Mutagenetix > Incidental Mutation

Incidental Mutation 'R0063:Cyb5r3'

43810

Institutional Source

Beutler Lab

Gene Symbol

Cyb5r3

Ensembl Gene

ENSMUSG00000018042

Gene Name

cytochrome b5 reductase 3

Synonyms

Dia1, Dia-1, 0610016L08Rik, 2500002N19Rik

MMRRC Submission

038355-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0063 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83037695-83056793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83046137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 60 (T60A)

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: T83A

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

SMART Domains

Protein: ENSMUSP00000018186
Gene: ENSMUSG00000018042
AA Change: T83A

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: T60A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125636
Gene: ENSMUSG00000018042
AA Change: T60A

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: T60A

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

SMART Domains

Protein: ENSMUSP00000124062
Gene: ENSMUSG00000018042
AA Change: T60A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	C	T	16: 4,678,912 (GRCm39)	R245*	probably null	Het
4930563I02Rik	T	A	14: 60,333,477 (GRCm39)		probably benign	Het
Acss1	T	C	2: 150,469,212 (GRCm39)	T435A	probably damaging	Het
Aoc2	T	A	11: 101,216,897 (GRCm39)	S327T	probably damaging	Het
Arid5a	T	A	1: 36,357,645 (GRCm39)	Y252N	probably damaging	Het
AU040320	T	C	4: 126,733,465 (GRCm39)	Y662H	probably damaging	Het
B4gat1	T	A	19: 5,089,735 (GRCm39)	L244*	probably null	Het
Bcam	C	T	7: 19,500,773 (GRCm39)	V134I	probably benign	Het
Btbd16	A	T	7: 130,424,896 (GRCm39)	T426S	probably benign	Het
Btn1a1	C	T	13: 23,649,267 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,791,508 (GRCm39)		probably benign	Het
Capn8	T	A	1: 182,429,677 (GRCm39)	D299E	probably damaging	Het
Cdipt	G	A	7: 126,578,772 (GRCm39)	V160I	probably benign	Het
Cep164	A	G	9: 45,679,916 (GRCm39)	S1267P	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Col3a1	T	C	1: 45,369,701 (GRCm39)		probably benign	Het
Dgkb	T	G	12: 38,654,112 (GRCm39)	S744A	probably benign	Het
Dock2	T	A	11: 34,647,111 (GRCm39)		probably null	Het
Ece1	C	T	4: 137,675,892 (GRCm39)	T422M	probably benign	Het
Ece2	A	G	16: 20,461,067 (GRCm39)	T442A	probably benign	Het
Elapor2	T	C	5: 9,490,709 (GRCm39)		probably benign	Het
Eml3	C	A	19: 8,915,842 (GRCm39)	A644D	probably damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Foxp1	A	G	6: 98,921,684 (GRCm39)		probably benign	Het
Gm10801	G	T	2: 98,494,185 (GRCm39)	S109I	probably benign	Het
Il17rd	G	A	14: 26,804,690 (GRCm39)	C88Y	probably damaging	Het
Il17rd	C	A	14: 26,804,691 (GRCm39)	C88*	probably null	Het
Ino80c	A	G	18: 24,239,681 (GRCm39)	F160S	probably damaging	Het
Ints8	T	C	4: 11,252,857 (GRCm39)	N75S	probably damaging	Het
Irf2bp1	C	T	7: 18,739,772 (GRCm39)	R471C	possibly damaging	Het
Irs1	T	A	1: 82,266,580 (GRCm39)	E545D	probably damaging	Het
Lama3	T	C	18: 12,661,762 (GRCm39)		probably benign	Het
Mast4	C	A	13: 103,470,723 (GRCm39)		probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Nat8f2	A	T	6: 85,844,815 (GRCm39)	S182R	possibly damaging	Het
Nrcam	G	T	12: 44,596,811 (GRCm39)	V343F	possibly damaging	Het
Opn5	T	C	17: 42,907,517 (GRCm39)	S120G	probably damaging	Het
Pdk2	T	C	11: 94,923,306 (GRCm39)	H106R	probably benign	Het
Pkhd1	G	A	1: 20,282,174 (GRCm39)	T2889I	probably benign	Het
Pkhd1l1	T	A	15: 44,392,633 (GRCm39)	L1656H	probably damaging	Het
Plxna2	A	T	1: 194,327,247 (GRCm39)	T394S	probably benign	Het
Pnpla8	T	A	12: 44,329,615 (GRCm39)	C56S	probably damaging	Het
Prdm8	G	T	5: 98,332,453 (GRCm39)	R118L	probably damaging	Het
Prkce	T	C	17: 86,789,539 (GRCm39)		probably benign	Het
Ptprk	T	A	10: 28,139,763 (GRCm39)	Y163N	probably damaging	Het
Rbbp8	T	A	18: 11,867,614 (GRCm39)		probably benign	Het
Rnh1	A	T	7: 140,744,109 (GRCm39)		probably null	Het
Rtn4	T	A	11: 29,655,527 (GRCm39)		probably benign	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Slc2a2	T	C	3: 28,771,589 (GRCm39)	M173T	probably damaging	Het
Slc2a8	T	A	2: 32,870,011 (GRCm39)		probably null	Het
Tdpoz1	A	T	3: 93,578,121 (GRCm39)	M221K	probably benign	Het
Tgm7	G	T	2: 120,924,577 (GRCm39)	H533Q	probably benign	Het
Timm29	C	A	9: 21,504,304 (GRCm39)	A17E	probably benign	Het
Tmem131	C	T	1: 36,858,209 (GRCm39)	V713I	probably benign	Het
Tmem89	A	G	9: 108,743,880 (GRCm39)	N60S	probably benign	Het
Tpx2	A	G	2: 152,722,043 (GRCm39)	T212A	probably damaging	Het
Trio	G	T	15: 27,881,523 (GRCm39)		probably benign	Het
Tulp2	T	C	7: 45,170,284 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,244,542 (GRCm39)		probably benign	Het
Vmn2r5	T	A	3: 64,411,221 (GRCm39)	E449V	probably benign	Het
Vwa8	A	G	14: 79,401,656 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,339,427 (GRCm39)	D556G	probably damaging	Het
Xrn1	T	C	9: 95,851,588 (GRCm39)	L202P	probably damaging	Het
Zfp354a	A	T	11: 50,960,398 (GRCm39)	H203L	probably damaging	Het
Zfp53	A	C	17: 21,728,367 (GRCm39)	R133S	probably benign	Het
Zfp787	C	T	7: 6,135,322 (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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAAGCCCTCCTAGAAGACTTCTCC -3'
(R):5'- GTGTAGATACCCATGCCAAGGTGC -3'

Sequencing Primer
(F):5'- TCATCACCTGGTCCACAGC -3'
(R):5'- CACTGGGAGTCCCTCATGATATAG -3'

Posted On

2013-05-29