Mutagenetix > Incidental Mutations

Incidental Mutation 'R7311:Cyb5r4'

567594

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7311 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87022014-87077774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87055782 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 285 (C285R)

Ref Sequence

ENSEMBL: ENSMUSP00000126119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168529] [ENSMUST00000174294]

Predicted Effect

probably damaging
Transcript: ENSMUST00000168529
AA Change: C285R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126119
Gene: ENSMUSG00000032872
AA Change: C285R

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

probably benign
Transcript: ENSMUST00000174294

SMART Domains

Protein: ENSMUSP00000133918
Gene: ENSMUSG00000032872

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_6	16	89	8.7e-8	PFAM
Pfam:NAD_binding_1	21	88	1.7e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	A	G	12: 110,668,750	V118A	probably benign	Het
2410089E03Rik	G	T	15: 8,180,915	V291F	probably damaging	Het
2810403A07Rik	T	C	3: 88,711,695	S569P	probably damaging	Het
Accsl	C	T	2: 93,865,815	G146D	possibly damaging	Het
Acsm1	A	T	7: 119,638,082	H206L	probably damaging	Het
Acta2	A	G	19: 34,241,786	Y339H	probably damaging	Het
Adcy2	T	C	13: 68,630,954	D989G	probably damaging	Het
Ahnak	G	A	19: 9,002,143	A264T	probably benign	Het
Ahnak	A	G	19: 9,009,827	D2825G	possibly damaging	Het
AI464131	A	G	4: 41,498,577	I351T	probably damaging	Het
Akt1	G	T	12: 112,657,153	T291K	probably damaging	Het
Arhgap24	A	G	5: 102,892,685	D589G	probably damaging	Het
B4galnt3	G	A	6: 120,215,435	Q447*	probably null	Het
BC024063	C	T	10: 82,110,159	R538C	possibly damaging	Het
Bod1l	A	G	5: 41,794,333	S2912P	possibly damaging	Het
Bysl	A	G	17: 47,601,785	V360A	possibly damaging	Het
C1qb	A	G	4: 136,880,566	V162A	possibly damaging	Het
Ccdc57	G	A	11: 120,873,741	P736L	probably benign	Het
Cep290	T	A	10: 100,537,718	F1287I	probably damaging	Het
Cntn1	T	C	15: 92,232,275		probably null	Het
Col6a3	C	T	1: 90,822,291	G274R	probably damaging	Het
Cyp4f39	G	A	17: 32,489,655	C392Y	probably damaging	Het
Dcun1d3	A	T	7: 119,859,511	D100E	probably damaging	Het
Dhx58	A	T	11: 100,698,171	D516E	probably benign	Het
Dock5	T	A	14: 67,828,502	I351F	probably benign	Het
Elmod2	A	C	8: 83,319,412		probably null	Het
Endov	G	A	11: 119,507,251	A281T	probably benign	Het
Epyc	A	G	10: 97,649,700	M1V	probably null	Het
Espnl	T	A	1: 91,323,568	H128Q	probably damaging	Het
Fam20a	A	T	11: 109,674,628	C452*	probably null	Het
Fam241b	A	G	10: 62,108,954	V88A	probably damaging	Het
Fgd3	A	T	13: 49,296,690	S28T	possibly damaging	Het
Fmn1	C	A	2: 113,525,680	P920Q	unknown	Het
Gpr139	G	C	7: 119,144,866	D165E	probably benign	Het
Hoxb1	A	G	11: 96,367,101	T286A	possibly damaging	Het
Ifi204	T	A	1: 173,759,568	E174D	probably benign	Het
Igf2bp2	A	G	16: 22,061,882	I555T	possibly damaging	Het
Ighv1-85	A	G	12: 116,000,179	I67T	probably damaging	Het
Ihh	G	C	1: 74,951,147	P23R	unknown	Het
Irx2	T	C	13: 72,631,277	S227P	probably damaging	Het
Itga4	A	G	2: 79,256,182	I68V	probably benign	Het
Jsrp1	T	A	10: 80,812,072	T51S	probably benign	Het
Kifc2	G	T	15: 76,662,810	G306V	probably damaging	Het
L3mbtl2	T	A	15: 81,667,387	S85T	possibly damaging	Het
Lama1	T	C	17: 67,767,385	S944P		Het
Lama4	T	A	10: 39,026,635	C202S	probably damaging	Het
Lrrc29	A	G	8: 105,315,667		probably benign	Het
Mkl2	T	A	16: 13,405,854	Y866*	probably null	Het
Morc3	G	A	16: 93,849,173	D218N	probably damaging	Het
N4bp2l1	G	A	5: 150,572,924	T179I	probably damaging	Het
Narf	A	G	11: 121,249,150	E270G	probably benign	Het
Nsd2	A	G	5: 33,892,036	D1205G	probably damaging	Het
Olfr235	T	C	19: 12,268,704	V158A	probably benign	Het
Olfr417	T	C	1: 174,369,193	V92A	probably benign	Het
Parl	T	C	16: 20,287,875	T195A	probably benign	Het
Phrf1	A	G	7: 141,240,933	I158V	unknown	Het
Phtf1	T	C	3: 103,997,664	F543L	possibly damaging	Het
Plod2	T	A	9: 92,584,558	D190E	probably damaging	Het
Polr1a	G	T	6: 71,950,879	K871N	possibly damaging	Het
Ppp2r5a	A	T	1: 191,357,801	I252K	probably damaging	Het
Ptgir	T	A	7: 16,907,048	D88E	probably damaging	Het
Raly	T	C	2: 154,857,420	V48A	probably damaging	Het
Ripor1	T	A	8: 105,617,815	L527*	probably null	Het
Rnf213	T	C	11: 119,416,547	S678P		Het
Rpf1	T	A	3: 146,507,163	Q306L	probably benign	Het
Rpl14	T	C	9: 120,574,105	I122T	probably damaging	Het
Scn9a	C	A	2: 66,484,404	A1657S	possibly damaging	Het
Serpinb10	A	G	1: 107,546,747	Y213C	probably damaging	Het
Slc25a23	A	G	17: 57,052,827	L308P	probably damaging	Het
Smg9	T	A	7: 24,420,633	M387K	probably benign	Het
Socs3	G	A	11: 117,967,788	P148L	probably benign	Het
Susd3	A	G	13: 49,248,430	L14P	probably benign	Het
Syt14	T	A	1: 192,980,550	M80L	probably benign	Het
Tmprss2	T	A	16: 97,568,416	Y386F	possibly damaging	Het
Tmx3	T	A	18: 90,540,071	S416T	probably benign	Het
Treh	A	G	9: 44,685,948	T555A	probably benign	Het
Ttc5	T	G	14: 50,765,943	Q428P	probably damaging	Het
Vmn2r73	A	G	7: 85,871,984	S259P	possibly damaging	Het
Vps4b	A	T	1: 106,791,704	V38E	probably damaging	Het
Wdr83	C	A	8: 85,076,261	R177L	probably benign	Het
Zfp780b	A	G	7: 27,963,163	F656L	possibly damaging	Het
Zfp995	A	T	17: 21,880,660	F198I	probably benign	Het
Zswim8	A	T	14: 20,721,484	Y1495F	probably damaging	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	synonymous	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
R5155:Cyb5r4	UTSW	9	87040403	missense	probably benign	0.08
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
R7662:Cyb5r4	UTSW	9	87027038	missense	possibly damaging	0.83
R7748:Cyb5r4	UTSW	9	87032381	missense	probably damaging	1.00
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'- CAGCTTTCAAAACTGTTTTCACTGG -3'
(R):5'- ATAAAAGCCAGGTGCCCAG -3'

Sequencing Primer
(F):5'- TCAAAACTGTTTTCACTGGGAAAG -3'
(R):5'- CCAGGTGCCCAGAAAGG -3'

Posted On

2019-06-26