Mutagenetix > Incidental Mutation

Incidental Mutation 'RF060:Cyb5r4'

605386

Institutional Source

Beutler Lab

Gene Symbol

Cyb5r4

Ensembl Gene

ENSMUSG00000032872

Gene Name

cytochrome b5 reductase 4

Synonyms

Ncb5or, 2810034J18Rik, B5+B5R, b5/b5r

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF060 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

86904082-86959827 bp(+) (GRCm39)

Type of Mutation

small insertion (8 aa in frame mutation)

DNA Base Change (assembly)

ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA to ACTGCCCAGGGATCTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA at 86922466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168529]

AlphaFold

Q3TDX8

Predicted Effect

probably benign
Transcript: ENSMUST00000168529

SMART Domains

Protein: ENSMUSP00000126119
Gene: ENSMUSG00000032872

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
Cyt-b5	57	130	2.56e-26	SMART
Pfam:CS	175	253	4.1e-16	PFAM
Pfam:FAD_binding_6	284	391	4.1e-22	PFAM
Pfam:NAD_binding_1	402	508	4.7e-18	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]
PHENOTYPE: Homozygous null mice exhibit defects in glucose homeostasis and pancreatic abnormalities consistent with symptoms of diabetes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	CTGTGGCTG	CTGTGGCTGATGTGGCTG	1: 82,891,300 (GRCm39)		probably null	Het
A030005L19Rik	TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG	TGGCTGTGGCTGTGG	1: 82,891,117 (GRCm39)		probably benign	Het
A030005L19Rik	GCTG	GCTGTGGCTTCTG	1: 82,891,308 (GRCm39)		probably benign	Het
Ankhd1	G	GTGGCGC	18: 36,693,975 (GRCm39)		probably benign	Het
Cacna1f	GAG	GAGCAG	X: 7,486,299 (GRCm39)		probably benign	Het
Cd109	ATTTATTTAT	ATTTATTTATTTCTTTATTTAT	9: 78,619,807 (GRCm39)		probably benign	Het
Chd4	CC	CCACTGGC	6: 125,099,108 (GRCm39)		probably benign	Het
Chga	GCA	GCATCA	12: 102,527,683 (GRCm39)		probably benign	Het
Dnmt1	CGTT	CGTTGTGGGGGAGGAGCACAGTTCCTACCTAGTT	9: 20,821,438 (GRCm39)		probably null	Het
Fam171b	GC	GCCGCAAC	2: 83,643,221 (GRCm39)		probably benign	Het
Fkbp1a	GCCGCCGCCA	G	2: 151,384,619 (GRCm39)		probably null	Het
Gab3	TTC	TTCCTC	X: 74,043,619 (GRCm39)		probably benign	Het
Garin5a	GTCTGAGGGAGGA	GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGTTCTGAGGGAGGA	7: 44,149,949 (GRCm39)		probably null	Het
Garin5a	GAGGA	GAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGGTAGGA	7: 44,149,957 (GRCm39)		probably null	Het
Hsdl2	AAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	AAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,608 (GRCm39)		probably benign	Het
Klra10	TGTAGT	TGT	6: 130,252,784 (GRCm39)		probably benign	Het
L1td1	GAGGAGGAGGAGGAGGAGGGGGAGGAGGAGAAGGAGGA	GAGGAGGA	4: 98,625,031 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGTAG	X: 70,162,437 (GRCm39)		probably null	Het
Mamld1	AGC	AGCCGC	X: 70,162,438 (GRCm39)		probably benign	Het
Map1a	A	AGCTCCAGCTCCAGCTCCAGCTCCAGCTCCC	2: 121,136,799 (GRCm39)		probably benign	Het
Nefh	GACTTGGCC	GACTTGGCCCCACCTGGGTACTTGGCC	11: 4,891,050 (GRCm39)		probably benign	Het
Nefh	CT	CTGGGCTTCACCTGGGGATT	11: 4,891,052 (GRCm39)		probably benign	Het
Pdk1	CTGGCCT	C	2: 71,703,789 (GRCm39)		probably benign	Het
Pou3f1	GC	GCGGCGCC	4: 124,551,602 (GRCm39)		probably benign	Het
Rfx4	T	TCTCTCTCTCTCTCTCC	10: 84,694,358 (GRCm39)		probably benign	Het
Spaca1	CTCGCT	CTCGCTGTCGCT	4: 34,049,841 (GRCm39)		probably benign	Het
Spmap2l	CAG	CAGCGATCCTCCCCAGTCCCGCAAGGCAAG	5: 77,164,274 (GRCm39)		probably benign	Het
St3gal5	G	GCACTC	6: 72,074,836 (GRCm39)		probably null	Het
Stat1	G	T	1: 52,191,419 (GRCm39)	E591D	probably benign	Het
Tcof1	CAG	CAGTAG	18: 60,968,816 (GRCm39)		probably benign	Het
Tcof1	C	CAGT	18: 60,968,819 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,031 (GRCm39)		probably benign	Het
Tmem59	TTTGTTT	TTTGTTTGCTTGTTT	4: 107,047,723 (GRCm39)		probably benign	Het
Zfhx3	G	GAAACAGCAA	8: 109,682,720 (GRCm39)		probably benign	Het

Other mutations in Cyb5r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01833:Cyb5r4	APN	9	86,941,505 (GRCm39)	critical splice donor site	probably null
cello	UTSW	9	86,911,591 (GRCm39)	nonsense	probably null
viol	UTSW	9	86,941,130 (GRCm39)	critical splice donor site	probably null
PIT1430001:Cyb5r4	UTSW	9	86,920,791 (GRCm39)	missense	probably benign
R0040:Cyb5r4	UTSW	9	86,948,795 (GRCm39)	splice site	probably null
R0373:Cyb5r4	UTSW	9	86,909,093 (GRCm39)	missense	probably damaging	0.99
R0755:Cyb5r4	UTSW	9	86,911,625 (GRCm39)	missense	probably damaging	1.00
R1381:Cyb5r4	UTSW	9	86,904,286 (GRCm39)	missense	probably benign	0.03
R1488:Cyb5r4	UTSW	9	86,911,591 (GRCm39)	nonsense	probably null
R1510:Cyb5r4	UTSW	9	86,948,696 (GRCm39)	intron	probably benign
R1856:Cyb5r4	UTSW	9	86,904,262 (GRCm39)	missense	possibly damaging	0.61
R1857:Cyb5r4	UTSW	9	86,923,332 (GRCm39)	missense	probably benign	0.00
R1858:Cyb5r4	UTSW	9	86,923,332 (GRCm39)	missense	probably benign	0.00
R1870:Cyb5r4	UTSW	9	86,922,462 (GRCm39)	missense	probably benign	0.00
R1876:Cyb5r4	UTSW	9	86,937,867 (GRCm39)	missense	probably damaging	1.00
R1959:Cyb5r4	UTSW	9	86,937,902 (GRCm39)	missense	possibly damaging	0.82
R2036:Cyb5r4	UTSW	9	86,924,932 (GRCm39)	splice site	probably benign
R2895:Cyb5r4	UTSW	9	86,922,452 (GRCm39)	nonsense	probably null
R4226:Cyb5r4	UTSW	9	86,939,282 (GRCm39)	missense	probably damaging	0.99
R4655:Cyb5r4	UTSW	9	86,941,482 (GRCm39)	missense	probably benign	0.01
R4971:Cyb5r4	UTSW	9	86,939,224 (GRCm39)	missense	possibly damaging	0.80
R5038:Cyb5r4	UTSW	9	86,941,130 (GRCm39)	critical splice donor site	probably null
R5155:Cyb5r4	UTSW	9	86,922,456 (GRCm39)	missense	probably benign	0.08
R5187:Cyb5r4	UTSW	9	86,909,001 (GRCm39)	missense	possibly damaging	0.92
R5654:Cyb5r4	UTSW	9	86,929,533 (GRCm39)	missense	probably damaging	0.98
R5659:Cyb5r4	UTSW	9	86,937,881 (GRCm39)	missense	probably benign	0.22
R5926:Cyb5r4	UTSW	9	86,939,314 (GRCm39)	missense	probably benign	0.04
R6083:Cyb5r4	UTSW	9	86,939,221 (GRCm39)	missense	probably damaging	1.00
R6610:Cyb5r4	UTSW	9	86,941,470 (GRCm39)	missense	probably benign
R7311:Cyb5r4	UTSW	9	86,937,835 (GRCm39)	missense	probably damaging	1.00
R7662:Cyb5r4	UTSW	9	86,909,091 (GRCm39)	missense	possibly damaging	0.83
R7748:Cyb5r4	UTSW	9	86,914,434 (GRCm39)	missense	probably damaging	1.00
R8171:Cyb5r4	UTSW	9	86,924,863 (GRCm39)	missense	possibly damaging	0.81
R8253:Cyb5r4	UTSW	9	86,941,108 (GRCm39)	missense	probably damaging	1.00
R8369:Cyb5r4	UTSW	9	86,922,486 (GRCm39)	missense	probably benign	0.00
R8816:Cyb5r4	UTSW	9	86,904,286 (GRCm39)	missense	probably benign	0.31
RF001:Cyb5r4	UTSW	9	86,922,469 (GRCm39)	small insertion	probably benign
RF006:Cyb5r4	UTSW	9	86,922,494 (GRCm39)	small insertion	probably benign
RF006:Cyb5r4	UTSW	9	86,922,478 (GRCm39)	small insertion	probably benign
RF013:Cyb5r4	UTSW	9	86,922,485 (GRCm39)	small insertion	probably benign
RF014:Cyb5r4	UTSW	9	86,922,468 (GRCm39)	small insertion	probably benign
RF015:Cyb5r4	UTSW	9	86,922,491 (GRCm39)	small insertion	probably benign
RF015:Cyb5r4	UTSW	9	86,922,485 (GRCm39)	small insertion	probably benign
RF016:Cyb5r4	UTSW	9	86,922,497 (GRCm39)	small insertion	probably benign
RF016:Cyb5r4	UTSW	9	86,922,494 (GRCm39)	small insertion	probably benign
RF016:Cyb5r4	UTSW	9	86,922,478 (GRCm39)	small insertion	probably benign
RF024:Cyb5r4	UTSW	9	86,922,488 (GRCm39)	small insertion	probably benign
RF025:Cyb5r4	UTSW	9	86,922,497 (GRCm39)	small insertion	probably benign
RF026:Cyb5r4	UTSW	9	86,922,486 (GRCm39)	small insertion	probably benign
RF027:Cyb5r4	UTSW	9	86,922,484 (GRCm39)	small insertion	probably benign
RF029:Cyb5r4	UTSW	9	86,922,495 (GRCm39)	small insertion	probably benign
RF029:Cyb5r4	UTSW	9	86,922,483 (GRCm39)	small insertion	probably benign
RF030:Cyb5r4	UTSW	9	86,922,468 (GRCm39)	small insertion	probably benign
RF030:Cyb5r4	UTSW	9	86,922,462 (GRCm39)	small insertion	probably benign
RF031:Cyb5r4	UTSW	9	86,922,498 (GRCm39)	small insertion	probably benign
RF032:Cyb5r4	UTSW	9	86,922,466 (GRCm39)	small insertion	probably benign
RF034:Cyb5r4	UTSW	9	86,922,500 (GRCm39)	nonsense	probably null
RF034:Cyb5r4	UTSW	9	86,922,470 (GRCm39)	small insertion	probably benign
RF036:Cyb5r4	UTSW	9	86,922,483 (GRCm39)	small insertion	probably benign
RF038:Cyb5r4	UTSW	9	86,922,495 (GRCm39)	small insertion	probably benign
RF040:Cyb5r4	UTSW	9	86,922,462 (GRCm39)	small insertion	probably benign
RF043:Cyb5r4	UTSW	9	86,922,484 (GRCm39)	small insertion	probably benign
RF043:Cyb5r4	UTSW	9	86,922,464 (GRCm39)	small insertion	probably benign
RF045:Cyb5r4	UTSW	9	86,922,500 (GRCm39)	small insertion	probably benign
RF045:Cyb5r4	UTSW	9	86,922,455 (GRCm39)	nonsense	probably null
RF052:Cyb5r4	UTSW	9	86,922,475 (GRCm39)	small insertion	probably benign
RF053:Cyb5r4	UTSW	9	86,922,475 (GRCm39)	small insertion	probably benign
RF055:Cyb5r4	UTSW	9	86,922,491 (GRCm39)	small insertion	probably benign
RF055:Cyb5r4	UTSW	9	86,922,467 (GRCm39)	small insertion	probably benign
RF056:Cyb5r4	UTSW	9	86,922,463 (GRCm39)	small insertion	probably benign
RF059:Cyb5r4	UTSW	9	86,922,498 (GRCm39)	small insertion	probably benign
RF061:Cyb5r4	UTSW	9	86,922,488 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CCACTGGGAGAGAGTAAGCTTTTG -3'
(R):5'- ATGAGGTACTGCAGTTCGTG -3'

Sequencing Primer
(F):5'- AAGAAAATGCTGGTGACAAGGGTTTC -3'
(R):5'- GCAGTTCGTGCGCTAAGC -3'

Posted On

2019-12-04