental Mutation

Incidental Mutation 'R9365:Cyb5a'

731289

Institutional Source

Beutler Lab

Gene Symbol

Cyb5a

Ensembl Gene

ENSMUSG00000024646

Gene Name

cytochrome b5 type A (microsomal)

Synonyms

0610009N12Rik, Cyb5

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R9365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84869463-84897996 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 84894979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably benign
Transcript: ENSMUST00000160180

SMART Domains

Protein: ENSMUSP00000124480
Gene: ENSMUSG00000024646

Domain	Start	End	E-Value	Type
Cyt-b5	12	85	7.45e-28	SMART
transmembrane domain	109	131	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163083

SMART Domains

Protein: ENSMUSP00000124412
Gene: ENSMUSG00000024646

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Ahi1	G	A	10: 20,848,035 (GRCm39)	R481Q	probably damaging	Het
Arhgef3	T	C	14: 27,101,555 (GRCm39)	I77T	probably damaging	Het
Ash1l	T	A	3: 88,889,207 (GRCm39)	V362E	possibly damaging	Het
Bcat2	T	A	7: 45,225,294 (GRCm39)	F57L	probably damaging	Het
Ccdc73	C	T	2: 104,738,011 (GRCm39)	L36F	probably damaging	Het
Ccl19	C	T	4: 42,756,288 (GRCm39)	V15I	probably benign	Het
Cenpe	T	A	3: 134,954,207 (GRCm39)	V1688E	possibly damaging	Het
Ces1a	A	T	8: 93,774,727 (GRCm39)	F4I	probably benign	Het
Chchd6	G	A	6: 89,551,413 (GRCm39)	P83S	probably benign	Het
Cnr1	T	C	4: 33,943,798 (GRCm39)	M62T	probably benign	Het
Colec12	T	C	18: 9,848,146 (GRCm39)	L108P	probably damaging	Het
Dhrs4	C	T	14: 55,724,776 (GRCm39)	T181I	probably benign	Het
Disc1	T	C	8: 125,851,285 (GRCm39)	S392P	probably benign	Het
Dnah3	A	G	7: 119,566,859 (GRCm39)	F69L		Het
Ehmt1	T	C	2: 24,728,722 (GRCm39)	D726G	probably damaging	Het
Epg5	T	A	18: 77,997,957 (GRCm39)	L462I	probably damaging	Het
Exoc2	A	T	13: 31,040,697 (GRCm39)	S774T	probably benign	Het
Fam135b	A	G	15: 71,334,813 (GRCm39)	S794P	probably benign	Het
Frmd4a	T	C	2: 4,606,973 (GRCm39)	V646A	probably benign	Het
Gm3543	G	T	14: 41,804,093 (GRCm39)	D57E	possibly damaging	Het
Golgb1	T	A	16: 36,736,124 (GRCm39)	D1831E	probably damaging	Het
Hace1	T	G	10: 45,586,092 (GRCm39)		probably null	Het
Irgc	T	C	7: 24,131,872 (GRCm39)	E315G	possibly damaging	Het
Ism1	A	G	2: 139,582,321 (GRCm39)	Y211C	probably damaging	Het
Kpna1	T	G	16: 35,833,287 (GRCm39)	V121G	probably damaging	Het
Lifr	T	A	15: 7,198,521 (GRCm39)	F250L	probably damaging	Het
Llgl2	A	G	11: 115,740,407 (GRCm39)	T368A	probably benign	Het
Lmln	T	A	16: 32,925,169 (GRCm39)	C467*	probably null	Het
Lrrtm3	T	C	10: 63,923,943 (GRCm39)	E408G	probably benign	Het
Melk	C	T	4: 44,340,693 (GRCm39)	A330V	probably null	Het
Mmp13	T	G	9: 7,277,921 (GRCm39)	D271E	probably benign	Het
Myh11	T	C	16: 14,052,297 (GRCm39)	T390A		Het
Myh8	A	G	11: 67,174,632 (GRCm39)	K249R	probably benign	Het
Nr1h4	T	A	10: 89,319,315 (GRCm39)	M184L	probably damaging	Het
Obscn	T	A	11: 58,885,337 (GRCm39)		probably null	Het
Otog	T	G	7: 45,920,688 (GRCm39)	C964G	probably damaging	Het
Oxct2b	T	C	4: 123,010,589 (GRCm39)	S170P	probably benign	Het
Pcdha4	T	C	18: 37,087,112 (GRCm39)	S432P	possibly damaging	Het
Prb1a	T	A	6: 132,184,201 (GRCm39)	R477S	unknown	Het
Prh1	G	A	6: 132,549,108 (GRCm39)	G205D	unknown	Het
Psg23	C	T	7: 18,344,393 (GRCm39)	G354D	probably damaging	Het
Pura	T	G	18: 36,420,913 (GRCm39)	D233E	possibly damaging	Het
Rb1cc1	G	T	1: 6,315,117 (GRCm39)	L423F	probably damaging	Het
Rimbp3	T	C	16: 17,026,620 (GRCm39)	S15P	possibly damaging	Het
Scn1a	A	G	2: 66,148,465 (GRCm39)	F7L	probably benign	Het
Sftpb	A	T	6: 72,284,189 (GRCm39)	R203*	probably null	Het
Slc30a9	A	G	5: 67,507,142 (GRCm39)	K478R	probably damaging	Het
Slc35f5	T	A	1: 125,496,333 (GRCm39)	M156K	probably benign	Het
Slc41a3	A	G	6: 90,612,327 (GRCm39)	I232V	probably benign	Het
Slit2	A	G	5: 48,461,534 (GRCm39)	D1527G	probably benign	Het
Srfbp1	T	G	18: 52,623,540 (GRCm39)	V389G	possibly damaging	Het
Sun2	C	T	15: 79,622,720 (GRCm39)		probably null	Het
Tep1	G	T	14: 51,064,597 (GRCm39)	A2386D	probably damaging	Het
Tex15	T	A	8: 34,064,564 (GRCm39)	S1331R	possibly damaging	Het
Tgm1	A	T	14: 55,942,349 (GRCm39)	N667K	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tsen54	T	C	11: 115,713,410 (GRCm39)	F438L	probably damaging	Het
Ube4a	T	C	9: 44,862,191 (GRCm39)	H150R	probably benign	Het
Uty	T	C	Y: 1,099,712 (GRCm39)	N1161S	possibly damaging	Het
Vmn2r16	T	A	5: 109,488,064 (GRCm39)	D312E	probably damaging	Het
Wdr55	T	G	18: 36,893,354 (GRCm39)	C5W	probably damaging	Het
Zbtb24	C	A	10: 41,332,540 (GRCm39)	P405Q	probably damaging	Het
Zkscan2	T	A	7: 123,079,591 (GRCm39)	I789F	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
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
R9579:Cyb5a	UTSW	18	84,891,273 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- CCTCTGGTGTCTCACATGATTG -3'
(R):5'- TTCAACAGAAGCAGCTACAGG -3'

Sequencing Primer
(F):5'- CACATGATTGTGTTCCTTGTAACTG -3'
(R):5'- GCTACAGGCAAGCTCGAC -3'

Posted On

2022-10-12