Mutagenetix > Incidental Mutation

Incidental Mutation 'R9559:Cyb5r3'

720934

Institutional Source

Beutler Lab

Gene Symbol

Cyb5r3

Ensembl Gene

ENSMUSG00000018042

Gene Name

cytochrome b5 reductase 3

Synonyms

Dia1, Dia-1, 0610016L08Rik, 2500002N19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9559 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83037695-83056793 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 83043123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 190 (E190*)

Ref Sequence

ENSEMBL: ENSMUSP00000125636 (fasta)

Gene Model

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

AlphaFold

Q9DCN2

Predicted Effect

probably null
Transcript: ENSMUST00000018186
AA Change: E213*

SMART Domains

Protein: ENSMUSP00000018186
Gene: ENSMUSG00000018042
AA Change: E213*

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 null
Transcript: ENSMUST00000162178
AA Change: E190*

SMART Domains

Protein: ENSMUSP00000125636
Gene: ENSMUSG00000018042
AA Change: E190*

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 null
Transcript: ENSMUST00000162834
AA Change: E190*

SMART Domains

Protein: ENSMUSP00000124062
Gene: ENSMUSG00000018042
AA Change: E190*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,021,019 (GRCm39)		probably null	Het
Ahnak2	C	T	12: 112,749,782 (GRCm39)		probably null	Het
Arhgef37	A	T	18: 61,640,267 (GRCm39)		probably null	Het
Asb14	T	C	14: 26,637,052 (GRCm39)	V598A	possibly damaging	Het
Baz1b	T	A	5: 135,216,532 (GRCm39)	F10Y	probably benign	Het
Bbc3	T	C	7: 16,047,660 (GRCm39)	V128A	probably benign	Het
C130073F10Rik	T	A	4: 101,747,946 (GRCm39)	Y76F	possibly damaging	Het
Cdc42bpa	G	A	1: 179,939,459 (GRCm39)		probably null	Het
Cfh	G	T	1: 140,030,275 (GRCm39)	P884Q	probably benign	Het
Cltc	T	C	11: 86,613,086 (GRCm39)	Y479C	probably damaging	Het
Col18a1	C	T	10: 76,913,630 (GRCm39)	G477E	probably damaging	Het
Col7a1	A	G	9: 108,786,360 (GRCm39)	N530S	unknown	Het
Csmd2	G	T	4: 128,438,561 (GRCm39)	G3047C		Het
Dnah3	A	T	7: 119,650,951 (GRCm39)	V983D	probably benign	Het
Fcer1a	T	G	1: 173,052,884 (GRCm39)	Y104S	possibly damaging	Het
Fer1l6	A	G	15: 58,429,759 (GRCm39)	T169A	possibly damaging	Het
Gimap9	A	T	6: 48,655,134 (GRCm39)	K240N	probably benign	Het
Gmeb1	A	C	4: 131,953,140 (GRCm39)	V542G	probably benign	Het
Grb10	C	A	11: 11,895,535 (GRCm39)	R318L	probably damaging	Het
Gucy1b1	T	A	3: 81,947,054 (GRCm39)	D385V	possibly damaging	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Il18r1	T	A	1: 40,528,793 (GRCm39)	I279K	probably benign	Het
Il21r	A	G	7: 125,232,027 (GRCm39)	D485G	probably damaging	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Kdm4b	T	C	17: 56,693,228 (GRCm39)	L355P	probably damaging	Het
Kif26a	C	T	12: 112,142,004 (GRCm39)	R753W	probably damaging	Het
Krtcap2	C	T	3: 89,154,178 (GRCm39)	T33I	probably damaging	Het
Mettl17	G	A	14: 52,129,009 (GRCm39)		probably null	Het
Mov10	A	G	3: 104,708,277 (GRCm39)	F491L		Het
Mterf1a	C	T	5: 3,941,807 (GRCm39)	W20*	probably null	Het
Nck2	T	C	1: 43,593,207 (GRCm39)	V138A	probably damaging	Het
Or2h2c	C	T	17: 37,422,509 (GRCm39)	V122M	possibly damaging	Het
Or5ac24	C	A	16: 59,165,368 (GRCm39)	G232V	probably damaging	Het
Or5ak24	A	C	2: 85,260,753 (GRCm39)	V140G	possibly damaging	Het
Or7e173	A	G	9: 19,939,216 (GRCm39)	V6A	probably benign	Het
Osmr	A	G	15: 6,882,027 (GRCm39)	V39A	probably damaging	Het
Plekhh2	A	G	17: 84,899,017 (GRCm39)	H998R	probably damaging	Het
Prb1a	G	A	6: 132,184,388 (GRCm39)	S415F	unknown	Het
Prl3d1	C	T	13: 27,280,470 (GRCm39)	T73I	probably benign	Het
Scgn	A	G	13: 24,137,921 (GRCm39)	L250P	probably damaging	Het
Scyl3	T	C	1: 163,779,773 (GRCm39)	I580T	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Shank2	A	T	7: 143,585,041 (GRCm39)	Q14L	probably benign	Het
Slc22a12	T	A	19: 6,587,686 (GRCm39)	N423Y	probably damaging	Het
Tenm4	T	A	7: 96,473,056 (GRCm39)	S951T	probably benign	Het
Ubash3b	G	A	9: 40,954,926 (GRCm39)	P195S	probably damaging	Het
Vmn1r61	A	G	7: 5,613,498 (GRCm39)	F272S	probably damaging	Het
Zbtb41	A	T	1: 139,358,053 (GRCm39)	I454F	probably benign	Het
Zfp112	G	T	7: 23,826,108 (GRCm39)	C696F	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TTGATTCCTCCACAGCCATG -3'
(R):5'- AGGTCTGTTTATAGGAGCCTGC -3'

Sequencing Primer
(F):5'- CATGAGCAGGCCACGAG -3'
(R):5'- GCTTTAAGGAGCTCTGTAGACATG -3'

Posted On

2022-08-09