Mutagenetix > Incidental Mutation

Incidental Mutation 'R3976:Cyb5r3'

312661

Institutional Source

Beutler Lab

Gene Symbol

Cyb5r3

Ensembl Gene

ENSMUSG00000018042

Gene Name

cytochrome b5 reductase 3

Synonyms

Dia1, Dia-1, 0610016L08Rik, 2500002N19Rik

MMRRC Submission

040842-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3976 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83037695-83056793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83044330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 180 (V180A)

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: V203A

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000018186
Gene: ENSMUSG00000018042
AA Change: V203A

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

possibly damaging
Transcript: ENSMUST00000162178
AA Change: V180A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125636
Gene: ENSMUSG00000018042
AA Change: V180A

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: V180A

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124062
Gene: ENSMUSG00000018042
AA Change: V180A

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

Meta Mutation Damage Score

0.0934

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,039,615 (GRCm39)	D466G	probably benign	Het
Asb4	A	T	6: 5,390,771 (GRCm39)	M55L	probably benign	Het
Atxn7l1	T	C	12: 33,375,954 (GRCm39)	S10P	probably damaging	Het
Bola3	T	C	6: 83,328,249 (GRCm39)	L45P	probably benign	Het
Cacna2d4	A	G	6: 119,255,134 (GRCm39)		probably null	Het
Cfap54	A	G	10: 92,675,333 (GRCm39)	S2863P	possibly damaging	Het
Dglucy	A	T	12: 100,807,648 (GRCm39)	T186S	probably benign	Het
Eml5	A	T	12: 98,768,724 (GRCm39)		probably benign	Het
Fam90a1a	G	A	8: 22,451,432 (GRCm39)	D98N	probably damaging	Het
Fbxo16	T	A	14: 65,524,606 (GRCm39)	L42Q	probably damaging	Het
Fbxw16	A	G	9: 109,268,697 (GRCm39)	V231A	probably benign	Het
Fermt3	G	A	19: 6,979,792 (GRCm39)	A447V	possibly damaging	Het
Fignl2	A	G	15: 100,950,467 (GRCm39)	L605P	unknown	Het
Gcsam	T	G	16: 45,440,192 (GRCm39)	N78K	probably damaging	Het
Gdf2	T	A	14: 33,666,791 (GRCm39)	V171D	probably damaging	Het
Gm28042	C	T	2: 119,867,237 (GRCm39)	H218Y	probably benign	Het
Herpud2	A	G	9: 25,021,734 (GRCm39)	V304A	probably damaging	Het
Kcnma1	C	T	14: 24,053,815 (GRCm39)		probably null	Het
Lrp3	T	C	7: 34,903,530 (GRCm39)	D251G	probably benign	Het
Mapkbp1	T	C	2: 119,852,339 (GRCm39)	V957A	possibly damaging	Het
Mepe	C	T	5: 104,484,944 (GRCm39)	P28L	probably benign	Het
Muc2	T	A	7: 141,300,541 (GRCm39)		probably benign	Het
Nt5dc2	T	C	14: 30,860,832 (GRCm39)	S439P	probably damaging	Het
Opn4	C	T	14: 34,319,066 (GRCm39)	R173H	probably benign	Het
Or2k2	A	G	4: 58,785,164 (GRCm39)	L186P	probably damaging	Het
Or4f14	C	T	2: 111,742,951 (GRCm39)	G108D	possibly damaging	Het
Phf8-ps	A	T	17: 33,285,405 (GRCm39)	S466T	probably benign	Het
Ppp1r12a	T	C	10: 108,089,341 (GRCm39)	V660A	probably benign	Het
Prdm6	T	C	18: 53,673,278 (GRCm39)	I186T	possibly damaging	Het
Rab18	T	A	18: 6,778,529 (GRCm39)	D53E	probably benign	Het
Rel	A	G	11: 23,692,939 (GRCm39)	S365P	probably benign	Het
Rhbg	C	A	3: 88,151,843 (GRCm39)	G383V	probably damaging	Het
Rnps1-ps	A	T	6: 7,983,149 (GRCm39)		noncoding transcript	Het
Rp1l1	T	A	14: 64,267,758 (GRCm39)	Y1115N	probably damaging	Het
Runx2	T	C	17: 44,920,966 (GRCm39)	T339A	possibly damaging	Het
Ryr3	T	C	2: 112,506,182 (GRCm39)	E3455G	possibly damaging	Het
Serpina1d	A	T	12: 103,734,107 (GRCm39)	S66T	probably benign	Het
Setd3	T	C	12: 108,131,417 (GRCm39)	K3R	possibly damaging	Het
Spg7	A	G	8: 123,806,187 (GRCm39)	D299G	probably damaging	Het
Sptbn5	C	T	2: 119,878,742 (GRCm39)		noncoding transcript	Het
Srcap	A	G	7: 127,148,411 (GRCm39)	T1859A	probably benign	Het
Suox	A	G	10: 128,506,906 (GRCm39)	V374A	probably damaging	Het
Tesk1	C	T	4: 43,445,786 (GRCm39)	P280S	possibly damaging	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Tubal3	C	T	13: 3,982,946 (GRCm39)	S242L	probably benign	Het
Ugt2b1	C	A	5: 87,065,534 (GRCm39)	V502L	probably benign	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
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'- TGTACCAAAGTCCCCAATCTGC -3'
(R):5'- CGGTGAAGTCTGTAGGCATG -3'

Sequencing Primer
(F):5'- TGAAAGGCTGCCCCAAGTG -3'
(R):5'- TTGGAACCCTGACGGAGC -3'

Posted On

2015-04-30