Incidental Mutation 'R1510:Cyb5r4'
ID |
167858 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyb5r4
|
Ensembl Gene |
ENSMUSG00000032872 |
Gene Name |
cytochrome b5 reductase 4 |
Synonyms |
Ncb5or, 2810034J18Rik, B5+B5R, b5/b5r |
MMRRC Submission |
039557-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1510 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 86948696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133918
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168529]
[ENSMUST00000174294]
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174043
|
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 |
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
100% (79/79) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
G |
15: 91,073,181 (GRCm39) |
L326S |
probably damaging |
Het |
Adam18 |
T |
A |
8: 25,115,847 (GRCm39) |
T616S |
probably benign |
Het |
Adam22 |
T |
C |
5: 8,202,408 (GRCm39) |
K215E |
probably benign |
Het |
Ahi1 |
T |
G |
10: 20,835,699 (GRCm39) |
S11A |
probably benign |
Het |
Asb18 |
T |
C |
1: 89,923,976 (GRCm39) |
M96V |
possibly damaging |
Het |
Baz2b |
T |
C |
2: 59,752,553 (GRCm39) |
D1149G |
probably damaging |
Het |
C1qtnf3 |
A |
G |
15: 10,975,722 (GRCm39) |
E176G |
probably benign |
Het |
Cd151 |
T |
A |
7: 141,050,280 (GRCm39) |
S172T |
probably benign |
Het |
Cdh2 |
G |
T |
18: 16,781,651 (GRCm39) |
L90I |
probably benign |
Het |
Cdkl3 |
T |
C |
11: 51,924,341 (GRCm39) |
V55A |
possibly damaging |
Het |
Cfap90 |
T |
A |
13: 68,745,596 (GRCm39) |
M1K |
probably null |
Het |
Chst8 |
T |
A |
7: 34,374,693 (GRCm39) |
H382L |
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,950,209 (GRCm39) |
D264G |
possibly damaging |
Het |
Daam1 |
A |
G |
12: 72,024,500 (GRCm39) |
M814V |
probably damaging |
Het |
Ddx19b |
A |
G |
8: 111,742,285 (GRCm39) |
I150T |
probably damaging |
Het |
Dync1li1 |
T |
G |
9: 114,518,278 (GRCm39) |
S50A |
possibly damaging |
Het |
Fat3 |
A |
T |
9: 15,871,351 (GRCm39) |
L3680Q |
probably damaging |
Het |
Fermt1 |
C |
T |
2: 132,766,942 (GRCm39) |
E342K |
probably benign |
Het |
Gm21286 |
T |
G |
4: 60,794,931 (GRCm39) |
|
noncoding transcript |
Het |
Il6 |
T |
C |
5: 30,223,060 (GRCm39) |
Y126H |
probably damaging |
Het |
Inhba |
G |
T |
13: 16,201,607 (GRCm39) |
V390L |
probably damaging |
Het |
Ino80 |
C |
T |
2: 119,280,530 (GRCm39) |
R278H |
probably damaging |
Het |
Jade3 |
T |
G |
X: 20,384,057 (GRCm39) |
N799K |
probably benign |
Het |
Kcnn1 |
G |
A |
8: 71,316,714 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,765,848 (GRCm39) |
T585A |
probably damaging |
Het |
Kmt2d |
T |
A |
15: 98,754,258 (GRCm39) |
|
probably benign |
Het |
Krt17 |
C |
T |
11: 100,148,365 (GRCm39) |
E359K |
possibly damaging |
Het |
Lce1b |
T |
G |
3: 92,563,283 (GRCm39) |
R83S |
unknown |
Het |
Lck |
T |
C |
4: 129,449,461 (GRCm39) |
S290G |
possibly damaging |
Het |
Ltbp3 |
T |
C |
19: 5,798,915 (GRCm39) |
S544P |
probably benign |
Het |
Lypd6b |
T |
A |
2: 49,824,831 (GRCm39) |
S4R |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,328,555 (GRCm39) |
D4724G |
probably null |
Het |
Mcoln2 |
A |
G |
3: 145,882,365 (GRCm39) |
T255A |
probably benign |
Het |
Mcph1 |
T |
A |
8: 18,682,703 (GRCm39) |
|
probably null |
Het |
Mki67 |
C |
A |
7: 135,297,900 (GRCm39) |
R2378L |
probably benign |
Het |
Mxd1 |
A |
G |
6: 86,630,137 (GRCm39) |
V27A |
possibly damaging |
Het |
Myo5a |
T |
C |
9: 75,078,833 (GRCm39) |
Y864H |
probably benign |
Het |
Ndel1 |
A |
T |
11: 68,713,482 (GRCm39) |
N318K |
possibly damaging |
Het |
Oasl1 |
A |
G |
5: 115,066,167 (GRCm39) |
Q95R |
probably benign |
Het |
Or5ac16 |
A |
T |
16: 59,022,546 (GRCm39) |
M81K |
probably damaging |
Het |
Or5j3 |
T |
C |
2: 86,128,715 (GRCm39) |
L185P |
probably damaging |
Het |
Or5p57 |
T |
C |
7: 107,665,735 (GRCm39) |
Y60C |
probably damaging |
Het |
Or6b2b |
A |
T |
1: 92,419,339 (GRCm39) |
I46N |
probably damaging |
Het |
Parp10 |
T |
A |
15: 76,125,617 (GRCm39) |
Q487L |
probably damaging |
Het |
Pcdh10 |
C |
T |
3: 45,333,838 (GRCm39) |
R51C |
probably damaging |
Het |
Pdpr |
A |
T |
8: 111,851,107 (GRCm39) |
|
probably benign |
Het |
Pfpl |
A |
T |
19: 12,407,060 (GRCm39) |
D437V |
probably benign |
Het |
Pik3c2a |
G |
A |
7: 115,987,280 (GRCm39) |
T547I |
probably benign |
Het |
Pkdrej |
A |
C |
15: 85,700,963 (GRCm39) |
S1658A |
possibly damaging |
Het |
Pkn3 |
T |
C |
2: 29,969,776 (GRCm39) |
|
probably null |
Het |
Plekhh2 |
A |
G |
17: 84,867,004 (GRCm39) |
|
probably null |
Het |
Plxdc1 |
A |
T |
11: 97,823,150 (GRCm39) |
C357S |
probably damaging |
Het |
Pnp |
A |
G |
14: 51,188,042 (GRCm39) |
T132A |
possibly damaging |
Het |
Prorp |
A |
T |
12: 55,350,997 (GRCm39) |
Q102L |
probably benign |
Het |
Rcan2 |
A |
G |
17: 44,147,315 (GRCm39) |
D51G |
probably damaging |
Het |
Rcn1 |
T |
C |
2: 105,219,434 (GRCm39) |
N253S |
probably damaging |
Het |
Rreb1 |
T |
A |
13: 38,115,860 (GRCm39) |
I1073N |
probably benign |
Het |
Scaf4 |
G |
T |
16: 90,042,282 (GRCm39) |
D686E |
unknown |
Het |
Sfxn5 |
A |
C |
6: 85,213,907 (GRCm39) |
M221R |
probably damaging |
Het |
Slc38a1 |
A |
G |
15: 96,507,741 (GRCm39) |
F104L |
probably damaging |
Het |
Slc8a1 |
A |
T |
17: 81,955,547 (GRCm39) |
V497D |
probably damaging |
Het |
Spryd3 |
C |
A |
15: 102,027,396 (GRCm39) |
G290C |
probably damaging |
Het |
Stc2 |
A |
T |
11: 31,315,418 (GRCm39) |
Y140* |
probably null |
Het |
Stfa2 |
A |
T |
16: 36,228,673 (GRCm39) |
I8K |
possibly damaging |
Het |
Sult3a2 |
A |
T |
10: 33,658,026 (GRCm39) |
M29K |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Triobp |
G |
A |
15: 78,887,967 (GRCm39) |
R1908Q |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,802,828 (GRCm39) |
R7* |
probably null |
Het |
Ttn |
T |
C |
2: 76,782,501 (GRCm39) |
I912V |
probably benign |
Het |
Tusc2 |
T |
A |
9: 107,442,080 (GRCm39) |
V93E |
probably damaging |
Het |
Uhrf2 |
T |
A |
19: 30,016,461 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
G |
A |
17: 31,178,203 (GRCm39) |
V60M |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,380,501 (GRCm39) |
D2270V |
probably damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,005,553 (GRCm39) |
T397A |
possibly damaging |
Het |
Wbp2 |
A |
G |
11: 115,977,708 (GRCm39) |
V15A |
probably benign |
Het |
Zfp182 |
T |
A |
X: 20,896,446 (GRCm39) |
R617W |
probably damaging |
Het |
Zfp82 |
C |
A |
7: 29,756,047 (GRCm39) |
R345L |
probably damaging |
Het |
Zfp85 |
T |
C |
13: 67,903,084 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Cyb5r4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01833:Cyb5r4
|
APN |
9 |
86,941,505 (GRCm39) |
critical splice donor site |
probably null |
|
cello
|
UTSW |
9 |
86,911,591 (GRCm39) |
nonsense |
probably null |
|
viol
|
UTSW |
9 |
86,941,130 (GRCm39) |
critical splice donor site |
probably null |
|
PIT1430001:Cyb5r4
|
UTSW |
9 |
86,920,791 (GRCm39) |
missense |
probably benign |
|
R0040:Cyb5r4
|
UTSW |
9 |
86,948,795 (GRCm39) |
splice site |
probably null |
|
R0373:Cyb5r4
|
UTSW |
9 |
86,909,093 (GRCm39) |
missense |
probably damaging |
0.99 |
R0755:Cyb5r4
|
UTSW |
9 |
86,911,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R1381:Cyb5r4
|
UTSW |
9 |
86,904,286 (GRCm39) |
missense |
probably benign |
0.03 |
R1488:Cyb5r4
|
UTSW |
9 |
86,911,591 (GRCm39) |
nonsense |
probably null |
|
R1856:Cyb5r4
|
UTSW |
9 |
86,904,262 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1857:Cyb5r4
|
UTSW |
9 |
86,923,332 (GRCm39) |
missense |
probably benign |
0.00 |
R1858:Cyb5r4
|
UTSW |
9 |
86,923,332 (GRCm39) |
missense |
probably benign |
0.00 |
R1870:Cyb5r4
|
UTSW |
9 |
86,922,462 (GRCm39) |
missense |
probably benign |
0.00 |
R1876:Cyb5r4
|
UTSW |
9 |
86,937,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Cyb5r4
|
UTSW |
9 |
86,937,902 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2036:Cyb5r4
|
UTSW |
9 |
86,924,932 (GRCm39) |
splice site |
probably benign |
|
R2895:Cyb5r4
|
UTSW |
9 |
86,922,452 (GRCm39) |
nonsense |
probably null |
|
R4226:Cyb5r4
|
UTSW |
9 |
86,939,282 (GRCm39) |
missense |
probably damaging |
0.99 |
R4655:Cyb5r4
|
UTSW |
9 |
86,941,482 (GRCm39) |
missense |
probably benign |
0.01 |
R4971:Cyb5r4
|
UTSW |
9 |
86,939,224 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5038:Cyb5r4
|
UTSW |
9 |
86,941,130 (GRCm39) |
critical splice donor site |
probably null |
|
R5155:Cyb5r4
|
UTSW |
9 |
86,922,456 (GRCm39) |
missense |
probably benign |
0.08 |
R5187:Cyb5r4
|
UTSW |
9 |
86,909,001 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5654:Cyb5r4
|
UTSW |
9 |
86,929,533 (GRCm39) |
missense |
probably damaging |
0.98 |
R5659:Cyb5r4
|
UTSW |
9 |
86,937,881 (GRCm39) |
missense |
probably benign |
0.22 |
R5926:Cyb5r4
|
UTSW |
9 |
86,939,314 (GRCm39) |
missense |
probably benign |
0.04 |
R6083:Cyb5r4
|
UTSW |
9 |
86,939,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R6610:Cyb5r4
|
UTSW |
9 |
86,941,470 (GRCm39) |
missense |
probably benign |
|
R7311:Cyb5r4
|
UTSW |
9 |
86,937,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R7662:Cyb5r4
|
UTSW |
9 |
86,909,091 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7748:Cyb5r4
|
UTSW |
9 |
86,914,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R8171:Cyb5r4
|
UTSW |
9 |
86,924,863 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8253:Cyb5r4
|
UTSW |
9 |
86,941,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R8369:Cyb5r4
|
UTSW |
9 |
86,922,486 (GRCm39) |
missense |
probably benign |
0.00 |
R8816:Cyb5r4
|
UTSW |
9 |
86,904,286 (GRCm39) |
missense |
probably benign |
0.31 |
RF001:Cyb5r4
|
UTSW |
9 |
86,922,469 (GRCm39) |
small insertion |
probably benign |
|
RF006:Cyb5r4
|
UTSW |
9 |
86,922,478 (GRCm39) |
small insertion |
probably benign |
|
RF006:Cyb5r4
|
UTSW |
9 |
86,922,494 (GRCm39) |
small insertion |
probably benign |
|
RF013:Cyb5r4
|
UTSW |
9 |
86,922,485 (GRCm39) |
small insertion |
probably benign |
|
RF014:Cyb5r4
|
UTSW |
9 |
86,922,468 (GRCm39) |
small insertion |
probably benign |
|
RF015:Cyb5r4
|
UTSW |
9 |
86,922,491 (GRCm39) |
small insertion |
probably benign |
|
RF015:Cyb5r4
|
UTSW |
9 |
86,922,485 (GRCm39) |
small insertion |
probably benign |
|
RF016:Cyb5r4
|
UTSW |
9 |
86,922,497 (GRCm39) |
small insertion |
probably benign |
|
RF016:Cyb5r4
|
UTSW |
9 |
86,922,494 (GRCm39) |
small insertion |
probably benign |
|
RF016:Cyb5r4
|
UTSW |
9 |
86,922,478 (GRCm39) |
small insertion |
probably benign |
|
RF024:Cyb5r4
|
UTSW |
9 |
86,922,488 (GRCm39) |
small insertion |
probably benign |
|
RF025:Cyb5r4
|
UTSW |
9 |
86,922,497 (GRCm39) |
small insertion |
probably benign |
|
RF026:Cyb5r4
|
UTSW |
9 |
86,922,486 (GRCm39) |
small insertion |
probably benign |
|
RF027:Cyb5r4
|
UTSW |
9 |
86,922,484 (GRCm39) |
small insertion |
probably benign |
|
RF029:Cyb5r4
|
UTSW |
9 |
86,922,495 (GRCm39) |
small insertion |
probably benign |
|
RF029:Cyb5r4
|
UTSW |
9 |
86,922,483 (GRCm39) |
small insertion |
probably benign |
|
RF030:Cyb5r4
|
UTSW |
9 |
86,922,468 (GRCm39) |
small insertion |
probably benign |
|
RF030:Cyb5r4
|
UTSW |
9 |
86,922,462 (GRCm39) |
small insertion |
probably benign |
|
RF031:Cyb5r4
|
UTSW |
9 |
86,922,498 (GRCm39) |
small insertion |
probably benign |
|
RF032:Cyb5r4
|
UTSW |
9 |
86,922,466 (GRCm39) |
small insertion |
probably benign |
|
RF034:Cyb5r4
|
UTSW |
9 |
86,922,500 (GRCm39) |
nonsense |
probably null |
|
RF034:Cyb5r4
|
UTSW |
9 |
86,922,470 (GRCm39) |
small insertion |
probably benign |
|
RF036:Cyb5r4
|
UTSW |
9 |
86,922,483 (GRCm39) |
small insertion |
probably benign |
|
RF038:Cyb5r4
|
UTSW |
9 |
86,922,495 (GRCm39) |
small insertion |
probably benign |
|
RF040:Cyb5r4
|
UTSW |
9 |
86,922,462 (GRCm39) |
small insertion |
probably benign |
|
RF043:Cyb5r4
|
UTSW |
9 |
86,922,484 (GRCm39) |
small insertion |
probably benign |
|
RF043:Cyb5r4
|
UTSW |
9 |
86,922,464 (GRCm39) |
small insertion |
probably benign |
|
RF045:Cyb5r4
|
UTSW |
9 |
86,922,500 (GRCm39) |
small insertion |
probably benign |
|
RF045:Cyb5r4
|
UTSW |
9 |
86,922,455 (GRCm39) |
nonsense |
probably null |
|
RF052:Cyb5r4
|
UTSW |
9 |
86,922,475 (GRCm39) |
small insertion |
probably benign |
|
RF053:Cyb5r4
|
UTSW |
9 |
86,922,475 (GRCm39) |
small insertion |
probably benign |
|
RF055:Cyb5r4
|
UTSW |
9 |
86,922,491 (GRCm39) |
small insertion |
probably benign |
|
RF055:Cyb5r4
|
UTSW |
9 |
86,922,467 (GRCm39) |
small insertion |
probably benign |
|
RF056:Cyb5r4
|
UTSW |
9 |
86,922,463 (GRCm39) |
small insertion |
probably benign |
|
RF059:Cyb5r4
|
UTSW |
9 |
86,922,498 (GRCm39) |
small insertion |
probably benign |
|
RF060:Cyb5r4
|
UTSW |
9 |
86,922,466 (GRCm39) |
small insertion |
probably benign |
|
RF061:Cyb5r4
|
UTSW |
9 |
86,922,488 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCAAGGCTAATCCTTACATTGCCC -3'
(R):5'- AGATTTCAGTGTGTGACAGCACGG -3'
Sequencing Primer
(F):5'- CAGCAAAACCAATCCTTGGTG -3'
(R):5'- CCCAAGTGCTCTCTGTGAG -3'
|
Posted On |
2014-04-13 |