Mutagenetix > Incidental Mutations

Incidental Mutation 'R5155:Cyb5r4'

396669

Institutional Source

Beutler Lab

Gene Symbol

Cyb5r4

Ensembl Gene

ENSMUSG00000032872

Gene Name

cytochrome b5 reductase 4

Synonyms

b5/b5r, Ncb5or, B5+B5R, 2810034J18Rik

MMRRC Submission

042737-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87022014-87077774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87040403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 155 (M155R)

Ref Sequence

ENSEMBL: ENSMUSP00000126119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168529]

AlphaFold

Q3TDX8

Predicted Effect

probably benign
Transcript: ENSMUST00000168529
AA Change: M155R

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126119
Gene: ENSMUSG00000032872
AA Change: M155R

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
Cyt-b5	57	130	2.56e-26	SMART
Pfam:CS	175	253	4.1e-16	PFAM
Pfam:FAD_binding_6	284	391	4.1e-22	PFAM
Pfam:NAD_binding_1	402	508	4.7e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174043

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174724

SMART Domains

Protein: ENSMUSP00000133556
Gene: ENSMUSG00000032872

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
Cyt-b5	57	130	2.56e-26	SMART
Pfam:CS	175	253	4.2e-16	PFAM
Pfam:FAD_binding_6	284	391	1.7e-22	PFAM
Pfam:NAD_binding_1	402	509	3.9e-17	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]
PHENOTYPE: Homozygous null mice exhibit defects in glucose homeostasis and pancreatic abnormalities consistent with symptoms of diabetes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	C	5: 107,490,703	I323T	probably damaging	Het
Abca13	T	C	11: 9,532,447	V4326A	probably damaging	Het
Actn4	A	G	7: 28,962,017		probably null	Het
Adamts8	A	G	9: 30,954,548	D464G	probably benign	Het
Adssl1	T	C	12: 112,638,208	I366T	probably damaging	Het
Alox12e	T	C	11: 70,316,255	D575G	possibly damaging	Het
Ankrd44	A	T	1: 54,778,330	M73K	probably benign	Het
Ap4e1	A	G	2: 127,063,369	T987A	probably benign	Het
Banp	A	C	8: 122,001,020	S318R	probably damaging	Het
Bcas1	T	C	2: 170,418,618	H47R	probably damaging	Het
Brwd1	G	T	16: 96,002,793	S2524*	probably null	Het
Cand2	T	A	6: 115,792,258	D676E	probably benign	Het
Cc2d1a	A	T	8: 84,141,126	H224Q	probably benign	Het
Ccdc138	A	T	10: 58,507,572	Y83F	probably benign	Het
Ccdc155	C	A	7: 45,189,654	E53*	probably null	Het
Ccdc162	A	T	10: 41,553,580		probably null	Het
Ccdc162	A	C	10: 41,579,151	S396A	probably damaging	Het
Ces1e	A	T	8: 93,201,406	*562R	probably null	Het
Clstn2	T	A	9: 97,456,431	M892L	probably benign	Het
Crybg3	T	C	16: 59,524,901	T2673A	possibly damaging	Het
Cstf3	A	G	2: 104,652,485	N326S	probably benign	Het
Cux1	G	A	5: 136,565,441		probably benign	Het
D130043K22Rik	A	G	13: 24,872,290	D535G	probably damaging	Het
D430042O09Rik	A	G	7: 125,872,184	T1486A	probably damaging	Het
Dnah2	G	A	11: 69,422,536	P4266S	probably damaging	Het
Dnah7a	T	A	1: 53,643,495	N272I	probably benign	Het
Dsg2	A	G	18: 20,598,658	Y779C	possibly damaging	Het
Eif4g3	T	A	4: 138,126,743	N507K	probably benign	Het
Elavl4	T	C	4: 110,292,636	Q3R	probably null	Het
Engase	T	G	11: 118,481,281	I133S	probably benign	Het
Ercc5	T	C	1: 44,180,622	V1018A	probably damaging	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fam8a1	G	A	13: 46,673,562	A270T	probably benign	Het
Fhdc1	T	G	3: 84,446,150	Q589H	probably benign	Het
Gatm	G	A	2: 122,609,853	T35I	probably benign	Het
Gcgr	T	C	11: 120,537,046	I271T	probably benign	Het
Gm21818	T	C	13: 120,173,553	S124P	probably benign	Het
Gm527	T	A	12: 64,923,607	Y239N	probably damaging	Het
H2-Ab1	A	G	17: 34,267,384	H139R	possibly damaging	Het
Herc2	G	A	7: 56,227,826	R4547Q	possibly damaging	Het
Itga1	A	T	13: 115,035,303	S89T	probably benign	Het
Lrba	A	G	3: 86,351,300	M1365V	probably benign	Het
Lrp1b	A	C	2: 41,728,622		probably null	Het
Map1a	G	A	2: 121,302,386	A990T	probably damaging	Het
Micall2	C	A	5: 139,710,231	L784F	probably damaging	Het
Mmp9	T	C	2: 164,949,066		probably null	Het
Mrps7	T	A	11: 115,604,829	Y64*	probably null	Het
Mslnl	C	T	17: 25,738,968	Q62*	probably null	Het
Nfil3	A	G	13: 52,968,580	L96P	probably damaging	Het
Olfr453	A	G	6: 42,744,814	Y259C	probably damaging	Het
Phf3	T	C	1: 30,824,376	D756G	possibly damaging	Het
Plxnd1	C	T	6: 115,958,988		probably null	Het
Prickle4	C	T	17: 47,690,057		probably null	Het
Prr9	T	A	3: 92,123,049	T95S	possibly damaging	Het
Prrc2a	A	G	17: 35,160,091		probably null	Het
Prrt3	A	G	6: 113,497,559		probably null	Het
Psme4	A	T	11: 30,876,806	Y1775F	probably damaging	Het
Pum2	T	C	12: 8,713,572	V243A	possibly damaging	Het
Rnf32	T	C	5: 29,203,147	S125P	probably damaging	Het
Rnf8	A	G	17: 29,626,630	Y65C	probably damaging	Het
Rph3a	T	C	5: 120,948,770	T456A	possibly damaging	Het
Scaper	T	A	9: 55,556,086	Q854L	probably null	Het
Sez6l2	T	C	7: 126,962,373	S472P	probably damaging	Het
Spsb3	T	C	17: 24,886,995		probably benign	Het
Srebf2	A	G	15: 82,196,226	D40G	probably damaging	Het
Sspo	A	G	6: 48,460,474	N1389D	probably benign	Het
Taf4b	G	T	18: 14,830,095	A631S	probably benign	Het
Tigd4	G	A	3: 84,594,663	V296M	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,316		probably benign	Het
Uso1	T	A	5: 92,167,335		probably null	Het
Vmn2r6	T	G	3: 64,538,514	N597H	probably benign	Het
Zfc3h1	T	A	10: 115,412,121	S1076R	possibly damaging	Het
Zfp64	T	A	2: 168,906,965	Q44L	probably benign	Het

Other mutations in Cyb5r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01833:Cyb5r4	APN	9	87059452	critical splice donor site	probably null
cello	UTSW	9	87029538	nonsense	probably null
viol	UTSW	9	87059077	critical splice donor site	probably null
PIT1430001:Cyb5r4	UTSW	9	87038738	missense	probably benign
R0040:Cyb5r4	UTSW	9	87066742	splice site	probably null
R0373:Cyb5r4	UTSW	9	87027040	missense	probably damaging	0.99
R0755:Cyb5r4	UTSW	9	87029572	missense	probably damaging	1.00
R1381:Cyb5r4	UTSW	9	87022233	missense	probably benign	0.03
R1488:Cyb5r4	UTSW	9	87029538	nonsense	probably null
R1510:Cyb5r4	UTSW	9	87066643	intron	probably benign
R1856:Cyb5r4	UTSW	9	87022209	missense	possibly damaging	0.61
R1857:Cyb5r4	UTSW	9	87041279	missense	probably benign	0.00
R1858:Cyb5r4	UTSW	9	87041279	missense	probably benign	0.00
R1870:Cyb5r4	UTSW	9	87040409	missense	probably benign	0.00
R1876:Cyb5r4	UTSW	9	87055814	missense	probably damaging	1.00
R1959:Cyb5r4	UTSW	9	87055849	missense	possibly damaging	0.82
R2036:Cyb5r4	UTSW	9	87042879	splice site	probably benign
R2895:Cyb5r4	UTSW	9	87040399	nonsense	probably null
R4226:Cyb5r4	UTSW	9	87057229	missense	probably damaging	0.99
R4655:Cyb5r4	UTSW	9	87059429	missense	probably benign	0.01
R4971:Cyb5r4	UTSW	9	87057171	missense	possibly damaging	0.80
R5038:Cyb5r4	UTSW	9	87059077	critical splice donor site	probably null
R5187:Cyb5r4	UTSW	9	87026948	missense	possibly damaging	0.92
R5654:Cyb5r4	UTSW	9	87047480	missense	probably damaging	0.98
R5659:Cyb5r4	UTSW	9	87055828	missense	probably benign	0.22
R5926:Cyb5r4	UTSW	9	87057261	missense	probably benign	0.04
R6083:Cyb5r4	UTSW	9	87057168	missense	probably damaging	1.00
R6610:Cyb5r4	UTSW	9	87059417	missense	probably benign
R7311:Cyb5r4	UTSW	9	87055782	missense	probably damaging	1.00
R7662:Cyb5r4	UTSW	9	87027038	missense	possibly damaging	0.83
R7748:Cyb5r4	UTSW	9	87032381	missense	probably damaging	1.00
R8171:Cyb5r4	UTSW	9	87042810	missense	possibly damaging	0.81
R8253:Cyb5r4	UTSW	9	87059055	missense	probably damaging	1.00
R8369:Cyb5r4	UTSW	9	87040433	missense	probably benign	0.00
R8816:Cyb5r4	UTSW	9	87022233	missense	probably benign	0.31
RF001:Cyb5r4	UTSW	9	87040416	small insertion	probably benign
RF006:Cyb5r4	UTSW	9	87040425	small insertion	probably benign
RF006:Cyb5r4	UTSW	9	87040441	small insertion	probably benign
RF013:Cyb5r4	UTSW	9	87040432	small insertion	probably benign
RF014:Cyb5r4	UTSW	9	87040415	small insertion	probably benign
RF015:Cyb5r4	UTSW	9	87040432	small insertion	probably benign
RF015:Cyb5r4	UTSW	9	87040438	small insertion	probably benign
RF016:Cyb5r4	UTSW	9	87040425	small insertion	probably benign
RF016:Cyb5r4	UTSW	9	87040441	small insertion	probably benign
RF016:Cyb5r4	UTSW	9	87040444	small insertion	probably benign
RF024:Cyb5r4	UTSW	9	87040435	small insertion	probably benign
RF025:Cyb5r4	UTSW	9	87040444	small insertion	probably benign
RF026:Cyb5r4	UTSW	9	87040433	small insertion	probably benign
RF027:Cyb5r4	UTSW	9	87040431	small insertion	probably benign
RF029:Cyb5r4	UTSW	9	87040430	small insertion	probably benign
RF029:Cyb5r4	UTSW	9	87040442	small insertion	probably benign
RF030:Cyb5r4	UTSW	9	87040409	small insertion	probably benign
RF030:Cyb5r4	UTSW	9	87040415	small insertion	probably benign
RF031:Cyb5r4	UTSW	9	87040445	small insertion	probably benign
RF032:Cyb5r4	UTSW	9	87040413	small insertion	probably benign
RF034:Cyb5r4	UTSW	9	87040417	small insertion	probably benign
RF034:Cyb5r4	UTSW	9	87040447	nonsense	probably null
RF036:Cyb5r4	UTSW	9	87040430	small insertion	probably benign
RF038:Cyb5r4	UTSW	9	87040442	small insertion	probably benign
RF040:Cyb5r4	UTSW	9	87040409	small insertion	probably benign
RF043:Cyb5r4	UTSW	9	87040411	small insertion	probably benign
RF043:Cyb5r4	UTSW	9	87040431	small insertion	probably benign
RF045:Cyb5r4	UTSW	9	87040402	nonsense	probably null
RF045:Cyb5r4	UTSW	9	87040447	small insertion	probably benign
RF052:Cyb5r4	UTSW	9	87040422	small insertion	probably benign
RF053:Cyb5r4	UTSW	9	87040422	small insertion	probably benign
RF055:Cyb5r4	UTSW	9	87040414	small insertion	probably benign
RF055:Cyb5r4	UTSW	9	87040438	small insertion	probably benign
RF056:Cyb5r4	UTSW	9	87040410	small insertion	probably benign
RF059:Cyb5r4	UTSW	9	87040445	small insertion	probably benign
RF060:Cyb5r4	UTSW	9	87040413	small insertion	probably benign
RF061:Cyb5r4	UTSW	9	87040435	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGGGAGAGAGTAAGCTTTTG -3'
(R):5'- AATGAGGTACTGCAGTTCGTG -3'

Sequencing Primer
(F):5'- AGAGAGTAAGCTTTTGGAAAACAC -3'
(R):5'- GCAGTTCGTGCGCTAAGC -3'

Posted On

2016-06-21