Incidental Mutation 'IGL02577:Mon1b'
| ID |
299234 |
| 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 # |
IGL02577
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
C |
1: 127,667,696 (GRCm39) |
I40T |
probably benign |
Het |
| Adgrg3 |
C |
T |
8: 95,766,555 (GRCm39) |
R409C |
probably damaging |
Het |
| Cpa5 |
G |
T |
6: 30,626,807 (GRCm39) |
|
probably benign |
Het |
| Idi2l |
C |
A |
13: 8,993,288 (GRCm39) |
Q68H |
probably damaging |
Het |
| Ippk |
G |
A |
13: 49,615,134 (GRCm39) |
V506I |
possibly damaging |
Het |
| Lcn2 |
A |
G |
2: 32,277,101 (GRCm39) |
Y158H |
probably damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,630,981 (GRCm39) |
T207S |
probably benign |
Het |
| Or1e30 |
T |
C |
11: 73,677,872 (GRCm39) |
L36P |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Poln |
T |
A |
5: 34,270,679 (GRCm39) |
M451L |
probably benign |
Het |
| Rrh |
A |
C |
3: 129,609,372 (GRCm39) |
V45G |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,802,345 (GRCm39) |
M251K |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,937,728 (GRCm39) |
I1107F |
probably damaging |
Het |
| Tgm5 |
T |
C |
2: 120,908,084 (GRCm39) |
I31V |
probably benign |
Het |
| Vps36 |
C |
T |
8: 22,701,632 (GRCm39) |
Q240* |
probably null |
Het |
| Wdr6 |
C |
T |
9: 108,453,140 (GRCm39) |
V248I |
possibly damaging |
Het |
| Zfp143 |
A |
G |
7: 109,691,114 (GRCm39) |
E555G |
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 |
|
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 |
|
IGL02703: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 |
Incidental Mutation