Incidental Mutation 'R1488:Cyb5r4'
ID |
165508 |
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 |
039540-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1488 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to G
at 86911591 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 88
(Y88*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168529]
|
AlphaFold |
Q3TDX8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000168529
AA Change: Y88*
|
SMART Domains |
Protein: ENSMUSP00000126119 Gene: ENSMUSG00000032872 AA Change: Y88*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
Validation Efficiency |
100% (53/53) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc1l2 |
A |
G |
6: 48,910,381 (GRCm39) |
N691S |
possibly damaging |
Het |
Arhgap23 |
A |
G |
11: 97,391,685 (GRCm39) |
S1401G |
possibly damaging |
Het |
Art2b |
A |
C |
7: 101,229,414 (GRCm39) |
F162V |
probably damaging |
Het |
Atg4c |
T |
A |
4: 99,109,479 (GRCm39) |
W149R |
probably damaging |
Het |
Atxn1l |
A |
G |
8: 110,460,049 (GRCm39) |
I71T |
probably benign |
Het |
Axdnd1 |
T |
A |
1: 156,176,530 (GRCm39) |
L748F |
probably damaging |
Het |
Bdh2 |
A |
G |
3: 135,002,602 (GRCm39) |
Y157C |
probably damaging |
Het |
C2cd4a |
G |
T |
9: 67,738,990 (GRCm39) |
R18S |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,560,526 (GRCm39) |
H839R |
probably damaging |
Het |
Ccdc24 |
C |
A |
4: 117,727,765 (GRCm39) |
S134I |
possibly damaging |
Het |
Cd55 |
G |
T |
1: 130,376,115 (GRCm39) |
T70K |
probably damaging |
Het |
Cdh10 |
A |
T |
15: 19,013,349 (GRCm39) |
I650F |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,789,925 (GRCm39) |
K470N |
possibly damaging |
Het |
Csn2 |
G |
A |
5: 87,842,755 (GRCm39) |
Q91* |
probably null |
Het |
Ctsh |
G |
A |
9: 89,953,944 (GRCm39) |
D218N |
possibly damaging |
Het |
Dgkq |
A |
G |
5: 108,798,743 (GRCm39) |
F601S |
probably damaging |
Het |
Eci2 |
A |
G |
13: 35,161,916 (GRCm39) |
V352A |
probably benign |
Het |
Krt28 |
T |
C |
11: 99,255,997 (GRCm39) |
T421A |
probably benign |
Het |
Lamp5 |
T |
C |
2: 135,911,011 (GRCm39) |
V248A |
probably benign |
Het |
Lin9 |
T |
A |
1: 180,515,850 (GRCm39) |
L483Q |
possibly damaging |
Het |
Lrp1b |
C |
A |
2: 41,392,036 (GRCm39) |
M509I |
probably benign |
Het |
Lrrfip1 |
T |
C |
1: 91,042,354 (GRCm39) |
V253A |
probably damaging |
Het |
Mpdz |
C |
A |
4: 81,266,945 (GRCm39) |
E981* |
probably null |
Het |
Mpo |
A |
C |
11: 87,688,256 (GRCm39) |
N305T |
probably damaging |
Het |
Or2y1 |
A |
G |
11: 49,385,945 (GRCm39) |
E195G |
probably benign |
Het |
Or51a24 |
T |
C |
7: 103,733,859 (GRCm39) |
I143V |
probably benign |
Het |
Or5p79 |
A |
T |
7: 108,221,696 (GRCm39) |
I226F |
probably damaging |
Het |
Papss2 |
T |
C |
19: 32,614,490 (GRCm39) |
S69P |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,652,941 (GRCm39) |
T470A |
possibly damaging |
Het |
Plce1 |
A |
G |
19: 38,705,247 (GRCm39) |
D884G |
possibly damaging |
Het |
Prex2 |
T |
A |
1: 11,263,752 (GRCm39) |
I1239K |
probably benign |
Het |
Prkd2 |
T |
A |
7: 16,592,364 (GRCm39) |
F625I |
probably damaging |
Het |
Rab20 |
A |
T |
8: 11,504,268 (GRCm39) |
V144E |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,371,715 (GRCm39) |
N4840S |
probably benign |
Het |
Scaf8 |
T |
G |
17: 3,247,872 (GRCm39) |
M1065R |
probably damaging |
Het |
Slco3a1 |
A |
G |
7: 73,996,449 (GRCm39) |
L319P |
possibly damaging |
Het |
Slit1 |
A |
G |
19: 41,596,824 (GRCm39) |
C1092R |
probably damaging |
Het |
Tlr4 |
A |
G |
4: 66,757,786 (GRCm39) |
D193G |
probably damaging |
Het |
Tmem145 |
T |
A |
7: 25,006,860 (GRCm39) |
|
probably null |
Het |
Tmem184a |
T |
A |
5: 139,793,395 (GRCm39) |
K235N |
probably benign |
Het |
Tnpo1 |
A |
T |
13: 98,993,415 (GRCm39) |
D590E |
probably damaging |
Het |
Trio |
C |
A |
15: 27,741,053 (GRCm39) |
G2724V |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,696,301 (GRCm39) |
Y34F |
possibly damaging |
Het |
Tuba4a |
T |
C |
1: 75,193,045 (GRCm39) |
T190A |
probably benign |
Het |
Tubgcp4 |
T |
G |
2: 121,007,031 (GRCm39) |
V136G |
possibly damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn1r74 |
T |
C |
7: 11,581,510 (GRCm39) |
I270T |
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,013,922 (GRCm39) |
E238V |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,786,137 (GRCm39) |
F313L |
probably benign |
Het |
Zfp710 |
T |
C |
7: 79,731,752 (GRCm39) |
Y310H |
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 |
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 |
86,922,478 (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'- CACCATCACATGGATCTGGGCTTAAA -3'
(R):5'- ATGAATGCAAGCATTTCCTTCCTCCAA -3'
Sequencing Primer
(F):5'- tcactggcatttaggaaggac -3'
(R):5'- AATGTCTCACTGCTAAGTCCACG -3'
|
Posted On |
2014-03-28 |