Incidental Mutation 'R2036:Cyb5r4'
ID |
224660 |
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 |
040043-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2036 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 86924932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168529]
|
AlphaFold |
Q3TDX8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168529
|
SMART Domains |
Protein: ENSMUSP00000126119 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 |
4.1e-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: ENSMUST00000174540
|
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
100% (58/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930415H17Rik |
C |
T |
11: 99,576,358 (GRCm39) |
C3Y |
unknown |
Het |
Abr |
G |
T |
11: 76,343,176 (GRCm39) |
T547K |
probably benign |
Het |
Akr1c21 |
T |
C |
13: 4,626,305 (GRCm39) |
Y110H |
probably damaging |
Het |
Ankar |
T |
A |
1: 72,705,689 (GRCm39) |
K556* |
probably null |
Het |
Anks1b |
T |
C |
10: 90,805,715 (GRCm39) |
V431A |
probably damaging |
Het |
Ap5b1 |
T |
C |
19: 5,618,897 (GRCm39) |
S106P |
possibly damaging |
Het |
Arhgap17 |
T |
C |
7: 122,917,717 (GRCm39) |
N156D |
possibly damaging |
Het |
Arhgap35 |
T |
C |
7: 16,297,058 (GRCm39) |
E669G |
probably damaging |
Het |
Arhgap44 |
T |
C |
11: 64,932,318 (GRCm39) |
M201V |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atg4c |
C |
T |
4: 99,106,376 (GRCm39) |
T112M |
possibly damaging |
Het |
Bcl11a |
A |
T |
11: 24,114,087 (GRCm39) |
N477Y |
possibly damaging |
Het |
Brinp3 |
A |
T |
1: 146,577,579 (GRCm39) |
I205F |
possibly damaging |
Het |
Capza2 |
T |
C |
6: 17,660,777 (GRCm39) |
F159S |
probably damaging |
Het |
Cd40 |
T |
C |
2: 164,904,221 (GRCm39) |
C61R |
probably benign |
Het |
Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,301,822 (GRCm39) |
I415T |
possibly damaging |
Het |
Clnk |
A |
T |
5: 38,910,143 (GRCm39) |
|
probably null |
Het |
Ctcfl |
C |
T |
2: 172,943,778 (GRCm39) |
R524Q |
possibly damaging |
Het |
Ddb1 |
T |
A |
19: 10,588,186 (GRCm39) |
|
probably benign |
Het |
Ddx51 |
C |
A |
5: 110,804,491 (GRCm39) |
Q526K |
probably benign |
Het |
Dennd6a |
A |
T |
14: 26,329,274 (GRCm39) |
Q56L |
probably damaging |
Het |
Dhdds |
T |
C |
4: 133,698,410 (GRCm39) |
E142G |
probably damaging |
Het |
Dnai1 |
A |
G |
4: 41,632,225 (GRCm39) |
H553R |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,179,887 (GRCm39) |
N2908S |
probably benign |
Het |
Fryl |
C |
A |
5: 73,265,305 (GRCm39) |
|
probably null |
Het |
Fut9 |
A |
G |
4: 25,620,322 (GRCm39) |
I164T |
probably damaging |
Het |
Gba2 |
G |
A |
4: 43,568,118 (GRCm39) |
|
probably benign |
Het |
Gm11627 |
C |
T |
11: 102,467,580 (GRCm39) |
V33I |
unknown |
Het |
Helz2 |
T |
A |
2: 180,879,272 (GRCm39) |
H782L |
probably benign |
Het |
Kcnmb3 |
A |
G |
3: 32,526,531 (GRCm39) |
V220A |
probably damaging |
Het |
Kif20a |
T |
C |
18: 34,761,515 (GRCm39) |
S303P |
possibly damaging |
Het |
Kif22 |
A |
T |
7: 126,630,126 (GRCm39) |
V470E |
possibly damaging |
Het |
Majin |
C |
T |
19: 6,263,342 (GRCm39) |
T132M |
probably benign |
Het |
Mboat7 |
A |
G |
7: 3,688,671 (GRCm39) |
|
probably null |
Het |
Mkrn2 |
C |
A |
6: 115,588,875 (GRCm39) |
P206Q |
probably benign |
Het |
Mphosph9 |
G |
A |
5: 124,442,274 (GRCm39) |
T358M |
probably damaging |
Het |
Nkd1 |
A |
G |
8: 89,318,305 (GRCm39) |
D210G |
probably damaging |
Het |
Or4c110 |
C |
T |
2: 88,831,976 (GRCm39) |
V219I |
probably damaging |
Het |
Or4k41 |
T |
A |
2: 111,279,971 (GRCm39) |
L162Q |
possibly damaging |
Het |
Or5ae2 |
G |
T |
7: 84,505,566 (GRCm39) |
|
probably benign |
Het |
Or5b95 |
G |
C |
19: 12,658,165 (GRCm39) |
G231A |
probably damaging |
Het |
Or5p69 |
T |
A |
7: 107,966,947 (GRCm39) |
N83K |
probably benign |
Het |
Or6c35 |
G |
A |
10: 129,169,541 (GRCm39) |
D264N |
probably benign |
Het |
Or9s15 |
A |
T |
1: 92,524,328 (GRCm39) |
E29V |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,120,976 (GRCm39) |
Y63H |
probably damaging |
Het |
Plekha1 |
A |
G |
7: 130,503,922 (GRCm39) |
R210G |
probably damaging |
Het |
Ppp2r2c |
C |
T |
5: 37,109,748 (GRCm39) |
T369I |
possibly damaging |
Het |
Relch |
A |
G |
1: 105,670,979 (GRCm39) |
D1029G |
probably damaging |
Het |
Rmnd1 |
T |
C |
10: 4,357,884 (GRCm39) |
D12G |
probably damaging |
Het |
Rtn2 |
A |
G |
7: 19,027,664 (GRCm39) |
K120E |
probably damaging |
Het |
Sh3tc1 |
A |
G |
5: 35,873,508 (GRCm39) |
S30P |
probably benign |
Het |
Tln2 |
T |
C |
9: 67,179,986 (GRCm39) |
E795G |
possibly damaging |
Het |
Tmprss11d |
T |
A |
5: 86,457,128 (GRCm39) |
Y177F |
probably damaging |
Het |
Trrap |
C |
A |
5: 144,765,372 (GRCm39) |
D2529E |
probably benign |
Het |
Vmn2r58 |
A |
G |
7: 41,513,417 (GRCm39) |
Y409H |
probably benign |
Het |
Wdr72 |
T |
A |
9: 74,058,876 (GRCm39) |
V323D |
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 |
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'- GCGGTGCATGAAAATGTCAC -3'
(R):5'- ACAGCACATTAGACTTCTGATTGC -3'
Sequencing Primer
(F):5'- GTGCATGAAAATGTCACTCAGC -3'
(R):5'- CTTCTGATTGCCTAGATTTTGGAAAG -3'
|
Posted On |
2014-08-25 |