Mutagenetix > Incidental Mutation

Incidental Mutation 'RF034:Cyb5r4'

604497

Institutional Source

Beutler Lab

Gene Symbol

Cyb5r4

Ensembl Gene

ENSMUSG00000032872

Gene Name

cytochrome b5 reductase 4

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF034 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

87022014-87077774 bp(+) (GRCm38)

Type of Mutation

small insertion (8 aa in frame mutation)

DNA Base Change (assembly)

CCCAGGGATGTGACAGACACACTG to CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG at 87040417 bp (GRCm38)

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: 99.4%
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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	TTATTATGATTATTAC	3: 37,050,760 (GRCm38)		probably benign	Het
A030005L19Rik	TGTGGCTGC	TGTGGCTGCGGTGGCTGC	1: 82,913,580 (GRCm38)		probably benign	Het
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTACATCCTGGGCTGCT	4: 155,905,092 (GRCm38)		probably benign	Het
Alpk3	GAGAAGGCAC	G	7: 81,092,414 (GRCm38)		probably benign	Het
Cox7a2l	GGA	GGATGGGGA	17: 83,502,722 (GRCm38)		probably benign	Het
Cpne1	TCCAC	TC	2: 156,073,510 (GRCm38)		probably benign	Het
Defb22	TGCGGCA	TGCGGCAGGGCTGGCCTTTGCGGCA	2: 152,485,832 (GRCm38)		probably benign	Het
Dnmt1	GGGCGGAGCACAGTTCCTACCTCGTT	GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT	9: 20,910,120 (GRCm38)		probably null	Het
Fam71e1	GGGTCTGAGGGAGGA	GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA	7: 44,500,523 (GRCm38)		probably null	Het
Fbrsl1	GTG	GTGCGTGTGCTGTTG	5: 110,378,149 (GRCm38)		probably benign	Het
Frem3	GATC	GATCATC	8: 80,615,238 (GRCm38)		probably benign	Het
Gabre	GCTC	GCTCTGTCTC	X: 72,270,762 (GRCm38)		probably benign	Het
Gm15155	CAA	CAACAACAAA	X: 156,345,640 (GRCm38)		probably null	Het
Igf1r	GGAGATGGAGC	GGAGATGGAGCTAGAGATGGAGC	7: 68,226,176 (GRCm38)		probably benign	Het
Krtap28-10	CACCACAGC	CACCACAGCCACAGCGACCACAGC	1: 83,042,282 (GRCm38)		probably benign	Het
Mamld1	AGC	AGCGGC	X: 71,118,835 (GRCm38)		probably benign	Het
Map1a	CCAGCTCCAGCTCCA	CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA	2: 121,306,304 (GRCm38)		probably benign	Het
Map1a	GCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA	2: 121,306,307 (GRCm38)		probably benign	Het
Neu1	TCTTCTA	T	17: 34,932,558 (GRCm38)		probably benign	Het
Nolc1	CAGCAGC	CAGCAGCAGAAGCAGC	19: 46,081,371 (GRCm38)		probably benign	Het
Olfr850	G	T	9: 19,477,632 (GRCm38)	A206E	possibly damaging	Het
Pdik1l	TTTT	TTTTGTTTTTGGTTT	4: 134,279,374 (GRCm38)		probably null	Het
Rassf6	CACTCATGGTCCTGTAGAGCAATGGGGATTC	CACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTGACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,912 (GRCm38)		probably benign	Het
Rassf6	ATGGTCCTGTAGAGCAATGGGGATTC	ATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTCGTGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,917 (GRCm38)		probably benign	Het
Rassf6	CTGTAGAGCAATGGGGATTC	CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC	5: 90,608,923 (GRCm38)		probably benign	Het
Rpgrip1	AGAGGAGGA	AGA	14: 52,149,526 (GRCm38)		probably benign	Het
Rprd2	AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC	AGAGGCTGTGGTGCTC	3: 95,766,320 (GRCm38)		probably benign	Het
Rsf1	CG	CGAGG	7: 97,579,908 (GRCm38)		probably benign	Het
Rtbdn	GCGGC	GCGGCATCGGC	8: 84,956,175 (GRCm38)		probably benign	Het
Smarca2	CA	CACCAAGA	19: 26,631,011 (GRCm38)		probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,097 (GRCm38)		probably benign	Het
Tfeb	CAG	CAGTAG	17: 47,786,098 (GRCm38)		probably null	Het
Tmed6	AGC	AGCTGGC	8: 107,061,596 (GRCm38)		probably null	Het
Tomm5	TCTTCCGC	TCTTCCGCAGCTTCCGC	4: 45,107,976 (GRCm38)		probably benign	Het
Trappc9	TG	TGATGCTGCTGCTGCGG	15: 72,801,298 (GRCm38)		probably benign	Het

Other mutations in Cyb5r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01833:Cyb5r4	APN	9	87,059,452 (GRCm38)	critical splice donor site	probably null
cello	UTSW	9	87,029,538 (GRCm38)	nonsense	probably null
viol	UTSW	9	87,059,077 (GRCm38)	critical splice donor site	probably null
PIT1430001:Cyb5r4	UTSW	9	87,038,738 (GRCm38)	missense	probably benign
R0040:Cyb5r4	UTSW	9	87,066,742 (GRCm38)	splice site	probably null
R0373:Cyb5r4	UTSW	9	87,027,040 (GRCm38)	missense	probably damaging	0.99
R0755:Cyb5r4	UTSW	9	87,029,572 (GRCm38)	missense	probably damaging	1.00
R1381:Cyb5r4	UTSW	9	87,022,233 (GRCm38)	missense	probably benign	0.03
R1488:Cyb5r4	UTSW	9	87,029,538 (GRCm38)	nonsense	probably null
R1510:Cyb5r4	UTSW	9	87,066,643 (GRCm38)	intron	probably benign
R1856:Cyb5r4	UTSW	9	87,022,209 (GRCm38)	missense	possibly damaging	0.61
R1857:Cyb5r4	UTSW	9	87,041,279 (GRCm38)	missense	probably benign	0.00
R1858:Cyb5r4	UTSW	9	87,041,279 (GRCm38)	missense	probably benign	0.00
R1870:Cyb5r4	UTSW	9	87,040,409 (GRCm38)	missense	probably benign	0.00
R1876:Cyb5r4	UTSW	9	87,055,814 (GRCm38)	missense	probably damaging	1.00
R1959:Cyb5r4	UTSW	9	87,055,849 (GRCm38)	missense	possibly damaging	0.82
R2036:Cyb5r4	UTSW	9	87,042,879 (GRCm38)	splice site	probably benign
R2895:Cyb5r4	UTSW	9	87,040,399 (GRCm38)	nonsense	probably null
R4226:Cyb5r4	UTSW	9	87,057,229 (GRCm38)	missense	probably damaging	0.99
R4655:Cyb5r4	UTSW	9	87,059,429 (GRCm38)	missense	probably benign	0.01
R4971:Cyb5r4	UTSW	9	87,057,171 (GRCm38)	missense	possibly damaging	0.80
R5038:Cyb5r4	UTSW	9	87,059,077 (GRCm38)	critical splice donor site	probably null
R5155:Cyb5r4	UTSW	9	87,040,403 (GRCm38)	missense	probably benign	0.08
R5187:Cyb5r4	UTSW	9	87,026,948 (GRCm38)	missense	possibly damaging	0.92
R5654:Cyb5r4	UTSW	9	87,047,480 (GRCm38)	missense	probably damaging	0.98
R5659:Cyb5r4	UTSW	9	87,055,828 (GRCm38)	missense	probably benign	0.22
R5926:Cyb5r4	UTSW	9	87,057,261 (GRCm38)	missense	probably benign	0.04
R6083:Cyb5r4	UTSW	9	87,057,168 (GRCm38)	missense	probably damaging	1.00
R6610:Cyb5r4	UTSW	9	87,059,417 (GRCm38)	missense	probably benign
R7311:Cyb5r4	UTSW	9	87,055,782 (GRCm38)	missense	probably damaging	1.00
R7662:Cyb5r4	UTSW	9	87,027,038 (GRCm38)	missense	possibly damaging	0.83
R7748:Cyb5r4	UTSW	9	87,032,381 (GRCm38)	missense	probably damaging	1.00
R8171:Cyb5r4	UTSW	9	87,042,810 (GRCm38)	missense	possibly damaging	0.81
R8253:Cyb5r4	UTSW	9	87,059,055 (GRCm38)	missense	probably damaging	1.00
R8369:Cyb5r4	UTSW	9	87,040,433 (GRCm38)	missense	probably benign	0.00
R8816:Cyb5r4	UTSW	9	87,022,233 (GRCm38)	missense	probably benign	0.31
RF001:Cyb5r4	UTSW	9	87,040,416 (GRCm38)	small insertion	probably benign
RF006:Cyb5r4	UTSW	9	87,040,441 (GRCm38)	small insertion	probably benign
RF006:Cyb5r4	UTSW	9	87,040,425 (GRCm38)	small insertion	probably benign
RF013:Cyb5r4	UTSW	9	87,040,432 (GRCm38)	small insertion	probably benign
RF014:Cyb5r4	UTSW	9	87,040,415 (GRCm38)	small insertion	probably benign
RF015:Cyb5r4	UTSW	9	87,040,438 (GRCm38)	small insertion	probably benign
RF015:Cyb5r4	UTSW	9	87,040,432 (GRCm38)	small insertion	probably benign
RF016:Cyb5r4	UTSW	9	87,040,444 (GRCm38)	small insertion	probably benign
RF016:Cyb5r4	UTSW	9	87,040,441 (GRCm38)	small insertion	probably benign
RF016:Cyb5r4	UTSW	9	87,040,425 (GRCm38)	small insertion	probably benign
RF024:Cyb5r4	UTSW	9	87,040,435 (GRCm38)	small insertion	probably benign
RF025:Cyb5r4	UTSW	9	87,040,444 (GRCm38)	small insertion	probably benign
RF026:Cyb5r4	UTSW	9	87,040,433 (GRCm38)	small insertion	probably benign
RF027:Cyb5r4	UTSW	9	87,040,431 (GRCm38)	small insertion	probably benign
RF029:Cyb5r4	UTSW	9	87,040,442 (GRCm38)	small insertion	probably benign
RF029:Cyb5r4	UTSW	9	87,040,430 (GRCm38)	small insertion	probably benign
RF030:Cyb5r4	UTSW	9	87,040,415 (GRCm38)	small insertion	probably benign
RF030:Cyb5r4	UTSW	9	87,040,409 (GRCm38)	small insertion	probably benign
RF031:Cyb5r4	UTSW	9	87,040,445 (GRCm38)	small insertion	probably benign
RF032:Cyb5r4	UTSW	9	87,040,413 (GRCm38)	small insertion	probably benign
RF034:Cyb5r4	UTSW	9	87,040,447 (GRCm38)	nonsense	probably null
RF036:Cyb5r4	UTSW	9	87,040,430 (GRCm38)	small insertion	probably benign
RF038:Cyb5r4	UTSW	9	87,040,442 (GRCm38)	small insertion	probably benign
RF040:Cyb5r4	UTSW	9	87,040,409 (GRCm38)	small insertion	probably benign
RF043:Cyb5r4	UTSW	9	87,040,431 (GRCm38)	small insertion	probably benign
RF043:Cyb5r4	UTSW	9	87,040,411 (GRCm38)	small insertion	probably benign
RF045:Cyb5r4	UTSW	9	87,040,447 (GRCm38)	small insertion	probably benign
RF045:Cyb5r4	UTSW	9	87,040,402 (GRCm38)	nonsense	probably null
RF052:Cyb5r4	UTSW	9	87,040,422 (GRCm38)	small insertion	probably benign
RF053:Cyb5r4	UTSW	9	87,040,422 (GRCm38)	small insertion	probably benign
RF055:Cyb5r4	UTSW	9	87,040,438 (GRCm38)	small insertion	probably benign
RF055:Cyb5r4	UTSW	9	87,040,414 (GRCm38)	small insertion	probably benign
RF056:Cyb5r4	UTSW	9	87,040,410 (GRCm38)	small insertion	probably benign
RF059:Cyb5r4	UTSW	9	87,040,445 (GRCm38)	small insertion	probably benign
RF060:Cyb5r4	UTSW	9	87,040,413 (GRCm38)	small insertion	probably benign
RF061:Cyb5r4	UTSW	9	87,040,435 (GRCm38)	small insertion	probably benign

Predicted Primers

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

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

Posted On

2019-12-04