Mutagenetix > Incidental Mutation

Incidental Mutation 'RF036:Cyb5r4'

604587

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 #

RF036 (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)

CAGACACACTGCC to CAGACACACTGCCTAGGGATGTGATAGACACACTGCC at 87040430 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: 99.3%
20x: 98.5%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	TCCCTG	17: 24,287,727		probably benign	Het
Acap3	G	GGGCTGCATCCTGGGC	4: 155,905,087		probably benign	Het
Adgra3	GGCCGC	GGC	5: 50,058,641		probably benign	Het
Blm	CCTCCTCCTCCT	CCTCCTCCTCCTACTCCTCCTCCT	7: 80,512,914		probably null	Het
Calhm1	C	CTGTGGCTGTGGG	19: 47,141,277		probably benign	Het
Cdx1	CTGCTG	CTGCTGTTGCTG	18: 61,019,870		probably benign	Het
Cherp	ACCTGGACC	AC	8: 72,462,044		probably null	Het
Cherp	TGGACC	T	8: 72,462,047		probably null	Het
Dcdc2b	GCTGC	GCTGCCAGGCCTGC	4: 129,609,651		probably benign	Het
Fam171b	GCAGC	GCAGCAACAGC	2: 83,812,892		probably benign	Het
Foxd3	GGACCCTACGGCCG	GG	4: 99,657,396		probably benign	Het
Fsip2	TTTT	TTTTTCTTT	2: 82,984,363		probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,778		probably benign	Het
Il2	GTGG	GTGGGGCTTGAATTGG	3: 37,125,827		probably benign	Het
Iqcf4	TCCTTTTCCTTTT	TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTT	9: 106,570,611		probably benign	Het
Ivl	TGCTGCTGCTGCTGC	T	3: 92,572,341		probably null	Het
Kif12	C	CCTCCACCCGGCGGGT	4: 63,171,427		probably benign	Het
Lkaaear1	CCAGCTCCAGCT	CCAGCTCCAGCTACAGCTCCAGCT	2: 181,697,588		probably benign	Het
Lrtm1	TAGCCTCAGTGGCC	T	14: 29,021,443		probably null	Het
Mamld1	CAG	CAGGAG	X: 71,118,828		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,835		probably benign	Het
Mamld1	CAG	CAGAAG	X: 71,118,840		probably benign	Het
Morn4	GTGAG	GTGAGTCAGGCAATGAG	19: 42,076,114		probably null	Het
Nefh	TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,010		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,016		probably benign	Het
Nefh	TGGCCTC	TGGCCTCGCCTGGGGACTGGGCCTC	11: 4,941,036		probably benign	Het
Nefh	GGGAC	GGGACGTGGCATCACCTGTGGAC	11: 4,941,048		probably benign	Het
Nusap1	TTAGCAGTGAGGAGCA	TTAGCAGTGAGGAGCACGCTGAGATACACGCTAGCAGTGAGGAGCA	2: 119,627,587		probably benign	Het
Nusap1	TGAGGAGCAAGCTGAGA	TGAGGAGCAAGCTGAGATACACGTTAGCAGGGAGGAGCAAGCTGAGA	2: 119,627,594		probably benign	Het
Olfr418	GTGACATC	G	1: 173,270,709		probably null	Het
Phc1	CTTGCTG	CTTGCTGTTGCTG	6: 122,323,580		probably benign	Het
Rassf6	TCATGGTCCTGTAGAGCAATGGGGATTC	TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,915		probably benign	Het
Rnf144a	TCTCTCTCTC	TCTCTCTCTCTCTCTCACTCTCTCTC	12: 26,314,008		probably benign	Het
Rnf144a	CTCTC	CTCTCTCTCTCTCTCTATCTC	12: 26,314,013		probably benign	Het
Rpgrip1	AGAGGAAG	A	14: 52,149,541		probably null	Het
Rsf1	CG	CGATG	7: 97,579,908		probably benign	Het
Setd1a	GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	GTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,785,300		probably benign	Het
Stat1	G	T	1: 52,152,260	E591D	probably benign	Het
Strn	CTTACCCCAGTC	CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCATTACCCCAGTC	17: 78,677,277		probably null	Het
Tcof1	CT	CTAGT	18: 60,828,408		probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,835,736		probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,103		probably benign	Het
Thegl	G	GCGATCCTCCCCAGTCCCGCAAGGCCAT	5: 77,016,429		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973		probably benign	Het
Trappc9	GCTGCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCTGCT	15: 72,801,320		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,306,945		probably benign	Het
Usp2	ACTTAC	ACTTACTCATGTGACCCGTTCTTCCCTTAC	9: 44,089,124		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
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
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
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'- CTACCACTGGGAGAGAGTAAGC -3'
(R):5'- TAAATGAGGTACTGCAGTTCGTG -3'

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

Posted On

2019-12-04