Incidental Mutation 'R6873:Mon1b'
| ID |
536261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mon1b
|
| Ensembl Gene |
ENSMUSG00000078908 |
| Gene Name |
MON1 homolog B, secretory traffciking associated |
| Synonyms |
5033413H12Rik |
| MMRRC Submission |
044970-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R6873 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
114362219-114371811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114368697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 533
(Y533H)
|
| 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: Y533H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045089
Gene: ENSMUSG00000078908
AA Change: Y533H
| 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: Y533H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137605
Gene: ENSMUSG00000078908
AA Change: Y533H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mon1
|
110 |
532 |
3.3e-126 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212269
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss1 |
A |
G |
12: 112,599,138 (GRCm39) |
D123G |
probably benign |
Het |
| Agbl4 |
A |
G |
4: 111,423,856 (GRCm39) |
D294G |
possibly damaging |
Het |
| Apob |
G |
T |
12: 8,065,995 (GRCm39) |
M4288I |
probably benign |
Het |
| Arnt |
T |
G |
3: 95,381,886 (GRCm39) |
F160V |
probably damaging |
Het |
| Atp5f1a |
C |
T |
18: 77,863,540 (GRCm39) |
R42* |
probably null |
Het |
| Bhlha15 |
A |
G |
5: 144,128,203 (GRCm39) |
D105G |
probably benign |
Het |
| C6 |
A |
G |
15: 4,820,461 (GRCm39) |
T491A |
probably benign |
Het |
| Calhm5 |
G |
C |
10: 33,968,448 (GRCm39) |
R202G |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,723,153 (GRCm39) |
E647G |
probably benign |
Het |
| Col11a2 |
A |
G |
17: 34,283,993 (GRCm39) |
D1579G |
unknown |
Het |
| Dctn2 |
T |
G |
10: 127,112,105 (GRCm39) |
|
probably null |
Het |
| Eqtn |
A |
G |
4: 94,815,258 (GRCm39) |
V80A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,802,803 (GRCm39) |
|
probably null |
Het |
| Fbxo10 |
T |
C |
4: 45,041,787 (GRCm39) |
D814G |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,672,045 (GRCm39) |
D445G |
probably damaging |
Het |
| Gm6309 |
T |
C |
5: 146,104,998 (GRCm39) |
D305G |
probably damaging |
Het |
| Grap2 |
G |
A |
15: 80,527,874 (GRCm39) |
V107I |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,235,865 (GRCm39) |
A1439T |
probably benign |
Het |
| Krt5 |
G |
A |
15: 101,621,312 (GRCm39) |
|
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,699,642 (GRCm39) |
I152M |
possibly damaging |
Het |
| Mast3 |
A |
T |
8: 71,239,236 (GRCm39) |
C447* |
probably null |
Het |
| Mef2b |
A |
G |
8: 70,618,957 (GRCm39) |
I180V |
probably benign |
Het |
| Mst1r |
A |
T |
9: 107,788,843 (GRCm39) |
H454L |
possibly damaging |
Het |
| Nhlrc4 |
G |
A |
17: 26,162,496 (GRCm39) |
Q84* |
probably null |
Het |
| Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,503,433 (GRCm39) |
I513T |
probably benign |
Het |
| Or1j12 |
A |
T |
2: 36,343,508 (GRCm39) |
I304F |
probably benign |
Het |
| Or2n1 |
A |
T |
17: 38,486,259 (GRCm39) |
M95L |
probably benign |
Het |
| Or4c108 |
T |
C |
2: 88,803,768 (GRCm39) |
T156A |
probably benign |
Het |
| Panx1 |
A |
T |
9: 14,921,513 (GRCm39) |
Y121N |
probably damaging |
Het |
| Pfkfb4 |
A |
C |
9: 108,839,403 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
A |
G |
18: 78,902,774 (GRCm39) |
S298P |
probably benign |
Het |
| Sh3bgr |
A |
C |
16: 96,007,691 (GRCm39) |
K19Q |
probably damaging |
Het |
| Slc35c2 |
T |
C |
2: 165,124,729 (GRCm39) |
D82G |
possibly damaging |
Het |
| Spata13 |
T |
A |
14: 60,929,406 (GRCm39) |
D321E |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,697,230 (GRCm39) |
|
probably null |
Het |
| Sulf2 |
T |
A |
2: 165,931,195 (GRCm39) |
I271F |
probably damaging |
Het |
| Sult2a5 |
A |
T |
7: 13,359,311 (GRCm39) |
I96L |
probably benign |
Het |
| Sv2b |
A |
G |
7: 74,855,954 (GRCm39) |
F112S |
probably damaging |
Het |
| Sycp1 |
G |
A |
3: 102,748,296 (GRCm39) |
T832I |
probably benign |
Het |
| Tm9sf2 |
A |
T |
14: 122,382,525 (GRCm39) |
E179V |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,508,455 (GRCm39) |
I66T |
probably damaging |
Het |
| Tspan10 |
T |
C |
11: 120,335,549 (GRCm39) |
W220R |
probably damaging |
Het |
| Ttc39b |
G |
C |
4: 83,164,513 (GRCm39) |
N266K |
probably damaging |
Het |
| Uri1 |
A |
T |
7: 37,664,764 (GRCm39) |
D309E |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,527,273 (GRCm39) |
R1057W |
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 |
|
R6461:Mon1b
|
UTSW |
8 |
114,365,170 (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'- TCAGAAGCACACAGGCTTGG -3'
(R):5'- GCAAACCCTGACATCTTGCC -3'
Sequencing Primer
(F):5'- CTGGGAACACAGAATCATTCATG -3'
(R):5'- GACATCTTGCCCACCTGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation