Mutagenetix > Incidental Mutation

Incidental Mutation 'RF059:Cyb5r4'

605357

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 #

RF059 (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)

GGGA to GGGATGTGACAGACACACTGCCCAAGGA at 86922498 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: 99.7%
3x: 99.6%
10x: 99.2%
20x: 98.2%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	CTGTGGCTG	CTGTGGCTGGTGTGGCTG	1: 82,891,300 (GRCm39)		probably benign	Het
AY761185	CTGTGGGCACTT	CT	8: 21,433,930 (GRCm39)		probably null	Het
Cherp	GACCTGGA	G	8: 73,215,899 (GRCm39)		probably null	Het
Cpox	C	T	16: 58,491,130 (GRCm39)	R114C	probably benign	Het
Dnmt1	ACCTCGTT	ACCTCGTTTTGGGGGCGGAGCACAGTTCCTCCCTCGTT	9: 20,821,434 (GRCm39)		probably benign	Het
Dnmt1	CCTCGTT	CCTCGTTTTGGGGGCGGAGCACAGTTCCTATCTCGTT	9: 20,821,435 (GRCm39)		probably null	Het
Gab3	TCT	TCTGCT	X: 74,043,596 (GRCm39)		probably benign	Het
Gabre	TC	TCTGGCAC	X: 71,314,370 (GRCm39)		probably benign	Het
Hsdl2	G	GCAGCAGCCACAGCTGCAA	4: 59,610,658 (GRCm39)		probably benign	Het
Klra2	GAAAGAAATCCA	GAAAGAAATCCAAAGAAATCCA	6: 131,198,801 (GRCm39)		probably null	Het
Kmt2c	CCTTCT	CCT	5: 25,518,477 (GRCm39)		probably benign	Het
Krtap28-10	CCACAGCCACCACAG	CCACAGCCACCACAGACACAGCCACCACAG	1: 83,019,996 (GRCm39)		probably benign	Het
Krtap28-10	C	CCACAGCCACCACAGA	1: 83,020,011 (GRCm39)		probably benign	Het
Lca5l	TGGCCCTGGCCCCGGCCC	TGGCCC	16: 95,960,501 (GRCm39)		probably benign	Het
Lce1m	GCTGCTGCCACCGCTGCTGCCACCGCTGCTGCCACAGCAACTGCTGCCACCGCTGCTGCCAC	GCTGCTGCCACCGCTGCTGCCAC	3: 92,925,636 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCGGC	X: 70,162,438 (GRCm39)		probably benign	Het
Mcph1	CTCT	CTCTTCT	8: 18,702,541 (GRCm39)		probably benign	Het
Sbp	GACAACAAAGATG	GACAACAAAGATGCTTACAACAAAGATG	17: 24,164,351 (GRCm39)		probably benign	Het
Sprr2b	ATGCTGTGAGCCTTGTCCTCCTCCAAAGTGC	ATGC	3: 92,224,875 (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
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'- CACTGGGAGAGAGTAAGCTTTTGG -3'
(R):5'- GCCTCTGCATCTGATAAATGAGG -3'

Sequencing Primer
(F):5'- AAAATGCTGGTGACAAGGGTTTCTC -3'
(R):5'- CTGCATCTGATAAATGAGGTACTGC -3'

Posted On

2019-12-04