Mutagenetix > Incidental Mutation

Incidental Mutation 'RF056:Cyb5r4'

605280

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 #

RF056 (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)

CACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA to CACACTGCCCAGGGATGTGACAGAGACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA at 86922463 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: 98.6%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Begain	CG	CGCCGCAG	12: 108,999,362 (GRCm39)		probably benign	Het
Bhlhb9	C	T	X: 134,791,239 (GRCm39)	L484F	possibly damaging	Het
Cacna1f	GA	GAGTA	X: 7,486,314 (GRCm39)		probably null	Het
Chga	GCA	GCATCA	12: 102,527,683 (GRCm39)		probably benign	Het
Cnpy3	CCT	CCTACT	17: 47,047,670 (GRCm39)		probably null	Het
Dmkn	T	TAGAGGTGGAAGTGGTGGAAGTGGTGGA	7: 30,466,632 (GRCm39)		probably benign	Het
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,602,078 (GRCm39)		probably benign	Het
Fam171b	C	CAGCAGA	2: 83,643,240 (GRCm39)		probably benign	Het
Garin5a	CTGAGGGAGGA	CTGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTATGAGGGAGGA	7: 44,149,951 (GRCm39)		probably null	Het
Gm10181	GAGAGAGAGAGAGA	G	9: 25,000,761 (GRCm39)		probably null	Het
Gm16494	TTT	TTTT	17: 47,327,841 (GRCm39)		probably null	Het
Hsdl2	CCACAGCTGCAG	CCACAGCTGCAGCAGCAGCACAGCTGCAG	4: 59,610,647 (GRCm39)		probably null	Het
Med12l	CAG	CAGAAG	3: 59,183,414 (GRCm39)		probably benign	Het
Nelfe	A	AGCGGGATCGAGACAGAGACAAAGG	17: 35,073,047 (GRCm39)		probably benign	Het
Ngfr	CAGG	C	11: 95,478,337 (GRCm39)		probably benign	Het
Nusap1	GTTAGCAGTGAGGAGCAAGCTGAGA	GTTAGCAGTGAGGAGCAAGCTGAGATACACTTTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,067 (GRCm39)		probably benign	Het
Nusap1	TACACGTTAGCAGTGAGGAGCAAGCTGAGAC	TACACGTTAGCAGTGAGGAGCAAGCTGAGACACACGTTAGCAGTGAGGAGCAAGCTGAGAC	2: 119,458,062 (GRCm39)		probably benign	Het
Nusap1	CAGTGAGGAGCAAGCTGAGA	CAGTGAGGAGCAAGCTGAGATACACGTTAGGAGTGAGGAGCAAGCTGAGA	2: 119,458,072 (GRCm39)		probably benign	Het
Or10n7-ps1	A	ATAGG	9: 39,598,050 (GRCm39)		probably null	Het
Pdik1l	TTGCACC	TTGCACCTGCACC	4: 134,006,813 (GRCm39)		probably benign	Het
Pdik1l	C	CCACCAA	4: 134,006,827 (GRCm39)		probably benign	Het
Pqbp1	ACACACACACACC	A	X: 7,764,998 (GRCm39)		probably benign	Het
Rbm28	AGCAACACCTCTCACCTGGGGCAGAAGCA	AGCAACACCTCTCACCTGGGGCAGAAGCAACACCTCTCACCTGGGGCAGAAGCA	6: 29,157,052 (GRCm39)		probably null	Het
Rnf126	GAGGAC	G	10: 79,594,976 (GRCm39)		probably null	Het
Rprd2	CAGAGCCTGTGGTGCTCGCAGG	C	3: 95,673,631 (GRCm39)		probably benign	Het
Rtbdn	CGG	CGGAAGAGG	8: 85,682,799 (GRCm39)		probably benign	Het
Rtbdn	GCAGCG	GCAGCGCCAGCG	8: 85,682,801 (GRCm39)		probably benign	Het
Sbp	ACAAAGATGCTGACA	ACAAAGATGCTGACAGCAAAGATGCTGACA	17: 24,164,340 (GRCm39)		probably benign	Het
Setd1a	GTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	GTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,384,475 (GRCm39)		probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,500 (GRCm39)		probably benign	Het
Sh3pxd2b	CCTGTG	CCTGTGGCTGTG	11: 32,373,055 (GRCm39)		probably benign	Het
Taf1a	CACGTTGAAGCTGTAGGTAAGTGAGACAGCGTTGAAGCTGTAGGTAAGTGAGACA	CGCGTTGAAGCTGTAGGTAAGTGAGACA	1: 183,172,369 (GRCm39)		probably benign	Het
Tcof1	TCCCCTTGGC	TCCCCTTGGCTGCTGAGATGGGCACTTTCCTAGAGACCCCCTTGGC	18: 60,966,647 (GRCm39)		probably benign	Het
Tsen2	CCAG	CCAGCAG	6: 115,537,025 (GRCm39)		probably benign	Het
Unc13b	CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CAGAGCCAGAGCCAGAGCAAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,359 (GRCm39)		probably benign	Het
Zfp384	CCCAGGC	CCCAGGCCCAGGGCCAGGC	6: 125,013,453 (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
RF059:Cyb5r4	UTSW	9	86,922,498 (GRCm39)	small insertion	probably benign
RF060:Cyb5r4	UTSW	9	86,922,466 (GRCm39)	small insertion	probably benign
RF061:Cyb5r4	UTSW	9	86,922,488 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CACTGGGAGAGAGTAAGCTTTTG -3'
(R):5'- AAATGAGGTACTGCAGTTCGTG -3'

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

Posted On

2019-12-04