Incidental Mutation 'R2895:Cyb5r4'
ID |
260749 |
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 |
040483-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2895 (G1)
|
Quality Score |
206 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 86922452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 154
(Q154*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168529]
|
AlphaFold |
Q3TDX8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000168529
AA Change: Q154*
|
SMART Domains |
Protein: ENSMUSP00000126119 Gene: ENSMUSG00000032872 AA Change: Q154*
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
G |
11: 110,093,252 (GRCm39) |
V1007A |
probably benign |
Het |
Abhd14b |
C |
T |
9: 106,327,313 (GRCm39) |
R32C |
probably benign |
Het |
Akirin1 |
T |
C |
4: 123,631,864 (GRCm39) |
E168G |
probably damaging |
Het |
Apol7e |
A |
T |
15: 77,598,667 (GRCm39) |
D44V |
possibly damaging |
Het |
Asic1 |
A |
G |
15: 99,594,483 (GRCm39) |
I310V |
probably benign |
Het |
Atp6v0a1 |
A |
G |
11: 100,935,424 (GRCm39) |
H661R |
probably benign |
Het |
Caskin1 |
A |
G |
17: 24,708,016 (GRCm39) |
R25G |
probably damaging |
Het |
Cd96 |
G |
T |
16: 45,938,168 (GRCm39) |
T99K |
probably benign |
Het |
Cep250 |
C |
A |
2: 155,834,042 (GRCm39) |
A1989D |
probably benign |
Het |
Clasp1 |
T |
G |
1: 118,387,568 (GRCm39) |
V78G |
probably damaging |
Het |
Cmklr2 |
T |
A |
1: 63,222,321 (GRCm39) |
I305L |
probably benign |
Het |
Col15a1 |
T |
C |
4: 47,312,091 (GRCm39) |
V1302A |
possibly damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dnah7b |
T |
C |
1: 46,178,901 (GRCm39) |
F858S |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
Igkv1-135 |
T |
A |
6: 67,587,332 (GRCm39) |
S68T |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,741,820 (GRCm39) |
|
probably benign |
Het |
Lonp1 |
A |
G |
17: 56,922,562 (GRCm39) |
L688P |
probably damaging |
Het |
Lpar6 |
A |
G |
14: 73,476,716 (GRCm39) |
K226E |
probably damaging |
Het |
Map3k19 |
T |
C |
1: 127,749,835 (GRCm39) |
D968G |
possibly damaging |
Het |
Med16 |
G |
A |
10: 79,739,005 (GRCm39) |
|
probably null |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mrps7 |
A |
G |
11: 115,495,865 (GRCm39) |
M98V |
probably benign |
Het |
Ms4a14 |
A |
T |
19: 11,281,595 (GRCm39) |
I321N |
possibly damaging |
Het |
Muc5ac |
A |
G |
7: 141,344,877 (GRCm39) |
D116G |
possibly damaging |
Het |
Neu1 |
A |
G |
17: 35,151,758 (GRCm39) |
D184G |
probably benign |
Het |
Nolc1 |
CCAGCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,069,791 (GRCm39) |
|
probably benign |
Het |
Or11h23 |
T |
C |
14: 50,947,973 (GRCm39) |
F62S |
probably damaging |
Het |
Pcdh19 |
CTGTCTCCTCCA |
C |
X: 132,582,057 (GRCm39) |
|
probably null |
Het |
Pcdh19 |
TGTCTCCTCCACGTC |
TGTC |
X: 132,582,058 (GRCm39) |
|
probably null |
Het |
Plcz1 |
A |
G |
6: 139,968,877 (GRCm39) |
I187T |
possibly damaging |
Het |
Pot1b |
A |
T |
17: 55,994,939 (GRCm39) |
I241N |
probably damaging |
Het |
Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
Ptpre |
G |
A |
7: 135,245,587 (GRCm39) |
W11* |
probably null |
Het |
Rgsl1 |
T |
A |
1: 153,703,294 (GRCm39) |
E154V |
probably damaging |
Het |
Rnasel |
T |
C |
1: 153,636,522 (GRCm39) |
I634T |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,490,467 (GRCm39) |
S492T |
probably benign |
Het |
Sec24d |
T |
A |
3: 123,136,800 (GRCm39) |
V511E |
probably damaging |
Het |
Slc7a1 |
A |
G |
5: 148,277,402 (GRCm39) |
I371T |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,788,366 (GRCm39) |
|
probably benign |
Het |
Sntg2 |
A |
T |
12: 30,276,845 (GRCm39) |
S402R |
probably benign |
Het |
Stfa3 |
C |
A |
16: 36,272,522 (GRCm39) |
L59F |
probably benign |
Het |
Tlr3 |
T |
C |
8: 45,850,629 (GRCm39) |
E756G |
possibly damaging |
Het |
Ttll4 |
T |
A |
1: 74,724,517 (GRCm39) |
H562Q |
possibly damaging |
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 |
|
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'- CACTGGGAGAGAGTAAGCTTTTGG -3'
(R):5'- AATGAGGTACTGCAGTTCGTG -3'
Sequencing Primer
(F):5'- AGAGAGTAAGCTTTTGGAAAACAC -3'
(R):5'- CGCTAAGCAAGACTGACTGG -3'
|
Posted On |
2015-01-23 |