Incidental Mutation 'R8369:Cyb5r4'
ID |
646305 |
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 |
067739-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8369 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86922486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 165
(D165V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168529]
|
AlphaFold |
Q3TDX8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168529
AA Change: D165V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000126119 Gene: ENSMUSG00000032872 AA Change: D165V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
G |
A |
16: 90,852,657 (GRCm39) |
H160Y |
probably benign |
Het |
Abcc4 |
T |
G |
14: 118,864,869 (GRCm39) |
I386L |
probably benign |
Het |
Arap2 |
G |
A |
5: 62,761,669 (GRCm39) |
R1686* |
probably null |
Het |
Arfgef3 |
A |
T |
10: 18,465,477 (GRCm39) |
I2122N |
probably benign |
Het |
Arhgap44 |
A |
T |
11: 64,950,680 (GRCm39) |
D119E |
probably damaging |
Het |
Atp2b2 |
C |
T |
6: 113,790,747 (GRCm39) |
|
probably null |
Het |
Bltp1 |
T |
A |
3: 37,065,752 (GRCm39) |
L9M |
|
Het |
Brinp1 |
A |
T |
4: 68,716,936 (GRCm39) |
L304Q |
possibly damaging |
Het |
C2cd3 |
T |
C |
7: 100,044,465 (GRCm39) |
V349A |
probably benign |
Het |
Ccdc93 |
T |
C |
1: 121,405,597 (GRCm39) |
Y347H |
probably damaging |
Het |
Ccdc93 |
T |
G |
1: 121,422,126 (GRCm39) |
I534S |
probably benign |
Het |
Cygb |
G |
A |
11: 116,540,109 (GRCm39) |
T180I |
probably benign |
Het |
Cyp4f15 |
T |
A |
17: 32,916,939 (GRCm39) |
S285R |
probably benign |
Het |
Daxx |
G |
T |
17: 34,131,590 (GRCm39) |
C433F |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,185,043 (GRCm39) |
E483G |
probably damaging |
Het |
Dennd1a |
T |
A |
2: 37,938,766 (GRCm39) |
I115F |
probably damaging |
Het |
Dnajc5b |
A |
G |
3: 19,664,796 (GRCm39) |
D198G |
probably damaging |
Het |
Ercc1 |
T |
A |
7: 19,088,377 (GRCm39) |
C243* |
probably null |
Het |
Ermard |
T |
C |
17: 15,273,560 (GRCm39) |
F382L |
probably damaging |
Het |
Fer1l4 |
C |
A |
2: 155,861,680 (GRCm39) |
G1879V |
probably benign |
Het |
Focad |
T |
A |
4: 88,150,905 (GRCm39) |
H516Q |
unknown |
Het |
Gcsam |
T |
A |
16: 45,436,369 (GRCm39) |
W51R |
probably damaging |
Het |
Ikbkb |
A |
G |
8: 23,181,097 (GRCm39) |
V122A |
probably benign |
Het |
Iqgap2 |
A |
T |
13: 95,798,111 (GRCm39) |
S1065T |
probably damaging |
Het |
Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
Krt24 |
A |
T |
11: 99,173,534 (GRCm39) |
C262* |
probably null |
Het |
Lrat |
T |
C |
3: 82,810,865 (GRCm39) |
E52G |
probably damaging |
Het |
Misp3 |
T |
A |
8: 84,737,627 (GRCm39) |
H94L |
unknown |
Het |
N4bp3 |
A |
G |
11: 51,535,253 (GRCm39) |
L312P |
probably damaging |
Het |
Naxe |
T |
C |
3: 87,963,994 (GRCm39) |
T246A |
probably benign |
Het |
Pcolce2 |
A |
T |
9: 95,519,847 (GRCm39) |
M1L |
probably benign |
Het |
Slc7a6 |
G |
A |
8: 106,919,796 (GRCm39) |
A270T |
probably damaging |
Het |
Sord |
T |
A |
2: 122,076,976 (GRCm39) |
I27K |
probably benign |
Het |
Srek1ip1 |
A |
G |
13: 104,970,798 (GRCm39) |
E83G |
probably benign |
Het |
Srgap3 |
A |
C |
6: 112,699,779 (GRCm39) |
N1090K |
probably benign |
Het |
Sult2a6 |
A |
C |
7: 13,987,327 (GRCm39) |
|
probably null |
Het |
Tacc2 |
T |
A |
7: 130,223,888 (GRCm39) |
I191N |
probably damaging |
Het |
Thoc3 |
A |
G |
13: 54,615,708 (GRCm39) |
S119P |
probably damaging |
Het |
Tirap |
A |
G |
9: 35,100,052 (GRCm39) |
S211P |
probably benign |
Het |
Tle4 |
T |
C |
19: 14,429,876 (GRCm39) |
T632A |
probably benign |
Het |
Tnfaip8l2 |
T |
A |
3: 95,047,486 (GRCm39) |
I126F |
probably benign |
Het |
Txnrd1 |
A |
G |
10: 82,710,480 (GRCm39) |
T114A |
probably benign |
Het |
Vmn2r14 |
A |
G |
5: 109,369,342 (GRCm39) |
L77P |
probably damaging |
Het |
Wwc1 |
G |
A |
11: 35,758,198 (GRCm39) |
T716I |
probably damaging |
Het |
Yod1 |
A |
G |
1: 130,645,360 (GRCm39) |
K47R |
probably benign |
Het |
Zfhx2 |
A |
T |
14: 55,304,201 (GRCm39) |
M1261K |
probably benign |
Het |
Zfhx3 |
T |
C |
8: 109,583,448 (GRCm39) |
I1105T |
possibly damaging |
Het |
Zfp9 |
C |
A |
6: 118,441,353 (GRCm39) |
K436N |
probably damaging |
Het |
Zfp979 |
T |
C |
4: 147,697,548 (GRCm39) |
H387R |
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 |
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 |
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 |
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'- CACTGGGAGAGAGTAAGCTTTTG -3'
(R):5'- ATAAATGAGGTACTGCAGTTCGTG -3'
Sequencing Primer
(F):5'- AAAATGCTGGTGACAAGGGTTTCTC -3'
(R):5'- GCAGTTCGTGCGCTAAGC -3'
|
Posted On |
2020-09-02 |