Incidental Mutation 'R6083:Cyb5r4'
ID |
482314 |
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 |
044242-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6083 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 86939221 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 335
(P335S)
|
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: P335S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126119 Gene: ENSMUSG00000032872 AA Change: P335S
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 |
0.9510 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
96% (76/79) |
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 |
2810021J22Rik |
C |
A |
11: 58,769,677 (GRCm39) |
P73Q |
possibly damaging |
Het |
Aak1 |
A |
T |
6: 86,940,978 (GRCm39) |
I591F |
unknown |
Het |
Ace |
C |
A |
11: 105,876,093 (GRCm39) |
Y816* |
probably null |
Het |
Ahnak2 |
A |
G |
12: 112,746,715 (GRCm39) |
V1205A |
probably benign |
Het |
Ahnak2 |
T |
G |
12: 112,746,589 (GRCm39) |
Q1076P |
probably benign |
Het |
Ap2a1 |
G |
A |
7: 44,557,175 (GRCm39) |
R263W |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,786,397 (GRCm39) |
T257A |
probably benign |
Het |
Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
Ccdc17 |
A |
T |
4: 116,454,123 (GRCm39) |
Q47L |
possibly damaging |
Het |
Cep170 |
C |
T |
1: 176,602,191 (GRCm39) |
R305H |
probably damaging |
Het |
Cyp2c54 |
A |
G |
19: 40,062,206 (GRCm39) |
L17P |
probably benign |
Het |
Cyp2c69 |
A |
T |
19: 39,837,900 (GRCm39) |
V394E |
probably damaging |
Het |
Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
Defb36 |
A |
T |
2: 152,446,408 (GRCm39) |
M1L |
unknown |
Het |
Dnaja1 |
A |
G |
4: 40,731,713 (GRCm39) |
D263G |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,510,148 (GRCm39) |
N1560S |
probably damaging |
Het |
Efnb2 |
T |
C |
8: 8,672,328 (GRCm39) |
|
probably null |
Het |
Eif3e |
A |
G |
15: 43,129,540 (GRCm39) |
I196T |
probably damaging |
Het |
Ercc4 |
T |
A |
16: 12,927,903 (GRCm39) |
C24* |
probably null |
Het |
Fmn1 |
A |
G |
2: 113,194,648 (GRCm39) |
E116G |
unknown |
Het |
Gnas |
A |
G |
2: 174,139,655 (GRCm39) |
M1V |
probably null |
Het |
Grin2a |
C |
A |
16: 9,397,404 (GRCm39) |
M894I |
probably benign |
Het |
Herc2 |
G |
T |
7: 55,878,253 (GRCm39) |
S4566I |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,631,044 (GRCm39) |
P918L |
probably damaging |
Het |
Hmcn1 |
G |
T |
1: 150,631,045 (GRCm39) |
P918T |
probably damaging |
Het |
Hsd3b2 |
T |
A |
3: 98,619,372 (GRCm39) |
Y191F |
possibly damaging |
Het |
Ifit1bl2 |
A |
C |
19: 34,597,217 (GRCm39) |
F133C |
possibly damaging |
Het |
Itih2 |
T |
C |
2: 10,113,705 (GRCm39) |
|
probably benign |
Het |
Itsn1 |
T |
C |
16: 91,649,899 (GRCm39) |
L191P |
probably benign |
Het |
Kdr |
T |
C |
5: 76,105,026 (GRCm39) |
K1068R |
probably damaging |
Het |
Lmtk2 |
T |
C |
5: 144,119,574 (GRCm39) |
L1345P |
probably damaging |
Het |
Man2b2 |
T |
A |
5: 36,966,385 (GRCm39) |
D936V |
probably damaging |
Het |
Mapk1ip1 |
G |
A |
7: 138,438,317 (GRCm39) |
R38* |
probably null |
Het |
Med13l |
T |
C |
5: 118,859,551 (GRCm39) |
V246A |
possibly damaging |
Het |
Mlec |
T |
A |
5: 115,286,108 (GRCm39) |
T248S |
probably benign |
Het |
Mslnl |
T |
A |
17: 25,956,876 (GRCm39) |
V54D |
possibly damaging |
Het |
Muc16 |
G |
A |
9: 18,568,508 (GRCm39) |
T1337I |
unknown |
Het |
Nek7 |
C |
T |
1: 138,443,392 (GRCm39) |
S187N |
probably damaging |
Het |
Neto2 |
A |
G |
8: 86,367,214 (GRCm39) |
V538A |
probably benign |
Het |
Nktr |
T |
C |
9: 121,579,202 (GRCm39) |
|
probably benign |
Het |
Npy6r |
A |
G |
18: 44,409,559 (GRCm39) |
K327E |
probably damaging |
Het |
Or2ag1 |
A |
G |
7: 106,472,789 (GRCm39) |
I221T |
probably damaging |
Het |
Or3a1c |
A |
G |
11: 74,046,396 (GRCm39) |
M139V |
possibly damaging |
Het |
Or4a72 |
T |
C |
2: 89,406,016 (GRCm39) |
D18G |
probably benign |
Het |
Or4c123 |
T |
A |
2: 89,127,368 (GRCm39) |
D82V |
probably damaging |
Het |
Or5b109 |
A |
T |
19: 13,211,889 (GRCm39) |
I92F |
probably benign |
Het |
Pcdhga4 |
A |
T |
18: 37,820,478 (GRCm39) |
N676Y |
probably damaging |
Het |
Pde2a |
T |
C |
7: 101,152,086 (GRCm39) |
I331T |
possibly damaging |
Het |
Pip5k1b |
A |
T |
19: 24,281,399 (GRCm39) |
Y486* |
probably null |
Het |
Plch2 |
A |
G |
4: 155,085,275 (GRCm39) |
M272T |
probably benign |
Het |
Rbm12 |
G |
A |
2: 155,939,646 (GRCm39) |
|
probably benign |
Het |
Rgs19 |
T |
C |
2: 181,331,300 (GRCm39) |
E111G |
probably damaging |
Het |
Rhbdf1 |
T |
C |
11: 32,160,066 (GRCm39) |
N145S |
probably damaging |
Het |
Rnf4 |
T |
A |
5: 34,508,565 (GRCm39) |
|
probably null |
Het |
Rpa1 |
T |
C |
11: 75,205,737 (GRCm39) |
T207A |
probably damaging |
Het |
Rufy4 |
A |
C |
1: 74,168,556 (GRCm39) |
Q113P |
probably damaging |
Het |
Sh3pxd2b |
T |
G |
11: 32,372,985 (GRCm39) |
S717R |
probably benign |
Het |
Sin3a |
A |
T |
9: 57,014,824 (GRCm39) |
I682F |
probably damaging |
Het |
Sipa1l2 |
A |
T |
8: 126,195,212 (GRCm39) |
V842E |
possibly damaging |
Het |
Slc5a4a |
A |
G |
10: 75,983,431 (GRCm39) |
I23V |
unknown |
Het |
Slitrk5 |
A |
G |
14: 111,919,157 (GRCm39) |
N927S |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,326,354 (GRCm39) |
K117R |
possibly damaging |
Het |
Sod2 |
G |
A |
17: 13,226,918 (GRCm39) |
|
probably benign |
Het |
Stxbp1 |
A |
G |
2: 32,686,030 (GRCm39) |
I567T |
possibly damaging |
Het |
Tbkbp1 |
C |
A |
11: 97,038,206 (GRCm39) |
L209F |
probably damaging |
Het |
Tll1 |
G |
T |
8: 64,491,620 (GRCm39) |
|
probably null |
Het |
Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
Trib1 |
G |
A |
15: 59,526,324 (GRCm39) |
R298H |
probably damaging |
Het |
Trim30b |
A |
G |
7: 104,015,349 (GRCm39) |
V13A |
probably damaging |
Het |
Trip11 |
G |
A |
12: 101,856,001 (GRCm39) |
T425I |
probably benign |
Het |
Ttn |
C |
A |
2: 76,720,317 (GRCm39) |
|
probably benign |
Het |
Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
A |
1: 187,999,220 (GRCm39) |
S177T |
probably damaging |
Het |
Usp40 |
A |
T |
1: 87,906,281 (GRCm39) |
S651R |
probably benign |
Het |
Vmn1r125 |
T |
C |
7: 21,006,644 (GRCm39) |
S181P |
probably damaging |
Het |
Vmn1r198 |
T |
A |
13: 22,538,928 (GRCm39) |
V138D |
possibly damaging |
Het |
Vmn1r56 |
A |
G |
7: 5,199,317 (GRCm39) |
L100P |
probably damaging |
Het |
Vmn2r32 |
T |
A |
7: 7,467,209 (GRCm39) |
D773V |
probably benign |
Het |
Vmn2r53 |
A |
C |
7: 12,315,808 (GRCm39) |
H670Q |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,055,711 (GRCm39) |
I809N |
probably damaging |
Het |
Wdr7 |
G |
A |
18: 63,861,540 (GRCm39) |
G184D |
probably damaging |
Het |
Wnk1 |
C |
T |
6: 120,014,562 (GRCm39) |
G11D |
probably damaging |
Het |
Zfp110 |
A |
C |
7: 12,578,602 (GRCm39) |
E171A |
possibly damaging |
Het |
Zkscan6 |
T |
C |
11: 65,706,757 (GRCm39) |
V134A |
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 |
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'- TGTAGCCCATTACAAATCTCATACG -3'
(R):5'- AGGGTCTCTATCCAACCTATCAC -3'
|
Posted On |
2017-07-14 |