Mutagenetix > Incidental Mutation

Incidental Mutation 'R9587:Cyb5r1'

722816

Institutional Source

Beutler Lab

Gene Symbol

Cyb5r1

Ensembl Gene

ENSMUSG00000026456

Gene Name

cytochrome b5 reductase 1

Synonyms

1500005G05Rik, Nqo3a2, B5R.1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R9587 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134333519-134339476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134335387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 141 (G141R)

Ref Sequence

ENSEMBL: ENSMUSP00000027726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027726] [ENSMUST00000127412] [ENSMUST00000154237] [ENSMUST00000172795] [ENSMUST00000173908]

AlphaFold

Q9DB73

Predicted Effect

probably damaging
Transcript: ENSMUST00000027726
AA Change: G141R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027726
Gene: ENSMUSG00000026456
AA Change: G141R

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:FAD_binding_6	48	155	1.6e-36	PFAM
Pfam:NAD_binding_1	181	289	1.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127412

SMART Domains

Protein: ENSMUSP00000134354
Gene: ENSMUSG00000026456

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
Pfam:FAD_binding_6	43	93	1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154237
AA Change: G141R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133385
Gene: ENSMUSG00000026456
AA Change: G141R

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:FAD_binding_6	48	155	6.6e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172795

SMART Domains

Protein: ENSMUSP00000133842
Gene: ENSMUSG00000026456

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173908
AA Change: G109R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134488
Gene: ENSMUSG00000026456
AA Change: G109R

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_6	16	123	6.4e-35	PFAM
Pfam:NAD_binding_1	149	176	3e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,119,149 (GRCm39)	L3552Q	probably damaging	Het
Atat1	T	C	17: 36,209,182 (GRCm39)	E353G	probably benign	Het
Banf2	A	G	2: 143,907,452 (GRCm39)	K42R	probably damaging	Het
Cabp7	T	A	11: 4,688,865 (GRCm39)	M202L	probably damaging	Het
Cage1	T	C	13: 38,207,233 (GRCm39)	E204G	probably damaging	Het
Caprin2	A	G	6: 148,770,500 (GRCm39)	V498A	probably benign	Het
Cfap161	A	G	7: 83,440,878 (GRCm39)	F150L	probably damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dnah9	T	C	11: 65,999,217 (GRCm39)	Q974R	probably null	Het
Eps8l3	G	A	3: 107,798,683 (GRCm39)	R523Q	probably benign	Het
Ext1	T	C	15: 52,955,808 (GRCm39)	I430V	possibly damaging	Het
Gga3	T	C	11: 115,481,717 (GRCm39)	K202R	probably damaging	Het
Gm11567	T	C	11: 99,770,136 (GRCm39)	W25R	unknown	Het
Gpr3	G	A	4: 132,937,988 (GRCm39)	A228V	probably damaging	Het
Krt10	T	C	11: 99,277,420 (GRCm39)	D426G	possibly damaging	Het
Krt24	T	A	11: 99,174,453 (GRCm39)	I205F	probably damaging	Het
Krt33a	T	C	11: 99,906,733 (GRCm39)	N81D	probably damaging	Het
Mapkbp1	T	C	2: 119,847,277 (GRCm39)	S505P	possibly damaging	Het
Matr3	A	G	18: 35,717,876 (GRCm39)	D696G	probably null	Het
Mov10	C	T	3: 104,711,899 (GRCm39)	G158S	probably benign	Het
Myh1	T	A	11: 67,102,196 (GRCm39)	M829K	probably benign	Het
Ncam2	T	C	16: 81,262,501 (GRCm39)	V318A	probably benign	Het
Ndufv3	A	G	17: 31,747,106 (GRCm39)	E332G	probably benign	Het
Ngdn	C	T	14: 55,254,578 (GRCm39)	T43M	probably benign	Het
Nop2	T	A	6: 125,117,785 (GRCm39)	D445E	probably damaging	Het
Or2y17	C	T	11: 49,232,007 (GRCm39)	S216F	probably benign	Het
Or3a10	G	A	11: 73,935,360 (GRCm39)	H247Y	probably damaging	Het
Or5w17	A	T	2: 87,584,184 (GRCm39)	M51K	possibly damaging	Het
Or8u8	A	T	2: 86,011,564 (GRCm39)	V297E	probably damaging	Het
Prl2b1	G	A	13: 27,567,601 (GRCm39)	A181V	probably benign	Het
Ptprg	T	A	14: 12,215,992 (GRCm38)	L1147Q	probably damaging	Het
Rubcn	T	C	16: 32,663,679 (GRCm39)	D319G	probably damaging	Het
Sfswap	G	A	5: 129,618,427 (GRCm39)	D454N	probably benign	Het
Slc38a6	G	T	12: 73,388,513 (GRCm39)	K242N	probably benign	Het
Tmigd3	A	G	3: 105,824,088 (GRCm39)	D19G	probably damaging	Het
Trim36	T	C	18: 46,308,722 (GRCm39)	E380G	probably benign	Het
Ttn	T	A	2: 76,624,976 (GRCm39)	I15201F	probably damaging	Het
Vmn2r12	A	G	5: 109,239,322 (GRCm39)	S414P	probably damaging	Het
Vmn2r82	A	T	10: 79,214,936 (GRCm39)	K306N	possibly damaging	Het
Wdfy4	A	T	14: 32,769,230 (GRCm39)	Y2232*	probably null	Het
Wdr53	A	G	16: 32,075,830 (GRCm39)	D345G	probably damaging	Het
Zfp26	G	A	9: 20,348,213 (GRCm39)	R784C	probably damaging	Het
Zfp58	A	T	13: 67,639,823 (GRCm39)	C223S	probably damaging	Het
Zfp618	A	G	4: 63,051,916 (GRCm39)	H899R		Het
Zfp963	A	G	8: 70,195,692 (GRCm39)	Y254H	probably benign	Het
Zfp994	T	C	17: 22,421,764 (GRCm39)	D17G	probably damaging	Het

Other mutations in Cyb5r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0510:Cyb5r1	UTSW	1	134,337,430 (GRCm39)	unclassified	probably benign
R0583:Cyb5r1	UTSW	1	134,335,339 (GRCm39)	missense	probably damaging	1.00
R1728:Cyb5r1	UTSW	1	134,335,405 (GRCm39)	missense	probably damaging	1.00
R1729:Cyb5r1	UTSW	1	134,335,405 (GRCm39)	missense	probably damaging	1.00
R1730:Cyb5r1	UTSW	1	134,335,405 (GRCm39)	missense	probably damaging	1.00
R1739:Cyb5r1	UTSW	1	134,335,405 (GRCm39)	missense	probably damaging	1.00
R1762:Cyb5r1	UTSW	1	134,335,405 (GRCm39)	missense	probably damaging	1.00
R1783:Cyb5r1	UTSW	1	134,335,405 (GRCm39)	missense	probably damaging	1.00
R1784:Cyb5r1	UTSW	1	134,335,405 (GRCm39)	missense	probably damaging	1.00
R1785:Cyb5r1	UTSW	1	134,335,405 (GRCm39)	missense	probably damaging	1.00
R2012:Cyb5r1	UTSW	1	134,335,315 (GRCm39)	missense	probably damaging	1.00
R2152:Cyb5r1	UTSW	1	134,337,363 (GRCm39)	missense	possibly damaging	0.87
R4679:Cyb5r1	UTSW	1	134,335,571 (GRCm39)	missense	probably benign	0.00
R7130:Cyb5r1	UTSW	1	134,335,759 (GRCm39)	intron	probably benign
R7434:Cyb5r1	UTSW	1	134,335,576 (GRCm39)	missense	probably benign	0.03
R7514:Cyb5r1	UTSW	1	134,338,268 (GRCm39)	missense	probably damaging	1.00
R7917:Cyb5r1	UTSW	1	134,334,638 (GRCm39)	intron	probably benign
R8269:Cyb5r1	UTSW	1	134,334,803 (GRCm39)	utr 3 prime	probably benign
R8803:Cyb5r1	UTSW	1	134,333,696 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTCCTGGATTCCTCTGACAACAG -3'
(R):5'- CACACATGCAGATTCTGGGG -3'

Sequencing Primer
(F):5'- CTGGATTCCTCTGACAACAGGAAATG -3'
(R):5'- TTGGACTGTAGGGACAGG -3'

Posted On

2022-08-09