Incidental Mutation 'RF006:Cyb5r4'
ID |
602831 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyb5r4
|
Ensembl Gene |
ENSMUSG00000032872 |
Gene Name |
cytochrome b5 reductase 4 |
Synonyms |
Ncb5or, 2810034J18Rik, B5+B5R, b5/b5r |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
RF006 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
small insertion (8 aa in frame mutation) |
DNA Base Change (assembly) |
TGTGACAGACACACTGCCCAGGGAAG to TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG
at 86922478 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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
Validation Efficiency |
97% (36/37) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd7 |
GTT |
GT |
2: 3,341,736 (GRCm39) |
|
probably null |
Het |
Acp7 |
A |
T |
7: 28,314,204 (GRCm39) |
N330K |
possibly damaging |
Het |
Adam25 |
A |
T |
8: 41,208,834 (GRCm39) |
H700L |
probably benign |
Het |
Alg9 |
GGGTGG |
GGGTGGTGG |
9: 50,686,717 (GRCm39) |
|
probably benign |
Het |
Atp8b3 |
A |
T |
10: 80,362,070 (GRCm39) |
V689E |
probably benign |
Het |
Atxn2l |
A |
G |
7: 126,095,063 (GRCm39) |
V533A |
probably benign |
Het |
Catsperb |
G |
A |
12: 101,542,238 (GRCm39) |
|
probably null |
Het |
Ccdc121 |
C |
T |
5: 31,644,894 (GRCm39) |
Q216* |
probably null |
Het |
Ccdc13 |
T |
C |
9: 121,643,273 (GRCm39) |
K376R |
probably damaging |
Het |
Ccdc170 |
C |
CCAA |
10: 4,511,030 (GRCm39) |
|
probably benign |
Het |
Cdh9 |
G |
C |
15: 16,855,916 (GRCm39) |
R652P |
probably damaging |
Het |
Cenpf |
A |
C |
1: 189,389,583 (GRCm39) |
C1416W |
probably damaging |
Het |
Chga |
GCA |
GCATCA |
12: 102,527,671 (GRCm39) |
|
probably benign |
Het |
Dennd3 |
T |
C |
15: 73,419,441 (GRCm39) |
I744T |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 31,029,832 (GRCm39) |
R491Q |
probably benign |
Het |
Eif4a2 |
A |
T |
16: 22,929,028 (GRCm39) |
M188L |
possibly damaging |
Het |
Esf1 |
CTCCTCTTC |
CTC |
2: 140,006,294 (GRCm39) |
|
probably benign |
Het |
Fat3 |
T |
C |
9: 15,909,913 (GRCm39) |
I2030V |
probably benign |
Het |
Gab3 |
CTT |
CTTTTT |
X: 74,043,633 (GRCm39) |
|
probably benign |
Het |
Gins4 |
A |
T |
8: 23,717,183 (GRCm39) |
V195E |
possibly damaging |
Het |
Gm17402 |
TCCTCCTCC |
TCCTCCTCCCCCTCCTCC |
3: 67,272,892 (GRCm39) |
|
probably benign |
Het |
Gm17604 |
CTCTCTTTC |
CTC |
X: 163,786,814 (GRCm39) |
|
probably null |
Het |
Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,128 (GRCm39) |
|
probably benign |
Het |
Gnpnat1 |
T |
A |
14: 45,620,900 (GRCm39) |
|
probably null |
Het |
Inpp4a |
A |
C |
1: 37,427,908 (GRCm39) |
N651T |
possibly damaging |
Het |
Ireb2 |
T |
C |
9: 54,788,768 (GRCm39) |
F81L |
possibly damaging |
Het |
Kcnh3 |
T |
A |
15: 99,137,809 (GRCm39) |
|
probably null |
Het |
Kmt2b |
CTCCTC |
CTCCTCATCCTC |
7: 30,285,802 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
TG |
TGCTGTGG |
5: 25,520,770 (GRCm39) |
|
probably benign |
Het |
Myt1 |
T |
C |
2: 181,439,566 (GRCm39) |
S405P |
probably damaging |
Het |
Net1 |
T |
C |
13: 3,937,406 (GRCm39) |
T245A |
probably benign |
Het |
Nkx2-1 |
T |
C |
12: 56,580,332 (GRCm39) |
T203A |
probably damaging |
Het |
Oas3 |
T |
C |
5: 120,912,165 (GRCm39) |
E75G |
probably damaging |
Het |
Pappa |
T |
A |
4: 65,242,110 (GRCm39) |
D1491E |
probably benign |
Het |
Pkhd1l1 |
C |
A |
15: 44,366,634 (GRCm39) |
T704K |
probably benign |
Het |
Pkhd1l1 |
TT |
TTTTTTTTTGT |
15: 44,421,903 (GRCm39) |
|
probably benign |
Het |
Plscr1l1 |
A |
T |
9: 92,234,702 (GRCm39) |
I146F |
possibly damaging |
Het |
Ppp1r8 |
TCTCTCAC |
TC |
4: 132,557,928 (GRCm39) |
|
probably benign |
Het |
Ppp2r3c |
T |
A |
12: 55,340,600 (GRCm39) |
I157F |
probably benign |
Het |
Pramel34 |
A |
T |
5: 93,784,562 (GRCm39) |
C301S |
probably benign |
Het |
Rspo4 |
C |
T |
2: 151,709,797 (GRCm39) |
|
probably null |
Het |
Rtn4 |
T |
C |
11: 29,656,919 (GRCm39) |
S358P |
possibly damaging |
Het |
Siglecg |
T |
A |
7: 43,058,288 (GRCm39) |
Y58* |
probably null |
Het |
Slc4a1 |
C |
T |
11: 102,247,542 (GRCm39) |
|
probably null |
Het |
Slc9b1 |
CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG |
CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG |
3: 135,063,303 (GRCm39) |
|
probably benign |
Het |
Smc2 |
T |
A |
4: 52,442,276 (GRCm39) |
D64E |
probably benign |
Het |
Spaca1 |
CTCGC |
CTCGCTATCGC |
4: 34,049,853 (GRCm39) |
|
probably benign |
Het |
Srrm2 |
A |
G |
17: 24,031,562 (GRCm39) |
S236G |
unknown |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
Strn |
TGCTCCCTTACCCCAGTC |
TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC |
17: 78,984,700 (GRCm39) |
|
probably null |
Het |
Tfeb |
CAG |
CAGGAG |
17: 48,097,038 (GRCm39) |
|
probably benign |
Het |
Tktl2 |
A |
T |
8: 66,965,504 (GRCm39) |
E354V |
probably benign |
Het |
Tpte |
A |
G |
8: 22,796,959 (GRCm39) |
T94A |
probably benign |
Het |
Usp40 |
A |
C |
1: 87,894,917 (GRCm39) |
S868A |
possibly damaging |
Het |
Vmn2r24 |
G |
A |
6: 123,783,378 (GRCm39) |
C526Y |
probably damaging |
Het |
Vmn2r58 |
CAAAATGATGTAGCACTT |
C |
7: 41,486,383 (GRCm39) |
|
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 |
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 |
86,922,494 (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'- CTACCACTGGGAGAGAGTAAGC -3'
(R):5'- ATGAGGTACTGCAGTTCGTG -3'
Sequencing Primer
(F):5'- AAAATGCTGGTGACAAGGGTTTCTC -3'
(R):5'- GCAGTTCGTGCGCTAAGC -3'
|
Posted On |
2019-12-04 |