Incidental Mutation 'IGL02703:Mon1b'
ID |
304200 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mon1b
|
Ensembl Gene |
ENSMUSG00000078908 |
Gene Name |
MON1 homolog B, secretory traffciking associated |
Synonyms |
5033413H12Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
IGL02703
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
114362219-114371811 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 114365455 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 261
(R261L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137605
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034219]
[ENSMUST00000035777]
[ENSMUST00000095173]
[ENSMUST00000179926]
[ENSMUST00000212269]
|
AlphaFold |
Q8BMQ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034219
|
SMART Domains |
Protein: ENSMUSP00000034219 Gene: ENSMUSG00000033409
Domain | Start | End | E-Value | Type |
Pfam:SYCE1
|
45 |
135 |
4.4e-39 |
PFAM |
low complexity region
|
139 |
154 |
N/A |
INTRINSIC |
low complexity region
|
196 |
212 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035777
AA Change: R261L
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000045089 Gene: ENSMUSG00000078908 AA Change: R261L
Domain | Start | End | E-Value | Type |
Pfam:Mon1
|
105 |
533 |
5.5e-172 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095173
|
SMART Domains |
Protein: ENSMUSP00000092796 Gene: ENSMUSG00000033409
Domain | Start | End | E-Value | Type |
Pfam:SYCE1
|
45 |
172 |
8.3e-47 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179926
AA Change: R261L
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000137605 Gene: ENSMUSG00000078908 AA Change: R261L
Domain | Start | End | E-Value | Type |
Pfam:Mon1
|
110 |
532 |
3.3e-126 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212017
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212269
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad1 |
A |
T |
3: 37,118,390 (GRCm39) |
Q60L |
probably damaging |
Het |
AI593442 |
A |
C |
9: 52,589,418 (GRCm39) |
L53R |
probably damaging |
Het |
Bmp2 |
T |
G |
2: 133,403,324 (GRCm39) |
S292A |
probably benign |
Het |
Cd37 |
T |
C |
7: 44,884,949 (GRCm39) |
D186G |
probably benign |
Het |
Cenpf |
T |
C |
1: 189,391,955 (GRCm39) |
I626V |
probably benign |
Het |
Faim |
T |
A |
9: 98,874,254 (GRCm39) |
S49T |
probably benign |
Het |
Glrb |
T |
G |
3: 80,758,300 (GRCm39) |
E371A |
probably benign |
Het |
Kcne2 |
T |
C |
16: 92,093,838 (GRCm39) |
S122P |
possibly damaging |
Het |
Or10v1 |
A |
G |
19: 11,873,606 (GRCm39) |
T74A |
possibly damaging |
Het |
Or2f1 |
T |
G |
6: 42,721,010 (GRCm39) |
I13S |
possibly damaging |
Het |
Or8k3 |
T |
A |
2: 86,059,323 (GRCm39) |
|
probably benign |
Het |
Pex1 |
C |
A |
5: 3,665,120 (GRCm39) |
H573Q |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,333,925 (GRCm39) |
S235P |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Slc41a2 |
T |
C |
10: 83,090,711 (GRCm39) |
K491R |
probably damaging |
Het |
Sugct |
T |
G |
13: 17,627,125 (GRCm39) |
T243P |
possibly damaging |
Het |
Tnfaip3 |
G |
T |
10: 18,882,780 (GRCm39) |
D212E |
probably damaging |
Het |
Trim68 |
A |
G |
7: 102,333,286 (GRCm39) |
V132A |
probably damaging |
Het |
|
Other mutations in Mon1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02487:Mon1b
|
APN |
8 |
114,365,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02525:Mon1b
|
APN |
8 |
114,365,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02526:Mon1b
|
APN |
8 |
114,365,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02565:Mon1b
|
APN |
8 |
114,365,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02577:Mon1b
|
APN |
8 |
114,365,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02578:Mon1b
|
APN |
8 |
114,365,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02579:Mon1b
|
APN |
8 |
114,365,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02580:Mon1b
|
APN |
8 |
114,365,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02667:Mon1b
|
APN |
8 |
114,365,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
PIT4651001:Mon1b
|
UTSW |
8 |
114,365,254 (GRCm39) |
missense |
probably benign |
0.33 |
R0326:Mon1b
|
UTSW |
8 |
114,364,375 (GRCm39) |
missense |
probably benign |
0.24 |
R0388:Mon1b
|
UTSW |
8 |
114,365,710 (GRCm39) |
missense |
probably damaging |
0.98 |
R1667:Mon1b
|
UTSW |
8 |
114,368,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R2426:Mon1b
|
UTSW |
8 |
114,365,752 (GRCm39) |
missense |
probably damaging |
0.99 |
R3711:Mon1b
|
UTSW |
8 |
114,365,779 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4896:Mon1b
|
UTSW |
8 |
114,365,859 (GRCm39) |
missense |
probably damaging |
0.97 |
R4912:Mon1b
|
UTSW |
8 |
114,368,585 (GRCm39) |
nonsense |
probably null |
|
R5004:Mon1b
|
UTSW |
8 |
114,365,859 (GRCm39) |
missense |
probably damaging |
0.97 |
R5243:Mon1b
|
UTSW |
8 |
114,364,553 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5331:Mon1b
|
UTSW |
8 |
114,362,899 (GRCm39) |
missense |
probably null |
0.25 |
R6375:Mon1b
|
UTSW |
8 |
114,364,709 (GRCm39) |
missense |
probably damaging |
0.97 |
R6461:Mon1b
|
UTSW |
8 |
114,365,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R6873:Mon1b
|
UTSW |
8 |
114,368,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R8250:Mon1b
|
UTSW |
8 |
114,366,351 (GRCm39) |
missense |
probably damaging |
0.98 |
R8765:Mon1b
|
UTSW |
8 |
114,362,881 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9174:Mon1b
|
UTSW |
8 |
114,365,689 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Mon1b
|
UTSW |
8 |
114,364,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |