Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01833:Cyb5r4'

154865

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01833

Quality Score

Status

Chromosome

Chromosomal Location

86904082-86959827 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 86941505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126119 (fasta)

Gene Model

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

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,188,062 (GRCm39)	N190S	probably benign	Het
Adamts18	T	A	8: 114,469,728 (GRCm39)	Y658F	probably benign	Het
Camsap3	T	A	8: 3,658,508 (GRCm39)	L1151Q	probably damaging	Het
Casp14	T	A	10: 78,551,237 (GRCm39)	Y16F	probably damaging	Het
Clip2	A	T	5: 134,526,938 (GRCm39)		probably benign	Het
Clip4	G	A	17: 72,134,785 (GRCm39)		probably benign	Het
Ep400	A	T	5: 110,827,874 (GRCm39)	N2329K	unknown	Het
Fam163a	T	A	1: 155,955,742 (GRCm39)	I17F	probably damaging	Het
Galnt1	T	A	18: 24,400,617 (GRCm39)	I241N	probably damaging	Het
Galnt14	T	G	17: 73,811,899 (GRCm39)	I441L	probably benign	Het
Gpr45	T	C	1: 43,071,402 (GRCm39)	L15P	probably benign	Het
Hivep1	A	T	13: 42,308,464 (GRCm39)	K235*	probably null	Het
Kcnip2	T	C	19: 45,782,746 (GRCm39)		probably null	Het
Kpna3	T	C	14: 61,607,894 (GRCm39)	N437S	possibly damaging	Het
Lmtk2	A	T	5: 144,112,753 (GRCm39)	R1158*	probably null	Het
Lpo	A	G	11: 87,698,159 (GRCm39)	V612A	possibly damaging	Het
Myh15	T	C	16: 48,934,421 (GRCm39)	C663R	probably damaging	Het
Nacad	G	A	11: 6,555,700 (GRCm39)	R17C	unknown	Het
Or7a35	A	T	10: 78,853,770 (GRCm39)	M205L	probably benign	Het
Pcsk2	A	G	2: 143,529,500 (GRCm39)	Q99R	possibly damaging	Het
Pkd1l2	T	C	8: 117,787,264 (GRCm39)	N593S	probably benign	Het
Plce1	G	A	19: 38,709,425 (GRCm39)	S1093N	probably damaging	Het
Prxl2b	G	T	4: 154,981,059 (GRCm39)		probably benign	Het
Rhpn2	T	A	7: 35,075,596 (GRCm39)	Y258N	probably benign	Het
Serpinb9d	T	C	13: 33,384,688 (GRCm39)	Y222H	probably damaging	Het
Shprh	T	C	10: 11,066,806 (GRCm39)	L1401P	probably damaging	Het
Slc5a7	A	G	17: 54,588,861 (GRCm39)	L262P	probably damaging	Het
Stat2	T	G	10: 128,117,045 (GRCm39)	F293V	probably benign	Het
Stpg4	T	A	17: 87,702,585 (GRCm39)		probably null	Het
Styk1	G	T	6: 131,279,329 (GRCm39)		probably benign	Het
Sult2a2	T	A	7: 13,468,721 (GRCm39)	D62E	probably damaging	Het
Sytl2	G	A	7: 90,045,745 (GRCm39)	V632M	probably damaging	Het
Themis	C	T	10: 28,658,307 (GRCm39)	Q445*	probably null	Het
Tmem225	A	T	9: 40,059,725 (GRCm39)	E35V	probably damaging	Het
Vmn1r48	T	A	6: 90,013,265 (GRCm39)	T187S	probably damaging	Het
Xpnpep1	A	G	19: 52,988,824 (GRCm39)	Y463H	probably damaging	Het

Other mutations in Cyb5r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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	86,922,478 (GRCm39)	small insertion	probably benign
RF006:Cyb5r4	UTSW	9	86,922,494 (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
RF061:Cyb5r4	UTSW	9	86,922,488 (GRCm39)	small insertion	probably benign

Posted On

2014-02-04