Incidental Mutation 'R5654:Cyb5r4'
ID |
442179 |
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 |
043300-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5654 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
86904082-86959827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 86929533 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 229
(S229I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168529]
|
AlphaFold |
Q3TDX8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168529
AA Change: S229I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126119 Gene: ENSMUSG00000032872 AA Change: S229I
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 |
0.6388 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
96% (69/72) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
T |
C |
1: 75,151,479 (GRCm39) |
|
probably null |
Het |
Abcc9 |
G |
A |
6: 142,571,371 (GRCm39) |
|
probably benign |
Het |
Acss2 |
T |
C |
2: 155,416,575 (GRCm39) |
|
probably benign |
Het |
Atp8b4 |
G |
A |
2: 126,217,725 (GRCm39) |
T597I |
probably damaging |
Het |
Btaf1 |
A |
T |
19: 36,961,015 (GRCm39) |
N796I |
probably benign |
Het |
Caskin2 |
T |
C |
11: 115,690,905 (GRCm39) |
|
probably null |
Het |
Cdhr2 |
A |
G |
13: 54,884,349 (GRCm39) |
N1295D |
probably benign |
Het |
Cog3 |
G |
A |
14: 75,962,239 (GRCm39) |
T534M |
probably benign |
Het |
Cpne1 |
A |
G |
2: 155,919,561 (GRCm39) |
S303P |
probably damaging |
Het |
Cs |
G |
A |
10: 128,187,086 (GRCm39) |
G74S |
possibly damaging |
Het |
Ddr1 |
C |
T |
17: 35,997,400 (GRCm39) |
A531T |
probably benign |
Het |
Ect2l |
C |
T |
10: 18,018,810 (GRCm39) |
V529M |
probably damaging |
Het |
Edaradd |
C |
A |
13: 12,493,161 (GRCm39) |
R177L |
possibly damaging |
Het |
Esf1 |
T |
C |
2: 140,006,148 (GRCm39) |
D333G |
possibly damaging |
Het |
Fam8a1 |
T |
A |
13: 46,827,814 (GRCm39) |
L334H |
probably damaging |
Het |
Fbxl18 |
A |
G |
5: 142,871,558 (GRCm39) |
I559T |
probably damaging |
Het |
Fcrl2 |
A |
C |
3: 87,164,851 (GRCm39) |
V225G |
probably benign |
Het |
Ido1 |
C |
T |
8: 25,077,819 (GRCm39) |
V83M |
probably damaging |
Het |
Iffo1 |
T |
G |
6: 125,130,030 (GRCm39) |
C419G |
probably damaging |
Het |
Igfals |
A |
T |
17: 25,100,439 (GRCm39) |
Y510F |
probably benign |
Het |
Ipo9 |
A |
T |
1: 135,313,210 (GRCm39) |
Y1006* |
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Jmjd1c |
T |
A |
10: 67,065,785 (GRCm39) |
S1737T |
probably benign |
Het |
Klhl32 |
C |
T |
4: 24,800,805 (GRCm39) |
|
probably null |
Het |
Klk1b11 |
T |
A |
7: 43,427,810 (GRCm39) |
C173S |
probably damaging |
Het |
Klk1b24 |
A |
T |
7: 43,840,889 (GRCm39) |
M106L |
probably benign |
Het |
Lamp1 |
G |
A |
8: 13,221,388 (GRCm39) |
|
probably null |
Het |
Mapk4 |
A |
T |
18: 74,103,365 (GRCm39) |
V48E |
probably damaging |
Het |
Marchf6 |
A |
T |
15: 31,486,082 (GRCm39) |
D395E |
probably damaging |
Het |
Mdp1 |
A |
G |
14: 55,896,465 (GRCm39) |
F157S |
probably damaging |
Het |
Mettl21e |
A |
T |
1: 44,250,255 (GRCm39) |
F50L |
probably damaging |
Het |
Mrgpra2a |
A |
G |
7: 47,077,153 (GRCm39) |
I35T |
probably benign |
Het |
Natd1 |
T |
C |
11: 60,796,892 (GRCm39) |
Y91C |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,633,476 (GRCm39) |
Y2294N |
probably damaging |
Het |
Nrcam |
A |
G |
12: 44,610,841 (GRCm39) |
T520A |
probably benign |
Het |
Nrf1 |
A |
G |
6: 30,117,061 (GRCm39) |
T324A |
probably benign |
Het |
Or10a2 |
G |
A |
7: 106,673,394 (GRCm39) |
A120T |
probably damaging |
Het |
Or4k51 |
T |
A |
2: 111,585,326 (GRCm39) |
I244N |
probably damaging |
Het |
Or52a5 |
A |
C |
7: 103,427,182 (GRCm39) |
D123E |
probably damaging |
Het |
Or5m11b |
A |
G |
2: 85,806,500 (GRCm39) |
I304M |
probably benign |
Het |
Pam |
C |
T |
1: 97,792,123 (GRCm39) |
V433I |
probably benign |
Het |
Pck1 |
T |
A |
2: 173,000,353 (GRCm39) |
Y595N |
probably damaging |
Het |
Per2 |
C |
T |
1: 91,373,223 (GRCm39) |
|
probably null |
Het |
Piezo2 |
G |
C |
18: 63,278,162 (GRCm39) |
F247L |
possibly damaging |
Het |
Pkdcc |
A |
G |
17: 83,523,337 (GRCm39) |
Y148C |
probably damaging |
Het |
Plod2 |
A |
G |
9: 92,475,876 (GRCm39) |
T320A |
probably benign |
Het |
Ppip5k1 |
G |
A |
2: 121,147,157 (GRCm39) |
R1155C |
probably benign |
Het |
Ppp1r15b |
C |
T |
1: 133,059,382 (GRCm39) |
|
probably benign |
Het |
Prkn |
C |
T |
17: 11,456,536 (GRCm39) |
A119V |
probably damaging |
Het |
Ptprz1 |
G |
T |
6: 22,986,133 (GRCm39) |
C311F |
probably damaging |
Het |
Rab11fip3 |
A |
T |
17: 26,235,038 (GRCm39) |
V44E |
probably damaging |
Het |
Rpl5 |
T |
A |
5: 108,051,514 (GRCm39) |
|
probably benign |
Het |
Rttn |
G |
A |
18: 89,066,556 (GRCm39) |
V1201I |
probably benign |
Het |
Sdk1 |
A |
G |
5: 141,921,853 (GRCm39) |
N283S |
probably damaging |
Het |
Shank3 |
T |
A |
15: 89,405,529 (GRCm39) |
N418K |
probably benign |
Het |
Shmt2 |
T |
C |
10: 127,353,668 (GRCm39) |
D499G |
probably benign |
Het |
Slc25a46 |
A |
G |
18: 31,716,293 (GRCm39) |
L403S |
probably damaging |
Het |
Slc5a1 |
A |
G |
5: 33,303,955 (GRCm39) |
T257A |
probably benign |
Het |
Snrnp35 |
T |
C |
5: 124,628,535 (GRCm39) |
V116A |
probably benign |
Het |
Spag9 |
T |
A |
11: 93,981,538 (GRCm39) |
F593I |
probably damaging |
Het |
Tmem171 |
C |
A |
13: 98,828,574 (GRCm39) |
R192L |
probably benign |
Het |
Trappc3l |
T |
A |
10: 33,978,703 (GRCm39) |
L169Q |
unknown |
Het |
Ube2s |
T |
C |
7: 4,811,431 (GRCm39) |
E148G |
probably damaging |
Het |
Uspl1 |
T |
C |
5: 149,146,521 (GRCm39) |
F424S |
probably damaging |
Het |
Vmn1r2 |
T |
C |
4: 3,172,261 (GRCm39) |
V60A |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,829,575 (GRCm39) |
|
probably null |
Het |
Zfp735 |
C |
T |
11: 73,602,964 (GRCm39) |
S636L |
possibly damaging |
Het |
Zswim9 |
G |
A |
7: 12,995,094 (GRCm39) |
S354F |
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 |
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'- TCCTTAGTTAGCAGAAAGAGATATGG -3'
(R):5'- CACGAGTGTACTTTAAAATGAGTGT -3'
Sequencing Primer
(F):5'- TGGGAAAATGGAAGTAGTTAGGAAC -3'
(R):5'- TGGAACTCACCTTGTAGACCAGG -3'
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Posted On |
2016-11-09 |