Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02358:Cyb5r3'

290377

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 #

IGL02358

Quality Score

Status

Chromosome

Chromosomal Location

83037695-83056793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83045136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 94 (T94A)

Ref Sequence

ENSEMBL: ENSMUSP00000125636 (fasta)

Gene Model

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

AlphaFold

Q9DCN2

Predicted Effect

probably benign
Transcript: ENSMUST00000018186
AA Change: T117A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000018186
Gene: ENSMUSG00000018042
AA Change: T117A

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: T94A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000125636
Gene: ENSMUSG00000018042
AA Change: T94A

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: T94A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000124062
Gene: ENSMUSG00000018042
AA Change: T94A

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,474,418 (GRCm39)	T448A	possibly damaging	Het
Adamtsl1	T	A	4: 86,075,110 (GRCm39)		probably null	Het
Adgra3	A	G	5: 50,215,900 (GRCm39)	V73A	probably benign	Het
Adgre4	G	A	17: 56,150,209 (GRCm39)	R600Q	probably benign	Het
Aggf1	T	C	13: 95,489,358 (GRCm39)		probably benign	Het
Aktip	C	T	8: 91,853,520 (GRCm39)	V96I	possibly damaging	Het
Atm	A	G	9: 53,433,476 (GRCm39)	I258T	probably benign	Het
Baz1b	C	T	5: 135,273,160 (GRCm39)	T1428I	probably damaging	Het
C3ar1	A	T	6: 122,826,934 (GRCm39)	Y428N	probably damaging	Het
Cadps	A	G	14: 12,597,380 (GRCm38)	S437P	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cenpq	A	G	17: 41,235,223 (GRCm39)	L213P	probably damaging	Het
Cept1	A	G	3: 106,446,504 (GRCm39)		probably null	Het
Cln6	A	G	9: 62,754,407 (GRCm39)	I150V	probably benign	Het
Cyp2c67	A	G	19: 39,605,861 (GRCm39)	M345T	probably damaging	Het
Dapk2	T	A	9: 66,153,805 (GRCm39)	I187N	probably damaging	Het
Dkk2	A	G	3: 131,883,673 (GRCm39)	D191G	probably benign	Het
Dnah8	T	A	17: 30,986,785 (GRCm39)	F3145I	probably damaging	Het
Dock1	A	C	7: 134,710,548 (GRCm39)	D1190A	possibly damaging	Het
Ehhadh	T	A	16: 21,581,620 (GRCm39)	L457F	probably damaging	Het
Ercc6l2	T	C	13: 64,001,497 (GRCm39)	L552P	probably damaging	Het
Ghrhr	T	G	6: 55,361,138 (GRCm39)	I284S	probably damaging	Het
Gm10288	A	T	3: 146,544,954 (GRCm39)		noncoding transcript	Het
Gp6	T	G	7: 4,397,507 (GRCm39)	I19L	probably benign	Het
Gria4	G	A	9: 4,456,206 (GRCm39)	S698L	possibly damaging	Het
Ifng	A	T	10: 118,278,410 (GRCm39)	I53F	possibly damaging	Het
Kazn	A	C	4: 141,874,327 (GRCm39)		probably null	Het
Khk	A	T	5: 31,085,848 (GRCm39)	I136F	probably damaging	Het
Krtap9-3	T	A	11: 99,488,885 (GRCm39)		probably benign	Het
Lnx1	T	A	5: 74,788,027 (GRCm39)	N98Y	probably damaging	Het
Lsp1	T	C	7: 142,042,679 (GRCm39)		probably null	Het
Lta4h	A	T	10: 93,314,329 (GRCm39)	N467I	probably benign	Het
Mcmbp	C	A	7: 128,311,505 (GRCm39)		probably null	Het
Me2	A	T	18: 73,931,038 (GRCm39)	I85K	probably benign	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Nadsyn1	A	T	7: 143,353,649 (GRCm39)	Y525N	probably damaging	Het
Nt5e	G	A	9: 88,209,946 (GRCm39)	V70M	probably damaging	Het
Or52e4	G	A	7: 104,706,182 (GRCm39)	G243D	probably damaging	Het
Or8b36	A	T	9: 37,937,332 (GRCm39)	I77L	possibly damaging	Het
Or9k7	T	G	10: 130,046,603 (GRCm39)	Y132S	probably damaging	Het
Pkd1l3	A	G	8: 110,373,129 (GRCm39)		probably benign	Het
Ppm1d	A	T	11: 85,236,541 (GRCm39)	E440V	probably damaging	Het
Pramel32	A	T	4: 88,546,127 (GRCm39)	I405N	probably damaging	Het
Ripor2	A	T	13: 24,915,572 (GRCm39)	E1047D	probably damaging	Het
Rwdd2b	G	A	16: 87,234,336 (GRCm39)	A18V	probably benign	Het
Serpina5	G	T	12: 104,068,384 (GRCm39)	K148N	probably damaging	Het
Setx	A	G	2: 29,036,976 (GRCm39)	K1154E	probably benign	Het
Spata31	T	A	13: 65,069,032 (GRCm39)	N393K	probably benign	Het
Spcs2	T	C	7: 99,498,241 (GRCm39)	K81R	probably damaging	Het
Stt3b	T	A	9: 115,079,975 (GRCm39)	M646L	possibly damaging	Het
Suco	T	C	1: 161,646,195 (GRCm39)	T1169A	probably benign	Het
Susd1	A	T	4: 59,427,985 (GRCm39)	Y66*	probably null	Het
Trim34a	T	A	7: 103,910,441 (GRCm39)	C414*	probably null	Het
Trim58	G	A	11: 58,542,176 (GRCm39)	G379S	probably damaging	Het
Vmn2r50	T	A	7: 9,787,002 (GRCm39)	Q35L	probably benign	Het
Zc3hc1	C	A	6: 30,376,057 (GRCm39)	G168W	probably benign	Het
Zfp418	T	C	7: 7,177,690 (GRCm39)		probably benign	Het
Zfp57	G	A	17: 37,320,919 (GRCm39)	V258I	probably benign	Het
Zng1	A	T	19: 24,909,026 (GRCm39)		probably null	Het

Other mutations in Cyb5r3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Cyb5r3	APN	15	83,044,605 (GRCm39)	missense	probably benign
IGL02351: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

2015-04-16