Incidental Mutation 'IGL02470:Mobp'
| ID |
294697 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mobp
|
| Ensembl Gene |
ENSMUSG00000032517 |
| Gene Name |
myelin-associated oligodendrocytic basic protein |
| Synonyms |
MOBP155 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
IGL02470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
119978773-120010550 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119997072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 68
(T68A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068698]
[ENSMUST00000093773]
[ENSMUST00000111627]
[ENSMUST00000174193]
[ENSMUST00000214943]
[ENSMUST00000215512]
|
| AlphaFold |
Q9D2P8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068698
AA Change: T68A
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000071084
Gene: ENSMUSG00000032517
AA Change: T68A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
1 |
75 |
6.4e-13 |
PFAM |
|
low complexity region
|
82 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
151 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093773
AA Change: T68A
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000091287
Gene: ENSMUSG00000032517
AA Change: T68A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
1 |
77 |
3.8e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111627
AA Change: T68A
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107254
Gene: ENSMUSG00000032517
AA Change: T68A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
1 |
77 |
3.8e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174193
AA Change: T68A
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000134410
Gene: ENSMUSG00000032517
AA Change: T68A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
1 |
77 |
3.8e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214943
AA Change: T68A
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215512
AA Change: T68A
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for one null allele show abnormal myelin arrangements but do not exhibit an overt behavorial phenotype. Mice homozygous for another allele have normal myelin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
A |
G |
1: 165,395,295 (GRCm39) |
Y1422C |
probably damaging |
Het |
| Adnp |
T |
A |
2: 168,025,114 (GRCm39) |
K727I |
probably damaging |
Het |
| Akr1c21 |
A |
T |
13: 4,627,406 (GRCm39) |
N167Y |
probably damaging |
Het |
| Arl4a |
T |
C |
12: 40,086,747 (GRCm39) |
|
probably benign |
Het |
| BB014433 |
A |
T |
8: 15,092,803 (GRCm39) |
F17I |
unknown |
Het |
| Best1 |
T |
C |
19: 9,970,340 (GRCm39) |
S91G |
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dcc |
A |
T |
18: 72,088,153 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
G |
A |
9: 104,052,946 (GRCm39) |
T1672I |
probably benign |
Het |
| Elf3 |
A |
T |
1: 135,182,750 (GRCm39) |
F325Y |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,702,856 (GRCm39) |
L880P |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,515,869 (GRCm39) |
Y646H |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 38,899,952 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
T |
A |
4: 155,611,970 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
C |
A |
8: 85,647,841 (GRCm39) |
G511V |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,306,345 (GRCm39) |
I424M |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,035,910 (GRCm39) |
E1006G |
probably damaging |
Het |
| Ncstn |
A |
G |
1: 171,910,166 (GRCm39) |
|
probably null |
Het |
| Or1j12 |
A |
G |
2: 36,342,609 (GRCm39) |
D4G |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,929 (GRCm39) |
V9E |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,772,507 (GRCm39) |
V1075D |
possibly damaging |
Het |
| Sanbr |
A |
T |
11: 23,565,222 (GRCm39) |
M255K |
probably damaging |
Het |
| Serpinb1a |
C |
T |
13: 33,034,376 (GRCm39) |
S5N |
probably damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,830,534 (GRCm39) |
N295S |
probably benign |
Het |
| Trmt13 |
A |
C |
3: 116,383,877 (GRCm39) |
|
probably null |
Het |
| Trp63 |
A |
C |
16: 25,639,134 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
| Other mutations in Mobp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01155:Mobp
|
APN |
9 |
119,997,300 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01730:Mobp
|
APN |
9 |
119,996,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02078:Mobp
|
APN |
9 |
119,996,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0041:Mobp
|
UTSW |
9 |
119,997,083 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3794:Mobp
|
UTSW |
9 |
119,997,033 (GRCm39) |
nonsense |
probably null |
|
|
R3890:Mobp
|
UTSW |
9 |
119,997,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5173:Mobp
|
UTSW |
9 |
119,997,311 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5255:Mobp
|
UTSW |
9 |
119,997,419 (GRCm39) |
unclassified |
probably benign |
|
|
R5549:Mobp
|
UTSW |
9 |
119,996,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5870:Mobp
|
UTSW |
9 |
119,996,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6128:Mobp
|
UTSW |
9 |
119,997,392 (GRCm39) |
unclassified |
probably benign |
|
|
R7267:Mobp
|
UTSW |
9 |
119,996,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Mobp
|
UTSW |
9 |
119,997,572 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation