Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Cyb5r4'

603345

Institutional Source

Beutler Lab

Gene Symbol

Cyb5r4

Ensembl Gene

ENSMUSG00000032872

Gene Name

cytochrome b5 reductase 4

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF013 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

87022014-87077774 bp(+) (GRCm38)

Type of Mutation

small insertion (8 aa in frame mutation)

DNA Base Change (assembly)

GACACACTGCCCAGGGA to GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA at 87040432 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126119 (fasta)

Gene Model

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

AlphaFold

Q3TDX8

Predicted Effect

probably benign
Transcript: ENSMUST00000168529

SMART Domains

Protein: ENSMUSP00000126119
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	4.1e-16	PFAM
Pfam:FAD_binding_6	284	391	4.1e-22	PFAM
Pfam:NAD_binding_1	402	508	4.7e-18	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	G	19: 58,789,294	F28S	probably damaging	Het
4930435E12Rik	T	C	16: 38,828,001	T249A	probably benign	Het
4932438A13Rik	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096		probably benign	Het
Adamts9	A	G	6: 92,943,145	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232		probably benign	Het
Alk	A	G	17: 71,895,936	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926		probably benign	Het
Ano3	A	C	2: 110,697,036	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830		probably null	Het
Card6	T	C	15: 5,100,142	I591V	probably benign	Het
Ccdc18	A	G	5: 108,220,716	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597		probably null	Het
Cyp8b1	A	T	9: 121,915,495	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831		probably benign	Het
Ercc6l2	A	T	13: 63,853,017	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895		probably benign	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Flvcr2	T	A	12: 85,747,186	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416		probably benign	Het
Gm4884	C	A	7: 41,040,809	P43Q	probably damaging	Het
Gm6588	T	A	5: 112,450,071	N161K	probably benign	Het
Grm8	A	G	6: 27,363,780	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343		probably benign	Het
Kif18b	T	C	11: 102,912,366	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274		probably benign	Het
Lama1	C	A	17: 67,781,062	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836		probably null	Het
Lmna	A	G	3: 88,484,054	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260		probably null	Het
Mboat7	T	A	7: 3,691,857	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966		probably benign	Het
Morc2a	T	A	11: 3,676,191	M225K	probably benign	Het
Mpdz	G	A	4: 81,293,592	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myo10	T	A	15: 25,799,479	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032		probably benign	Het
Numa1	T	C	7: 101,999,780	L906P	probably damaging	Het
Olfr750	G	A	14: 51,071,012	A127V	probably damaging	Het
Olfr871	T	C	9: 20,212,894	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813	Q62L	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180		probably benign	Het
Rsrp1	T	A	4: 134,923,955	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388		probably null	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Slc6a15	T	A	10: 103,400,216	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211		probably benign	Het
Sost	A	T	11: 101,964,132	I117N	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774		probably null	Het
Tcaf1	C	T	6: 42,679,173	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743		probably benign	Het
Tgfbr1	A	G	4: 47,353,354	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338	V220A	probably benign	Het
Zan	T	A	5: 137,391,720	Q4830L	unknown	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
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
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
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'- CACTGGGAGAGAGTAAGCTTTTG -3'
(R):5'- ATAAATGAGGTACTGCAGTTCGTG -3'

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

Posted On

2019-12-04