Mutagenetix > Incidental Mutations

Incidental Mutation 'R4851:Cyb5rl'

373530

Institutional Source

Beutler Lab

Gene Symbol

Cyb5rl

Ensembl Gene

ENSMUSG00000028621

Gene Name

cytochrome b5 reductase-like

Synonyms

2810410C14Rik

MMRRC Submission

042463-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R4851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107066988-107088268 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107084313 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 252 (S252A)

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 benign
Transcript: ENSMUST00000030364
AA Change: S277A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621
AA Change: S277A

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: ENSMUST00000106756
AA Change: S252A

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102367
Gene: ENSMUSG00000028621
AA Change: S252A

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: S312A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621
AA Change: S312A

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

unknown
Transcript: ENSMUST00000137269
AA Change: S177A

SMART Domains

Protein: ENSMUSP00000119249
Gene: ENSMUSG00000028621
AA Change: S177A

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

Meta Mutation Damage Score

0.1168

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (99/99)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451G09Rik	A	G	16: 4,976,274		noncoding transcript	Het
Abca13	A	T	11: 9,483,890	R4148S	probably benign	Het
Acoxl	T	A	2: 128,044,391	L182Q	possibly damaging	Het
Aldh7a1	T	C	18: 56,532,016	T364A	possibly damaging	Het
App	T	C	16: 85,056,434	D252G	unknown	Het
Arid1a	A	G	4: 133,681,361	I1945T	unknown	Het
Arsk	C	T	13: 76,065,279		probably null	Het
Atad2b	G	A	12: 4,943,251	G257S	probably benign	Het
Best1	C	A	19: 9,991,698	R218L	probably damaging	Het
Cacna1e	A	T	1: 154,436,554		probably null	Het
Cdh13	C	T	8: 118,757,390	T130I	possibly damaging	Het
Cela2a	T	C	4: 141,825,591	E25G	probably benign	Het
Cgnl1	T	A	9: 71,725,032	I346F	probably damaging	Het
Chil6	C	T	3: 106,389,928	G299D	possibly damaging	Het
Cic	G	A	7: 25,272,902	R686H	probably damaging	Het
Cnpy1	T	C	5: 28,245,740	I23V	probably benign	Het
Col6a3	T	A	1: 90,779,289	Y2034F	unknown	Het
Coq10b	T	C	1: 55,071,744	Y224H	probably benign	Het
Cryge	G	T	1: 65,051,052		probably benign	Het
Cyp2ab1	T	A	16: 20,315,064	R125S	probably damaging	Het
Dclk1	G	A	3: 55,480,390	G86R	probably damaging	Het
Dmtn	A	G	14: 70,604,814	M382T	probably damaging	Het
Dnah12	T	A	14: 26,716,629	L471*	probably null	Het
Dock10	A	T	1: 80,549,157	S782T	probably benign	Het
Egfem1	C	A	3: 29,151,883	H90N	possibly damaging	Het
Ephb6	T	A	6: 41,618,145	W698R	probably benign	Het
Exoc4	T	A	6: 33,918,408	C787S	probably damaging	Het
Exosc8	A	T	3: 54,732,102		probably benign	Het
Galc	T	A	12: 98,227,274	Q352L	probably benign	Het
Galns	A	G	8: 122,600,533	Y167H	probably damaging	Het
Glb1l	T	C	1: 75,208,884		probably benign	Het
Gm6185	A	T	1: 161,206,180		noncoding transcript	Het
Gm7694	T	C	1: 170,301,225	N245S	probably benign	Het
Gmcl1	T	G	6: 86,704,556	K385N	possibly damaging	Het
Gramd1c	A	T	16: 43,989,837	W463R	probably damaging	Het
Gtpbp8	C	G	16: 44,746,070	A90P	probably benign	Het
Hcar1	T	C	5: 123,878,668	E320G	probably benign	Het
Hhatl	T	C	9: 121,789,011	D226G	probably damaging	Het
Hist1h2bj	G	T	13: 22,043,251		probably benign	Het
Hoxc5	T	A	15: 103,015,369	I199N	probably damaging	Het
Iars2	T	C	1: 185,327,648	D121G	probably damaging	Het
Il5ra	T	A	6: 106,738,471	H134L	probably benign	Het
Isl2	T	A	9: 55,544,987	I281N	possibly damaging	Het
Kcnk13	T	C	12: 99,966,124	F60L	probably damaging	Het
Kdelr3	C	T	15: 79,524,865	T85M	possibly damaging	Het
Kdf1	A	T	4: 133,528,365	H131L	probably damaging	Het
Mipol1	T	A	12: 57,332,301	L182I	probably damaging	Het
Morc1	T	G	16: 48,561,617	S513R	probably benign	Het
Moxd2	A	T	6: 40,878,822	L611H	probably damaging	Het
Mpped2	T	C	2: 106,699,379		probably benign	Het
Mrpl51	T	C	6: 125,193,307	V92A	probably benign	Het
Mrps26	G	A	2: 130,563,761		probably benign	Het
Mrps5	A	G	2: 127,590,745	T29A	probably benign	Het
Mustn1	A	G	14: 30,879,560		probably benign	Het
Ncor2	G	A	5: 125,033,367	P858S	possibly damaging	Het
Nfasc	A	G	1: 132,602,021	F807S	probably damaging	Het
Nup50	G	A	15: 84,939,711	V422I	probably benign	Het
Olfr1044	T	A	2: 86,171,671	I49F	probably damaging	Het
Olfr1212	A	G	2: 88,958,586	N40S	probably damaging	Het
Olfr384	A	T	11: 73,603,057	H159L	probably damaging	Het
Olfr411	C	A	11: 74,346,943	V214L	probably benign	Het
Olfr417	T	A	1: 174,368,996	F26L	probably benign	Het
Olfr539	A	T	7: 140,667,313	M2L	probably benign	Het
Olfr695	A	T	7: 106,874,014	V77D	probably damaging	Het
Olfr907	T	A	9: 38,499,023	M118K	probably damaging	Het
Osbpl8	T	A	10: 111,204,800	M1K	probably null	Het
Pcdhb22	A	C	18: 37,519,034	D185A	possibly damaging	Het
Pcdhga8	G	T	18: 37,816,404	R291L	probably damaging	Het
Saysd1	A	T	14: 20,077,604	L84Q	possibly damaging	Het
Slc41a1	T	C	1: 131,830,770	I50T	probably benign	Het
Smg7	G	A	1: 152,844,269	P834S	probably benign	Het
Speer4a	C	T	5: 26,038,212	V92M	probably damaging	Het
Srf	T	C	17: 46,549,474	T461A	probably benign	Het
Ssu72	A	G	4: 155,715,596	D72G	possibly damaging	Het
Suco	T	C	1: 161,834,192	E890G	probably damaging	Het
Tenm3	A	G	8: 48,310,621		probably null	Het
Tm6sf1	A	G	7: 81,865,343	E7G	probably null	Het
Tm9sf2	A	G	14: 122,141,204	K240R	probably benign	Het
Tmem52	T	A	4: 155,470,368	Y149*	probably null	Het
Tpgs2	A	T	18: 25,151,248	Y68N	possibly damaging	Het
Vmn1r205	T	A	13: 22,592,904	E9D	probably benign	Het
Vmn2r32	A	G	7: 7,479,954	V7A	possibly damaging	Het
Vmn2r80	T	C	10: 79,194,322	Y661H	possibly damaging	Het
Vps39	G	A	2: 120,321,831		probably benign	Het
Vwde	A	T	6: 13,196,048	V326D	possibly damaging	Het
Zfp641	T	A	15: 98,288,717	S342C	probably damaging	Het
Zfp961	T	C	8: 71,969,003		probably benign	Het

Other mutations in Cyb5rl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Cyb5rl	APN	4	107084296	missense	probably benign	0.21
IGL01350:Cyb5rl	APN	4	107084212	missense	possibly damaging	0.77
IGL02418:Cyb5rl	APN	4	107070985	missense	probably damaging	1.00
IGL02746:Cyb5rl	APN	4	107068639	missense	probably benign	0.12
IGL03088:Cyb5rl	APN	4	107081028	nonsense	probably null
IGL03279:Cyb5rl	APN	4	107084128	missense	possibly damaging	0.95
R1301:Cyb5rl	UTSW	4	107080907	missense	probably damaging	1.00
R1731:Cyb5rl	UTSW	4	107080913	missense	probably damaging	1.00
R2091:Cyb5rl	UTSW	4	107071006	missense	probably damaging	1.00
R2165:Cyb5rl	UTSW	4	107068683	missense	probably damaging	1.00
R2504:Cyb5rl	UTSW	4	107080945	missense	probably benign	0.01
R4223:Cyb5rl	UTSW	4	107080988	missense	probably damaging	0.97
R4964:Cyb5rl	UTSW	4	107069132	intron	probably benign
R5797:Cyb5rl	UTSW	4	107084207	missense	possibly damaging	0.69
R6575:Cyb5rl	UTSW	4	107085353	missense	probably benign	0.20
R6688:Cyb5rl	UTSW	4	107073905	missense	probably damaging	0.99
R6986:Cyb5rl	UTSW	4	107070876	missense	probably benign	0.18
R7097:Cyb5rl	UTSW	4	107087316	missense	unknown
R7139:Cyb5rl	UTSW	4	107071011	missense	probably benign	0.35
R7293:Cyb5rl	UTSW	4	107080946	missense	probably damaging	0.98
R7920:Cyb5rl	UTSW	4	107071008	missense	possibly damaging	0.60
R8234:Cyb5rl	UTSW	4	107068738	missense	probably damaging	1.00
R8333:Cyb5rl	UTSW	4	107068678	missense	probably benign	0.03
R8367:Cyb5rl	UTSW	4	107070949	missense	probably benign	0.00
R8546:Cyb5rl	UTSW	4	107068726	missense	probably damaging	1.00
R8998:Cyb5rl	UTSW	4	107080960	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- AGAACAGCTTCCCTGGAGCTAC -3'
(R):5'- CAGTAGGACTCCACTTGCTTGG -3'

Sequencing Primer
(F):5'- TACCGTGACAAGACCCATTTTGG -3'
(R):5'- TGACTCCCTGACAACTGCTGG -3'

Posted On

2016-03-01