Incidental Mutation 'IGL02078:Mobp'
| ID |
186028 |
| 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: 0.084)
|
| Stock # |
IGL02078
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
119978773-120010550 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119996980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 37
(R37H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068698]
[ENSMUST00000093773]
[ENSMUST00000111627]
[ENSMUST00000174193]
[ENSMUST00000214943]
[ENSMUST00000215512]
|
| AlphaFold |
Q9D2P8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068698
AA Change: R37H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071084
Gene: ENSMUSG00000032517
AA Change: R37H
| 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 damaging
Transcript: ENSMUST00000093773
AA Change: R37H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091287
Gene: ENSMUSG00000032517
AA Change: R37H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
1 |
77 |
3.8e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111627
AA Change: R37H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107254
Gene: ENSMUSG00000032517
AA Change: R37H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
1 |
77 |
3.8e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174193
AA Change: R37H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134410
Gene: ENSMUSG00000032517
AA Change: R37H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
1 |
77 |
3.8e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214943
AA Change: R37H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215512
AA Change: R37H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
C |
15: 59,888,179 (GRCm39) |
D87G |
probably benign |
Het |
| Acap1 |
C |
T |
11: 69,786,112 (GRCm39) |
R18Q |
probably damaging |
Het |
| Atp1a1 |
A |
C |
3: 101,499,179 (GRCm39) |
V140G |
probably damaging |
Het |
| Bmpr1b |
G |
A |
3: 141,576,498 (GRCm39) |
P112S |
possibly damaging |
Het |
| Chst8 |
T |
A |
7: 34,374,759 (GRCm39) |
N360I |
possibly damaging |
Het |
| Cldn23 |
A |
T |
8: 36,293,359 (GRCm39) |
V43E |
possibly damaging |
Het |
| Clta |
T |
C |
4: 44,030,232 (GRCm39) |
F168S |
probably damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,755,926 (GRCm39) |
I463V |
probably benign |
Het |
| E2f2 |
A |
G |
4: 135,920,323 (GRCm39) |
D436G |
probably damaging |
Het |
| Fbxo24 |
T |
G |
5: 137,622,611 (GRCm39) |
T52P |
probably damaging |
Het |
| Gria4 |
G |
A |
9: 4,793,878 (GRCm39) |
A60V |
probably damaging |
Het |
| Grm1 |
C |
T |
10: 10,565,354 (GRCm39) |
V985M |
probably benign |
Het |
| Hexa |
A |
G |
9: 59,464,586 (GRCm39) |
T159A |
probably benign |
Het |
| Inf2 |
T |
A |
12: 112,568,048 (GRCm39) |
V200E |
probably damaging |
Het |
| Kif20b |
T |
A |
19: 34,913,044 (GRCm39) |
V319E |
probably damaging |
Het |
| Klhl10 |
A |
G |
11: 100,336,577 (GRCm39) |
D188G |
probably benign |
Het |
| Mybpc2 |
T |
A |
7: 44,153,204 (GRCm39) |
D1086V |
probably damaging |
Het |
| Nadk |
A |
C |
4: 155,663,860 (GRCm39) |
|
probably benign |
Het |
| Or7g33 |
T |
A |
9: 19,448,749 (GRCm39) |
H159L |
probably benign |
Het |
| Per1 |
A |
G |
11: 68,995,125 (GRCm39) |
E619G |
probably damaging |
Het |
| Rab3gap1 |
G |
A |
1: 127,796,652 (GRCm39) |
|
probably benign |
Het |
| Rimkla |
A |
G |
4: 119,325,344 (GRCm39) |
L355P |
probably damaging |
Het |
| Rnf139 |
A |
G |
15: 58,771,880 (GRCm39) |
D635G |
possibly damaging |
Het |
| Sall1 |
T |
A |
8: 89,757,003 (GRCm39) |
N1034Y |
probably damaging |
Het |
| Serpinb13 |
A |
T |
1: 106,926,688 (GRCm39) |
Q228L |
probably damaging |
Het |
| Sin3b |
G |
T |
8: 73,480,208 (GRCm39) |
M903I |
possibly damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,200,172 (GRCm39) |
M204K |
probably benign |
Het |
| Smo |
A |
G |
6: 29,754,707 (GRCm39) |
D259G |
possibly damaging |
Het |
| Spata31g1 |
A |
C |
4: 42,972,685 (GRCm39) |
K673Q |
possibly damaging |
Het |
| Sult2a4 |
T |
C |
7: 13,723,469 (GRCm39) |
I15M |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,772,785 (GRCm39) |
|
probably null |
Het |
| Wdtc1 |
C |
A |
4: 133,033,271 (GRCm39) |
D176Y |
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 |
|
IGL02470:Mobp
|
APN |
9 |
119,997,072 (GRCm39) |
missense |
probably benign |
0.18 |
|
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 |
2014-05-07 |
Incidental Mutation