Mutagenetix > Incidental Mutation

Incidental Mutation 'RF006:Cyb5r4'

602831

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 #

RF006 (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)

TGTGACAGACACACTGCCCAGGGAAG to TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG at 87040425 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: 98.5%

Validation Efficiency

97% (36/37)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	T	9: 92,352,649	I146F	possibly damaging	Het
4930548H24Rik	C	T	5: 31,487,550	Q216*	probably null	Het
Acbd7	GTT	GT	2: 3,340,699		probably null	Het
Acp7	A	T	7: 28,614,779	N330K	possibly damaging	Het
Adam25	A	T	8: 40,755,797	H700L	probably benign	Het
Alg9	GGGTGG	GGGTGGTGG	9: 50,775,417		probably benign	Het
Atp8b3	A	T	10: 80,526,236	V689E	probably benign	Het
Atxn2l	A	G	7: 126,495,891	V533A	probably benign	Het
C87414	A	T	5: 93,636,703	C301S	probably benign	Het
Catsperb	G	A	12: 101,575,979		probably null	Het
Ccdc13	T	C	9: 121,814,207	K376R	probably damaging	Het
Ccdc170	C	CCAA	10: 4,561,030		probably benign	Het
Cdh9	G	C	15: 16,855,830	R652P	probably damaging	Het
Cenpf	A	C	1: 189,657,386	C1416W	probably damaging	Het
Chga	GCA	GCATCA	12: 102,561,412		probably benign	Het
Dennd3	T	C	15: 73,547,592	I744T	probably damaging	Het
Dnah1	C	T	14: 31,307,875	R491Q	probably benign	Het
Eif4a2	A	T	16: 23,110,278	M188L	possibly damaging	Het
Esf1	CTCCTCTTC	CTC	2: 140,164,374		probably benign	Het
Fat3	T	C	9: 15,998,617	I2030V	probably benign	Het
Gab3	CTT	CTTTTT	X: 75,000,027		probably benign	Het
Gins4	A	T	8: 23,227,167	V195E	possibly damaging	Het
Gm17402	TCCTCCTCC	TCCTCCTCCCCCTCCTCC	3: 67,365,559		probably benign	Het
Gm17604	CTCTCTTTC	CTC	X: 165,003,818		probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,511,764		probably benign	Het
Gnpnat1	T	A	14: 45,383,443		probably null	Het
Inpp4a	A	C	1: 37,388,827	N651T	possibly damaging	Het
Ireb2	T	C	9: 54,881,484	F81L	possibly damaging	Het
Kcnh3	T	A	15: 99,239,928		probably null	Het
Kmt2b	CTCCTC	CTCCTCATCCTC	7: 30,586,377		probably benign	Het
Kmt2c	TG	TGCTGTGG	5: 25,315,772		probably benign	Het
Myt1	T	C	2: 181,797,773	S405P	probably damaging	Het
Net1	T	C	13: 3,887,406	T245A	probably benign	Het
Nkx2-1	T	C	12: 56,533,547	T203A	probably damaging	Het
Oas3	T	C	5: 120,774,100	E75G	probably damaging	Het
Pappa	T	A	4: 65,323,873	D1491E	probably benign	Het
Pkhd1l1	C	A	15: 44,503,238	T704K	probably benign	Het
Pkhd1l1	TT	TTTTTTTTTGT	15: 44,558,507		probably benign	Het
Ppp1r8	TCTCTCAC	TC	4: 132,830,617		probably benign	Het
Ppp2r3c	T	A	12: 55,293,815	I157F	probably benign	Het
Rspo4	C	T	2: 151,867,877		probably null	Het
Rtn4	T	C	11: 29,706,919	S358P	possibly damaging	Het
Siglecg	T	A	7: 43,408,864	Y58*	probably null	Het
Slc4a1	C	T	11: 102,356,716		probably null	Het
Slc9b1	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	3: 135,357,542		probably benign	Het
Smc2	T	A	4: 52,442,276	D64E	probably benign	Het
Spaca1	CTCGC	CTCGCTATCGC	4: 34,049,853		probably benign	Het
Srrm2	A	G	17: 23,812,588	S236G	unknown	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Strn	TGCTCCCTTACCCCAGTC	TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC	17: 78,677,271		probably null	Het
Tfeb	CAG	CAGGAG	17: 47,786,113		probably benign	Het
Tktl2	A	T	8: 66,512,852	E354V	probably benign	Het
Tpte	A	G	8: 22,306,943	T94A	probably benign	Het
Usp40	A	C	1: 87,967,195	S868A	possibly damaging	Het
Vmn2r24	G	A	6: 123,806,419	C526Y	probably damaging	Het
Vmn2r58	CAAAATGATGTAGCACTT	C	7: 41,836,959		probably null	Het

Other mutations in Cyb5r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01833:Cyb5r4	APN	9	87059452	critical splice donor site	probably null
cello	UTSW	9	87029538	nonsense	probably null
viol	UTSW	9	87059077	critical splice donor site	probably null
PIT1430001:Cyb5r4	UTSW	9	87038738	missense	probably benign
R0040:Cyb5r4	UTSW	9	87066742	splice site	probably null
R0373:Cyb5r4	UTSW	9	87027040	missense	probably damaging	0.99
R0755:Cyb5r4	UTSW	9	87029572	missense	probably damaging	1.00
R1381:Cyb5r4	UTSW	9	87022233	missense	probably benign	0.03
R1488:Cyb5r4	UTSW	9	87029538	nonsense	probably null
R1510:Cyb5r4	UTSW	9	87066643	intron	probably benign
R1856:Cyb5r4	UTSW	9	87022209	missense	possibly damaging	0.61
R1857:Cyb5r4	UTSW	9	87041279	missense	probably benign	0.00
R1858:Cyb5r4	UTSW	9	87041279	missense	probably benign	0.00
R1870:Cyb5r4	UTSW	9	87040409	missense	probably benign	0.00
R1876:Cyb5r4	UTSW	9	87055814	missense	probably damaging	1.00
R1959:Cyb5r4	UTSW	9	87055849	missense	possibly damaging	0.82
R2036:Cyb5r4	UTSW	9	87042879	splice site	probably benign
R2895:Cyb5r4	UTSW	9	87040399	nonsense	probably null
R4226:Cyb5r4	UTSW	9	87057229	missense	probably damaging	0.99
R4655:Cyb5r4	UTSW	9	87059429	missense	probably benign	0.01
R4971:Cyb5r4	UTSW	9	87057171	missense	possibly damaging	0.80
R5038:Cyb5r4	UTSW	9	87059077	critical splice donor site	probably null
R5155:Cyb5r4	UTSW	9	87040403	missense	probably benign	0.08
R5187:Cyb5r4	UTSW	9	87026948	missense	possibly damaging	0.92
R5654:Cyb5r4	UTSW	9	87047480	missense	probably damaging	0.98
R5659:Cyb5r4	UTSW	9	87055828	missense	probably benign	0.22
R5926:Cyb5r4	UTSW	9	87057261	missense	probably benign	0.04
R6083:Cyb5r4	UTSW	9	87057168	missense	probably damaging	1.00
R6610:Cyb5r4	UTSW	9	87059417	missense	probably benign
R7311:Cyb5r4	UTSW	9	87055782	missense	probably damaging	1.00
R7662:Cyb5r4	UTSW	9	87027038	missense	possibly damaging	0.83
R7748:Cyb5r4	UTSW	9	87032381	missense	probably damaging	1.00
R8171:Cyb5r4	UTSW	9	87042810	missense	possibly damaging	0.81
R8253:Cyb5r4	UTSW	9	87059055	missense	probably damaging	1.00
R8369:Cyb5r4	UTSW	9	87040433	missense	probably benign	0.00
R8816:Cyb5r4	UTSW	9	87022233	missense	probably benign	0.31
RF001:Cyb5r4	UTSW	9	87040416	small insertion	probably benign
RF006:Cyb5r4	UTSW	9	87040441	small insertion	probably benign
RF013:Cyb5r4	UTSW	9	87040432	small insertion	probably benign
RF014:Cyb5r4	UTSW	9	87040415	small insertion	probably benign
RF015:Cyb5r4	UTSW	9	87040432	small insertion	probably benign
RF015:Cyb5r4	UTSW	9	87040438	small insertion	probably benign
RF016:Cyb5r4	UTSW	9	87040425	small insertion	probably benign
RF016:Cyb5r4	UTSW	9	87040441	small insertion	probably benign
RF016:Cyb5r4	UTSW	9	87040444	small insertion	probably benign
RF024:Cyb5r4	UTSW	9	87040435	small insertion	probably benign
RF025:Cyb5r4	UTSW	9	87040444	small insertion	probably benign
RF026:Cyb5r4	UTSW	9	87040433	small insertion	probably benign
RF027:Cyb5r4	UTSW	9	87040431	small insertion	probably benign
RF029:Cyb5r4	UTSW	9	87040430	small insertion	probably benign
RF029:Cyb5r4	UTSW	9	87040442	small insertion	probably benign
RF030:Cyb5r4	UTSW	9	87040409	small insertion	probably benign
RF030:Cyb5r4	UTSW	9	87040415	small insertion	probably benign
RF031:Cyb5r4	UTSW	9	87040445	small insertion	probably benign
RF032:Cyb5r4	UTSW	9	87040413	small insertion	probably benign
RF034:Cyb5r4	UTSW	9	87040417	small insertion	probably benign
RF034:Cyb5r4	UTSW	9	87040447	nonsense	probably null
RF036:Cyb5r4	UTSW	9	87040430	small insertion	probably benign
RF038:Cyb5r4	UTSW	9	87040442	small insertion	probably benign
RF040:Cyb5r4	UTSW	9	87040409	small insertion	probably benign
RF043:Cyb5r4	UTSW	9	87040411	small insertion	probably benign
RF043:Cyb5r4	UTSW	9	87040431	small insertion	probably benign
RF045:Cyb5r4	UTSW	9	87040402	nonsense	probably null
RF045:Cyb5r4	UTSW	9	87040447	small insertion	probably benign
RF052:Cyb5r4	UTSW	9	87040422	small insertion	probably benign
RF053:Cyb5r4	UTSW	9	87040422	small insertion	probably benign
RF055:Cyb5r4	UTSW	9	87040414	small insertion	probably benign
RF055:Cyb5r4	UTSW	9	87040438	small insertion	probably benign
RF056:Cyb5r4	UTSW	9	87040410	small insertion	probably benign
RF059:Cyb5r4	UTSW	9	87040445	small insertion	probably benign
RF060:Cyb5r4	UTSW	9	87040413	small insertion	probably benign
RF061:Cyb5r4	UTSW	9	87040435	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CTACCACTGGGAGAGAGTAAGC -3'
(R):5'- ATGAGGTACTGCAGTTCGTG -3'

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

Posted On

2019-12-04