Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00334:Cyb5r3'

4062

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cyb5r3

Ensembl Gene

ENSMUSG00000018042

Gene Name

cytochrome b5 reductase 3

Synonyms

Dia1, Dia-1, 0610016L08Rik, 2500002N19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00334

Quality Score

Status

Chromosome

Chromosomal Location

83037695-83056793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83044605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 138 (A138S)

Ref Sequence

ENSEMBL: ENSMUSP00000124062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018186] [ENSMUST00000162178] [ENSMUST00000162834]

AlphaFold

Q9DCN2

Predicted Effect

probably benign
Transcript: ENSMUST00000018186
AA Change: A161S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018186
Gene: ENSMUSG00000018042
AA Change: A161S

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_6	44	151	7.1e-35	PFAM
Pfam:NAD_binding_6	172	262	3.2e-7	PFAM
Pfam:NAD_binding_1	177	285	1.1e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162178
AA Change: A138S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125636
Gene: ENSMUSG00000018042
AA Change: A138S

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_6	21	128	6.3e-38	PFAM
Pfam:NAD_binding_6	149	240	5.9e-8	PFAM
Pfam:NAD_binding_1	154	242	4.5e-24	PFAM
low complexity region	290	303	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162834
AA Change: A138S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124062
Gene: ENSMUSG00000018042
AA Change: A138S

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_6	21	128	2.1e-36	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsb	T	G	13: 94,075,787 (GRCm39)	H423Q	probably benign	Het
Bltp2	T	A	11: 78,160,400 (GRCm39)	L620I	possibly damaging	Het
Ces1f	T	C	8: 93,994,620 (GRCm39)	T264A	probably benign	Het
Clcn6	C	A	4: 148,102,359 (GRCm39)		probably null	Het
Cyp3a57	A	T	5: 145,307,834 (GRCm39)	N197Y	probably damaging	Het
Dctn2	A	G	10: 127,113,559 (GRCm39)		probably benign	Het
Dnmt1	C	T	9: 20,821,566 (GRCm39)	A1197T	possibly damaging	Het
Dock2	T	C	11: 34,595,488 (GRCm39)	D436G	probably damaging	Het
Drd4	A	G	7: 140,872,096 (GRCm39)	N49S	probably damaging	Het
Dst	T	A	1: 34,205,373 (GRCm39)	V521D	probably damaging	Het
Eif5b	T	C	1: 38,080,800 (GRCm39)	S714P	probably damaging	Het
Glis3	A	G	19: 28,517,664 (GRCm39)	I178T	probably damaging	Het
Gm11565	T	A	11: 99,806,021 (GRCm39)	C138S	possibly damaging	Het
H1f8	T	A	6: 115,924,588 (GRCm39)		probably benign	Het
Hdx	T	A	X: 110,492,578 (GRCm39)	I623F	probably benign	Het
Huwe1	T	G	X: 150,668,623 (GRCm39)	L843V	probably damaging	Het
Hyal2	T	C	9: 107,447,604 (GRCm39)	Y86H	probably damaging	Het
Irf7	A	T	7: 140,844,553 (GRCm39)	S157T	probably benign	Het
Jmjd4	T	A	11: 59,346,140 (GRCm39)	M331K	probably damaging	Het
Kdm2a	A	T	19: 4,406,926 (GRCm39)	D112E	possibly damaging	Het
Mamdc2	A	C	19: 23,356,138 (GRCm39)	Y103*	probably null	Het
Map2k3	T	C	11: 60,834,041 (GRCm39)	V77A	possibly damaging	Het
Mideas	G	A	12: 84,219,629 (GRCm39)	R442*	probably null	Het
Mprip	T	A	11: 59,639,417 (GRCm39)	D403E	probably benign	Het
Mutyh	T	A	4: 116,676,516 (GRCm39)	V496D	possibly damaging	Het
Nbeal1	T	C	1: 60,321,042 (GRCm39)	V2051A	probably damaging	Het
Nbeal1	T	C	1: 60,367,262 (GRCm39)	L2575P	probably damaging	Het
Or10j5	T	G	1: 172,785,158 (GRCm39)	S265R	possibly damaging	Het
Or51a6	T	C	7: 102,604,311 (GRCm39)	K173E	probably benign	Het
Pcdhb6	T	A	18: 37,467,277 (GRCm39)	I66N	probably damaging	Het
Pck2	T	C	14: 55,780,098 (GRCm39)	Y89H	probably benign	Het
Poglut3	T	A	9: 53,309,330 (GRCm39)		probably benign	Het
Poglut3	C	A	9: 53,309,328 (GRCm39)		probably benign	Het
Polr3e	C	T	7: 120,540,034 (GRCm39)	Q594*	probably null	Het
Ptpro	T	G	6: 137,371,907 (GRCm39)		probably null	Het
Rfx4	A	G	10: 84,615,917 (GRCm39)	K28E	possibly damaging	Het
Shox2	T	C	3: 66,888,774 (GRCm39)	E39G	possibly damaging	Het
Slc22a16	A	T	10: 40,449,930 (GRCm39)	D122V	probably benign	Het
Smr3a	A	C	5: 88,155,919 (GRCm39)		probably benign	Het
Spmip8	G	A	8: 96,039,676 (GRCm39)	R31H	probably damaging	Het
Taf4	G	T	2: 179,618,418 (GRCm39)	L8M	unknown	Het
Tbkbp1	T	A	11: 97,028,474 (GRCm39)		probably benign	Het
Tmem120b	G	T	5: 123,253,230 (GRCm39)	E210D	probably damaging	Het
Tmem120b	A	T	5: 123,253,229 (GRCm39)		probably null	Het
Trim21	C	T	7: 102,208,805 (GRCm39)	V305M	probably damaging	Het
Ube4a	A	T	9: 44,859,439 (GRCm39)	L353Q	probably damaging	Het
Zfyve1	A	T	12: 83,621,572 (GRCm39)	N274K	probably benign	Het

Other mutations in Cyb5r3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02351:Cyb5r3	APN	15	83,045,136 (GRCm39)	missense	probably benign	0.04
IGL02358:Cyb5r3	APN	15	83,045,136 (GRCm39)	missense	probably benign	0.04
IGL02666:Cyb5r3	APN	15	83,044,554 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Cyb5r3	UTSW	15	83,046,064 (GRCm39)	missense	probably damaging	1.00
R0063:Cyb5r3	UTSW	15	83,046,137 (GRCm39)	missense	probably benign	0.00
R0063:Cyb5r3	UTSW	15	83,046,137 (GRCm39)	missense	probably benign	0.00
R0368:Cyb5r3	UTSW	15	83,042,993 (GRCm39)	missense	probably benign	0.01
R3976:Cyb5r3	UTSW	15	83,044,330 (GRCm39)	missense	possibly damaging	0.58
R4953:Cyb5r3	UTSW	15	83,042,822 (GRCm39)	nonsense	probably null
R5249:Cyb5r3	UTSW	15	83,042,836 (GRCm39)	intron	probably benign
R5665:Cyb5r3	UTSW	15	83,038,755 (GRCm39)	missense	probably damaging	1.00
R6251:Cyb5r3	UTSW	15	83,038,917 (GRCm39)	missense	probably benign	0.10
R6368:Cyb5r3	UTSW	15	83,044,325 (GRCm39)	missense	possibly damaging	0.59
R7255:Cyb5r3	UTSW	15	83,044,366 (GRCm39)	missense	probably damaging	1.00
R9559:Cyb5r3	UTSW	15	83,043,123 (GRCm39)	nonsense	probably null

Posted On

2012-04-20