Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Cyb5r4'

262073

Institutional Source

Beutler Lab

Gene Symbol

Cyb5r4

Ensembl Gene

ENSMUSG00000032872

Gene Name

cytochrome b5 reductase 4

Synonyms

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

MMRRC Submission

038334-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0040 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

87022014-87077774 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 87066742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168529] [ENSMUST00000174294]

AlphaFold

Q3TDX8

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174043

Predicted Effect

probably benign
Transcript: ENSMUST00000174294

SMART Domains

Protein: ENSMUSP00000133918
Gene: ENSMUSG00000032872

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_6	16	89	8.7e-8	PFAM
Pfam:NAD_binding_1	21	88	1.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174724

SMART Domains

Protein: ENSMUSP00000133556
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	4.2e-16	PFAM
Pfam:FAD_binding_6	284	391	1.7e-22	PFAM
Pfam:NAD_binding_1	402	509	3.9e-17	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.6%

Validation Efficiency

100% (88/88)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahrr	G	A	13: 74,283,024		probably benign	Het
Antxr2	G	A	5: 97,938,425	T441I	possibly damaging	Het
Apcs	A	G	1: 172,894,456	Y108H	probably benign	Het
Atad5	A	G	11: 80,098,014	T666A	probably benign	Het
Atcay	C	T	10: 81,210,519		probably null	Het
Bahcc1	A	G	11: 120,268,370	D141G	probably damaging	Het
Ceacam10	A	G	7: 24,778,264	Y68C	probably damaging	Het
Cfap54	T	A	10: 92,977,039	Q1344L	probably benign	Het
Cyp2b9	G	T	7: 26,173,474	S14I	possibly damaging	Het
Dusp12	A	G	1: 170,880,657	Y164H	probably damaging	Het
Eml2	T	C	7: 19,196,614	V373A	possibly damaging	Het
Fat1	A	G	8: 45,026,404	D2829G	probably damaging	Het
Fbxl13	T	C	5: 21,486,373	T671A	probably damaging	Het
Fbxo28	G	T	1: 182,326,240		probably benign	Het
Fbxo44	A	G	4: 148,158,695	L89P	probably damaging	Het
Fndc3b	T	A	3: 27,556,117		probably null	Het
Gm884	G	A	11: 103,542,990	P942S	probably damaging	Het
Gm9955	G	T	18: 24,709,152		probably benign	Het
Gprc6a	T	A	10: 51,614,984	K819*	probably null	Het
Gxylt1	A	T	15: 93,254,555		probably benign	Het
Hspa12a	T	C	19: 58,799,624	T589A	probably benign	Het
Idh2	A	G	7: 80,097,822	S317P	probably damaging	Het
Ifi30	T	C	8: 70,763,776		probably null	Het
Ifna16	G	A	4: 88,676,630	A76V	probably benign	Het
Itpr2	C	T	6: 146,345,140	E1127K	probably damaging	Het
Kank4	A	G	4: 98,779,220	V330A	probably benign	Het
Kpna1	T	A	16: 36,023,241	D328E	probably damaging	Het
Krt71	T	A	15: 101,738,433	H280L	possibly damaging	Het
Mapt	A	G	11: 104,305,398	M446V	probably damaging	Het
Med1	C	T	11: 98,166,255		probably null	Het
Mif	T	A	10: 75,859,780	H63L	probably damaging	Het
Mycbp2	A	G	14: 103,224,272	V1447A	probably benign	Het
Myo1b	A	T	1: 51,781,989	I451N	probably damaging	Het
Nme2	A	T	11: 93,951,930		probably null	Het
Nubp1	A	G	16: 10,421,117	T199A	probably damaging	Het
Nup210l	T	A	3: 90,181,905	V1165D	probably damaging	Het
Nup98	T	A	7: 102,192,034	T122S	probably damaging	Het
Olfr1106	C	T	2: 87,049,204	E11K	probably damaging	Het
Olfr304	A	T	7: 86,386,507	L51Q	probably benign	Het
Olfr354	T	C	2: 36,907,458	F171L	probably damaging	Het
Olfr771	T	A	10: 129,160,739	I82L	probably benign	Het
Pard3b	A	T	1: 62,637,820	Y1170F	probably damaging	Het
Pear1	T	C	3: 87,754,358	D536G	probably damaging	Het
Phrf1	G	T	7: 141,243,857	R196L	probably damaging	Het
Plxna2	G	T	1: 194,643,896	R46L	probably benign	Het
Rbm39	G	A	2: 156,148,179	T496I	possibly damaging	Het
Rpl14	C	G	9: 120,572,101	F3L	possibly damaging	Het
Rtf2	G	A	2: 172,444,696	S40N	probably damaging	Het
Runx2	G	A	17: 44,608,254	S481L	possibly damaging	Het
Sh3rf1	T	A	8: 61,329,252	Y143N	possibly damaging	Het
Siglec15	G	A	18: 78,048,877		probably benign	Het
Slc4a8	T	A	15: 100,789,846	I288N	probably damaging	Het
Ttc38	C	A	15: 85,841,489	F184L	probably damaging	Het
Vmn1r28	T	C	6: 58,265,894	Y241H	probably damaging	Het
Vmn2r110	A	T	17: 20,596,084	V59D	probably benign	Het
Wdpcp	A	G	11: 21,711,638	I303M	probably damaging	Het
Zc3h12d	G	A	10: 7,867,914	A483T	probably benign	Het
Zfp106	C	A	2: 120,531,613	K1008N	probably damaging	Het
Zfp334	A	G	2: 165,381,572	Y184H	probably benign	Het
Zfp68	G	A	5: 138,607,779	T94I	probably benign	Het
Zkscan3	A	T	13: 21,394,920		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
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	87040425	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

Posted On

2015-02-04