Incidental Mutation 'R8333:Cyb5rl'
ID |
644469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyb5rl
|
Ensembl Gene |
ENSMUSG00000028621 |
Gene Name |
cytochrome b5 reductase-like |
Synonyms |
2810410C14Rik |
MMRRC Submission |
067861-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R8333 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
106924035-106945204 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106925875 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 19
(V19E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030364]
[ENSMUST00000030365]
[ENSMUST00000106756]
[ENSMUST00000106758]
[ENSMUST00000106760]
[ENSMUST00000137269]
[ENSMUST00000145324]
[ENSMUST00000149453]
[ENSMUST00000154283]
|
AlphaFold |
B1AS42 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030364
AA Change: V19E
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000030364 Gene: ENSMUSG00000028621 AA Change: V19E
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
Pfam:Oxidored-like
|
15 |
56 |
1e-10 |
PFAM |
Pfam:FAD_binding_6
|
80 |
156 |
2.3e-11 |
PFAM |
Pfam:NAD_binding_1
|
152 |
266 |
1.8e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000030365
|
SMART Domains |
Protein: ENSMUSP00000030365 Gene: ENSMUSG00000028622
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
Pfam:PDCD9
|
292 |
420 |
6.4e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106756
|
SMART Domains |
Protein: ENSMUSP00000102367 Gene: ENSMUSG00000028621
Domain | Start | End | E-Value | Type |
Pfam:FAD_binding_6
|
20 |
117 |
4.7e-23 |
PFAM |
Pfam:NAD_binding_1
|
127 |
241 |
3.2e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106758
AA Change: V19E
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000102369 Gene: ENSMUSG00000028621 AA Change: V19E
Domain | Start | End | E-Value | Type |
Pfam:Oxidored-like
|
10 |
55 |
1.7e-15 |
PFAM |
Pfam:FAD_binding_6
|
80 |
177 |
8.2e-25 |
PFAM |
Pfam:NAD_binding_1
|
187 |
301 |
8.8e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106760
AA Change: V19E
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000102371 Gene: ENSMUSG00000028621 AA Change: V19E
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
Pfam:Oxidored-like
|
15 |
56 |
2.5e-14 |
PFAM |
Pfam:FAD_binding_6
|
80 |
156 |
3.1e-14 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000116114 Gene: ENSMUSG00000028621 AA Change: V12E
Domain | Start | End | E-Value | Type |
Pfam:Oxidored-like
|
4 |
49 |
1.3e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137269
|
SMART Domains |
Protein: ENSMUSP00000119249 Gene: ENSMUSG00000028621
Domain | Start | End | E-Value | Type |
Pfam:FAD_binding_6
|
13 |
110 |
7.3e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145324
AA Change: V19E
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000122502 Gene: ENSMUSG00000028621 AA Change: V19E
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
Pfam:Oxidored-like
|
14 |
56 |
3.9e-15 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149453
AA Change: V19E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121581 Gene: ENSMUSG00000028621 AA Change: V19E
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
Pfam:Oxidored-like
|
14 |
56 |
5e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154283
AA Change: V19E
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000119366 Gene: ENSMUSG00000028621 AA Change: V19E
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
Pfam:Oxidored-like
|
14 |
56 |
4.5e-15 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amigo2 |
T |
C |
15: 97,143,166 (GRCm39) |
T419A |
probably damaging |
Het |
Baiap2l1 |
A |
C |
5: 144,217,691 (GRCm39) |
I298M |
possibly damaging |
Het |
BC005624 |
G |
T |
2: 30,863,748 (GRCm39) |
A245D |
probably benign |
Het |
Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,915,615 (GRCm39) |
H786R |
possibly damaging |
Het |
Cerkl |
A |
G |
2: 79,168,922 (GRCm39) |
V427A |
possibly damaging |
Het |
Cfap43 |
G |
T |
19: 47,885,765 (GRCm39) |
C283* |
probably null |
Het |
Chfr |
G |
A |
5: 110,302,803 (GRCm39) |
A455T |
probably benign |
Het |
Cldn13 |
T |
A |
5: 134,943,850 (GRCm39) |
I112F |
possibly damaging |
Het |
Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
Dlgap2 |
T |
A |
8: 14,828,295 (GRCm39) |
C568S |
probably benign |
Het |
Ecm2 |
T |
C |
13: 49,671,859 (GRCm39) |
L120P |
probably damaging |
Het |
Gpr156 |
T |
C |
16: 37,812,416 (GRCm39) |
S251P |
probably damaging |
Het |
Gpr182 |
T |
C |
10: 127,585,790 (GRCm39) |
N387S |
probably benign |
Het |
Grid1 |
T |
C |
14: 35,291,595 (GRCm39) |
V834A |
possibly damaging |
Het |
Igkv8-34 |
T |
C |
6: 70,021,337 (GRCm39) |
S42G |
probably benign |
Het |
Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
Lrrc19 |
T |
A |
4: 94,527,587 (GRCm39) |
D208V |
probably benign |
Het |
Lrrc9 |
C |
T |
12: 72,528,317 (GRCm39) |
T872I |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,279,245 (GRCm39) |
|
probably null |
Het |
Mrpl13 |
A |
G |
15: 55,420,679 (GRCm39) |
M1T |
probably null |
Het |
Ncapg |
C |
T |
5: 45,831,805 (GRCm39) |
T217I |
probably damaging |
Het |
Nim1k |
G |
A |
13: 120,174,022 (GRCm39) |
P291S |
probably damaging |
Het |
Or8c11 |
G |
A |
9: 38,289,912 (GRCm39) |
G239D |
probably damaging |
Het |
Or8k31-ps1 |
A |
T |
2: 86,356,415 (GRCm39) |
Y35* |
probably null |
Het |
Padi6 |
T |
C |
4: 140,464,687 (GRCm39) |
M181V |
probably damaging |
Het |
Pax7 |
T |
A |
4: 139,557,514 (GRCm39) |
I86F |
probably damaging |
Het |
Pbk |
T |
A |
14: 66,054,680 (GRCm39) |
Y271N |
probably benign |
Het |
Rabgap1 |
C |
T |
2: 37,385,710 (GRCm39) |
P492L |
probably benign |
Het |
Rhno1 |
G |
T |
6: 128,334,728 (GRCm39) |
D198E |
probably damaging |
Het |
Scn2a |
A |
C |
2: 65,514,191 (GRCm39) |
I292L |
probably benign |
Het |
Slc40a1 |
T |
C |
1: 45,950,439 (GRCm39) |
S338G |
probably damaging |
Het |
Slc45a3 |
A |
G |
1: 131,905,928 (GRCm39) |
Y317C |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,532,270 (GRCm39) |
S2842R |
probably benign |
Het |
Tle2 |
C |
T |
10: 81,413,518 (GRCm39) |
T119I |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,553,938 (GRCm39) |
V30922I |
possibly damaging |
Het |
Usp33 |
C |
T |
3: 152,080,297 (GRCm39) |
P476L |
probably damaging |
Het |
Wdr38 |
T |
C |
2: 38,889,361 (GRCm39) |
Y51H |
probably damaging |
Het |
|
Other mutations in Cyb5rl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00773:Cyb5rl
|
APN |
4 |
106,941,493 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01350:Cyb5rl
|
APN |
4 |
106,941,409 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02418:Cyb5rl
|
APN |
4 |
106,928,182 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02746:Cyb5rl
|
APN |
4 |
106,925,836 (GRCm39) |
missense |
probably benign |
0.12 |
IGL03088:Cyb5rl
|
APN |
4 |
106,938,225 (GRCm39) |
nonsense |
probably null |
|
IGL03279:Cyb5rl
|
APN |
4 |
106,941,325 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1301:Cyb5rl
|
UTSW |
4 |
106,938,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R1731:Cyb5rl
|
UTSW |
4 |
106,938,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R2091:Cyb5rl
|
UTSW |
4 |
106,928,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R2165:Cyb5rl
|
UTSW |
4 |
106,925,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R2504:Cyb5rl
|
UTSW |
4 |
106,938,142 (GRCm39) |
missense |
probably benign |
0.01 |
R4223:Cyb5rl
|
UTSW |
4 |
106,938,185 (GRCm39) |
missense |
probably damaging |
0.97 |
R4851:Cyb5rl
|
UTSW |
4 |
106,941,510 (GRCm39) |
missense |
probably benign |
0.39 |
R4964:Cyb5rl
|
UTSW |
4 |
106,926,329 (GRCm39) |
intron |
probably benign |
|
R5797:Cyb5rl
|
UTSW |
4 |
106,941,404 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6575:Cyb5rl
|
UTSW |
4 |
106,942,550 (GRCm39) |
missense |
probably benign |
0.20 |
R6688:Cyb5rl
|
UTSW |
4 |
106,931,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R6986:Cyb5rl
|
UTSW |
4 |
106,928,073 (GRCm39) |
missense |
probably benign |
0.18 |
R7097:Cyb5rl
|
UTSW |
4 |
106,944,513 (GRCm39) |
missense |
unknown |
|
R7139:Cyb5rl
|
UTSW |
4 |
106,928,208 (GRCm39) |
missense |
probably benign |
0.35 |
R7293:Cyb5rl
|
UTSW |
4 |
106,938,143 (GRCm39) |
missense |
probably damaging |
0.98 |
R7920:Cyb5rl
|
UTSW |
4 |
106,928,205 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8234:Cyb5rl
|
UTSW |
4 |
106,925,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R8367:Cyb5rl
|
UTSW |
4 |
106,928,146 (GRCm39) |
missense |
probably benign |
0.00 |
R8546:Cyb5rl
|
UTSW |
4 |
106,925,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R8998:Cyb5rl
|
UTSW |
4 |
106,938,157 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCATCCCTGTCCCTATAG -3'
(R):5'- CCAGATAGATATGGCCACTCTGG -3'
Sequencing Primer
(F):5'- CTGTCCCTATAGCCTGGTGG -3'
(R):5'- TGGACTCCTCACCTGGC -3'
|
Posted On |
2020-09-02 |