Incidental Mutation 'R0760:Cyb5d1'
ID |
70057 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyb5d1
|
Ensembl Gene |
ENSMUSG00000044795 |
Gene Name |
cytochrome b5 domain containing 1 |
Synonyms |
LOC327951 |
MMRRC Submission |
038940-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0760 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
69282751-69286457 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69285999 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 41
(F41L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104300
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050140]
[ENSMUST00000051620]
[ENSMUST00000094077]
[ENSMUST00000108660]
[ENSMUST00000144531]
|
AlphaFold |
Q5NCY3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050140
|
SMART Domains |
Protein: ENSMUSP00000055528 Gene: ENSMUSG00000045377
Domain | Start | End | E-Value | Type |
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
transmembrane domain
|
86 |
108 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000051620
AA Change: F41L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000059709 Gene: ENSMUSG00000044795 AA Change: F41L
Domain | Start | End | E-Value | Type |
Cyt-b5
|
20 |
92 |
1.89e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082283
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094077
|
SMART Domains |
Protein: ENSMUSP00000091620 Gene: ENSMUSG00000018476
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
43 |
N/A |
INTRINSIC |
low complexity region
|
54 |
71 |
N/A |
INTRINSIC |
SCOP:d1elwa_
|
91 |
152 |
9e-5 |
SMART |
low complexity region
|
214 |
227 |
N/A |
INTRINSIC |
low complexity region
|
239 |
270 |
N/A |
INTRINSIC |
low complexity region
|
312 |
329 |
N/A |
INTRINSIC |
low complexity region
|
333 |
345 |
N/A |
INTRINSIC |
low complexity region
|
389 |
415 |
N/A |
INTRINSIC |
low complexity region
|
461 |
487 |
N/A |
INTRINSIC |
low complexity region
|
515 |
524 |
N/A |
INTRINSIC |
low complexity region
|
544 |
577 |
N/A |
INTRINSIC |
low complexity region
|
585 |
615 |
N/A |
INTRINSIC |
low complexity region
|
643 |
650 |
N/A |
INTRINSIC |
low complexity region
|
711 |
719 |
N/A |
INTRINSIC |
low complexity region
|
743 |
766 |
N/A |
INTRINSIC |
low complexity region
|
771 |
811 |
N/A |
INTRINSIC |
low complexity region
|
840 |
879 |
N/A |
INTRINSIC |
low complexity region
|
890 |
909 |
N/A |
INTRINSIC |
low complexity region
|
950 |
989 |
N/A |
INTRINSIC |
low complexity region
|
993 |
1011 |
N/A |
INTRINSIC |
low complexity region
|
1044 |
1068 |
N/A |
INTRINSIC |
low complexity region
|
1284 |
1317 |
N/A |
INTRINSIC |
JmjC
|
1337 |
1500 |
1.61e-47 |
SMART |
Blast:JmjC
|
1536 |
1600 |
1e-18 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108660
AA Change: F41L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104300 Gene: ENSMUSG00000044795 AA Change: F41L
Domain | Start | End | E-Value | Type |
Cyt-b5
|
20 |
92 |
1.89e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124932
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142126
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134903
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144531
|
SMART Domains |
Protein: ENSMUSP00000123155 Gene: ENSMUSG00000059278
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
Sm
|
43 |
114 |
4.26e-15 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.8%
|
Validation Efficiency |
95% (39/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
A |
G |
6: 124,324,661 (GRCm39) |
V120A |
possibly damaging |
Het |
Adamts2 |
T |
C |
11: 50,666,153 (GRCm39) |
V383A |
probably damaging |
Het |
Alcam |
C |
T |
16: 52,116,035 (GRCm39) |
V180M |
probably benign |
Het |
Catip |
A |
G |
1: 74,402,118 (GRCm39) |
|
probably benign |
Het |
Ccm2l |
A |
C |
2: 152,914,104 (GRCm39) |
N298T |
probably damaging |
Het |
Ccni |
A |
G |
5: 93,331,188 (GRCm39) |
V261A |
possibly damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Fbxw8 |
A |
G |
5: 118,203,966 (GRCm39) |
|
probably null |
Het |
Garin2 |
A |
G |
12: 78,761,927 (GRCm39) |
D197G |
probably damaging |
Het |
Gpaa1 |
T |
C |
15: 76,216,119 (GRCm39) |
I33T |
probably benign |
Het |
Grip1 |
T |
A |
10: 119,853,983 (GRCm39) |
S512T |
probably damaging |
Het |
Gtpbp1 |
G |
A |
15: 79,603,356 (GRCm39) |
G140E |
probably damaging |
Het |
Hspa4l |
T |
A |
3: 40,739,155 (GRCm39) |
L681* |
probably null |
Het |
Hspg2 |
A |
G |
4: 137,239,660 (GRCm39) |
T456A |
probably damaging |
Het |
Igkv3-1 |
A |
T |
6: 70,681,119 (GRCm39) |
D106V |
probably damaging |
Het |
Inhbc |
C |
T |
10: 127,193,237 (GRCm39) |
G260S |
probably damaging |
Het |
Itga2 |
C |
T |
13: 114,996,168 (GRCm39) |
V708I |
possibly damaging |
Het |
Kif5c |
T |
C |
2: 49,578,765 (GRCm39) |
I131T |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,558,315 (GRCm39) |
Y1133H |
possibly damaging |
Het |
Lama2 |
A |
G |
10: 26,920,429 (GRCm39) |
|
probably null |
Het |
N4bp1 |
A |
G |
8: 87,573,540 (GRCm39) |
Y744H |
probably damaging |
Het |
Or14j7 |
C |
T |
17: 38,235,005 (GRCm39) |
Q183* |
probably null |
Het |
Or1n2 |
A |
G |
2: 36,797,233 (GRCm39) |
S92G |
probably benign |
Het |
Ovol2 |
A |
G |
2: 144,173,679 (GRCm39) |
|
probably null |
Het |
Pappa2 |
C |
A |
1: 158,544,531 (GRCm39) |
|
probably null |
Het |
Pcdh10 |
G |
A |
3: 45,335,005 (GRCm39) |
E440K |
probably benign |
Het |
Pcsk4 |
A |
G |
10: 80,161,775 (GRCm39) |
|
probably benign |
Het |
Plcl2 |
A |
G |
17: 50,915,802 (GRCm39) |
N937S |
possibly damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,642,722 (GRCm39) |
F541L |
probably benign |
Het |
Rad54l2 |
A |
G |
9: 106,596,805 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
C |
T |
10: 58,312,613 (GRCm39) |
P1111L |
possibly damaging |
Het |
Rasal3 |
A |
G |
17: 32,611,146 (GRCm39) |
F929S |
probably benign |
Het |
Rnf111 |
A |
G |
9: 70,336,960 (GRCm39) |
V909A |
probably damaging |
Het |
Rnf168 |
A |
G |
16: 32,117,204 (GRCm39) |
|
probably null |
Het |
Slc2a5 |
T |
C |
4: 150,224,124 (GRCm39) |
L244P |
probably benign |
Het |
Snta1 |
T |
A |
2: 154,222,860 (GRCm39) |
I288F |
probably damaging |
Het |
Sv2a |
G |
A |
3: 96,095,498 (GRCm39) |
C297Y |
probably damaging |
Het |
Trim44 |
C |
T |
2: 102,230,905 (GRCm39) |
|
probably benign |
Het |
Uggt1 |
A |
T |
1: 36,200,805 (GRCm39) |
I1164N |
possibly damaging |
Het |
|
Other mutations in Cyb5d1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01109:Cyb5d1
|
APN |
11 |
69,284,610 (GRCm39) |
splice site |
probably null |
|
IGL01897:Cyb5d1
|
APN |
11 |
69,284,587 (GRCm39) |
missense |
probably benign |
|
IGL02566:Cyb5d1
|
APN |
11 |
69,284,594 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02732:Cyb5d1
|
APN |
11 |
69,284,635 (GRCm39) |
splice site |
probably null |
|
R0025:Cyb5d1
|
UTSW |
11 |
69,285,792 (GRCm39) |
splice site |
probably null |
|
R1195:Cyb5d1
|
UTSW |
11 |
69,285,797 (GRCm39) |
critical splice donor site |
probably null |
|
R1195:Cyb5d1
|
UTSW |
11 |
69,285,797 (GRCm39) |
critical splice donor site |
probably null |
|
R1195:Cyb5d1
|
UTSW |
11 |
69,285,797 (GRCm39) |
critical splice donor site |
probably null |
|
R1907:Cyb5d1
|
UTSW |
11 |
69,285,566 (GRCm39) |
missense |
probably benign |
0.32 |
R2220:Cyb5d1
|
UTSW |
11 |
69,285,871 (GRCm39) |
missense |
probably benign |
0.00 |
R3756:Cyb5d1
|
UTSW |
11 |
69,284,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R4757:Cyb5d1
|
UTSW |
11 |
69,285,814 (GRCm39) |
missense |
probably damaging |
0.99 |
R4994:Cyb5d1
|
UTSW |
11 |
69,284,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R5509:Cyb5d1
|
UTSW |
11 |
69,284,561 (GRCm39) |
splice site |
probably null |
|
R7631:Cyb5d1
|
UTSW |
11 |
69,285,865 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9348:Cyb5d1
|
UTSW |
11 |
69,285,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R9395:Cyb5d1
|
UTSW |
11 |
69,284,531 (GRCm39) |
missense |
probably benign |
0.00 |
Z1186:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1186:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
Z1187:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1187:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
Z1188:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1188:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
Z1189:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1189:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
Z1190:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1190:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
Z1191:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1191:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
Z1192:Cyb5d1
|
UTSW |
11 |
69,286,098 (GRCm39) |
missense |
probably benign |
0.35 |
Z1192:Cyb5d1
|
UTSW |
11 |
69,286,028 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACCTCCAGGATGGGTTTCAACAG -3'
(R):5'- GGGACAATGGTTTCCATGTCAGCG -3'
Sequencing Primer
(F):5'- GGTTTCAACAGTAGGTCCCC -3'
(R):5'- GACAAACGCACTTCAGGTAGTTC -3'
|
Posted On |
2013-09-30 |