Incidental Mutation 'RF024:Cyb5r4'
ID |
604068 |
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 # |
RF024 (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) |
ACACTGCCCAGGGA to ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA
at 86922488 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: 99.2%
- 20x: 98.3%
|
Validation Efficiency |
98% (55/56) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
G |
T |
4: 53,049,125 (GRCm39) |
T1651N |
probably damaging |
Het |
Abca17 |
T |
TACCTG |
17: 24,506,706 (GRCm39) |
|
probably null |
Het |
Adgra3 |
A |
T |
5: 50,170,729 (GRCm39) |
|
probably null |
Het |
Ank1 |
T |
A |
8: 23,609,360 (GRCm39) |
F1380I |
probably benign |
Het |
Apcs |
A |
T |
1: 172,721,809 (GRCm39) |
M179K |
probably damaging |
Het |
Asb7 |
C |
T |
7: 66,297,631 (GRCm39) |
R287Q |
probably damaging |
Het |
Begain |
G |
GCCGCCT |
12: 108,999,363 (GRCm39) |
|
probably null |
Het |
Cacna2d1 |
A |
G |
5: 16,230,774 (GRCm39) |
T69A |
possibly damaging |
Het |
Ccdc170 |
CCA |
CCAACA |
10: 4,511,024 (GRCm39) |
|
probably benign |
Het |
Ccdc69 |
A |
G |
11: 54,951,349 (GRCm39) |
L24P |
probably damaging |
Het |
Cdh16 |
T |
G |
8: 105,343,684 (GRCm39) |
N604T |
probably damaging |
Het |
Cfap251 |
GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
GAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
5: 123,391,946 (GRCm39) |
|
probably benign |
Het |
Cfap251 |
GAAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
GAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
5: 123,391,952 (GRCm39) |
|
probably benign |
Het |
Cfap251 |
GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
GGAAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGGAAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
5: 123,391,951 (GRCm39) |
|
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,880,741 (GRCm39) |
V149A |
probably benign |
Het |
Dnmt1 |
CAGTTCCTACCTCGTT |
CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT |
9: 20,821,426 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
ACCTCGTT |
ACCTCGTTTTGGGGGCGGAGCACAGTTCCTCCCTCGTT |
9: 20,821,434 (GRCm39) |
|
probably benign |
Het |
Efhd2 |
CCGCCG |
CCGCCGACGCCG |
4: 141,602,073 (GRCm39) |
|
probably benign |
Het |
Enah |
GTGGCGGC |
G |
1: 181,749,499 (GRCm39) |
|
probably null |
Het |
Entpd2 |
CTT |
CTTT |
2: 25,290,907 (GRCm39) |
|
probably null |
Het |
Epha2 |
CCCCC |
CCCCCC |
4: 141,050,717 (GRCm39) |
|
unknown |
Het |
Fam114a2 |
T |
C |
11: 57,383,859 (GRCm39) |
T359A |
probably benign |
Het |
Farp1 |
A |
G |
14: 121,474,560 (GRCm39) |
I258V |
probably damaging |
Het |
Fbxw28 |
G |
T |
9: 109,167,594 (GRCm39) |
Y54* |
probably null |
Het |
Gabre |
CAGGCTCA |
C |
X: 71,313,783 (GRCm39) |
|
probably null |
Het |
Gprc5d |
A |
T |
6: 135,093,517 (GRCm39) |
L130Q |
probably damaging |
Het |
H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
Herc2 |
C |
T |
7: 55,876,273 (GRCm39) |
R4429C |
probably damaging |
Het |
Kif21b |
A |
T |
1: 136,086,079 (GRCm39) |
T817S |
probably damaging |
Het |
Kl |
A |
C |
5: 150,876,885 (GRCm39) |
Y235S |
probably benign |
Het |
Klk1b5 |
T |
A |
7: 43,491,798 (GRCm39) |
V20D |
possibly damaging |
Het |
Krtap28-10 |
TCCCACA |
TCCCACACCCACA |
1: 83,019,844 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CAC |
CACGACAGCCACAGCAAC |
1: 83,019,973 (GRCm39) |
|
probably benign |
Het |
Lamc2 |
T |
A |
1: 153,027,801 (GRCm39) |
T208S |
possibly damaging |
Het |
Map1a |
GCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA |
2: 121,136,788 (GRCm39) |
|
probably benign |
Het |
Map3k5 |
A |
T |
10: 19,975,918 (GRCm39) |
N804I |
probably damaging |
Het |
Map6d1 |
G |
A |
16: 20,059,750 (GRCm39) |
T105I |
probably benign |
Het |
Mbd1 |
TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC |
TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC |
18: 74,406,644 (GRCm39) |
|
probably benign |
Het |
Mbd1 |
GTCTTCGTCTGCATCTGCATCTGCATCT |
GTCT |
18: 74,406,681 (GRCm39) |
|
probably benign |
Het |
Mrgprx1 |
A |
AGAC |
7: 47,671,259 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
C |
A |
1: 88,170,207 (GRCm39) |
L710M |
probably damaging |
Het |
Mrtfa |
TTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
15: 80,902,456 (GRCm39) |
|
probably benign |
Het |
Msmb |
A |
G |
14: 31,880,047 (GRCm39) |
D79G |
probably damaging |
Het |
Nab2 |
A |
T |
10: 127,500,233 (GRCm39) |
D286E |
probably benign |
Het |
Nrxn1 |
G |
A |
17: 90,670,304 (GRCm39) |
R1144C |
probably damaging |
Het |
Otog |
A |
T |
7: 45,937,093 (GRCm39) |
T1601S |
probably damaging |
Het |
Pan2 |
G |
A |
10: 128,151,404 (GRCm39) |
E842K |
probably benign |
Het |
Pcca |
C |
T |
14: 122,922,310 (GRCm39) |
T357I |
probably damaging |
Het |
Pcnx1 |
C |
T |
12: 81,964,501 (GRCm39) |
P223S |
probably damaging |
Het |
Polr1has |
CACCACCACCACCAC |
CACCACCACCACCACCACCACTACCACCACCACCAC |
17: 37,275,949 (GRCm39) |
|
probably benign |
Het |
Prop1 |
A |
C |
11: 50,841,957 (GRCm39) |
Y150D |
possibly damaging |
Het |
Prss56 |
T |
C |
1: 87,114,892 (GRCm39) |
L465P |
probably benign |
Het |
Psip1 |
T |
C |
4: 83,378,735 (GRCm39) |
I353M |
probably damaging |
Het |
Rapgef3 |
A |
C |
15: 97,658,621 (GRCm39) |
H170Q |
probably benign |
Het |
Rasal2 |
A |
T |
1: 156,975,360 (GRCm39) |
S1150T |
probably damaging |
Het |
Rtbdn |
C |
CAGCGGA |
8: 85,682,808 (GRCm39) |
|
probably benign |
Het |
Sap30bp |
T |
A |
11: 115,851,333 (GRCm39) |
I135N |
probably damaging |
Het |
Sbp |
ATG |
ATGCTGACAACAAAGCTG |
17: 24,164,361 (GRCm39) |
|
probably benign |
Het |
Scpppq1 |
A |
C |
5: 104,222,725 (GRCm39) |
|
probably null |
Het |
Slc35e4 |
A |
T |
11: 3,857,960 (GRCm39) |
L215Q |
possibly damaging |
Het |
Slc6a20b |
A |
T |
9: 123,427,407 (GRCm39) |
|
probably benign |
Het |
Smarca2 |
CAGC |
CAGCCCAAGC |
19: 26,608,420 (GRCm39) |
|
probably benign |
Het |
Surf4 |
A |
T |
2: 26,812,179 (GRCm39) |
I183N |
probably benign |
Het |
Tcof1 |
CAG |
CAGAAG |
18: 60,968,810 (GRCm39) |
|
probably benign |
Het |
Timm23 |
T |
A |
14: 31,902,512 (GRCm39) |
*210C |
probably null |
Het |
Tnfaip8 |
ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
AC |
18: 50,179,898 (GRCm39) |
|
probably benign |
Het |
Trim66 |
A |
T |
7: 109,059,947 (GRCm39) |
L813Q |
possibly damaging |
Het |
Trip10 |
G |
A |
17: 57,562,045 (GRCm39) |
A224T |
probably benign |
Het |
Ttn |
T |
A |
2: 76,738,369 (GRCm39) |
I4103F |
unknown |
Het |
Ttn |
T |
C |
2: 76,737,943 (GRCm39) |
T4245A |
unknown |
Het |
Ubn2 |
T |
A |
6: 38,440,563 (GRCm39) |
M313K |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,028,896 (GRCm39) |
N521S |
|
Het |
Utp20 |
A |
T |
10: 88,661,319 (GRCm39) |
D29E |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,790,363 (GRCm39) |
V450E |
probably benign |
Het |
Wnt6 |
A |
T |
1: 74,821,980 (GRCm39) |
D187V |
probably damaging |
Het |
Zc3h14 |
T |
C |
12: 98,725,120 (GRCm39) |
C261R |
probably damaging |
Het |
Zfp384 |
GCCCAGGC |
GCCCAGGCCCAGCCCCAGGC |
6: 125,013,452 (GRCm39) |
|
probably benign |
Het |
Zfp395 |
C |
T |
14: 65,622,874 (GRCm39) |
S3F |
unknown |
Het |
Zfp583 |
T |
A |
7: 6,319,981 (GRCm39) |
I344F |
probably damaging |
Het |
Zfp599 |
A |
C |
9: 22,165,180 (GRCm39) |
V65G |
probably benign |
Het |
Zfp808 |
T |
C |
13: 62,319,113 (GRCm39) |
V114A |
probably benign |
Het |
Zfp933 |
G |
A |
4: 147,910,898 (GRCm39) |
H233Y |
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 |
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 |
|
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 |
|
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'- AATGGCTACCACTGGGAGAG -3'
(R):5'- GATAAATGAGGTACTGCAGTTCG -3'
Sequencing Primer
(F):5'- AAAATGCTGGTGACAAGGGTTTCTC -3'
(R):5'- GCAGTTCGTGCGCTAAGC -3'
|
Posted On |
2019-12-04 |