Mutagenetix > Incidental Mutation

Incidental Mutation 'R1301:Cyb5rl'

158354

Institutional Source

Beutler Lab

Gene Symbol

Cyb5rl

Ensembl Gene

ENSMUSG00000028621

Gene Name

cytochrome b5 reductase-like

Synonyms

2810410C14Rik

MMRRC Submission

039367-MU

Accession Numbers

Essential gene?

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

Stock #

R1301 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

106924035-106945204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 106938104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 127 (M127R)

Ref Sequence

ENSEMBL: ENSMUSP00000102367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030364] [ENSMUST00000106756] [ENSMUST00000106758] [ENSMUST00000106760] [ENSMUST00000127916] [ENSMUST00000137269] [ENSMUST00000149453]

AlphaFold

B1AS42

Predicted Effect

probably damaging
Transcript: ENSMUST00000030364
AA Change: M152R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621
AA Change: M152R

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 damaging
Transcript: ENSMUST00000106756
AA Change: M127R

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

SMART Domains

Protein: ENSMUSP00000102367
Gene: ENSMUSG00000028621
AA Change: M127R

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 damaging
Transcript: ENSMUST00000106758
AA Change: M187R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621
AA Change: M187R

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

SMART Domains

Protein: ENSMUSP00000102371
Gene: ENSMUSG00000028621

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: ENSMUST00000127916

Predicted Effect

probably benign
Transcript: ENSMUST00000137269

SMART Domains

Protein: ENSMUSP00000119249
Gene: ENSMUSG00000028621

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156406

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.3%
20x: 82.6%

Validation Efficiency

96% (67/70)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,291,635 (GRCm39)	I24L	probably benign	Het
Ano1	A	G	7: 144,187,426 (GRCm39)	W447R	possibly damaging	Het
Blm	T	A	7: 80,105,165 (GRCm39)	K103*	probably null	Het
Camta2	A	G	11: 70,567,230 (GRCm39)	I675T	probably benign	Het
Catsperz	G	A	19: 6,902,450 (GRCm39)	R15C	probably damaging	Het
Chd1l	T	C	3: 97,510,964 (GRCm39)		probably benign	Het
Corin	C	A	5: 72,462,276 (GRCm39)	E844D	possibly damaging	Het
Dcdc2a	A	T	13: 25,286,569 (GRCm39)	N164I	possibly damaging	Het
Dnah6	A	G	6: 73,185,528 (GRCm39)		probably null	Het
Emilin2	T	C	17: 71,562,960 (GRCm39)		probably benign	Het
Epb41l2	T	A	10: 25,319,800 (GRCm39)	V211D	probably damaging	Het
Fbxo47	C	T	11: 97,759,427 (GRCm39)	M166I	probably benign	Het
Golm1	T	C	13: 59,786,187 (GRCm39)	D335G	probably damaging	Het
Gpn1	T	A	5: 31,660,773 (GRCm39)	M188K	probably damaging	Het
Gpr84	T	A	15: 103,217,646 (GRCm39)	S144C	probably damaging	Het
Grm8	G	T	6: 27,981,200 (GRCm39)	Q237K	possibly damaging	Het
Gsdmd	C	A	15: 75,738,908 (GRCm39)		probably null	Het
Hmgcr	G	A	13: 96,795,528 (GRCm39)	T347I	probably damaging	Het
Hsd17b7	T	A	1: 169,788,774 (GRCm39)		probably benign	Het
Hsd3b9	G	A	3: 98,354,182 (GRCm39)	Q106*	probably null	Het
Klhl7	T	G	5: 24,364,489 (GRCm39)	W508G	probably damaging	Het
Lrp2	C	A	2: 69,258,948 (GRCm39)	D4581Y	probably damaging	Het
Lrrc7	T	C	3: 157,840,968 (GRCm39)	N1357D	probably benign	Het
Macf1	T	C	4: 123,380,451 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,577,692 (GRCm39)	T329A	probably damaging	Het
Mroh9	C	T	1: 162,871,552 (GRCm39)		probably null	Het
Mta2	A	G	19: 8,926,550 (GRCm39)		probably benign	Het
Myo3a	A	T	2: 22,271,906 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,384,352 (GRCm39)	D153G	probably benign	Het
Nup133	T	C	8: 124,644,156 (GRCm39)		probably benign	Het
Nup210	C	T	6: 91,019,329 (GRCm39)	V259M	possibly damaging	Het
Or10ak14	C	T	4: 118,610,816 (GRCm39)	M308I	probably benign	Het
Or5b112	A	T	19: 13,319,211 (GRCm39)	I30F	probably benign	Het
Or9i14	A	T	19: 13,792,726 (GRCm39)	V76D	probably damaging	Het
Otog	C	T	7: 45,939,113 (GRCm39)	R2048C	probably damaging	Het
Pacc1	T	C	1: 191,080,632 (GRCm39)	V284A	probably damaging	Het
Paqr7	T	C	4: 134,235,124 (GRCm39)	L327P	probably damaging	Het
Parl	A	G	16: 20,105,676 (GRCm39)	S249P	probably damaging	Het
Phc1	A	G	6: 122,302,833 (GRCm39)	I230T	probably benign	Het
Pitpnm1	T	G	19: 4,160,831 (GRCm39)		probably null	Het
Plpp1	A	G	13: 112,971,477 (GRCm39)	Y48C	probably damaging	Het
Pxdc1	A	G	13: 34,812,870 (GRCm39)	F194L	probably benign	Het
Rp1	A	T	1: 4,416,159 (GRCm39)	V1651D	possibly damaging	Het
Serpinb1c	T	A	13: 33,080,943 (GRCm39)	R47*	probably null	Het
Sis	T	C	3: 72,853,915 (GRCm39)	T521A	possibly damaging	Het
Slc16a9	A	G	10: 70,118,308 (GRCm39)	D209G	probably benign	Het
Slc26a4	A	T	12: 31,575,567 (GRCm39)	C706*	probably null	Het
Slc37a2	A	G	9: 37,148,177 (GRCm39)	V325A	probably benign	Het
Speg	T	A	1: 75,378,145 (GRCm39)	D784E	probably damaging	Het
Sycp1	T	C	3: 102,827,938 (GRCm39)	I270V	probably benign	Het
Tatdn2	T	A	6: 113,681,076 (GRCm39)	F309I	probably damaging	Het
Tmem67	T	C	4: 12,089,400 (GRCm39)		probably benign	Het
Trpm1	T	A	7: 63,852,801 (GRCm39)		probably null	Het
Wrn	T	C	8: 33,782,714 (GRCm39)	R496G	probably damaging	Het
Zfhx2	A	G	14: 55,300,854 (GRCm39)	V2299A	probably benign	Het
Zfp819	T	A	7: 43,266,524 (GRCm39)	S260T	possibly 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
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
R6986:Cyb5rl	UTSW	4	106,928,073 (GRCm39)	missense	probably benign	0.18
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'- ATGTGGCTTCATGCACCAAGGG -3'
(R):5'- GCACAAAGGGAATGCAGTTCGTTAG -3'

Sequencing Primer
(F):5'- CTTCATGCACCAAGGGAAGAG -3'
(R):5'- GCTCACCTGACTGAGGAC -3'

Posted On

2014-02-18