Incidental Mutation 'R3794:Mobp'
| ID |
272691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mobp
|
| Ensembl Gene |
ENSMUSG00000032517 |
| Gene Name |
myelin-associated oligodendrocytic basic protein |
| Synonyms |
MOBP155 |
| MMRRC Submission |
040756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R3794 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119978773-120010550 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 119997033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 55
(K55*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068698]
[ENSMUST00000093773]
[ENSMUST00000111627]
[ENSMUST00000174193]
[ENSMUST00000214943]
[ENSMUST00000215512]
|
| AlphaFold |
Q9D2P8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068698
AA Change: K55*
|
| SMART Domains |
Protein: ENSMUSP00000071084
Gene: ENSMUSG00000032517
AA Change: K55*
| 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 null
Transcript: ENSMUST00000093773
AA Change: K55*
|
| SMART Domains |
Protein: ENSMUSP00000091287
Gene: ENSMUSG00000032517
AA Change: K55*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
1 |
77 |
3.8e-14 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111627
AA Change: K55*
|
| SMART Domains |
Protein: ENSMUSP00000107254
Gene: ENSMUSG00000032517
AA Change: K55*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
1 |
77 |
3.8e-14 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174193
AA Change: K55*
|
| SMART Domains |
Protein: ENSMUSP00000134410
Gene: ENSMUSG00000032517
AA Change: K55*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
1 |
77 |
3.8e-14 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214943
AA Change: K55*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215512
AA Change: K55*
|
| Meta Mutation Damage Score |
0.9710 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (37/38) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
C |
T |
15: 98,496,824 (GRCm39) |
V482I |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,431,486 (GRCm39) |
M1L |
probably damaging |
Het |
| Ceacam13 |
A |
G |
7: 17,747,340 (GRCm39) |
*264W |
probably null |
Het |
| Dennd5b |
A |
T |
6: 149,002,715 (GRCm39) |
D31E |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,654,597 (GRCm39) |
V706A |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,707,630 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
G |
6: 33,452,932 (GRCm39) |
V474G |
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,649,719 (GRCm39) |
Y388H |
unknown |
Het |
| Fasl |
T |
C |
1: 161,609,306 (GRCm39) |
R17G |
probably benign |
Het |
| Htr1a |
G |
A |
13: 105,580,852 (GRCm39) |
V31M |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Itih3 |
T |
C |
14: 30,640,351 (GRCm39) |
Y319C |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,735,240 (GRCm39) |
|
probably benign |
Het |
| Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,765,739 (GRCm39) |
I1057V |
probably benign |
Het |
| Or10al7 |
A |
G |
17: 38,365,786 (GRCm39) |
Y224H |
probably damaging |
Het |
| Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,214,864 (GRCm39) |
R1257Q |
probably damaging |
Het |
| Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
| Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,221,578 (GRCm39) |
Y351H |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,240,524 (GRCm39) |
E632G |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,837,985 (GRCm39) |
|
probably null |
Het |
| Tex16 |
T |
G |
X: 111,150,375 (GRCm39) |
M1R |
probably null |
Het |
| Tln1 |
G |
T |
4: 43,536,295 (GRCm39) |
A1999D |
probably damaging |
Het |
| Trgv5 |
A |
T |
13: 19,376,694 (GRCm39) |
H47L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,781 (GRCm39) |
V2405I |
possibly damaging |
Het |
| Vps13d |
G |
A |
4: 144,812,007 (GRCm39) |
|
probably benign |
Het |
| Xrcc1 |
A |
G |
7: 24,269,985 (GRCm39) |
T469A |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,605,070 (GRCm39) |
H612Q |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACCTTTGTTCTGCAGAGC -3'
(R):5'- CTTAAGGGATGCTGGCAGGAAC -3'
Sequencing Primer
(F):5'- AGAGCAGTGTCACCTGTGGAC -3'
(R):5'- CTGACAGTCATGGATGGA -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation