Incidental Mutation 'R4041:Mbnl2'
| ID |
313894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbnl2
|
| Ensembl Gene |
ENSMUSG00000022139 |
| Gene Name |
muscleblind like splicing factor 2 |
| Synonyms |
1110002M11Rik |
| MMRRC Submission |
040966-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
R4041 (G1)
|
| Quality Score |
172 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
120513081-120669109 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120626486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 239
(H239Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088419]
[ENSMUST00000167459]
[ENSMUST00000226800]
[ENSMUST00000227012]
[ENSMUST00000227594]
|
| AlphaFold |
Q8C181 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088419
AA Change: H239Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085763
Gene: ENSMUSG00000022139
AA Change: H239Y
| 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 damaging
Transcript: ENSMUST00000167459
AA Change: H239Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126186
Gene: ENSMUSG00000022139
AA Change: H239Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000181685
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226800
AA Change: H239Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227012
AA Change: H239Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227484
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227594
AA Change: H239Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228115
AA Change: H150Y
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (29/29) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf5 |
T |
C |
7: 44,462,921 (GRCm39) |
T68A |
possibly damaging |
Het |
| Cage1 |
A |
G |
13: 38,203,153 (GRCm39) |
L637P |
possibly damaging |
Het |
| Cfl1 |
T |
C |
19: 5,542,556 (GRCm39) |
I12T |
probably benign |
Het |
| Clcn1 |
A |
G |
6: 42,286,902 (GRCm39) |
E653G |
probably damaging |
Het |
| Cntnap5a |
C |
A |
1: 116,112,129 (GRCm39) |
P473Q |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,120,655 (GRCm39) |
S91P |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,813,404 (GRCm39) |
Q2313R |
probably benign |
Het |
| Gpc5 |
A |
T |
14: 115,370,628 (GRCm39) |
Q151L |
probably damaging |
Het |
| Hexim1 |
A |
G |
11: 103,007,932 (GRCm39) |
E62G |
probably benign |
Het |
| Ifna13 |
A |
G |
4: 88,562,228 (GRCm39) |
F132S |
probably benign |
Het |
| Irgm2 |
A |
G |
11: 58,110,956 (GRCm39) |
M228V |
probably benign |
Het |
| Klhl41 |
A |
G |
2: 69,501,054 (GRCm39) |
M172V |
probably benign |
Het |
| Klk1 |
A |
T |
7: 43,878,986 (GRCm39) |
N260I |
probably damaging |
Het |
| Krit1 |
G |
C |
5: 3,859,642 (GRCm39) |
R110P |
probably damaging |
Het |
| Krt7 |
T |
A |
15: 101,321,161 (GRCm39) |
|
probably null |
Het |
| Lrrn4cl |
T |
A |
19: 8,829,468 (GRCm39) |
Y149N |
probably damaging |
Het |
| Ltbp3 |
G |
T |
19: 5,801,899 (GRCm39) |
C739F |
possibly damaging |
Het |
| Obscn |
G |
A |
11: 58,942,357 (GRCm39) |
R4942* |
probably null |
Het |
| Or2bd2 |
T |
C |
7: 6,443,688 (GRCm39) |
L263P |
probably damaging |
Het |
| R3hcc1 |
A |
G |
14: 69,944,111 (GRCm39) |
S45P |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,785,356 (GRCm39) |
H1778Q |
possibly damaging |
Het |
| Scyl2 |
T |
A |
10: 89,485,914 (GRCm39) |
K558N |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,991,586 (GRCm39) |
V677M |
unknown |
Het |
| Slc39a5 |
T |
C |
10: 128,232,337 (GRCm39) |
M488V |
possibly damaging |
Het |
| Styk1 |
A |
T |
6: 131,289,880 (GRCm39) |
|
probably null |
Het |
| Styxl2 |
T |
C |
1: 165,927,680 (GRCm39) |
D644G |
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,908,565 (GRCm39) |
V1047A |
probably benign |
Het |
| Wnt3a |
G |
T |
11: 59,140,470 (GRCm39) |
H349N |
probably damaging |
Het |
| Zbtb39 |
T |
C |
10: 127,579,423 (GRCm39) |
C666R |
probably damaging |
Het |
| Zfp420 |
T |
C |
7: 29,575,427 (GRCm39) |
M549T |
probably benign |
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 |
|
IGL02303:Mbnl2
|
APN |
14 |
120,642,059 (GRCm39) |
missense |
probably benign |
0.28 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGTATGCAGGGAGTTCC -3'
(R):5'- GATGACGACAGAGCTTAGGC -3'
Sequencing Primer
(F):5'- TCCAGCGAGGAAACTGTGC -3'
(R):5'- AATGGCAGCCTTGTCTCCCAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation