Incidental Mutation 'R7311:Cyb5r4'
| ID |
567594 |
| 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 |
045367-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7311 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86937835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 285
(C285R)
|
| 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: C285R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126119
Gene: ENSMUSG00000032872
AA Change: C285R
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
A |
G |
12: 110,635,184 (GRCm39) |
V118A |
probably benign |
Het |
| Accsl |
C |
T |
2: 93,696,160 (GRCm39) |
G146D |
possibly damaging |
Het |
| Acsm1 |
A |
T |
7: 119,237,305 (GRCm39) |
H206L |
probably damaging |
Het |
| Acta2 |
A |
G |
19: 34,219,186 (GRCm39) |
Y339H |
probably damaging |
Het |
| Adcy2 |
T |
C |
13: 68,779,073 (GRCm39) |
D989G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,979,507 (GRCm39) |
A264T |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,987,191 (GRCm39) |
D2825G |
possibly damaging |
Het |
| Akt1 |
G |
T |
12: 112,623,587 (GRCm39) |
T291K |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,040,551 (GRCm39) |
D589G |
probably damaging |
Het |
| B4galnt3 |
G |
A |
6: 120,192,396 (GRCm39) |
Q447* |
probably null |
Het |
| BC024063 |
C |
T |
10: 81,945,993 (GRCm39) |
R538C |
possibly damaging |
Het |
| Bod1l |
A |
G |
5: 41,951,676 (GRCm39) |
S2912P |
possibly damaging |
Het |
| Bysl |
A |
G |
17: 47,912,710 (GRCm39) |
V360A |
possibly damaging |
Het |
| C1qb |
A |
G |
4: 136,607,877 (GRCm39) |
V162A |
possibly damaging |
Het |
| Ccdc57 |
G |
A |
11: 120,764,567 (GRCm39) |
P736L |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,373,580 (GRCm39) |
F1287I |
probably damaging |
Het |
| Cntn1 |
T |
C |
15: 92,130,156 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
C |
T |
1: 90,750,013 (GRCm39) |
G274R |
probably damaging |
Het |
| Cplane1 |
G |
T |
15: 8,210,399 (GRCm39) |
V291F |
probably damaging |
Het |
| Cyp4f39 |
G |
A |
17: 32,708,629 (GRCm39) |
C392Y |
probably damaging |
Het |
| Dcun1d3 |
A |
T |
7: 119,458,734 (GRCm39) |
D100E |
probably damaging |
Het |
| Dhx58 |
A |
T |
11: 100,588,997 (GRCm39) |
D516E |
probably benign |
Het |
| Dock5 |
T |
A |
14: 68,065,951 (GRCm39) |
I351F |
probably benign |
Het |
| Elmod2 |
A |
C |
8: 84,046,041 (GRCm39) |
|
probably null |
Het |
| Endov |
G |
A |
11: 119,398,077 (GRCm39) |
A281T |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,485,562 (GRCm39) |
M1V |
probably null |
Het |
| Espnl |
T |
A |
1: 91,251,290 (GRCm39) |
H128Q |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,565,454 (GRCm39) |
C452* |
probably null |
Het |
| Fam241b |
A |
G |
10: 61,944,733 (GRCm39) |
V88A |
probably damaging |
Het |
| Fbxl9 |
A |
G |
8: 106,042,299 (GRCm39) |
|
probably benign |
Het |
| Fgd3 |
A |
T |
13: 49,450,166 (GRCm39) |
S28T |
possibly damaging |
Het |
| Fmn1 |
C |
A |
2: 113,356,025 (GRCm39) |
P920Q |
unknown |
Het |
| Gpr139 |
G |
C |
7: 118,744,089 (GRCm39) |
D165E |
probably benign |
Het |
| Hoxb1 |
A |
G |
11: 96,257,927 (GRCm39) |
T286A |
possibly damaging |
Het |
| Ifi204 |
T |
A |
1: 173,587,134 (GRCm39) |
E174D |
probably benign |
Het |
| Igf2bp2 |
A |
G |
16: 21,880,632 (GRCm39) |
I555T |
possibly damaging |
Het |
| Ighv1-85 |
A |
G |
12: 115,963,799 (GRCm39) |
I67T |
probably damaging |
Het |
| Ihh |
G |
C |
1: 74,990,306 (GRCm39) |
P23R |
unknown |
Het |
| Irx2 |
T |
C |
13: 72,779,396 (GRCm39) |
S227P |
probably damaging |
Het |
| Itga4 |
A |
G |
2: 79,086,526 (GRCm39) |
I68V |
probably benign |
Het |
| Jsrp1 |
T |
A |
10: 80,647,906 (GRCm39) |
T51S |
probably benign |
Het |
| Khdc4 |
T |
C |
3: 88,619,002 (GRCm39) |
S569P |
probably damaging |
Het |
| Kifc2 |
G |
T |
15: 76,547,010 (GRCm39) |
G306V |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,551,588 (GRCm39) |
S85T |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,074,380 (GRCm39) |
S944P |
|
Het |
| Lama4 |
T |
A |
10: 38,902,631 (GRCm39) |
C202S |
probably damaging |
Het |
| Morc3 |
G |
A |
16: 93,646,061 (GRCm39) |
D218N |
probably damaging |
Het |
| Mrtfb |
T |
A |
16: 13,223,718 (GRCm39) |
Y866* |
probably null |
Het |
| Myorg |
A |
G |
4: 41,498,577 (GRCm39) |
I351T |
probably damaging |
Het |
| N4bp2l1 |
G |
A |
5: 150,496,389 (GRCm39) |
T179I |
probably damaging |
Het |
| Narf |
A |
G |
11: 121,139,976 (GRCm39) |
E270G |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 34,049,380 (GRCm39) |
D1205G |
probably damaging |
Het |
| Or10x1 |
T |
C |
1: 174,196,759 (GRCm39) |
V92A |
probably benign |
Het |
| Or5an11 |
T |
C |
19: 12,246,068 (GRCm39) |
V158A |
probably benign |
Het |
| Parl |
T |
C |
16: 20,106,625 (GRCm39) |
T195A |
probably benign |
Het |
| Phrf1 |
A |
G |
7: 140,820,846 (GRCm39) |
I158V |
unknown |
Het |
| Phtf1 |
T |
C |
3: 103,904,980 (GRCm39) |
F543L |
possibly damaging |
Het |
| Plod2 |
T |
A |
9: 92,466,611 (GRCm39) |
D190E |
probably damaging |
Het |
| Polr1a |
G |
T |
6: 71,927,863 (GRCm39) |
K871N |
possibly damaging |
Het |
| Ppp2r5a |
A |
T |
1: 191,089,998 (GRCm39) |
I252K |
probably damaging |
Het |
| Ptgir |
T |
A |
7: 16,640,973 (GRCm39) |
D88E |
probably damaging |
Het |
| Raly |
T |
C |
2: 154,699,340 (GRCm39) |
V48A |
probably damaging |
Het |
| Ripor1 |
T |
A |
8: 106,344,447 (GRCm39) |
L527* |
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,307,373 (GRCm39) |
S678P |
|
Het |
| Rpf1 |
T |
A |
3: 146,212,918 (GRCm39) |
Q306L |
probably benign |
Het |
| Rpl14 |
T |
C |
9: 120,403,171 (GRCm39) |
I122T |
probably damaging |
Het |
| Scn9a |
C |
A |
2: 66,314,748 (GRCm39) |
A1657S |
possibly damaging |
Het |
| Serpinb10 |
A |
G |
1: 107,474,477 (GRCm39) |
Y213C |
probably damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,359,827 (GRCm39) |
L308P |
probably damaging |
Het |
| Smg9 |
T |
A |
7: 24,120,058 (GRCm39) |
M387K |
probably benign |
Het |
| Socs3 |
G |
A |
11: 117,858,614 (GRCm39) |
P148L |
probably benign |
Het |
| Susd3 |
A |
G |
13: 49,401,906 (GRCm39) |
L14P |
probably benign |
Het |
| Syt14 |
T |
A |
1: 192,662,858 (GRCm39) |
M80L |
probably benign |
Het |
| Tmprss2 |
T |
A |
16: 97,369,616 (GRCm39) |
Y386F |
possibly damaging |
Het |
| Tmx3 |
T |
A |
18: 90,558,195 (GRCm39) |
S416T |
probably benign |
Het |
| Treh |
A |
G |
9: 44,597,245 (GRCm39) |
T555A |
probably benign |
Het |
| Ttc5 |
T |
G |
14: 51,003,400 (GRCm39) |
Q428P |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,521,192 (GRCm39) |
S259P |
possibly damaging |
Het |
| Vps4b |
A |
T |
1: 106,719,434 (GRCm39) |
V38E |
probably damaging |
Het |
| Wdr83 |
C |
A |
8: 85,802,890 (GRCm39) |
R177L |
probably benign |
Het |
| Zfp780b |
A |
G |
7: 27,662,588 (GRCm39) |
F656L |
possibly damaging |
Het |
| Zfp995 |
A |
T |
17: 22,099,641 (GRCm39) |
F198I |
probably benign |
Het |
| Zswim8 |
A |
T |
14: 20,771,552 (GRCm39) |
Y1495F |
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 |
|
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 |
|
|
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'- CAGCTTTCAAAACTGTTTTCACTGG -3'
(R):5'- ATAAAAGCCAGGTGCCCAG -3'
Sequencing Primer
(F):5'- TCAAAACTGTTTTCACTGGGAAAG -3'
(R):5'- CCAGGTGCCCAGAAAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation