Incidental Mutation 'R1381:Cyb5r4'
ID |
163037 |
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 |
039443-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1381 (G1)
|
Quality Score |
132 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 86904286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 19
(S19T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058846]
[ENSMUST00000168529]
|
AlphaFold |
Q3TDX8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058846
|
SMART Domains |
Protein: ENSMUSP00000055369 Gene: ENSMUSG00000047897
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
Pfam:Ripply
|
33 |
118 |
2.3e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168529
AA Change: S19T
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000126119 Gene: ENSMUSG00000032872 AA Change: S19T
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: 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188187
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.2%
|
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 |
4932414N04Rik |
C |
A |
2: 68,561,430 (GRCm39) |
F252L |
probably benign |
Het |
Aadac |
A |
T |
3: 59,947,351 (GRCm39) |
M350L |
probably damaging |
Het |
Agtrap |
G |
A |
4: 148,168,422 (GRCm39) |
T19I |
probably damaging |
Het |
Apba3 |
C |
T |
10: 81,107,590 (GRCm39) |
T142M |
possibly damaging |
Het |
Cd55b |
T |
A |
1: 130,347,412 (GRCm39) |
K133I |
probably damaging |
Het |
Cep295 |
A |
C |
9: 15,233,861 (GRCm39) |
C2312G |
probably benign |
Het |
Ces1a |
A |
G |
8: 93,760,659 (GRCm39) |
V231A |
probably damaging |
Het |
Chdh |
C |
A |
14: 29,758,791 (GRCm39) |
L579I |
probably damaging |
Het |
Cyp2d22 |
C |
A |
15: 82,256,709 (GRCm39) |
R355L |
probably benign |
Het |
Dach2 |
T |
C |
X: 112,208,472 (GRCm39) |
Y117H |
probably damaging |
Het |
Dennd4c |
G |
A |
4: 86,692,769 (GRCm39) |
R93K |
probably benign |
Het |
Dph2 |
G |
T |
4: 117,746,865 (GRCm39) |
L452I |
probably damaging |
Het |
Exoc6b |
T |
C |
6: 84,812,099 (GRCm39) |
D634G |
probably benign |
Het |
Fam217b |
G |
A |
2: 178,062,218 (GRCm39) |
V61I |
probably benign |
Het |
Fbln7 |
A |
C |
2: 128,719,299 (GRCm39) |
Q32P |
probably damaging |
Het |
Fgfr1op2 |
A |
G |
6: 146,490,239 (GRCm39) |
Y46C |
probably damaging |
Het |
Fhod3 |
T |
A |
18: 25,223,528 (GRCm39) |
I958N |
probably damaging |
Het |
Foxp2 |
T |
A |
6: 15,409,765 (GRCm39) |
M455K |
possibly damaging |
Het |
Gabrr2 |
G |
A |
4: 33,081,420 (GRCm39) |
G152D |
probably damaging |
Het |
Galntl6 |
G |
T |
8: 58,925,989 (GRCm39) |
P92Q |
probably damaging |
Het |
Gm5592 |
A |
T |
7: 40,935,596 (GRCm39) |
T33S |
probably benign |
Het |
Grid2ip |
A |
T |
5: 143,348,406 (GRCm39) |
T166S |
probably benign |
Het |
Grsf1 |
G |
A |
5: 88,813,723 (GRCm39) |
S225L |
probably benign |
Het |
Hadha |
G |
T |
5: 30,333,834 (GRCm39) |
T395K |
probably benign |
Het |
Hars2 |
C |
T |
18: 36,922,270 (GRCm39) |
A295V |
possibly damaging |
Het |
Hsf5 |
T |
A |
11: 87,528,995 (GRCm39) |
S577T |
probably benign |
Het |
Ice2 |
A |
G |
9: 69,307,809 (GRCm39) |
Y31C |
probably damaging |
Het |
Ift80 |
A |
T |
3: 68,822,116 (GRCm39) |
I643N |
possibly damaging |
Het |
Iglon5 |
A |
T |
7: 43,126,064 (GRCm39) |
D222E |
probably benign |
Het |
Ilvbl |
C |
A |
10: 78,412,430 (GRCm39) |
S50R |
probably damaging |
Het |
Invs |
C |
A |
4: 48,421,942 (GRCm39) |
S858* |
probably null |
Het |
Ipo13 |
T |
G |
4: 117,761,592 (GRCm39) |
T508P |
probably damaging |
Het |
Itgb4 |
T |
C |
11: 115,885,163 (GRCm39) |
I1015T |
probably benign |
Het |
Kank4 |
A |
T |
4: 98,668,175 (GRCm39) |
W91R |
probably damaging |
Het |
Kansl1l |
C |
T |
1: 66,760,063 (GRCm39) |
A906T |
probably benign |
Het |
Klk4 |
G |
A |
7: 43,534,706 (GRCm39) |
V222M |
probably damaging |
Het |
Lipo4 |
T |
A |
19: 33,476,741 (GRCm39) |
M336L |
probably benign |
Het |
Lrig1 |
T |
C |
6: 94,583,111 (GRCm39) |
N1002D |
probably benign |
Het |
Lzts3 |
A |
G |
2: 130,477,219 (GRCm39) |
S524P |
probably damaging |
Het |
Maz |
A |
T |
7: 126,622,324 (GRCm39) |
C409* |
probably null |
Het |
Mmp24 |
A |
T |
2: 155,656,047 (GRCm39) |
Q495L |
possibly damaging |
Het |
Mrgpra9 |
C |
T |
7: 46,885,050 (GRCm39) |
V206I |
possibly damaging |
Het |
Myof |
A |
G |
19: 37,983,933 (GRCm39) |
Y124H |
probably damaging |
Het |
Nalcn |
A |
T |
14: 123,551,517 (GRCm39) |
V1030D |
probably damaging |
Het |
Neb |
T |
A |
2: 52,150,544 (GRCm39) |
I2495F |
probably damaging |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Nrbf2 |
G |
A |
10: 67,103,605 (GRCm39) |
T166M |
probably damaging |
Het |
Nup153 |
T |
C |
13: 46,842,657 (GRCm39) |
D837G |
probably damaging |
Het |
Nup210 |
C |
A |
6: 91,052,942 (GRCm39) |
G331V |
probably damaging |
Het |
Or5b97 |
T |
C |
19: 12,878,320 (GRCm39) |
T275A |
probably benign |
Het |
Or5w18 |
T |
C |
2: 87,633,480 (GRCm39) |
L245P |
probably damaging |
Het |
Or6z7 |
A |
G |
7: 6,484,008 (GRCm39) |
|
probably null |
Het |
Or8b56 |
T |
A |
9: 38,739,634 (GRCm39) |
S210T |
probably benign |
Het |
Pabpc4 |
T |
A |
4: 123,182,852 (GRCm39) |
L163H |
probably damaging |
Het |
Pcdh7 |
T |
A |
5: 57,878,882 (GRCm39) |
Y126* |
probably null |
Het |
Pdzd2 |
A |
G |
15: 12,385,525 (GRCm39) |
S1082P |
probably benign |
Het |
Pkd2l1 |
T |
C |
19: 44,138,902 (GRCm39) |
I649M |
probably benign |
Het |
Plcl2 |
G |
A |
17: 50,914,757 (GRCm39) |
E589K |
probably damaging |
Het |
Plppr1 |
C |
A |
4: 49,337,674 (GRCm39) |
T325N |
possibly damaging |
Het |
Prss8 |
GCTGCCCAAGTCCC |
GC |
7: 127,529,021 (GRCm39) |
|
probably benign |
Het |
Ptcd2 |
A |
G |
13: 99,481,105 (GRCm39) |
S25P |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rusc2 |
T |
A |
4: 43,416,137 (GRCm39) |
V481E |
probably damaging |
Het |
Sephs2 |
G |
T |
7: 126,872,139 (GRCm39) |
T318K |
probably damaging |
Het |
Sf3b1 |
T |
A |
1: 55,042,313 (GRCm39) |
I497L |
probably damaging |
Het |
Slc30a7 |
C |
T |
3: 115,750,519 (GRCm39) |
|
probably null |
Het |
Slc66a2 |
T |
G |
18: 80,326,529 (GRCm39) |
S126A |
probably benign |
Het |
Smarca2 |
T |
C |
19: 26,608,228 (GRCm39) |
S96P |
probably damaging |
Het |
Spata31d1c |
A |
C |
13: 65,184,368 (GRCm39) |
I637L |
probably benign |
Het |
Ston2 |
A |
T |
12: 91,707,266 (GRCm39) |
S115T |
probably damaging |
Het |
Tal2 |
A |
C |
4: 53,785,999 (GRCm39) |
E60A |
probably benign |
Het |
Tdpoz3 |
A |
T |
3: 93,733,447 (GRCm39) |
T41S |
probably benign |
Het |
Tent4b |
T |
A |
8: 88,969,937 (GRCm39) |
M203K |
possibly damaging |
Het |
Tespa1 |
T |
C |
10: 130,196,560 (GRCm39) |
I166T |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,555,438 (GRCm39) |
C149S |
probably damaging |
Het |
Trav6-1 |
T |
A |
14: 52,875,967 (GRCm39) |
|
probably benign |
Het |
Txnl4a |
T |
C |
18: 80,250,479 (GRCm39) |
V25A |
probably benign |
Het |
Utp4 |
C |
A |
8: 107,632,908 (GRCm39) |
P297Q |
probably benign |
Het |
Vmn1r34 |
T |
C |
6: 66,613,922 (GRCm39) |
Y272C |
probably damaging |
Het |
Vmn2r112 |
A |
T |
17: 22,837,467 (GRCm39) |
I643F |
probably damaging |
Het |
Vmn2r121 |
C |
A |
X: 123,037,837 (GRCm39) |
G728W |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,763,692 (GRCm39) |
S190T |
probably damaging |
Het |
Zfp507 |
A |
G |
7: 35,475,435 (GRCm39) |
V926A |
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 |
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 |
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'- AGAGTGAGTGAGCCTTTCCTCTGAC -3'
(R):5'- CTTGAGACAGAAATGCAACCATGCC -3'
Sequencing Primer
(F):5'- GCCTTTCCTCTGACTCCGC -3'
(R):5'- TGCAACCATGCCGGAAG -3'
|
Posted On |
2014-03-17 |