Incidental Mutation 'RF016:Cyb5r4'
ID |
603562 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyb5r4
|
Ensembl Gene |
ENSMUSG00000032872 |
Gene Name |
cytochrome b5 reductase 4 |
Synonyms |
Ncb5or, 2810034J18Rik, B5+B5R, b5/b5r |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
RF016 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
small insertion (8 aa in frame mutation) |
DNA Base Change (assembly) |
CCCAGGGA to CCCAGGGATGTGACAGACACACTGACCAGGGA
at 86922494 bp (GRCm39)
|
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: 98.7%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
TGCTGTGGC |
TGCTGTGGCGGCTGTGGC |
1: 82,891,298 (GRCm39) |
|
probably benign |
Het |
Abi3bp |
GCCCACGACCC |
GCCCACGACCCACGACCC |
16: 56,447,950 (GRCm39) |
|
probably null |
Het |
Amer3 |
A |
G |
1: 34,626,201 (GRCm39) |
I147V |
probably damaging |
Het |
Ankhd1 |
GGCGGC |
GGCGGCAGCGGC |
18: 36,693,962 (GRCm39) |
|
probably benign |
Het |
Ankhd1 |
GCGGCG |
GCGGCGACGGCG |
18: 36,693,963 (GRCm39) |
|
probably benign |
Het |
Ankzf1 |
G |
A |
1: 75,172,477 (GRCm39) |
R259H |
probably damaging |
Het |
Apol9b |
T |
C |
15: 77,619,714 (GRCm39) |
V170A |
probably benign |
Het |
Asb3 |
A |
G |
11: 31,011,407 (GRCm39) |
I267M |
possibly damaging |
Het |
Baz2a |
A |
G |
10: 127,961,185 (GRCm39) |
E1636G |
probably benign |
Het |
Birc6 |
G |
T |
17: 74,996,319 (GRCm39) |
V4513F |
probably damaging |
Het |
Blm |
CCTCCTCC |
CCTCCTCCTCCTACTCCTCC |
7: 80,162,674 (GRCm39) |
|
probably null |
Het |
Ccdc113 |
G |
A |
8: 96,264,733 (GRCm39) |
R81H |
probably benign |
Het |
Ccdc27 |
T |
C |
4: 154,120,567 (GRCm39) |
R410G |
probably benign |
Het |
Cdhr5 |
A |
G |
7: 140,852,097 (GRCm39) |
V435A |
possibly damaging |
Het |
Cercam |
T |
C |
2: 29,759,317 (GRCm39) |
S15P |
unknown |
Het |
Cntrl |
T |
C |
2: 35,009,998 (GRCm39) |
V224A |
probably benign |
Het |
Comtd1 |
T |
A |
14: 21,898,664 (GRCm39) |
Q56L |
probably benign |
Het |
Cul9 |
CCT |
CCTACT |
17: 46,811,789 (GRCm39) |
|
probably null |
Het |
Cyld |
T |
A |
8: 89,432,069 (GRCm39) |
Y22* |
probably null |
Het |
Dbt |
T |
C |
3: 116,333,363 (GRCm39) |
Y278H |
probably damaging |
Het |
Ddb1 |
A |
G |
19: 10,605,222 (GRCm39) |
H1070R |
probably damaging |
Het |
Dek |
G |
T |
13: 47,251,662 (GRCm39) |
S248* |
probably null |
Het |
Dixdc1 |
T |
C |
9: 50,604,941 (GRCm39) |
T300A |
probably benign |
Het |
Dusp8 |
A |
T |
7: 141,636,589 (GRCm39) |
S334T |
probably benign |
Het |
Efhd2 |
CCGCCG |
CCGCCGACGCCG |
4: 141,602,067 (GRCm39) |
|
probably benign |
Het |
Ehbp1 |
T |
C |
11: 22,096,646 (GRCm39) |
N306S |
probably benign |
Het |
Fcer1a |
T |
C |
1: 173,053,086 (GRCm39) |
I37V |
possibly damaging |
Het |
Fgfr2 |
G |
T |
7: 129,779,410 (GRCm39) |
Q639K |
probably benign |
Het |
Ftdc1 |
T |
A |
16: 58,437,230 (GRCm39) |
N26I |
probably damaging |
Het |
Gab3 |
CTT |
CTTATT |
X: 74,043,591 (GRCm39) |
|
probably null |
Het |
Gins4 |
T |
C |
8: 23,722,626 (GRCm39) |
M98V |
probably benign |
Het |
Gm8369 |
GTGTGTGT |
GTGTGTGTTTGTGTGT |
19: 11,489,118 (GRCm39) |
|
probably null |
Het |
Grik1 |
G |
A |
16: 87,831,074 (GRCm39) |
S232L |
|
Het |
Gsg1l |
A |
G |
7: 125,619,794 (GRCm39) |
|
probably null |
Het |
H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
H2-DMb1 |
A |
T |
17: 34,376,360 (GRCm39) |
S160C |
probably damaging |
Het |
Hsdl2 |
GCAGCCACAGCTGCAG |
GCAGCCACAGCTGCAGCATCAGCCACAGCTGCAG |
4: 59,610,643 (GRCm39) |
|
probably benign |
Het |
Iqcf4 |
TTTCCTTTTCCTTTT |
TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTGTTCCTTTTCCTTTT |
9: 106,447,808 (GRCm39) |
|
probably benign |
Het |
Jag1 |
T |
A |
2: 136,938,176 (GRCm39) |
T275S |
probably benign |
Het |
Klhdc2 |
T |
A |
12: 69,350,660 (GRCm39) |
I158K |
probably damaging |
Het |
Krtap28-10 |
TCCC |
TCCCGCACCC |
1: 83,019,844 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,339,549 (GRCm39) |
M1121L |
probably benign |
Het |
M6pr |
C |
T |
6: 122,292,124 (GRCm39) |
A152V |
probably damaging |
Het |
Mapkapk5 |
T |
C |
5: 121,671,379 (GRCm39) |
Y218C |
probably damaging |
Het |
Mkrn1 |
C |
T |
6: 39,396,925 (GRCm39) |
V26I |
|
Het |
Mro |
CA |
CAAACTCGGA |
18: 74,003,035 (GRCm39) |
|
probably null |
Het |
Mrpl3 |
T |
C |
9: 104,952,452 (GRCm39) |
V303A |
probably benign |
Het |
Nefh |
CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,022 (GRCm39) |
|
probably benign |
Het |
Nefh |
TCACCTGGGGACT |
TCACCTGGGGACTCGGCCCCACCTGGGGACT |
11: 4,891,023 (GRCm39) |
|
probably benign |
Het |
Nid2 |
GGCTAACACCGC |
GGC |
14: 19,801,431 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
CAAGCTGAGA |
CAAGCTGAGATACACGTTAGCAGTGAGGAGAAAGCTGAGA |
2: 119,458,082 (GRCm39) |
|
probably benign |
Het |
Or10n7-ps1 |
A |
ATAGG |
9: 39,598,050 (GRCm39) |
|
probably null |
Het |
Or6d12 |
G |
T |
6: 116,493,004 (GRCm39) |
A89S |
probably benign |
Het |
Ovol1 |
A |
G |
19: 5,603,640 (GRCm39) |
V87A |
probably benign |
Het |
Pdpk1 |
T |
A |
17: 24,312,255 (GRCm39) |
E290D |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,350,174 (GRCm39) |
S340T |
probably benign |
Het |
Pknox2 |
ACACACACACACACACTCAC |
ACAC |
9: 36,820,905 (GRCm39) |
|
probably benign |
Het |
Pou3f1 |
GC |
GCGGCGCC |
4: 124,551,602 (GRCm39) |
|
probably benign |
Het |
Prp2 |
AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
AGAGACCCCCTCAAGGCCCACCACC |
6: 132,577,475 (GRCm39) |
|
probably benign |
Het |
Prpf6 |
A |
G |
2: 181,273,869 (GRCm39) |
M338V |
probably benign |
Het |
Psg28 |
G |
T |
7: 18,156,847 (GRCm39) |
L463I |
probably damaging |
Het |
Ptprd |
T |
C |
4: 76,046,892 (GRCm39) |
D211G |
probably benign |
Het |
Pus1 |
T |
C |
5: 110,924,424 (GRCm39) |
H160R |
not run |
Het |
Ranbp17 |
T |
C |
11: 33,279,511 (GRCm39) |
T582A |
probably damaging |
Het |
Rasa1 |
G |
A |
13: 85,371,607 (GRCm39) |
T878I |
possibly damaging |
Het |
Rbm20 |
A |
G |
19: 53,802,163 (GRCm39) |
T224A |
probably benign |
Het |
Scgb1b12 |
A |
T |
7: 32,033,920 (GRCm39) |
N60I |
probably damaging |
Het |
Sh3bp4 |
T |
C |
1: 89,072,744 (GRCm39) |
S531P |
probably benign |
Het |
Sh3pxd2b |
TGCCTG |
TGCCTGCGCCTG |
11: 32,373,053 (GRCm39) |
|
probably benign |
Het |
Snrnp200 |
T |
C |
2: 127,072,476 (GRCm39) |
L1291P |
probably damaging |
Het |
Spmap2l |
CTCCCCAGTCCCGCAAGGCCAG |
CTCCCCAGTCCCGCAAGGCCAGCGATCATCCCCAGTCCCGCAAGGCCAG |
5: 77,164,255 (GRCm39) |
|
probably benign |
Het |
Sppl2a |
C |
T |
2: 126,769,694 (GRCm39) |
R54Q |
probably benign |
Het |
Sulf2 |
A |
T |
2: 165,924,523 (GRCm39) |
L521Q |
probably benign |
Het |
Supv3l1 |
C |
A |
10: 62,273,287 (GRCm39) |
V317F |
possibly damaging |
Het |
Tcof1 |
TCC |
TCCACTTGGCTGCTGAGATGGGCACTTTCCCAGAGACCC |
18: 60,966,647 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
TGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,138 (GRCm39) |
|
probably benign |
Het |
Unc13b |
CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CAGAGCCAGAGCCAGAGCGAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,347 (GRCm39) |
|
probably benign |
Het |
Unc13b |
AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
AGCCAGAGCCAGAGCCAGCGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,350 (GRCm39) |
|
probably benign |
Het |
Usp38 |
A |
G |
8: 81,740,522 (GRCm39) |
S182P |
probably benign |
Het |
Vmn2r24 |
T |
C |
6: 123,781,174 (GRCm39) |
V460A |
probably benign |
Het |
Wdr97 |
A |
T |
15: 76,240,172 (GRCm39) |
I331F |
|
Het |
Zfp598 |
CAACCAC |
CAACCACAACCAC |
17: 24,899,745 (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 |
|
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 |
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 |
86,922,494 (GRCm39) |
small insertion |
probably benign |
|
RF006:Cyb5r4
|
UTSW |
9 |
86,922,478 (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 |
86,922,478 (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'- CACTGGGAGAGAGTAAGCTTTTGG -3'
(R):5'- CTGCATCTGATAAATGAGGTACTGC -3'
Sequencing Primer
(F):5'- AAAATGCTGGTGACAAGGGTTTCTC -3'
(R):5'- CTGATAAATGAGGTACTGCAGTTCG -3'
|
Posted On |
2019-12-04 |