Incidental Mutation 'RF014:Cyb5r4'
ID |
603418 |
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 # |
RF014 (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) |
TGCCCAGGGATGTGACAGACACAC to TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC
at 86922468 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: 99.4%
- 20x: 98.6%
|
Validation Efficiency |
98% (49/50) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5430401F13Rik |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,820 (GRCm39) |
|
probably benign |
Het |
A2ml1 |
T |
C |
6: 128,547,031 (GRCm39) |
N366S |
probably damaging |
Het |
Abca5 |
T |
C |
11: 110,170,580 (GRCm39) |
|
probably null |
Het |
Acaca |
T |
C |
11: 84,122,550 (GRCm39) |
V323A |
probably benign |
Het |
Agbl3 |
T |
A |
6: 34,776,293 (GRCm39) |
D266E |
possibly damaging |
Het |
Aggf1 |
A |
T |
13: 95,507,276 (GRCm39) |
S170T |
possibly damaging |
Het |
Amhr2 |
A |
T |
15: 102,361,589 (GRCm39) |
S467C |
probably benign |
Het |
Begain |
GCCGCC |
GCCGCCACCGCC |
12: 108,999,348 (GRCm39) |
|
probably benign |
Het |
Best3 |
A |
T |
10: 116,840,410 (GRCm39) |
Q280L |
probably damaging |
Het |
Calhm1 |
CTGTGGCTGTGG |
CTGTGGCTGTGGGTGTGGCTGTGG |
19: 47,129,704 (GRCm39) |
|
probably benign |
Het |
Ccdc186 |
A |
G |
19: 56,801,904 (GRCm39) |
L71S |
probably benign |
Het |
Ces1d |
C |
A |
8: 93,902,793 (GRCm39) |
|
probably null |
Het |
Chga |
AGC |
AGCGGC |
12: 102,527,652 (GRCm39) |
|
probably benign |
Het |
Chga |
AGC |
AGCTGC |
12: 102,527,664 (GRCm39) |
|
probably benign |
Het |
Clstn3 |
T |
A |
6: 124,436,225 (GRCm39) |
K212* |
probably null |
Het |
Col16a1 |
TTTTT |
TTTTTCTTTT |
4: 129,986,860 (GRCm39) |
|
probably benign |
Het |
Cpxm2 |
G |
T |
7: 131,672,592 (GRCm39) |
T319K |
possibly damaging |
Het |
Dst |
T |
C |
1: 34,286,760 (GRCm39) |
S3364P |
probably benign |
Het |
Edc4 |
C |
T |
8: 106,611,232 (GRCm39) |
T61M |
probably benign |
Het |
Fndc5 |
A |
G |
4: 129,035,960 (GRCm39) |
H199R |
probably benign |
Het |
Gm43302 |
T |
A |
5: 105,422,623 (GRCm39) |
I470F |
possibly damaging |
Het |
Gne |
G |
T |
4: 44,060,045 (GRCm39) |
A147D |
probably damaging |
Het |
Igkv12-89 |
G |
GCAACGCCAC |
6: 68,812,270 (GRCm39) |
|
probably benign |
Het |
Irf9 |
C |
T |
14: 55,843,334 (GRCm39) |
R179* |
probably null |
Het |
Jakmip1 |
A |
T |
5: 37,331,870 (GRCm39) |
K850M |
possibly damaging |
Het |
Kalrn |
G |
A |
16: 33,860,303 (GRCm39) |
T1884I |
probably benign |
Het |
Krtap28-10 |
CCACCACAGCCACAGCCACCACAGCCACAG |
CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG |
1: 83,019,972 (GRCm39) |
|
probably benign |
Het |
Las1l |
CTCCTCCTTCTCCTCTTCCTC |
CTCCTC |
X: 94,984,263 (GRCm39) |
|
probably benign |
Het |
Lctl |
A |
G |
9: 64,026,212 (GRCm39) |
Y89C |
probably damaging |
Het |
Lpgat1 |
GCC |
GCCTCC |
1: 191,450,665 (GRCm39) |
|
probably benign |
Het |
Luzp2 |
A |
T |
7: 54,821,953 (GRCm39) |
I157F |
probably damaging |
Het |
Lyz3 |
A |
G |
10: 117,070,322 (GRCm39) |
*152Q |
probably null |
Het |
Mamld1 |
GCA |
GCACCA |
X: 70,162,451 (GRCm39) |
|
probably benign |
Het |
Map1a |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,776 (GRCm39) |
|
probably benign |
Het |
Mbd3l1 |
A |
T |
9: 18,396,296 (GRCm39) |
E140D |
possibly damaging |
Het |
Mlh3 |
T |
A |
12: 85,314,803 (GRCm39) |
Q461L |
probably benign |
Het |
Mto1 |
G |
T |
9: 78,355,598 (GRCm39) |
R7L |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,570,676 (GRCm39) |
S579C |
probably damaging |
Het |
Ngfr |
T |
C |
11: 95,469,027 (GRCm39) |
Y117C |
probably damaging |
Het |
Or10aa3 |
A |
T |
1: 173,878,553 (GRCm39) |
I205F |
possibly damaging |
Het |
Or13a23-ps1 |
A |
T |
7: 140,118,690 (GRCm39) |
M87L |
probably benign |
Het |
Or8d2b |
C |
A |
9: 38,789,196 (GRCm39) |
H241Q |
probably benign |
Het |
Plch2 |
A |
G |
4: 155,091,577 (GRCm39) |
S179P |
probably damaging |
Het |
Pogz |
T |
G |
3: 94,785,558 (GRCm39) |
S838A |
possibly damaging |
Het |
Polr1has |
CACCACCACCAC |
CACCACCACCACCACCACCACGACCACCACCAC |
17: 37,275,952 (GRCm39) |
|
probably benign |
Het |
Pot1b |
T |
A |
17: 55,981,106 (GRCm39) |
T303S |
probably benign |
Het |
Pou2f2 |
T |
A |
7: 24,815,162 (GRCm39) |
I72L |
unknown |
Het |
Ptpn4 |
A |
G |
1: 119,612,195 (GRCm39) |
|
probably null |
Het |
Ptprs |
A |
T |
17: 56,723,935 (GRCm39) |
I1686N |
probably damaging |
Het |
Rfx4 |
CTCTCT |
CTCTCTCTCTCTCTCTTTCTCT |
10: 84,694,353 (GRCm39) |
|
probably benign |
Het |
Rnf14 |
T |
A |
18: 38,442,623 (GRCm39) |
V308E |
probably damaging |
Het |
Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,518 (GRCm39) |
|
probably benign |
Het |
Sgo2b |
T |
C |
8: 64,384,439 (GRCm39) |
T186A |
possibly damaging |
Het |
Six3 |
CGG |
CGGTGG |
17: 85,928,784 (GRCm39) |
|
probably benign |
Het |
Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
Spmap2l |
CAGCGATCCTCCCCAGTCCCGCA |
CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA |
5: 77,164,247 (GRCm39) |
|
probably benign |
Het |
Stox1 |
T |
A |
10: 62,500,025 (GRCm39) |
H845L |
probably benign |
Het |
Supt20 |
AGCAGC |
AGCAGCGGCAGC |
3: 54,635,086 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
A |
AGCTGCTGCTGCTGCT |
15: 72,673,132 (GRCm39) |
|
probably benign |
Het |
Trim33 |
T |
C |
3: 103,236,408 (GRCm39) |
V506A |
possibly damaging |
Het |
Uckl1 |
T |
C |
2: 181,211,987 (GRCm39) |
D373G |
probably benign |
Het |
Vmn2r94 |
G |
T |
17: 18,473,549 (GRCm39) |
C492* |
probably null |
Het |
Wdr33 |
A |
G |
18: 32,014,326 (GRCm39) |
D396G |
probably damaging |
Het |
Ypel1 |
C |
T |
16: 16,915,282 (GRCm39) |
V109M |
probably damaging |
Het |
Zbtb11 |
A |
T |
16: 55,800,960 (GRCm39) |
I105L |
probably damaging |
Het |
Zbtb40 |
A |
T |
4: 136,744,617 (GRCm39) |
C268S |
probably benign |
Het |
Zfp36l1 |
T |
A |
12: 80,156,518 (GRCm39) |
M288L |
probably benign |
Het |
Zfp384 |
CC |
CCAAGGCCCAGGAC |
6: 125,013,429 (GRCm39) |
|
probably benign |
Het |
Zfp87 |
A |
G |
13: 74,523,173 (GRCm39) |
F15S |
probably benign |
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 |
|
RF006:Cyb5r4
|
UTSW |
9 |
86,922,478 (GRCm39) |
small insertion |
probably benign |
|
RF013:Cyb5r4
|
UTSW |
9 |
86,922,485 (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'- CACTGGGAGAGAGTAAGCTTTTGG -3'
(R):5'- AAATGAGGTACTGCAGTTCGTG -3'
Sequencing Primer
(F):5'- GAAAATGCTGGTGACAAGGGTTTC -3'
(R):5'- GCAGTTCGTGCGCTAAGC -3'
|
Posted On |
2019-12-04 |