Incidental Mutation 'R7662:Cyb5r4'
ID |
591649 |
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 |
045737-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7662 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86909091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 56
(E56G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168529]
|
AlphaFold |
Q3TDX8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168529
AA Change: E56G
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126119 Gene: ENSMUSG00000032872 AA Change: E56G
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 |
|
Meta Mutation Damage Score |
0.0982 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (82/82) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
G |
A |
9: 55,885,999 (GRCm39) |
S48L |
probably benign |
Het |
Abi3bp |
A |
G |
16: 56,437,686 (GRCm39) |
|
probably null |
Het |
Adss1 |
T |
A |
12: 112,606,172 (GRCm39) |
V456E |
probably damaging |
Het |
Aimp1 |
A |
T |
3: 132,379,827 (GRCm39) |
V105E |
probably benign |
Het |
Ankrd6 |
G |
A |
4: 32,818,694 (GRCm39) |
R270C |
probably damaging |
Het |
Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Asb15 |
T |
A |
6: 24,566,089 (GRCm39) |
D347E |
probably benign |
Het |
Axin2 |
T |
A |
11: 108,833,282 (GRCm39) |
L489Q |
possibly damaging |
Het |
Baiap2l1 |
G |
A |
5: 144,294,700 (GRCm39) |
|
probably benign |
Het |
Cdc6 |
T |
A |
11: 98,801,438 (GRCm39) |
N194K |
possibly damaging |
Het |
Cdc6 |
T |
C |
11: 98,807,836 (GRCm39) |
L443P |
probably benign |
Het |
Celf2 |
C |
A |
2: 6,558,728 (GRCm39) |
G393C |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,373,665 (GRCm39) |
M1315K |
probably benign |
Het |
Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
Cntn5 |
A |
T |
9: 9,661,390 (GRCm39) |
M887K |
probably benign |
Het |
Col17a1 |
T |
C |
19: 47,669,940 (GRCm39) |
I71V |
probably benign |
Het |
Crot |
T |
C |
5: 9,019,072 (GRCm39) |
M494V |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 77,613,852 (GRCm39) |
V246D |
probably damaging |
Het |
Dennd2a |
A |
G |
6: 39,470,037 (GRCm39) |
Y552H |
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,759,713 (GRCm39) |
I273V |
probably damaging |
Het |
Dkk2 |
A |
G |
3: 131,883,629 (GRCm39) |
|
probably null |
Het |
Dnaja2 |
A |
C |
8: 86,265,905 (GRCm39) |
D393E |
probably benign |
Het |
Dscc1 |
T |
A |
15: 54,939,561 (GRCm39) |
I461F |
possibly damaging |
Het |
Dspp |
A |
T |
5: 104,325,736 (GRCm39) |
S700C |
unknown |
Het |
Ect2 |
T |
A |
3: 27,185,947 (GRCm39) |
H512L |
probably damaging |
Het |
Eif1b |
A |
G |
9: 120,323,277 (GRCm39) |
T46A |
possibly damaging |
Het |
Fam114a2 |
A |
T |
11: 57,398,391 (GRCm39) |
D182E |
probably damaging |
Het |
Fez1 |
C |
A |
9: 36,781,796 (GRCm39) |
P347H |
probably damaging |
Het |
Fgd5 |
G |
A |
6: 92,026,912 (GRCm39) |
|
probably null |
Het |
Flad1 |
T |
A |
3: 89,310,758 (GRCm39) |
I430F |
probably damaging |
Het |
Gal3st2b |
T |
C |
1: 93,868,614 (GRCm39) |
Y282H |
probably damaging |
Het |
Gm29106 |
T |
A |
1: 118,127,137 (GRCm39) |
N276K |
possibly damaging |
Het |
Gm36176 |
C |
A |
10: 77,682,686 (GRCm39) |
S16Y |
unknown |
Het |
Gm5624 |
T |
C |
14: 44,799,390 (GRCm39) |
R56G |
possibly damaging |
Het |
Gpatch11 |
A |
C |
17: 79,146,484 (GRCm39) |
Q43P |
probably benign |
Het |
Gtpbp2 |
A |
G |
17: 46,477,361 (GRCm39) |
T409A |
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,272,357 (GRCm39) |
I1279T |
probably benign |
Het |
Itih3 |
T |
A |
14: 30,639,287 (GRCm39) |
N429Y |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,736,353 (GRCm39) |
|
probably null |
Het |
Lrrc34 |
T |
A |
3: 30,697,452 (GRCm39) |
Y93F |
probably benign |
Het |
Lypd9 |
T |
C |
11: 58,338,269 (GRCm39) |
N41S |
probably benign |
Het |
Malrd1 |
T |
A |
2: 15,876,265 (GRCm39) |
V1404D |
unknown |
Het |
Med1 |
T |
C |
11: 98,046,218 (GRCm39) |
N1526S |
unknown |
Het |
Myt1l |
A |
G |
12: 29,876,868 (GRCm39) |
D173G |
unknown |
Het |
Nckap1l |
A |
T |
15: 103,371,012 (GRCm39) |
H197L |
probably damaging |
Het |
Nipa1 |
T |
C |
7: 55,629,372 (GRCm39) |
E247G |
probably damaging |
Het |
Nmrk1 |
A |
T |
19: 18,619,542 (GRCm39) |
R132* |
probably null |
Het |
Nrap |
G |
T |
19: 56,308,715 (GRCm39) |
A1700E |
probably benign |
Het |
Odr4 |
T |
C |
1: 150,258,045 (GRCm39) |
S197G |
probably benign |
Het |
Or13p8 |
T |
A |
4: 118,583,504 (GRCm39) |
F20Y |
probably damaging |
Het |
Or8g32 |
A |
T |
9: 39,305,389 (GRCm39) |
M98L |
probably benign |
Het |
Padi6 |
T |
C |
4: 140,456,306 (GRCm39) |
T563A |
probably benign |
Het |
Pcdhb19 |
G |
A |
18: 37,631,788 (GRCm39) |
E528K |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,223,356 (GRCm39) |
D1942G |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,545,510 (GRCm39) |
W1167* |
probably null |
Het |
Pkp3 |
C |
T |
7: 140,658,292 (GRCm39) |
T19I |
probably benign |
Het |
Plekhg5 |
T |
C |
4: 152,188,755 (GRCm39) |
L199P |
probably damaging |
Het |
Rasal1 |
A |
G |
5: 120,800,249 (GRCm39) |
T171A |
probably benign |
Het |
Rgsl1 |
T |
C |
1: 153,701,225 (GRCm39) |
I410V |
probably benign |
Het |
Scart2 |
T |
C |
7: 139,874,725 (GRCm39) |
V401A |
possibly damaging |
Het |
Sftpa1 |
C |
A |
14: 40,856,169 (GRCm39) |
N171K |
probably damaging |
Het |
Slc5a9 |
A |
T |
4: 111,734,737 (GRCm39) |
*686R |
probably null |
Het |
Smap1 |
A |
T |
1: 23,916,855 (GRCm39) |
N91K |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,788,762 (GRCm39) |
S695P |
probably benign |
Het |
Thoc3 |
A |
T |
13: 54,611,617 (GRCm39) |
H223Q |
probably damaging |
Het |
Tmco4 |
T |
C |
4: 138,737,872 (GRCm39) |
F156L |
probably benign |
Het |
Tmem30a |
C |
T |
9: 79,682,513 (GRCm39) |
V188I |
probably benign |
Het |
Trim27 |
T |
A |
13: 21,376,328 (GRCm39) |
C359S |
probably benign |
Het |
Trrap |
A |
G |
5: 144,769,321 (GRCm39) |
T2609A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,692,744 (GRCm39) |
V446A |
|
Het |
Vat1l |
T |
A |
8: 115,009,084 (GRCm39) |
Y273N |
probably damaging |
Het |
Vmn1r129 |
T |
A |
7: 21,094,552 (GRCm39) |
H222L |
possibly damaging |
Het |
Vmn2r19 |
A |
G |
6: 123,308,521 (GRCm39) |
T533A |
probably benign |
Het |
Vmn2r77 |
T |
A |
7: 86,460,492 (GRCm39) |
L606* |
probably null |
Het |
Vmn2r93 |
G |
T |
17: 18,525,631 (GRCm39) |
V430L |
probably benign |
Het |
Vps50 |
T |
A |
6: 3,562,304 (GRCm39) |
N466K |
probably damaging |
Het |
Zfp507 |
A |
T |
7: 35,487,229 (GRCm39) |
Y746* |
probably null |
Het |
Zfp521 |
A |
C |
18: 13,977,173 (GRCm39) |
L1080R |
probably damaging |
Het |
Zfp74 |
A |
G |
7: 29,653,278 (GRCm39) |
|
probably null |
Het |
Zfp831 |
G |
A |
2: 174,487,934 (GRCm39) |
A870T |
possibly damaging |
Het |
Zfp936 |
A |
T |
7: 42,839,336 (GRCm39) |
K268* |
probably null |
Het |
Zhx2 |
C |
A |
15: 57,685,572 (GRCm39) |
R314S |
probably damaging |
Het |
Zkscan16 |
A |
T |
4: 58,957,679 (GRCm39) |
K654* |
probably null |
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 |
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'- TAGTCCAAAGGCAAATTGACGG -3'
(R):5'- TTGGCAAACACCTGCTTCC -3'
Sequencing Primer
(F):5'- CCAAAGGCAAATTGACGGAGGAG -3'
(R):5'- CCTTTCAAAGGGAATGCAACATAAG -3'
|
Posted On |
2019-11-12 |