Mutagenetix > Incidental Mutation

Incidental Mutation 'RF061:Cyb5r4'

605413

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 #

RF061 (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)

ACACTGCCCAGGGA to ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA at 86922488 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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	ACTT	ACTTACTT	8: 125,566,570 (GRCm39)		probably null	Het
Abi3bp	GCCCACGACCC	GCCCACGACCCACGACCC	16: 56,447,950 (GRCm39)		probably null	Het
Ankhd1	GGCGGC	GGCGGCCGCGGC	18: 36,693,974 (GRCm39)		probably benign	Het
Ankrd24	GAGGC	GAGGCGGAGGCATAGGC	10: 81,479,401 (GRCm39)		probably null	Het
Bpifb4	A	ACCTCCAC	2: 153,799,048 (GRCm39)		probably benign	Het
Chga	CAG	CAGAAG	12: 102,527,672 (GRCm39)		probably benign	Het
Chga	G	GCAC	12: 102,527,686 (GRCm39)		probably benign	Het
Dnmt1	CAGTTCCTACCTCGTT	CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT	9: 20,821,426 (GRCm39)		probably null	Het
Fbrsl1	GTGCTGGTGCGT	GTGCTGGTGCGTCTGCTGGTGCGT	5: 110,525,997 (GRCm39)		probably benign	Het
Gabre	GCTCCG	GCTCCGACTCCG	X: 71,313,654 (GRCm39)		probably benign	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCTG	4: 59,610,657 (GRCm39)		probably benign	Het
Il2	GGG	GGGGCTTGAAGTGGG	3: 37,179,990 (GRCm39)		probably benign	Het
Krtap28-10	CCACCACAGC	CCACCACAGCCACAGACACCACAGC	1: 83,020,002 (GRCm39)		probably benign	Het
Lrch1	GCTGGTGGT	G	14: 75,184,995 (GRCm39)		probably null	Het
Lrch1	GGTGGTGTTG	GG	14: 75,185,007 (GRCm39)		probably null	Het
Mamld1	AGC	AGCCGC	X: 70,162,456 (GRCm39)		probably benign	Het
Map1a	TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC	TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCCGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC	2: 121,136,768 (GRCm39)		probably benign	Het
Or10n7-ps1	GA	GATATA	9: 39,598,049 (GRCm39)		probably null	Het
Pdcd11	AGGAGGAGG	AG	19: 47,101,884 (GRCm39)		probably null	Het
Pknox2	ACACACACACACACACTCAC	ACAC	9: 36,820,905 (GRCm39)		probably benign	Het
Rfx5	A	T	3: 94,863,070 (GRCm39)	K54I	probably damaging	Het
Rps19	AAAAAAT	AAAAAATAAAAAT	7: 24,588,605 (GRCm39)		probably benign	Het
Rragd	CATGCCTTTCATTCTA	C	4: 32,995,150 (GRCm39)		probably benign	Het
Sbp	GACAACA	GACAACACAGATGCTAACAACA	17: 24,164,351 (GRCm39)		probably benign	Het
Stab2	CTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	10: 86,702,622 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGGAG	17: 48,097,017 (GRCm39)		probably benign	Het
Trim33	GGCCCCCGC	GGC	3: 103,187,533 (GRCm39)		probably benign	Het
Zfp598	ACAACCAC	ACAACCACAACCAC	17: 24,899,744 (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
RF060:Cyb5r4	UTSW	9	86,922,466 (GRCm39)	small insertion	probably benign

Predicted Primers

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

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

Posted On

2019-12-04