Incidental Mutation 'R6461:Mon1b'
| ID |
517604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mon1b
|
| Ensembl Gene |
ENSMUSG00000078908 |
| Gene Name |
MON1 homolog B, secretory traffciking associated |
| Synonyms |
5033413H12Rik |
| MMRRC Submission |
044390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R6461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
114362219-114371811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114365170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 166
(D166G)
|
| 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 |
probably damaging
Transcript: ENSMUST00000035777
AA Change: D166G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045089
Gene: ENSMUSG00000078908
AA Change: D166G
| 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 |
probably damaging
Transcript: ENSMUST00000179926
AA Change: D166G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137605
Gene: ENSMUSG00000078908
AA Change: D166G
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
A |
10: 85,476,428 (GRCm39) |
I903N |
probably damaging |
Het |
| Atp12a |
C |
T |
14: 56,610,695 (GRCm39) |
R280C |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,855,964 (GRCm39) |
|
probably null |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,390 (GRCm39) |
E240G |
probably benign |
Het |
| Gne |
T |
C |
4: 44,060,078 (GRCm39) |
D105G |
probably damaging |
Het |
| Grin2c |
A |
T |
11: 115,146,522 (GRCm39) |
M494K |
possibly damaging |
Het |
| Hnrnpk |
A |
G |
13: 58,541,008 (GRCm39) |
|
probably null |
Het |
| Irf6 |
G |
C |
1: 192,849,779 (GRCm39) |
G234R |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,494,728 (GRCm39) |
F347L |
probably damaging |
Het |
| Mcfd2 |
G |
A |
17: 87,565,494 (GRCm39) |
T3I |
probably benign |
Het |
| Mup10 |
T |
A |
4: 60,538,078 (GRCm39) |
M4L |
unknown |
Het |
| Or13c7b |
T |
C |
4: 43,821,355 (GRCm39) |
E2G |
probably benign |
Het |
| Or2h1b |
C |
T |
17: 37,462,362 (GRCm39) |
C167Y |
probably damaging |
Het |
| Or51s1 |
T |
A |
7: 102,558,235 (GRCm39) |
R270S |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,828,587 (GRCm39) |
|
probably null |
Het |
| Pelp1 |
A |
T |
11: 70,287,132 (GRCm39) |
V522E |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,156,466 (GRCm39) |
D481G |
probably null |
Het |
| Scube1 |
G |
A |
15: 83,496,628 (GRCm39) |
T791I |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,604,373 (GRCm39) |
I748V |
possibly damaging |
Het |
| Slc29a2 |
A |
G |
19: 5,077,768 (GRCm39) |
T236A |
probably benign |
Het |
| Smarca4 |
T |
A |
9: 21,590,316 (GRCm39) |
I1152N |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,183,822 (GRCm39) |
I1026V |
probably damaging |
Het |
| Tnxb |
G |
T |
17: 34,890,872 (GRCm39) |
R405L |
probably damaging |
Het |
| Zbtb11 |
G |
A |
16: 55,827,234 (GRCm39) |
R900H |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,606,344 (GRCm39) |
K1639R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAACCCCAGCTTGTCCTCG -3'
(R):5'- CTTGCTCCACACTGTCCAAGAG -3'
Sequencing Primer
(F):5'- CGCCCTAATTTAGGTGCTGGC -3'
(R):5'- GCGACGGAGGTCATAGTTC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation