Incidental Mutation 'IGL02303:Mbnl2'
| ID |
287454 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mbnl2
|
| Ensembl Gene |
ENSMUSG00000022139 |
| Gene Name |
muscleblind like splicing factor 2 |
| Synonyms |
1110002M11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
IGL02303
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
120513081-120669109 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120642059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 341
(M341T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088419]
[ENSMUST00000167459]
[ENSMUST00000226800]
[ENSMUST00000227012]
[ENSMUST00000227594]
|
| AlphaFold |
Q8C181 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088419
AA Change: M341T
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000085763
Gene: ENSMUSG00000022139
AA Change: M341T
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
14 |
40 |
4.01e-5 |
SMART |
|
ZnF_C3H1
|
47 |
72 |
1.43e-1 |
SMART |
|
low complexity region
|
89 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
168 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
176 |
203 |
3.09e-6 |
SMART |
|
ZnF_C3H1
|
213 |
237 |
7.15e-2 |
SMART |
|
low complexity region
|
238 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
367 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167459
AA Change: M353T
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000126186
Gene: ENSMUSG00000022139
AA Change: M353T
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
14 |
40 |
4.01e-5 |
SMART |
|
ZnF_C3H1
|
47 |
72 |
1.43e-1 |
SMART |
|
low complexity region
|
89 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
168 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
176 |
203 |
3.09e-6 |
SMART |
|
ZnF_C3H1
|
213 |
237 |
7.15e-2 |
SMART |
|
low complexity region
|
238 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
349 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226800
AA Change: M323T
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227012
AA Change: M323T
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227594
AA Change: M341T
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228115
AA Change: M246T
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for one gene trap exhibit myotonia, lordosis and altered skeletal muscle fiber morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,045,376 (GRCm39) |
F319S |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,664,827 (GRCm39) |
D922G |
unknown |
Het |
| Bhlhe41 |
A |
T |
6: 145,809,882 (GRCm39) |
H107Q |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,262,801 (GRCm39) |
H662Q |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,932,021 (GRCm39) |
V1463A |
probably benign |
Het |
| Ebf3 |
A |
T |
7: 136,911,094 (GRCm39) |
V140E |
probably benign |
Het |
| Havcr2 |
T |
A |
11: 46,370,108 (GRCm39) |
|
probably benign |
Het |
| Hexb |
G |
A |
13: 97,313,401 (GRCm39) |
A485V |
probably damaging |
Het |
| Igkv5-37 |
T |
A |
6: 69,940,473 (GRCm39) |
Q57L |
probably damaging |
Het |
| Ipo5 |
T |
A |
14: 121,154,795 (GRCm39) |
S40T |
probably benign |
Het |
| Kcnj8 |
A |
G |
6: 142,515,837 (GRCm39) |
M90T |
probably benign |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,515,155 (GRCm39) |
L2896R |
probably damaging |
Het |
| Ldlrap1 |
A |
T |
4: 134,484,706 (GRCm39) |
I96N |
probably damaging |
Het |
| Leo1 |
A |
G |
9: 75,353,281 (GRCm39) |
|
probably benign |
Het |
| Nfatc2 |
G |
A |
2: 168,348,821 (GRCm39) |
R669* |
probably null |
Het |
| Nhlrc2 |
T |
A |
19: 56,563,280 (GRCm39) |
V293E |
probably damaging |
Het |
| Or1e17 |
T |
C |
11: 73,831,276 (GRCm39) |
F68S |
possibly damaging |
Het |
| Or2at1 |
A |
G |
7: 99,417,179 (GRCm39) |
D270G |
possibly damaging |
Het |
| Or51ag1 |
A |
T |
7: 103,155,295 (GRCm39) |
M286K |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,586,770 (GRCm39) |
Q61R |
possibly damaging |
Het |
| Otoa |
T |
A |
7: 120,732,147 (GRCm39) |
|
probably null |
Het |
| Pcnt |
T |
C |
10: 76,278,393 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
G |
T |
15: 76,592,771 (GRCm39) |
Q307K |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,570,730 (GRCm39) |
Y453* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,461,639 (GRCm39) |
V3600I |
possibly damaging |
Het |
| Sybu |
T |
C |
15: 44,536,619 (GRCm39) |
E441G |
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,929,553 (GRCm39) |
H222Q |
probably damaging |
Het |
| Tef |
T |
C |
15: 81,705,496 (GRCm39) |
V173A |
probably benign |
Het |
| Tlcd1 |
A |
G |
11: 78,071,160 (GRCm39) |
|
probably null |
Het |
| Tmod4 |
C |
A |
3: 95,032,953 (GRCm39) |
Q30K |
probably benign |
Het |
| Tpgs1 |
T |
C |
10: 79,511,322 (GRCm39) |
Y155H |
probably damaging |
Het |
| Trib3 |
G |
A |
2: 152,185,070 (GRCm39) |
P60S |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,560,550 (GRCm39) |
T20957S |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,234,460 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,852,763 (GRCm39) |
|
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,168,002 (GRCm39) |
S704P |
unknown |
Het |
| Zfp644 |
G |
A |
5: 106,785,180 (GRCm39) |
R456W |
probably damaging |
Het |
|
| Other mutations in Mbnl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01720:Mbnl2
|
APN |
14 |
120,562,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03225:Mbnl2
|
APN |
14 |
120,622,875 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03268:Mbnl2
|
APN |
14 |
120,616,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Mbnl2
|
UTSW |
14 |
120,616,649 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0423:Mbnl2
|
UTSW |
14 |
120,562,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0470:Mbnl2
|
UTSW |
14 |
120,642,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1749:Mbnl2
|
UTSW |
14 |
120,626,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4041:Mbnl2
|
UTSW |
14 |
120,626,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Mbnl2
|
UTSW |
14 |
120,622,833 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7346:Mbnl2
|
UTSW |
14 |
120,616,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8928:Mbnl2
|
UTSW |
14 |
120,633,974 (GRCm39) |
missense |
probably benign |
|
|
R9036:Mbnl2
|
UTSW |
14 |
120,562,712 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9302:Mbnl2
|
UTSW |
14 |
120,622,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0018:Mbnl2
|
UTSW |
14 |
120,642,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mbnl2
|
UTSW |
14 |
120,640,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation