Incidental Mutation 'R5038:Cyb5r4'
ID |
393120 |
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 |
042628-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5038 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to G
at 86941130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168529]
[ENSMUST00000174294]
|
AlphaFold |
Q3TDX8 |
Predicted Effect |
probably null
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 |
probably benign
Transcript: ENSMUST00000174294
|
SMART Domains |
Protein: ENSMUSP00000133918 Gene: ENSMUSG00000032872
Domain | Start | End | E-Value | Type |
Pfam:NAD_binding_6
|
16 |
89 |
8.7e-8 |
PFAM |
Pfam:NAD_binding_1
|
21 |
88 |
1.7e-9 |
PFAM |
|
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 |
0.9480 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
94% (64/68) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930512M02Rik |
A |
T |
11: 11,539,375 (GRCm39) |
|
probably null |
Het |
Abtb2 |
G |
T |
2: 103,397,408 (GRCm39) |
G113C |
probably damaging |
Het |
Acsm5 |
A |
G |
7: 119,134,034 (GRCm39) |
T272A |
probably damaging |
Het |
Adprs |
C |
T |
4: 126,211,102 (GRCm39) |
E272K |
possibly damaging |
Het |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
Atp7b |
A |
C |
8: 22,518,472 (GRCm39) |
I122S |
possibly damaging |
Het |
B230219D22Rik |
T |
C |
13: 55,847,288 (GRCm39) |
Y134H |
probably damaging |
Het |
Bnc1 |
A |
G |
7: 81,618,462 (GRCm39) |
S868P |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,229,926 (GRCm39) |
E302G |
probably damaging |
Het |
Car1 |
A |
G |
3: 14,835,933 (GRCm39) |
Y129H |
probably damaging |
Het |
Cdh22 |
T |
C |
2: 164,984,197 (GRCm39) |
T352A |
probably benign |
Het |
Ckmt2 |
T |
C |
13: 92,009,282 (GRCm39) |
E215G |
probably benign |
Het |
Dhrs13 |
A |
G |
11: 77,923,256 (GRCm39) |
|
probably benign |
Het |
Dsg1c |
G |
A |
18: 20,397,901 (GRCm39) |
A34T |
probably benign |
Het |
Epb41l1 |
T |
C |
2: 156,363,330 (GRCm39) |
V613A |
probably benign |
Het |
Fam114a1 |
A |
G |
5: 65,166,388 (GRCm39) |
M240V |
probably damaging |
Het |
Gm15455 |
T |
C |
1: 33,877,257 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
T |
G |
9: 66,383,742 (GRCm39) |
|
probably benign |
Het |
Ifna11 |
T |
C |
4: 88,738,314 (GRCm39) |
V40A |
probably benign |
Het |
Ifna15 |
T |
C |
4: 88,476,266 (GRCm39) |
N73D |
probably benign |
Het |
Imp4 |
A |
T |
1: 34,482,016 (GRCm39) |
L45F |
probably damaging |
Het |
Jak3 |
G |
A |
8: 72,138,702 (GRCm39) |
A967T |
probably damaging |
Het |
Krtap19-2 |
A |
T |
16: 88,670,916 (GRCm39) |
Y76* |
probably null |
Het |
Map4k5 |
A |
T |
12: 69,871,388 (GRCm39) |
N492K |
probably damaging |
Het |
Mycbp2 |
C |
T |
14: 103,534,375 (GRCm39) |
R372H |
probably damaging |
Het |
Nos2 |
G |
A |
11: 78,813,140 (GRCm39) |
S16N |
probably benign |
Het |
Nr2c2 |
A |
G |
6: 92,116,803 (GRCm39) |
T2A |
probably damaging |
Het |
Nup188 |
T |
C |
2: 30,199,232 (GRCm39) |
Y267H |
probably damaging |
Het |
Nxph2 |
G |
A |
2: 23,211,556 (GRCm39) |
|
probably null |
Het |
Or5b107 |
T |
A |
19: 13,142,955 (GRCm39) |
D192E |
probably benign |
Het |
Or5b96 |
T |
A |
19: 12,867,770 (GRCm39) |
H57L |
probably damaging |
Het |
Or9i1b |
T |
A |
19: 13,896,822 (GRCm39) |
V146E |
possibly damaging |
Het |
Otof |
C |
T |
5: 30,541,783 (GRCm39) |
E761K |
possibly damaging |
Het |
Pik3r1 |
C |
T |
13: 101,825,952 (GRCm39) |
R37Q |
probably damaging |
Het |
Pkn3 |
T |
C |
2: 29,975,293 (GRCm39) |
|
probably null |
Het |
Pold3 |
A |
G |
7: 99,770,590 (GRCm39) |
V14A |
probably damaging |
Het |
Ptpn14 |
T |
C |
1: 189,519,083 (GRCm39) |
S38P |
probably damaging |
Het |
Raf1 |
G |
A |
6: 115,597,196 (GRCm39) |
Q35* |
probably null |
Het |
Rps3a1 |
C |
A |
3: 86,045,338 (GRCm39) |
E251D |
probably benign |
Het |
Scd1 |
C |
T |
19: 44,390,148 (GRCm39) |
V207M |
probably damaging |
Het |
Shq1 |
A |
G |
6: 100,607,954 (GRCm39) |
V319A |
probably benign |
Het |
Slc4a8 |
T |
C |
15: 100,693,702 (GRCm39) |
Y416H |
probably damaging |
Het |
Slco1a5 |
T |
C |
6: 142,208,363 (GRCm39) |
T143A |
probably benign |
Het |
Slco1a5 |
C |
T |
6: 142,212,090 (GRCm39) |
G90D |
probably damaging |
Het |
Snx9 |
T |
C |
17: 5,937,348 (GRCm39) |
V30A |
probably benign |
Het |
Spdya |
T |
C |
17: 71,895,561 (GRCm39) |
|
probably benign |
Het |
Stat1 |
A |
T |
1: 52,162,368 (GRCm39) |
N75I |
probably damaging |
Het |
Sv2b |
A |
T |
7: 74,807,173 (GRCm39) |
M159K |
probably damaging |
Het |
Tdh |
A |
T |
14: 63,733,575 (GRCm39) |
Y89* |
probably null |
Het |
Tmc7 |
A |
G |
7: 118,142,588 (GRCm39) |
F600S |
probably damaging |
Het |
Trpa1 |
T |
A |
1: 14,981,090 (GRCm39) |
H104L |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,678,984 (GRCm39) |
|
probably benign |
Het |
Vmn1r113 |
A |
G |
7: 20,521,419 (GRCm39) |
I70M |
possibly damaging |
Het |
Vmn1r171 |
A |
G |
7: 23,332,188 (GRCm39) |
M138V |
probably benign |
Het |
Zfc3h1 |
G |
A |
10: 115,240,116 (GRCm39) |
V550I |
probably benign |
Het |
Zfp335 |
G |
T |
2: 164,752,564 (GRCm39) |
S60* |
probably null |
Het |
Zfp7 |
T |
C |
15: 76,776,010 (GRCm39) |
M684T |
probably benign |
Het |
Zfp984 |
T |
A |
4: 147,839,903 (GRCm39) |
H316L |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,193,637 (GRCm39) |
Y1151N |
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 |
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'- TCCTACTACAGAGATGGACGGG -3'
(R):5'- AGGTAACGCAAATAATGAAACCCTG -3'
Sequencing Primer
(F):5'- ATGGACGGGGCAGTCAC -3'
(R):5'- GAAATGAGATCAAAGCACTACGTTC -3'
|
Posted On |
2016-06-15 |