Incidental Mutation 'R1195:Cyb5d1'
| ID |
164516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyb5d1
|
| Ensembl Gene |
ENSMUSG00000044795 |
| Gene Name |
cytochrome b5 domain containing 1 |
| Synonyms |
LOC327951 |
| MMRRC Submission |
039267-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1195 (G1)
|
| Quality Score |
211 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69282751-69286457 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 69285797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050140]
[ENSMUST00000051620]
[ENSMUST00000051620]
[ENSMUST00000094077]
[ENSMUST00000108660]
[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 null
Transcript: ENSMUST00000051620
|
| SMART Domains |
Protein: ENSMUSP00000059709
Gene: ENSMUSG00000044795
| Domain | Start | End | E-Value | Type |
|---|
|
Cyt-b5
|
20 |
92 |
1.89e-6 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000051620
|
| SMART Domains |
Protein: ENSMUSP00000059709
Gene: ENSMUSG00000044795
| 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 null
Transcript: ENSMUST00000108660
|
| SMART Domains |
Protein: ENSMUSP00000104300
Gene: ENSMUSG00000044795
| Domain | Start | End | E-Value | Type |
|---|
|
Cyt-b5
|
20 |
92 |
1.89e-6 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108660
|
| SMART Domains |
Protein: ENSMUSP00000104300
Gene: ENSMUSG00000044795
| 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: ENSMUST00000134903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142126
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.6%
- 10x: 92.8%
- 20x: 76.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
C |
A |
13: 30,565,901 (GRCm39) |
P322Q |
probably damaging |
Het |
| Brd1 |
T |
C |
15: 88,585,014 (GRCm39) |
E940G |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,302,209 (GRCm39) |
|
probably benign |
Het |
| Cd28 |
C |
T |
1: 60,802,303 (GRCm39) |
T74I |
possibly damaging |
Het |
| Cntnap2 |
T |
A |
6: 46,460,902 (GRCm39) |
M646K |
probably benign |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dab2ip |
T |
C |
2: 35,608,757 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,250,235 (GRCm39) |
D4063G |
probably damaging |
Het |
| Elmod1 |
T |
C |
9: 53,843,052 (GRCm39) |
Y42C |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,096,332 (GRCm39) |
I310V |
probably damaging |
Het |
| Hpx |
A |
G |
7: 105,248,856 (GRCm39) |
|
probably benign |
Het |
| Ighv10-1 |
A |
T |
12: 114,443,015 (GRCm39) |
|
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,365,419 (GRCm39) |
D1130G |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,465,654 (GRCm39) |
R1343G |
probably damaging |
Het |
| Kdm4d |
A |
G |
9: 14,374,395 (GRCm39) |
S488P |
probably benign |
Het |
| Lingo2 |
A |
G |
4: 35,708,538 (GRCm39) |
Y481H |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,268,562 (GRCm39) |
P523L |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,802,483 (GRCm39) |
D1990G |
probably damaging |
Het |
| Niban2 |
T |
C |
2: 32,809,815 (GRCm39) |
V304A |
probably benign |
Het |
| Perp |
C |
A |
10: 18,731,483 (GRCm39) |
Y147* |
probably null |
Het |
| Prr16 |
A |
T |
18: 51,435,755 (GRCm39) |
D78V |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,525,228 (GRCm39) |
T806M |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,713,016 (GRCm39) |
|
probably null |
Het |
| Spdl1 |
T |
C |
11: 34,710,644 (GRCm39) |
Y368C |
probably damaging |
Het |
| Sptbn2 |
G |
C |
19: 4,795,921 (GRCm39) |
R1700P |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tln2 |
T |
G |
9: 67,165,848 (GRCm39) |
K1000Q |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,711,943 (GRCm39) |
T63A |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,926,885 (GRCm39) |
D129G |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Ttll6 |
T |
C |
11: 96,026,555 (GRCm39) |
I113T |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,318,606 (GRCm39) |
F210L |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,131,131 (GRCm39) |
V224E |
probably benign |
Het |
| Zfp639 |
G |
A |
3: 32,573,345 (GRCm39) |
V86I |
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 |
|
|
R0760:Cyb5d1
|
UTSW |
11 |
69,285,999 (GRCm39) |
missense |
probably benign |
|
|
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'- GGGTACGGTATCTCATGCAACCAG -3'
(R):5'- CGGTATTTCACGCCGTCAGAAGTAG -3'
Sequencing Primer
(F):5'- TCTCATGCAACCAGTGAGTG -3'
(R):5'- ATCTAACACCGCTTGTCGAGG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation