Incidental Mutation 'R1876:Cyb5r4'
ID |
211240 |
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 |
039898-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1876 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 86937867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 295
(H295Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168529]
[ENSMUST00000174294]
|
AlphaFold |
Q3TDX8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168529
AA Change: H295Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126119 Gene: ENSMUSG00000032872 AA Change: H295Q
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 |
0.3487 |
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.2%
|
Validation Efficiency |
99% (82/83) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
C |
A |
5: 77,025,396 (GRCm39) |
C961F |
probably damaging |
Het |
Abca16 |
A |
C |
7: 120,032,608 (GRCm39) |
D209A |
probably damaging |
Het |
Adamts14 |
T |
C |
10: 61,036,151 (GRCm39) |
I1047V |
probably benign |
Het |
Ak1 |
A |
G |
2: 32,520,282 (GRCm39) |
K27E |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,011,809 (GRCm39) |
D837E |
probably benign |
Het |
Arfgef3 |
T |
C |
10: 18,473,104 (GRCm39) |
Y1653C |
probably damaging |
Het |
Atad2 |
T |
G |
15: 57,970,264 (GRCm39) |
I446L |
probably benign |
Het |
Atp8b3 |
T |
G |
10: 80,365,912 (GRCm39) |
T313P |
possibly damaging |
Het |
Btg4 |
T |
C |
9: 51,028,489 (GRCm39) |
L72S |
probably damaging |
Het |
Canx |
A |
G |
11: 50,195,186 (GRCm39) |
I294T |
probably damaging |
Het |
Casp1 |
G |
A |
9: 5,303,663 (GRCm39) |
E250K |
probably benign |
Het |
Chchd10 |
T |
A |
10: 75,772,166 (GRCm39) |
S46T |
probably benign |
Het |
Col12a1 |
G |
T |
9: 79,585,563 (GRCm39) |
Y1271* |
probably null |
Het |
Col3a1 |
G |
A |
1: 45,381,395 (GRCm39) |
|
probably null |
Het |
Ctc1 |
A |
T |
11: 68,922,390 (GRCm39) |
T872S |
probably benign |
Het |
Cx3cl1 |
T |
C |
8: 95,507,048 (GRCm39) |
F351S |
probably damaging |
Het |
Cyp2j7 |
T |
C |
4: 96,105,656 (GRCm39) |
T285A |
probably benign |
Het |
Dip2a |
G |
A |
10: 76,153,925 (GRCm39) |
T135M |
probably damaging |
Het |
Eif1ad18 |
T |
G |
12: 88,050,810 (GRCm39) |
I115S |
probably damaging |
Het |
Fgf10 |
A |
G |
13: 118,925,695 (GRCm39) |
E158G |
probably damaging |
Het |
Ftcd |
G |
T |
10: 76,417,403 (GRCm39) |
A281S |
probably benign |
Het |
Gpat4 |
A |
T |
8: 23,669,486 (GRCm39) |
M333K |
possibly damaging |
Het |
Gpcpd1 |
A |
G |
2: 132,376,673 (GRCm39) |
L541P |
probably damaging |
Het |
Grk5 |
T |
C |
19: 61,071,663 (GRCm39) |
Y408H |
probably damaging |
Het |
Hcrtr2 |
A |
G |
9: 76,153,627 (GRCm39) |
|
probably null |
Het |
Hsd17b13 |
T |
A |
5: 104,116,633 (GRCm39) |
N127I |
probably damaging |
Het |
Hspa4 |
T |
G |
11: 53,174,983 (GRCm39) |
D158A |
probably benign |
Het |
Ice2 |
G |
A |
9: 69,322,857 (GRCm39) |
A451T |
possibly damaging |
Het |
Inpp5e |
A |
T |
2: 26,298,169 (GRCm39) |
I144K |
possibly damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lrrc49 |
T |
C |
9: 60,495,060 (GRCm39) |
I652V |
possibly damaging |
Het |
Man1a |
A |
T |
10: 53,795,268 (GRCm39) |
W571R |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,047,807 (GRCm39) |
S32P |
probably damaging |
Het |
Mrpl40 |
A |
G |
16: 18,691,224 (GRCm39) |
I162T |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mtmr12 |
T |
C |
15: 12,257,716 (GRCm39) |
W265R |
probably damaging |
Het |
Mup21 |
C |
T |
4: 62,067,663 (GRCm39) |
V79I |
probably benign |
Het |
Myh11 |
G |
A |
16: 14,086,967 (GRCm39) |
|
probably benign |
Het |
Myom3 |
T |
A |
4: 135,506,711 (GRCm39) |
F495I |
probably benign |
Het |
Ncoa7 |
A |
T |
10: 30,574,122 (GRCm39) |
|
probably benign |
Het |
Nisch |
T |
C |
14: 30,895,594 (GRCm39) |
Y45C |
probably damaging |
Het |
Nkain2 |
T |
A |
10: 32,766,435 (GRCm39) |
|
probably benign |
Het |
Or1ak2 |
A |
T |
2: 36,827,775 (GRCm39) |
I215F |
possibly damaging |
Het |
Or4k1 |
A |
G |
14: 50,377,629 (GRCm39) |
S156P |
probably damaging |
Het |
Pdcl |
A |
C |
2: 37,245,708 (GRCm39) |
H98Q |
probably damaging |
Het |
Pink1 |
A |
G |
4: 138,043,013 (GRCm39) |
V427A |
probably damaging |
Het |
Plce1 |
T |
C |
19: 38,769,067 (GRCm39) |
S2242P |
probably damaging |
Het |
Plrg1 |
C |
A |
3: 82,976,375 (GRCm39) |
|
probably benign |
Het |
Plxnc1 |
A |
G |
10: 94,702,803 (GRCm39) |
F586S |
possibly damaging |
Het |
Pnpla7 |
G |
A |
2: 24,930,985 (GRCm39) |
V867M |
possibly damaging |
Het |
Ppfia3 |
T |
A |
7: 45,001,631 (GRCm39) |
D427V |
possibly damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,521,971 (GRCm39) |
|
probably benign |
Het |
Pros1 |
A |
T |
16: 62,723,881 (GRCm39) |
S210C |
probably damaging |
Het |
Ptk2b |
A |
G |
14: 66,395,841 (GRCm39) |
S839P |
probably benign |
Het |
Ptpre |
T |
C |
7: 135,280,046 (GRCm39) |
V570A |
possibly damaging |
Het |
Rbm48 |
C |
T |
5: 3,645,259 (GRCm39) |
A142T |
probably damaging |
Het |
Safb2 |
T |
C |
17: 56,883,909 (GRCm39) |
|
probably null |
Het |
Scnn1a |
A |
G |
6: 125,315,801 (GRCm39) |
E384G |
probably benign |
Het |
Sec23ip |
A |
G |
7: 128,354,575 (GRCm39) |
Y277C |
probably benign |
Het |
Slc25a29 |
G |
A |
12: 108,793,637 (GRCm39) |
T42M |
probably damaging |
Het |
Slc6a4 |
A |
T |
11: 76,905,990 (GRCm39) |
T264S |
probably benign |
Het |
Srgap3 |
A |
G |
6: 112,752,527 (GRCm39) |
M319T |
probably damaging |
Het |
Strn4 |
T |
A |
7: 16,572,207 (GRCm39) |
I640N |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,225,475 (GRCm39) |
D739G |
probably benign |
Het |
Tigd4 |
T |
A |
3: 84,501,242 (GRCm39) |
L53* |
probably null |
Het |
Tlr6 |
T |
A |
5: 65,112,763 (GRCm39) |
D48V |
probably damaging |
Het |
Tmem125 |
T |
C |
4: 118,399,101 (GRCm39) |
D110G |
probably damaging |
Het |
Tmem198 |
A |
G |
1: 75,461,567 (GRCm39) |
D341G |
probably damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,880,682 (GRCm39) |
F462L |
possibly damaging |
Het |
Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
Ush2a |
T |
A |
1: 188,410,486 (GRCm39) |
I2378N |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,654,127 (GRCm39) |
T108A |
probably damaging |
Het |
Vmn1r236 |
T |
A |
17: 21,506,900 (GRCm39) |
I6K |
probably benign |
Het |
Vmn2r65 |
A |
T |
7: 84,595,505 (GRCm39) |
V393D |
probably 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 |
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'- AGCTTTCAAAACTGTTTTCACTGGG -3'
(R):5'- ACAGGCACAGTCCGACATTC -3'
Sequencing Primer
(F):5'- AAATTGGATGTTAGTGTCTTGAGAC -3'
(R):5'- ACAGTCCGACATTCGCTCG -3'
|
Posted On |
2014-06-30 |