Incidental Mutation 'R1857:Cyb5r4'
ID |
206242 |
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 |
039881-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1857 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 86923332 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 185
(S185L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168529]
|
AlphaFold |
Q3TDX8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168529
AA Change: S185L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000126119 Gene: ENSMUSG00000032872 AA Change: S185L
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 |
0.0898 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.2%
|
Validation Efficiency |
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
A |
8: 111,766,789 (GRCm39) |
I57N |
probably damaging |
Het |
Abca15 |
T |
C |
7: 119,960,592 (GRCm39) |
S685P |
probably damaging |
Het |
Adpgk |
G |
T |
9: 59,222,248 (GRCm39) |
V392L |
probably benign |
Het |
Akap14 |
C |
T |
X: 36,420,779 (GRCm39) |
A476T |
probably damaging |
Het |
Amdhd1 |
A |
T |
10: 93,367,416 (GRCm39) |
I246N |
probably damaging |
Het |
Amhr2 |
T |
A |
15: 102,355,212 (GRCm39) |
L165* |
probably null |
Het |
Atr |
T |
A |
9: 95,747,150 (GRCm39) |
I144N |
probably damaging |
Het |
Ccdc33 |
T |
C |
9: 57,939,991 (GRCm39) |
N750S |
possibly damaging |
Het |
Cdh23 |
A |
G |
10: 60,159,076 (GRCm39) |
I2233T |
probably damaging |
Het |
Cfap46 |
C |
A |
7: 139,233,324 (GRCm39) |
V774F |
probably damaging |
Het |
Cfap69 |
G |
T |
5: 5,632,518 (GRCm39) |
T362K |
possibly damaging |
Het |
Cnih3 |
A |
G |
1: 181,277,638 (GRCm39) |
H101R |
probably damaging |
Het |
Crebrf |
T |
A |
17: 26,961,937 (GRCm39) |
Y345N |
probably benign |
Het |
Cyp2j5 |
T |
C |
4: 96,547,723 (GRCm39) |
E173G |
possibly damaging |
Het |
Cyp3a41b |
T |
A |
5: 145,503,660 (GRCm39) |
I296F |
probably benign |
Het |
Dse |
T |
C |
10: 34,029,225 (GRCm39) |
T622A |
probably benign |
Het |
Duxf4 |
A |
G |
10: 58,071,602 (GRCm39) |
V204A |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,629,059 (GRCm39) |
F4205L |
probably damaging |
Het |
Eif3a |
A |
C |
19: 60,770,635 (GRCm39) |
L71V |
probably damaging |
Het |
Eif3h |
T |
C |
15: 51,662,674 (GRCm39) |
Y124C |
probably damaging |
Het |
Eif4g3 |
A |
T |
4: 137,903,187 (GRCm39) |
Q1169L |
possibly damaging |
Het |
Endod1 |
T |
A |
9: 14,268,405 (GRCm39) |
H360L |
probably benign |
Het |
Fbxo38 |
A |
G |
18: 62,648,489 (GRCm39) |
I683T |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,562,294 (GRCm39) |
T738S |
probably benign |
Het |
Gm1527 |
A |
T |
3: 28,957,539 (GRCm39) |
T148S |
probably damaging |
Het |
Gm4894 |
T |
C |
9: 49,189,976 (GRCm39) |
S84P |
unknown |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Il1f10 |
A |
T |
2: 24,182,817 (GRCm39) |
D31V |
possibly damaging |
Het |
Lrrc56 |
A |
G |
7: 140,787,421 (GRCm39) |
M353V |
probably benign |
Het |
Meiob |
T |
C |
17: 25,042,544 (GRCm39) |
V124A |
probably damaging |
Het |
Mmp11 |
A |
T |
10: 75,764,191 (GRCm39) |
D91E |
probably benign |
Het |
Mpped2 |
T |
C |
2: 106,613,989 (GRCm39) |
Y108H |
probably damaging |
Het |
Mroh9 |
A |
G |
1: 162,866,714 (GRCm39) |
V674A |
probably damaging |
Het |
Mtor |
G |
T |
4: 148,565,336 (GRCm39) |
Q1015H |
probably damaging |
Het |
Mylk3 |
G |
A |
8: 86,055,223 (GRCm39) |
T711I |
probably damaging |
Het |
Ndufaf6 |
G |
T |
4: 11,053,474 (GRCm39) |
H277Q |
probably benign |
Het |
Neurl4 |
G |
T |
11: 69,796,361 (GRCm39) |
G435V |
probably damaging |
Het |
Nipal2 |
A |
G |
15: 34,678,779 (GRCm39) |
S21P |
possibly damaging |
Het |
Nphp1 |
T |
A |
2: 127,612,296 (GRCm39) |
D217V |
probably benign |
Het |
Nphp3 |
T |
C |
9: 103,898,493 (GRCm39) |
I432T |
possibly damaging |
Het |
Oprd1 |
T |
G |
4: 131,840,992 (GRCm39) |
D322A |
probably damaging |
Het |
Or10ag2 |
T |
C |
2: 87,248,992 (GRCm39) |
L198P |
probably damaging |
Het |
Or2b28 |
A |
G |
13: 21,531,346 (GRCm39) |
M83V |
possibly damaging |
Het |
Or56a3b |
T |
G |
7: 104,770,751 (GRCm39) |
L29R |
probably benign |
Het |
Pcdh10 |
C |
A |
3: 45,334,372 (GRCm39) |
Q229K |
possibly damaging |
Het |
Pdlim7 |
G |
A |
13: 55,653,858 (GRCm39) |
T253M |
probably damaging |
Het |
Pfdn1 |
C |
A |
18: 36,584,153 (GRCm39) |
M60I |
probably benign |
Het |
Pigc |
T |
G |
1: 161,798,446 (GRCm39) |
S143A |
possibly damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,767,408 (GRCm39) |
D1294G |
possibly damaging |
Het |
Ppp2r1a |
T |
C |
17: 21,181,951 (GRCm39) |
S490P |
possibly damaging |
Het |
Ppp2r3d |
T |
A |
9: 101,090,092 (GRCm39) |
N77I |
probably damaging |
Het |
Pramel17 |
T |
C |
4: 101,692,770 (GRCm39) |
Y410C |
probably damaging |
Het |
Pramel29 |
C |
T |
4: 143,935,091 (GRCm39) |
V217I |
possibly damaging |
Het |
Prl7a2 |
A |
T |
13: 27,843,163 (GRCm39) |
C213* |
probably null |
Het |
Prpf8 |
T |
A |
11: 75,386,249 (GRCm39) |
|
probably null |
Het |
Psmd7 |
A |
T |
8: 108,311,525 (GRCm39) |
N109K |
probably damaging |
Het |
Ptprn |
T |
C |
1: 75,224,549 (GRCm39) |
K936E |
possibly damaging |
Het |
Ro60 |
T |
C |
1: 143,646,488 (GRCm39) |
T86A |
probably benign |
Het |
Ror1 |
A |
T |
4: 100,298,700 (GRCm39) |
Q691L |
probably damaging |
Het |
Sars2 |
A |
G |
7: 28,449,437 (GRCm39) |
M322V |
probably benign |
Het |
Scfd2 |
C |
A |
5: 74,372,962 (GRCm39) |
E638* |
probably null |
Het |
Scgb3a2 |
A |
G |
18: 43,899,900 (GRCm39) |
T63A |
probably benign |
Het |
Slc5a4a |
T |
C |
10: 76,002,569 (GRCm39) |
S242P |
probably benign |
Het |
Smarcd1 |
A |
G |
15: 99,607,295 (GRCm39) |
K382E |
probably damaging |
Het |
Sox5 |
T |
A |
6: 143,906,541 (GRCm39) |
S305C |
probably damaging |
Het |
Sp5 |
C |
A |
2: 70,307,213 (GRCm39) |
H299Q |
possibly damaging |
Het |
Stard13 |
T |
C |
5: 151,018,903 (GRCm39) |
Y60C |
probably damaging |
Het |
Tmprss6 |
A |
G |
15: 78,336,752 (GRCm39) |
F383L |
probably damaging |
Het |
Ttc23 |
T |
C |
7: 67,328,821 (GRCm39) |
|
probably null |
Het |
Ugt2b34 |
T |
C |
5: 87,052,241 (GRCm39) |
T252A |
possibly damaging |
Het |
Vangl2 |
A |
T |
1: 171,837,464 (GRCm39) |
L115Q |
probably damaging |
Het |
Vmn1r42 |
A |
G |
6: 89,821,597 (GRCm39) |
I324T |
probably benign |
Het |
Vwa5b1 |
A |
G |
4: 138,296,413 (GRCm39) |
F1205L |
probably damaging |
Het |
Zfp951 |
G |
C |
5: 104,962,723 (GRCm39) |
T281R |
probably damaging |
Het |
Zscan30 |
A |
G |
18: 24,104,524 (GRCm39) |
|
noncoding transcript |
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 |
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'- CAGTGGTCTGTGCTAACAAAAGC -3'
(R):5'- GGAGCCAGAATACCTAAGTTCTAAAC -3'
Sequencing Primer
(F):5'- AAAAGCACCTTGTTATACACAGG -3'
(R):5'- GAAAAAGGACTCATATCAATAAACTG -3'
|
Posted On |
2014-06-23 |