Incidental Mutation 'R1870:Cyb5r4'
ID |
210663 |
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 |
039892-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1870 (G1)
|
Quality Score |
224 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86922462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 157
(D157G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168529]
|
AlphaFold |
Q3TDX8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168529
AA Change: D157G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000126119 Gene: ENSMUSG00000032872 AA Change: D157G
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.1%
|
Validation Efficiency |
97% (96/99) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,242,134 (GRCm39) |
E1332D |
probably benign |
Het |
Abca5 |
C |
A |
11: 110,220,043 (GRCm39) |
V8L |
probably benign |
Het |
Abcc8 |
C |
T |
7: 45,773,339 (GRCm39) |
E797K |
probably benign |
Het |
Acd |
C |
A |
8: 106,425,039 (GRCm39) |
|
probably null |
Het |
Adam34l |
A |
T |
8: 44,078,132 (GRCm39) |
Y697* |
probably null |
Het |
Adamts12 |
T |
C |
15: 11,311,240 (GRCm39) |
S1166P |
probably benign |
Het |
Alox12b |
T |
C |
11: 69,049,199 (GRCm39) |
Y83H |
possibly damaging |
Het |
Antxr2 |
A |
T |
5: 98,178,297 (GRCm39) |
S38T |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,115,262 (GRCm39) |
E749G |
probably damaging |
Het |
Arpc1a |
T |
A |
5: 145,043,901 (GRCm39) |
C344S |
possibly damaging |
Het |
Bcan |
T |
C |
3: 87,902,908 (GRCm39) |
Y290C |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,991,018 (GRCm39) |
S179F |
possibly damaging |
Het |
Catsper3 |
A |
C |
13: 55,953,561 (GRCm39) |
D224A |
probably damaging |
Het |
Ccar2 |
A |
G |
14: 70,377,946 (GRCm39) |
S680P |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,368,703 (GRCm39) |
H1275R |
possibly damaging |
Het |
Ccdc40 |
T |
C |
11: 119,150,730 (GRCm39) |
M1011T |
possibly damaging |
Het |
Cfap46 |
T |
A |
7: 139,263,386 (GRCm39) |
D17V |
probably damaging |
Het |
Csn1s2a |
T |
C |
5: 87,926,058 (GRCm39) |
F45L |
probably benign |
Het |
Cwf19l2 |
T |
G |
9: 3,458,802 (GRCm39) |
N750K |
possibly damaging |
Het |
D130040H23Rik |
T |
A |
8: 69,755,354 (GRCm39) |
I253N |
probably benign |
Het |
Dennd4a |
C |
T |
9: 64,804,516 (GRCm39) |
A1285V |
probably benign |
Het |
Dlat |
A |
G |
9: 50,548,874 (GRCm39) |
S561P |
probably damaging |
Het |
Dlgap2 |
T |
A |
8: 14,823,347 (GRCm39) |
V522E |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,331,859 (GRCm39) |
Y2148* |
probably null |
Het |
Dnase2a |
T |
C |
8: 85,635,392 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
A |
G |
5: 9,468,007 (GRCm39) |
E225G |
probably damaging |
Het |
Fam83f |
T |
C |
15: 80,574,113 (GRCm39) |
|
probably benign |
Het |
Firrm |
G |
A |
1: 163,792,363 (GRCm39) |
L545F |
probably damaging |
Het |
Foxi1 |
A |
T |
11: 34,157,937 (GRCm39) |
N29K |
possibly damaging |
Het |
Galk2 |
T |
C |
2: 125,817,183 (GRCm39) |
L324P |
probably benign |
Het |
Gdpd4 |
G |
A |
7: 97,622,162 (GRCm39) |
V214I |
probably benign |
Het |
Gfra3 |
C |
T |
18: 34,844,373 (GRCm39) |
A56T |
probably damaging |
Het |
Glyctk |
A |
G |
9: 106,032,547 (GRCm39) |
S489P |
probably damaging |
Het |
Izumo4 |
A |
T |
10: 80,539,569 (GRCm39) |
I135F |
probably damaging |
Het |
Krt87 |
T |
A |
15: 101,385,071 (GRCm39) |
T342S |
probably benign |
Het |
L1td1 |
T |
A |
4: 98,625,714 (GRCm39) |
D636E |
possibly damaging |
Het |
Letm2 |
A |
G |
8: 26,086,460 (GRCm39) |
|
probably benign |
Het |
Lpin1 |
A |
G |
12: 16,591,744 (GRCm39) |
F828L |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,511,431 (GRCm39) |
D179G |
unknown |
Het |
Mdn1 |
T |
A |
4: 32,763,339 (GRCm39) |
D5146E |
probably damaging |
Het |
Megf10 |
T |
A |
18: 57,324,257 (GRCm39) |
Y99* |
probably null |
Het |
Men1 |
A |
G |
19: 6,387,660 (GRCm39) |
D285G |
probably damaging |
Het |
Mertk |
T |
G |
2: 128,643,116 (GRCm39) |
D838E |
probably benign |
Het |
Mta1 |
T |
C |
12: 113,091,694 (GRCm39) |
S266P |
possibly damaging |
Het |
Mta3 |
G |
A |
17: 84,089,397 (GRCm39) |
V320M |
probably damaging |
Het |
Nlrp9c |
G |
A |
7: 26,084,245 (GRCm39) |
Q445* |
probably null |
Het |
Or2m12 |
A |
T |
16: 19,105,357 (GRCm39) |
N45K |
probably damaging |
Het |
Or51e1 |
T |
C |
7: 102,358,961 (GRCm39) |
I165T |
possibly damaging |
Het |
Or8b38 |
A |
T |
9: 37,972,646 (GRCm39) |
K10I |
probably benign |
Het |
Or8d6 |
T |
G |
9: 39,854,117 (GRCm39) |
I187R |
probably damaging |
Het |
Pbrm1 |
T |
A |
14: 30,828,132 (GRCm39) |
L1320I |
probably damaging |
Het |
Pdzd2 |
G |
T |
15: 12,457,972 (GRCm39) |
T297K |
probably damaging |
Het |
Pfas |
T |
C |
11: 68,882,795 (GRCm39) |
D782G |
probably damaging |
Het |
Pik3c3 |
T |
C |
18: 30,426,185 (GRCm39) |
|
probably null |
Het |
Pira2 |
T |
C |
7: 3,847,452 (GRCm39) |
N79S |
probably damaging |
Het |
Pkdrej |
G |
T |
15: 85,700,632 (GRCm39) |
T1768K |
probably damaging |
Het |
Plcb3 |
T |
C |
19: 6,940,353 (GRCm39) |
I439V |
probably benign |
Het |
Pold4 |
T |
A |
19: 4,282,593 (GRCm39) |
Y58* |
probably null |
Het |
Ppef2 |
T |
G |
5: 92,398,371 (GRCm39) |
Q49P |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,723,817 (GRCm39) |
I2026F |
possibly damaging |
Het |
Rest |
T |
A |
5: 77,416,209 (GRCm39) |
V141E |
possibly damaging |
Het |
Rnf139 |
T |
C |
15: 58,771,202 (GRCm39) |
V409A |
probably benign |
Het |
Rnpc3 |
T |
C |
3: 113,404,704 (GRCm39) |
|
probably benign |
Het |
S100a10 |
A |
T |
3: 93,468,377 (GRCm39) |
E36V |
probably benign |
Het |
S1pr3 |
A |
C |
13: 51,573,952 (GRCm39) |
K378Q |
probably benign |
Het |
Scaper |
T |
A |
9: 55,593,222 (GRCm39) |
I472F |
probably damaging |
Het |
Sgcg |
G |
A |
14: 61,477,896 (GRCm39) |
|
probably benign |
Het |
Shank1 |
A |
T |
7: 43,991,539 (GRCm39) |
R69* |
probably null |
Het |
Shoc1 |
G |
A |
4: 59,054,142 (GRCm39) |
|
probably benign |
Het |
Siglecf |
A |
G |
7: 43,004,967 (GRCm39) |
N399S |
probably benign |
Het |
Slc25a54 |
T |
A |
3: 108,987,932 (GRCm39) |
Y24* |
probably null |
Het |
Slc29a4 |
T |
C |
5: 142,707,243 (GRCm39) |
*529R |
probably null |
Het |
Slc41a2 |
G |
A |
10: 83,137,029 (GRCm39) |
Q293* |
probably null |
Het |
Slc4a7 |
T |
C |
14: 14,737,509 (GRCm38) |
|
probably null |
Het |
Slfn9 |
G |
T |
11: 82,872,402 (GRCm39) |
T778N |
probably benign |
Het |
Ssr2 |
T |
C |
3: 88,483,949 (GRCm39) |
|
probably benign |
Het |
Tecrl |
T |
A |
5: 83,502,706 (GRCm39) |
T33S |
probably benign |
Het |
Tnfrsf9 |
T |
A |
4: 151,018,804 (GRCm39) |
C158* |
probably null |
Het |
Tradd |
T |
C |
8: 105,985,792 (GRCm39) |
E253G |
possibly damaging |
Het |
Usp34 |
A |
G |
11: 23,314,479 (GRCm39) |
H807R |
probably benign |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r27 |
T |
C |
6: 124,201,170 (GRCm39) |
I262M |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,737,316 (GRCm39) |
V91A |
probably damaging |
Het |
Vwf |
C |
T |
6: 125,619,902 (GRCm39) |
R1527C |
probably damaging |
Het |
Wwc1 |
C |
T |
11: 35,752,772 (GRCm39) |
G763D |
probably damaging |
Het |
Zfp526 |
T |
G |
7: 24,924,594 (GRCm39) |
D284E |
possibly damaging |
Het |
Zfp646 |
T |
C |
7: 127,483,021 (GRCm39) |
F1733L |
possibly damaging |
Het |
Zfp90 |
A |
G |
8: 107,145,755 (GRCm39) |
H29R |
probably benign |
Het |
Zkscan4 |
A |
G |
13: 21,668,104 (GRCm39) |
E185G |
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 |
|
R1510:Cyb5r4
|
UTSW |
9 |
86,948,696 (GRCm39) |
intron |
probably benign |
|
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 |
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'- AGTCACAGTAATGGCTACCACTG -3'
(R):5'- CGCTAAGCAAGACTGACTGG -3'
Sequencing Primer
(F):5'- TACCACTGGGAGAGAGTAAGCTTTTG -3'
(R):5'- CTGGCCGGAAGCAGTAAACC -3'
|
Posted On |
2014-06-30 |