Incidental Mutation 'R4655:Cyb5r4'
| ID |
352364 |
| 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 |
041915-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4655 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86941482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 68
(K68E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168529]
[ENSMUST00000174294]
|
| AlphaFold |
Q3TDX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168529
AA Change: K449E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126119
Gene: ENSMUSG00000032872
AA Change: K449E
| 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
AA Change: K68E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000133918
Gene: ENSMUSG00000032872
AA Change: K68E
| 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 |
0.0593 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (79/82) |
| 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 |
|---|
| 4921509C19Rik |
A |
G |
2: 151,314,778 (GRCm39) |
V300A |
probably benign |
Het |
| Aadacl4fm2 |
A |
T |
4: 144,281,645 (GRCm39) |
F382L |
probably benign |
Het |
| Abca4 |
A |
G |
3: 121,941,147 (GRCm39) |
N405S |
possibly damaging |
Het |
| Acsl3 |
A |
G |
1: 78,668,063 (GRCm39) |
T212A |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,986,065 (GRCm39) |
K2450E |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,096,403 (GRCm39) |
R2426H |
probably benign |
Het |
| Akr1c6 |
T |
C |
13: 4,499,428 (GRCm39) |
V266A |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,889,232 (GRCm39) |
V11A |
probably benign |
Het |
| Cdc14a |
T |
A |
3: 116,122,136 (GRCm39) |
H228L |
probably damaging |
Het |
| Cgn |
G |
A |
3: 94,686,559 (GRCm39) |
Q248* |
probably null |
Het |
| Cux2 |
G |
A |
5: 122,023,997 (GRCm39) |
T92M |
possibly damaging |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,558 (GRCm39) |
N2918S |
probably benign |
Het |
| Dyrk1b |
T |
C |
7: 27,885,176 (GRCm39) |
V438A |
probably damaging |
Het |
| Eml1 |
G |
A |
12: 108,500,972 (GRCm39) |
D625N |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,740,889 (GRCm39) |
|
probably null |
Het |
| Ephb3 |
G |
A |
16: 21,040,958 (GRCm39) |
G672D |
probably damaging |
Het |
| Evx1 |
A |
T |
6: 52,291,182 (GRCm39) |
D118V |
probably damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,787,037 (GRCm39) |
L300S |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,837 (GRCm39) |
F520L |
probably damaging |
Het |
| Flt3 |
G |
A |
5: 147,286,403 (GRCm39) |
P728S |
possibly damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,314,001 (GRCm39) |
E437G |
possibly damaging |
Het |
| Gldc |
A |
T |
19: 30,138,102 (GRCm39) |
|
probably benign |
Het |
| Gm18856 |
T |
C |
13: 14,140,232 (GRCm39) |
|
probably benign |
Het |
| Gm7358 |
A |
T |
17: 14,279,410 (GRCm39) |
|
noncoding transcript |
Het |
| Grifin |
A |
G |
5: 140,550,300 (GRCm39) |
V47A |
possibly damaging |
Het |
| H3c7 |
T |
C |
13: 23,728,923 (GRCm39) |
V90A |
probably benign |
Het |
| Hddc2 |
G |
T |
10: 31,204,016 (GRCm39) |
|
probably benign |
Het |
| Hkdc1 |
T |
A |
10: 62,236,242 (GRCm39) |
R433S |
probably benign |
Het |
| Htt |
A |
G |
5: 35,063,476 (GRCm39) |
D2918G |
probably benign |
Het |
| Itga2 |
A |
C |
13: 115,009,805 (GRCm39) |
D383E |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,458,254 (GRCm39) |
C2007Y |
probably damaging |
Het |
| Krt42 |
C |
A |
11: 100,160,671 (GRCm39) |
Q9H |
probably damaging |
Het |
| Lyrm7 |
T |
C |
11: 54,739,434 (GRCm39) |
Q72R |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,793,122 (GRCm39) |
S424G |
probably benign |
Het |
| Mtr |
A |
G |
13: 12,242,679 (GRCm39) |
V457A |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,781,523 (GRCm39) |
L1359P |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,117,311 (GRCm39) |
L4087P |
probably damaging |
Het |
| Npl |
T |
C |
1: 153,391,152 (GRCm39) |
D201G |
probably damaging |
Het |
| Or1af1 |
A |
G |
2: 37,109,885 (GRCm39) |
N128S |
probably benign |
Het |
| Or8b1c |
C |
A |
9: 38,384,120 (GRCm39) |
P26T |
probably damaging |
Het |
| Or8k3 |
A |
G |
2: 86,059,037 (GRCm39) |
S93P |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,732,397 (GRCm39) |
|
probably benign |
Het |
| Pdp2 |
A |
G |
8: 105,321,168 (GRCm39) |
D339G |
probably benign |
Het |
| Pfdn6 |
A |
T |
17: 34,159,014 (GRCm39) |
Y16* |
probably null |
Het |
| Pilra |
C |
T |
5: 137,833,588 (GRCm39) |
|
probably null |
Het |
| Prrc2a |
A |
T |
17: 35,374,590 (GRCm39) |
N1353K |
probably benign |
Het |
| Prss3l |
T |
A |
6: 41,422,984 (GRCm39) |
I6F |
probably benign |
Het |
| Ptger4 |
C |
A |
15: 5,272,545 (GRCm39) |
A50S |
probably benign |
Het |
| Pus10 |
T |
C |
11: 23,622,707 (GRCm39) |
V109A |
probably benign |
Het |
| Pus3 |
A |
C |
9: 35,476,228 (GRCm39) |
D39A |
probably benign |
Het |
| Rab44 |
A |
G |
17: 29,358,168 (GRCm39) |
N119D |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,454,876 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
T |
A |
14: 70,033,438 (GRCm39) |
I511F |
probably damaging |
Het |
| Sfxn1 |
C |
A |
13: 54,246,457 (GRCm39) |
A167D |
probably benign |
Het |
| Slc12a6 |
A |
G |
2: 112,188,111 (GRCm39) |
|
probably null |
Het |
| Smyd4 |
C |
T |
11: 75,281,558 (GRCm39) |
L344F |
probably damaging |
Het |
| Srsf11 |
A |
G |
3: 157,728,972 (GRCm39) |
V93A |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,063,581 (GRCm39) |
I224T |
possibly damaging |
Het |
| Tmc6 |
A |
T |
11: 117,663,868 (GRCm39) |
S479R |
possibly damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,087,702 (GRCm39) |
M296V |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,013,894 (GRCm39) |
N382D |
possibly damaging |
Het |
| Tpcn1 |
A |
G |
5: 120,677,322 (GRCm39) |
S662P |
probably damaging |
Het |
| Tppp |
G |
T |
13: 74,178,983 (GRCm39) |
R141S |
probably benign |
Het |
| Ttc21a |
A |
G |
9: 119,790,828 (GRCm39) |
D858G |
possibly damaging |
Het |
| Tuba3a |
A |
G |
6: 125,258,130 (GRCm39) |
S287P |
possibly damaging |
Het |
| Unc80 |
T |
G |
1: 66,710,821 (GRCm39) |
S2697A |
probably benign |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,026 (GRCm39) |
V235A |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,375 (GRCm39) |
I650N |
probably damaging |
Het |
| Vmn2r53 |
G |
A |
7: 12,315,932 (GRCm39) |
T629I |
possibly damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,610,555 (GRCm39) |
T46A |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,229,973 (GRCm39) |
C46* |
probably null |
Het |
| Vps13b |
T |
C |
15: 35,770,835 (GRCm39) |
S2093P |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,711,893 (GRCm39) |
R2375G |
probably damaging |
Het |
| Wnk2 |
T |
G |
13: 49,210,359 (GRCm39) |
E1820A |
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 |
|
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'- CTCACCCACTCAGAACGTAGTG -3'
(R):5'- TGAAGCCAGTCTGCTGAAC -3'
Sequencing Primer
(F):5'- ACGTAGTGCTTTGATCTCATTTCAG -3'
(R):5'- TGAACAATGGGAGACATGCCTCTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation