Incidental Mutation 'IGL02487:Mon1b'
| ID |
295472 |
| 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 # |
IGL02487
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
T |
A |
11: 54,227,769 (GRCm39) |
I308N |
possibly damaging |
Het |
| Adal |
C |
T |
2: 120,985,877 (GRCm39) |
T204I |
probably benign |
Het |
| Akirin1 |
A |
G |
4: 123,637,357 (GRCm39) |
F76S |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,260,916 (GRCm39) |
N1447I |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| B230217C12Rik |
A |
G |
11: 97,733,054 (GRCm39) |
N125S |
probably benign |
Het |
| Dcaf11 |
G |
T |
14: 55,806,571 (GRCm39) |
K457N |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,870,916 (GRCm39) |
V2348M |
possibly damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,930,689 (GRCm39) |
V1665A |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,394 (GRCm39) |
I96F |
probably damaging |
Het |
| Gm29253 |
T |
C |
1: 75,149,321 (GRCm39) |
|
probably null |
Het |
| Gvin-ps6 |
A |
G |
7: 106,022,471 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnpm |
C |
A |
17: 33,867,787 (GRCm39) |
G676C |
probably damaging |
Het |
| Iah1 |
T |
C |
12: 21,371,440 (GRCm39) |
M185T |
probably damaging |
Het |
| Klc1 |
A |
T |
12: 111,738,886 (GRCm39) |
I45F |
probably damaging |
Het |
| Lce1h |
G |
A |
3: 92,671,048 (GRCm39) |
P35S |
unknown |
Het |
| Lrrc37a |
T |
C |
11: 103,386,863 (GRCm39) |
E2419G |
unknown |
Het |
| Lrrc8c |
T |
A |
5: 105,754,457 (GRCm39) |
S77R |
probably benign |
Het |
| Mcm3ap |
T |
A |
10: 76,343,389 (GRCm39) |
|
probably benign |
Het |
| Ntng1 |
A |
T |
3: 109,842,363 (GRCm39) |
S137T |
probably damaging |
Het |
| Odf2 |
C |
A |
2: 29,810,851 (GRCm39) |
A578E |
possibly damaging |
Het |
| Pecam1 |
G |
A |
11: 106,562,606 (GRCm39) |
T698I |
probably damaging |
Het |
| Pex10 |
A |
T |
4: 155,155,190 (GRCm39) |
H288L |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,322,822 (GRCm39) |
V36A |
possibly damaging |
Het |
| Podxl |
T |
C |
6: 31,499,957 (GRCm39) |
*504W |
probably null |
Het |
| Rab42 |
A |
G |
4: 132,029,614 (GRCm39) |
S203P |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,288,698 (GRCm39) |
S192P |
probably damaging |
Het |
| Scap |
C |
T |
9: 110,207,758 (GRCm39) |
T489I |
probably benign |
Het |
| Sost |
C |
A |
11: 101,857,633 (GRCm39) |
R56L |
possibly damaging |
Het |
| Speer4a3 |
T |
A |
5: 26,156,605 (GRCm39) |
I125F |
probably benign |
Het |
| Spmip10 |
T |
A |
18: 56,727,571 (GRCm39) |
W90R |
possibly damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,118,522 (GRCm39) |
V264A |
probably damaging |
Het |
| Stx3 |
A |
G |
19: 11,760,469 (GRCm39) |
V236A |
probably damaging |
Het |
| Syt2 |
T |
C |
1: 134,668,603 (GRCm39) |
F5S |
probably damaging |
Het |
| Thrap3 |
T |
C |
4: 126,060,794 (GRCm39) |
D855G |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,332,769 (GRCm39) |
V874A |
possibly damaging |
Het |
| Tmem26 |
A |
G |
10: 68,614,563 (GRCm39) |
E326G |
probably benign |
Het |
| Tsga13 |
A |
T |
6: 30,884,362 (GRCm39) |
Y119N |
probably damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,653,342 (GRCm39) |
T136I |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,065,500 (GRCm39) |
T425A |
probably benign |
Het |
| Ttc27 |
A |
G |
17: 75,163,549 (GRCm39) |
Y719C |
probably damaging |
Het |
| Usp10 |
C |
A |
8: 120,675,514 (GRCm39) |
S511Y |
probably damaging |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,792 (GRCm39) |
M238V |
probably damaging |
Het |
|
| Other mutations in Mon1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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