Incidental Mutation 'IGL02579:Mon1b'
| ID |
299296 |
| 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: 0.135)
|
| Stock # |
IGL02579
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,005,537 (GRCm39) |
E1140G |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,091,135 (GRCm39) |
E461G |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,176,175 (GRCm39) |
|
probably benign |
Het |
| Calhm6 |
C |
A |
10: 34,003,423 (GRCm39) |
M161I |
probably benign |
Het |
| Dnmt1 |
A |
G |
9: 20,829,416 (GRCm39) |
M729T |
possibly damaging |
Het |
| Enpep |
G |
A |
3: 129,077,739 (GRCm39) |
T626M |
probably benign |
Het |
| Gje1 |
A |
T |
10: 14,592,492 (GRCm39) |
C97S |
probably benign |
Het |
| Igkv4-58 |
T |
A |
6: 69,477,385 (GRCm39) |
I71F |
probably damaging |
Het |
| Itfg1 |
G |
A |
8: 86,507,194 (GRCm39) |
T222M |
possibly damaging |
Het |
| Mtmr6 |
T |
A |
14: 60,519,378 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,434,155 (GRCm39) |
I1251F |
probably damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,892 (GRCm39) |
D267G |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pold1 |
T |
C |
7: 44,192,703 (GRCm39) |
E53G |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,488,465 (GRCm39) |
D529V |
possibly damaging |
Het |
| Rgl2 |
A |
G |
17: 34,156,134 (GRCm39) |
T741A |
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,354,169 (GRCm39) |
N26S |
probably benign |
Het |
| Traf5 |
G |
T |
1: 191,731,848 (GRCm39) |
P28Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,589,433 (GRCm39) |
Y21274H |
probably damaging |
Het |
| Vmn2r76 |
T |
A |
7: 85,877,961 (GRCm39) |
K479* |
probably null |
Het |
| Zfp322a |
A |
T |
13: 23,541,613 (GRCm39) |
V43E |
probably damaging |
Het |
| Zfp385c |
C |
A |
11: 100,521,605 (GRCm39) |
G152C |
probably damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,962,868 (GRCm39) |
N177Y |
possibly 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 |
|
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