Mutagenetix > Incidental Mutation

Incidental Mutation 'R6986:Cyb5rl'

542960

Institutional Source

Beutler Lab

Gene Symbol

Cyb5rl

Ensembl Gene

ENSMUSG00000028621

Gene Name

cytochrome b5 reductase-like

Synonyms

2810410C14Rik

MMRRC Submission

045093-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R6986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106924035-106945204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106928073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 3 (S3T)

Ref Sequence

ENSEMBL: ENSMUSP00000119249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030364] [ENSMUST00000030365] [ENSMUST00000106756] [ENSMUST00000106758] [ENSMUST00000106760] [ENSMUST00000137269] [ENSMUST00000145324] [ENSMUST00000149453] [ENSMUST00000154283]

AlphaFold

B1AS42

Predicted Effect

probably benign
Transcript: ENSMUST00000030364
AA Change: S70T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621
AA Change: S70T

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	15	56	1e-10	PFAM
Pfam:FAD_binding_6	80	156	2.3e-11	PFAM
Pfam:NAD_binding_1	152	266	1.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030365

SMART Domains

Protein: ENSMUSP00000030365
Gene: ENSMUSG00000028622

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
Pfam:PDCD9	292	420	6.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106756
AA Change: S10T

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102367
Gene: ENSMUSG00000028621
AA Change: S10T

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_6	20	117	4.7e-23	PFAM
Pfam:NAD_binding_1	127	241	3.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106758
AA Change: S70T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621
AA Change: S70T

Domain	Start	End	E-Value	Type
Pfam:Oxidored-like	10	55	1.7e-15	PFAM
Pfam:FAD_binding_6	80	177	8.2e-25	PFAM
Pfam:NAD_binding_1	187	301	8.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106760
AA Change: S70T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102371
Gene: ENSMUSG00000028621
AA Change: S70T

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	15	56	2.5e-14	PFAM
Pfam:FAD_binding_6	80	156	3.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126207

SMART Domains

Protein: ENSMUSP00000116114
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
Pfam:Oxidored-like	4	49	1.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137269
AA Change: S3T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119249
Gene: ENSMUSG00000028621
AA Change: S3T

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_6	13	110	7.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145324
AA Change: S70T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122502
Gene: ENSMUSG00000028621
AA Change: S70T

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	14	56	3.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149453

SMART Domains

Protein: ENSMUSP00000121581
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	14	56	5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154283
AA Change: S70T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000119366
Gene: ENSMUSG00000028621
AA Change: S70T

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	14	56	4.5e-15	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	T	C	16: 4,129,441 (GRCm39)	N482D	probably damaging	Het
Agbl3	A	G	6: 34,816,387 (GRCm39)	K766E	probably benign	Het
Aldh3a1	T	A	11: 61,105,077 (GRCm39)	I154N	probably damaging	Het
Cdca2	C	T	14: 67,932,446 (GRCm39)	V486I	probably benign	Het
Celf3	G	C	3: 94,395,024 (GRCm39)	A313P	possibly damaging	Het
Cgrrf1	T	C	14: 47,069,586 (GRCm39)		probably benign	Het
Chd7	T	A	4: 8,859,285 (GRCm39)	N2458K	possibly damaging	Het
Chrna5	T	A	9: 54,913,741 (GRCm39)	M429K	possibly damaging	Het
Cux2	A	T	5: 122,006,642 (GRCm39)	L876Q	possibly damaging	Het
Ehd4	A	T	2: 119,927,571 (GRCm39)	M321K	probably damaging	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Endod1	T	C	9: 14,268,606 (GRCm39)	E293G	probably damaging	Het
Fat3	G	A	9: 15,932,631 (GRCm39)	T1434I	probably damaging	Het
Flrt2	T	A	12: 95,747,459 (GRCm39)	I599N	probably damaging	Het
Gm6370	T	A	5: 146,430,398 (GRCm39)		probably null	Het
Gm7247	T	C	14: 51,602,832 (GRCm39)	M56T	possibly damaging	Het
H3c8	A	G	13: 23,719,603 (GRCm39)		probably benign	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Ints8	T	C	4: 11,204,474 (GRCm39)	Y994C	probably damaging	Het
Irf1	A	G	11: 53,664,966 (GRCm39)	T165A	probably damaging	Het
Lgr6	G	T	1: 134,921,694 (GRCm39)	Q217K	possibly damaging	Het
Lrrc36	T	C	8: 106,185,079 (GRCm39)	S619P	probably damaging	Het
Morn4	T	C	19: 42,066,453 (GRCm39)	N45D	possibly damaging	Het
Mtarc2	T	C	1: 184,573,460 (GRCm39)	H53R	probably benign	Het
Mtmr3	T	C	11: 4,439,692 (GRCm39)	T583A	probably damaging	Het
Ncdn	A	G	4: 126,641,022 (GRCm39)	Y493H	probably damaging	Het
Nckap1	T	A	2: 80,350,911 (GRCm39)	Y726F	probably benign	Het
Optc	T	A	1: 133,825,702 (GRCm39)	M275L	probably benign	Het
Or2w25	A	G	11: 59,504,924 (GRCm39)	K378R	possibly damaging	Het
Or6c69c	G	A	10: 129,911,199 (GRCm39)	V307M	possibly damaging	Het
Perm1	A	T	4: 156,302,976 (GRCm39)	K507*	probably null	Het
Pgbd5	C	T	8: 125,111,212 (GRCm39)	E160K	possibly damaging	Het
Polr2k	C	A	15: 36,175,181 (GRCm39)	P14T	probably benign	Het
Ppp2r3d	A	T	9: 124,439,080 (GRCm38)	Y112*	probably null	Het
Pramel14	T	A	4: 143,719,888 (GRCm39)	D159V	probably damaging	Het
Rnase9	T	C	14: 51,276,537 (GRCm39)	N147S	probably benign	Het
Rnls	C	T	19: 33,359,781 (GRCm39)	G11D	probably damaging	Het
Sbf2	T	C	7: 109,929,822 (GRCm39)	T333A	probably damaging	Het
Scn3a	A	T	2: 65,338,962 (GRCm39)	N572K	probably damaging	Het
Serinc3	A	G	2: 163,469,891 (GRCm39)	L319P	probably benign	Het
Setbp1	T	C	18: 78,901,054 (GRCm39)	D871G	probably damaging	Het
Sf3b2	T	C	19: 5,329,923 (GRCm39)	T661A	probably benign	Het
Sgsm2	T	A	11: 74,782,867 (GRCm39)	R30W	probably damaging	Het
Sh3tc1	A	G	5: 35,881,288 (GRCm39)	S52P	probably benign	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
Snrpa	A	T	7: 26,892,389 (GRCm39)	M57K	probably damaging	Het
Spata31f3	A	G	4: 42,868,696 (GRCm39)	V309A	possibly damaging	Het
Srbd1	A	T	17: 86,292,650 (GRCm39)	I973N	probably damaging	Het
Srp72	T	A	5: 77,142,723 (GRCm39)	S428T	probably benign	Het
Ss18l2	A	G	9: 121,541,671 (GRCm39)	Y50C	probably damaging	Het
St14	A	G	9: 31,007,845 (GRCm39)	L578P	probably damaging	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Tmc1	T	C	19: 20,801,647 (GRCm39)	N460D	probably benign	Het
Tnni3k	C	T	3: 154,667,501 (GRCm39)	G280R	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trpc3	A	G	3: 36,709,165 (GRCm39)		probably null	Het
Tshr	C	T	12: 91,500,731 (GRCm39)	A152V	probably damaging	Het
Tuft1	G	A	3: 94,521,461 (GRCm39)	P358S	probably damaging	Het
Vmn2r120	A	T	17: 57,816,340 (GRCm39)	S672T	probably damaging	Het
Vmn2r83	G	T	10: 79,316,093 (GRCm39)	E496D	probably benign	Het
Vmn2r91	A	G	17: 18,356,271 (GRCm39)	N646S	probably benign	Het
Zfp9	A	G	6: 118,441,426 (GRCm39)	V412A	possibly damaging	Het
Zmynd8	G	T	2: 165,675,335 (GRCm39)	H273N	probably damaging	Het

Other mutations in Cyb5rl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Cyb5rl	APN	4	106,941,493 (GRCm39)	missense	probably benign	0.21
IGL01350:Cyb5rl	APN	4	106,941,409 (GRCm39)	missense	possibly damaging	0.77
IGL02418:Cyb5rl	APN	4	106,928,182 (GRCm39)	missense	probably damaging	1.00
IGL02746:Cyb5rl	APN	4	106,925,836 (GRCm39)	missense	probably benign	0.12
IGL03088:Cyb5rl	APN	4	106,938,225 (GRCm39)	nonsense	probably null
IGL03279:Cyb5rl	APN	4	106,941,325 (GRCm39)	missense	possibly damaging	0.95
R1301:Cyb5rl	UTSW	4	106,938,104 (GRCm39)	missense	probably damaging	1.00
R1731:Cyb5rl	UTSW	4	106,938,110 (GRCm39)	missense	probably damaging	1.00
R2091:Cyb5rl	UTSW	4	106,928,203 (GRCm39)	missense	probably damaging	1.00
R2165:Cyb5rl	UTSW	4	106,925,880 (GRCm39)	missense	probably damaging	1.00
R2504:Cyb5rl	UTSW	4	106,938,142 (GRCm39)	missense	probably benign	0.01
R4223:Cyb5rl	UTSW	4	106,938,185 (GRCm39)	missense	probably damaging	0.97
R4851:Cyb5rl	UTSW	4	106,941,510 (GRCm39)	missense	probably benign	0.39
R4964:Cyb5rl	UTSW	4	106,926,329 (GRCm39)	intron	probably benign
R5797:Cyb5rl	UTSW	4	106,941,404 (GRCm39)	missense	possibly damaging	0.69
R6575:Cyb5rl	UTSW	4	106,942,550 (GRCm39)	missense	probably benign	0.20
R6688:Cyb5rl	UTSW	4	106,931,102 (GRCm39)	missense	probably damaging	0.99
R7097:Cyb5rl	UTSW	4	106,944,513 (GRCm39)	missense	unknown
R7139:Cyb5rl	UTSW	4	106,928,208 (GRCm39)	missense	probably benign	0.35
R7293:Cyb5rl	UTSW	4	106,938,143 (GRCm39)	missense	probably damaging	0.98
R7920:Cyb5rl	UTSW	4	106,928,205 (GRCm39)	missense	possibly damaging	0.60
R8234:Cyb5rl	UTSW	4	106,925,935 (GRCm39)	missense	probably damaging	1.00
R8333:Cyb5rl	UTSW	4	106,925,875 (GRCm39)	missense	probably benign	0.03
R8367:Cyb5rl	UTSW	4	106,928,146 (GRCm39)	missense	probably benign	0.00
R8546:Cyb5rl	UTSW	4	106,925,923 (GRCm39)	missense	probably damaging	1.00
R8998:Cyb5rl	UTSW	4	106,938,157 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- CTACAGTTGTGGGGAGCTACAG -3'
(R):5'- CAGCTGGTCAATGGCAAAG -3'

Sequencing Primer
(F):5'- GAAAGCTTACAAGAAGAGTAAACTCC -3'
(R):5'- CTGGTCAATGGCAAAGCAGGG -3'

Posted On

2018-11-28