Mutagenetix > Incidental Mutation

Incidental Mutation 'RF032:Cyb5r4'

604418

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 #

RF032 (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)

ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA to ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA at 87040413 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: 99.3%
20x: 98.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	TACCT	TACCTGACCT	17: 24,287,727 (GRCm38)		probably null	Het
Acap3	CTGCTG	CTGCTGCATCCTGGGATGCTG	4: 155,905,102 (GRCm38)		probably benign	Het
Arid1b	GCG	GCGTCG	17: 4,995,588 (GRCm38)		probably benign	Het
Blm	CTCC	CTCCTCCTCCTCGTCC	7: 80,512,930 (GRCm38)		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,620,063 (GRCm38)		probably null	Het
Calhm1	C	CTGTGGCCGTGG	19: 47,141,283 (GRCm38)		probably null	Het
Cluh	CCCGAGCC	CCCGAGCCCGAGCC	11: 74,669,515 (GRCm38)		probably benign	Het
Dmkn	GT	GTTGTGAAAGTGGTGGAAGTGGTGGAATT	7: 30,767,182 (GRCm38)		probably benign	Het
Efhd2	CGCC	CGCCGCAGCC	4: 141,874,772 (GRCm38)		probably benign	Het
Enah	TGGCGGTGG	TG	1: 181,921,929 (GRCm38)		probably null	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,778 (GRCm38)		probably benign	Het
H2-T10	TTTCCCACTGTA	T	17: 36,120,294 (GRCm38)		probably null	Het
Ifi207	GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC	GCCTGAGCTGTGGAAGTCTC	1: 173,735,157 (GRCm38)		probably benign	Het
Igf1r	GATGGAGC	GATGGAGCTGGATATGGAGC	7: 68,226,179 (GRCm38)		probably benign	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,042,258 (GRCm38)		probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,640,489 (GRCm38)		probably null	Het
Med12l	CAG	CAGAAG	3: 59,275,981 (GRCm38)		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,275,985 (GRCm38)		probably benign	Het
Med12l	GCA	GCACCA	3: 59,275,989 (GRCm38)		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,711 (GRCm38)		probably benign	Het
Nf2	AAAAG	A	11: 4,829,936 (GRCm38)		probably null	Het
Nusap1	TTAGCAGTGAGGAGCAAGCTGAGA	TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA	2: 119,627,587 (GRCm38)		probably benign	Het
Olfr418	GTGACATC	G	1: 173,270,709 (GRCm38)		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972 (GRCm38)		probably benign	Het
Pik3c2g	G	GGAGA	6: 139,635,658 (GRCm38)		probably null	Het
Pou3f1	GGCGGCCG	GGCGGCCGCGGCCG	4: 124,657,805 (GRCm38)		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939 (GRCm38)		probably benign	Het
Reep1	CC	CCCGAC	6: 71,707,968 (GRCm38)		probably null	Het
Slc12a1	ACAAACC	ACAAACCTTTGGCCACCAAACC	2: 125,154,210 (GRCm38)		probably benign	Het
Smpx	CCCCCCA	C	X: 157,720,923 (GRCm38)		probably benign	Het
Spaca1	TCGC	TCGCTCACGC	4: 34,049,854 (GRCm38)		probably benign	Het
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,727,666 (GRCm38)		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGGCTTGCCAGAAG	6: 72,616,074 (GRCm38)		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,616,063 (GRCm38)		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	15: 78,967,036 (GRCm38)		probably benign	Het
Vat1l	C	T	8: 114,289,329 (GRCm38)	L320F	probably damaging	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 108,956,092 (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
RF034:Cyb5r4	UTSW	9	87,040,447 (GRCm38)	nonsense	probably null
RF034:Cyb5r4	UTSW	9	87,040,417 (GRCm38)	small insertion	probably benign
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'- CACTGGGAGAGAGTAAGCTTTTGG -3'
(R):5'- ATGAGGTACTGCAGTTCGTG -3'

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

Posted On

2019-12-04