Incidental Mutation 'IGL02382:Mbnl1'
| ID |
291407 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mbnl1
|
| Ensembl Gene |
ENSMUSG00000027763 |
| Gene Name |
muscleblind like splicing regulator 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
IGL02382
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
60380251-60537171 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 60532563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 291
(E291*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099087]
[ENSMUST00000191747]
[ENSMUST00000192607]
[ENSMUST00000192807]
[ENSMUST00000193518]
[ENSMUST00000194201]
[ENSMUST00000193517]
[ENSMUST00000195817]
[ENSMUST00000194069]
[ENSMUST00000193647]
|
| AlphaFold |
Q9JKP5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099087
AA Change: E370*
|
| SMART Domains |
Protein: ENSMUSP00000096686
Gene: ENSMUSG00000027763
AA Change: E370*
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
14 |
40 |
2.57e-3 |
SMART |
|
ZnF_C3H1
|
47 |
72 |
1.43e-1 |
SMART |
|
low complexity region
|
89 |
107 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
178 |
205 |
1.77e-6 |
SMART |
|
ZnF_C3H1
|
215 |
239 |
2.91e-2 |
SMART |
|
low complexity region
|
248 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191638
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000191747
AA Change: E243*
|
| SMART Domains |
Protein: ENSMUSP00000142057
Gene: ENSMUSG00000027763
AA Change: E243*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
86 |
113 |
1.77e-6 |
SMART |
|
ZnF_C3H1
|
123 |
147 |
2.91e-2 |
SMART |
|
low complexity region
|
156 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192607
AA Change: R338L
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000142095
Gene: ENSMUSG00000027763
AA Change: R338L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
14 |
40 |
2.57e-3 |
SMART |
|
ZnF_C3H1
|
47 |
72 |
1.43e-1 |
SMART |
|
low complexity region
|
89 |
107 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
178 |
205 |
1.77e-6 |
SMART |
|
ZnF_C3H1
|
215 |
239 |
2.91e-2 |
SMART |
|
low complexity region
|
248 |
273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000192807
AA Change: E278*
|
| SMART Domains |
Protein: ENSMUSP00000141915
Gene: ENSMUSG00000027763
AA Change: E278*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
86 |
113 |
7.5e-9 |
SMART |
|
ZnF_C3H1
|
123 |
147 |
1.3e-4 |
SMART |
|
low complexity region
|
156 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193130
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193175
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193518
AA Change: E291*
|
| SMART Domains |
Protein: ENSMUSP00000142088
Gene: ENSMUSG00000027763
AA Change: E291*
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
81 |
108 |
7.5e-9 |
SMART |
|
ZnF_C3H1
|
118 |
142 |
1.3e-4 |
SMART |
|
low complexity region
|
151 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
282 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000194201
AA Change: E291*
|
| SMART Domains |
Protein: ENSMUSP00000141954
Gene: ENSMUSG00000027763
AA Change: E291*
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
14 |
40 |
2.57e-3 |
SMART |
|
ZnF_C3H1
|
47 |
72 |
1.43e-1 |
SMART |
|
low complexity region
|
89 |
107 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
111 |
138 |
1.23e-5 |
SMART |
|
ZnF_C3H1
|
148 |
172 |
2.91e-2 |
SMART |
|
low complexity region
|
181 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
282 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193517
AA Change: E376*
|
| SMART Domains |
Protein: ENSMUSP00000141287
Gene: ENSMUSG00000027763
AA Change: E376*
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
14 |
40 |
1.1e-5 |
SMART |
|
ZnF_C3H1
|
47 |
72 |
6.1e-4 |
SMART |
|
low complexity region
|
89 |
107 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
178 |
205 |
7.5e-9 |
SMART |
|
ZnF_C3H1
|
215 |
239 |
1.3e-4 |
SMART |
|
low complexity region
|
248 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
367 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195817
AA Change: R206L
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141576
Gene: ENSMUSG00000027763
AA Change: R206L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
81 |
108 |
7.5e-9 |
SMART |
|
ZnF_C3H1
|
118 |
142 |
1.3e-4 |
SMART |
|
low complexity region
|
151 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194069
AA Change: R344L
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000141474
Gene: ENSMUSG00000027763
AA Change: R344L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
14 |
40 |
1.1e-5 |
SMART |
|
ZnF_C3H1
|
47 |
72 |
6.1e-4 |
SMART |
|
low complexity region
|
89 |
107 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
178 |
205 |
7.5e-9 |
SMART |
|
ZnF_C3H1
|
215 |
239 |
1.3e-4 |
SMART |
|
low complexity region
|
248 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193647
|
| SMART Domains |
Protein: ENSMUSP00000141536
Gene: ENSMUSG00000027763
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
86 |
113 |
7.5e-9 |
SMART |
|
ZnF_C3H1
|
123 |
147 |
1.3e-4 |
SMART |
|
low complexity region
|
156 |
180 |
N/A |
INTRINSIC |
|
| 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 encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is 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. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a targeted mutation that disrupts exon 3 exhibit myotonia, cataracts and RNA splicing defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aim2 |
A |
G |
1: 173,287,315 (GRCm39) |
|
probably null |
Het |
| Aoc2 |
T |
C |
11: 101,217,498 (GRCm39) |
L527P |
probably damaging |
Het |
| Arhgef15 |
C |
A |
11: 68,844,856 (GRCm39) |
R247L |
probably damaging |
Het |
| Armcx2 |
T |
C |
X: 133,706,416 (GRCm39) |
T406A |
probably benign |
Het |
| Armcx5 |
T |
C |
X: 134,647,577 (GRCm39) |
F551S |
probably damaging |
Het |
| Ccrl2 |
T |
C |
9: 110,884,947 (GRCm39) |
K184E |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,953,147 (GRCm39) |
I1534V |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,791,840 (GRCm39) |
I381K |
probably benign |
Het |
| Crb1 |
T |
A |
1: 139,165,352 (GRCm39) |
N924I |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,925,934 (GRCm39) |
V729A |
probably damaging |
Het |
| Dab2 |
T |
A |
15: 6,466,468 (GRCm39) |
V615D |
possibly damaging |
Het |
| Edrf1 |
T |
C |
7: 133,252,344 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,849,594 (GRCm39) |
T1409I |
unknown |
Het |
| Gm14406 |
C |
A |
2: 177,260,988 (GRCm39) |
|
probably benign |
Het |
| Kptn |
T |
A |
7: 15,857,945 (GRCm39) |
S258T |
probably benign |
Het |
| Mcm4 |
A |
T |
16: 15,442,602 (GRCm39) |
L843Q |
probably damaging |
Het |
| Mgrn1 |
A |
G |
16: 4,740,482 (GRCm39) |
N274D |
probably damaging |
Het |
| Or13a21 |
T |
A |
7: 139,999,516 (GRCm39) |
T57S |
possibly damaging |
Het |
| Or8d1 |
G |
A |
9: 38,766,364 (GRCm39) |
G2D |
probably benign |
Het |
| Phactr4 |
A |
T |
4: 132,098,152 (GRCm39) |
V335E |
probably damaging |
Het |
| Ptgr2 |
T |
C |
12: 84,360,722 (GRCm39) |
S331P |
probably damaging |
Het |
| Ranbp9 |
T |
C |
13: 43,589,622 (GRCm39) |
|
probably null |
Het |
| Setd5 |
A |
G |
6: 113,120,601 (GRCm39) |
T937A |
probably benign |
Het |
| Slc27a4 |
C |
T |
2: 29,699,855 (GRCm39) |
R265C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tenm3 |
A |
G |
8: 48,688,511 (GRCm39) |
Y2359H |
probably damaging |
Het |
| Tnip3 |
T |
C |
6: 65,591,779 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
C |
T |
10: 115,252,781 (GRCm39) |
Q1365* |
probably null |
Het |
|
| Other mutations in Mbnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01936:Mbnl1
|
APN |
3 |
60,520,940 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
IGL02970:Mbnl1
|
APN |
3 |
60,520,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1662:Mbnl1
|
UTSW |
3 |
60,532,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Mbnl1
|
UTSW |
3 |
60,511,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Mbnl1
|
UTSW |
3 |
60,437,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Mbnl1
|
UTSW |
3 |
60,503,117 (GRCm39) |
start codon destroyed |
probably null |
|
|
R6184:Mbnl1
|
UTSW |
3 |
60,523,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6229:Mbnl1
|
UTSW |
3 |
60,528,749 (GRCm39) |
splice site |
probably null |
|
|
R7219:Mbnl1
|
UTSW |
3 |
60,511,244 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7397:Mbnl1
|
UTSW |
3 |
60,523,051 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7808:Mbnl1
|
UTSW |
3 |
60,522,242 (GRCm39) |
splice site |
probably null |
|
|
R8233:Mbnl1
|
UTSW |
3 |
60,532,551 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8435:Mbnl1
|
UTSW |
3 |
60,437,090 (GRCm39) |
nonsense |
probably null |
|
|
R8459:Mbnl1
|
UTSW |
3 |
60,529,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9330:Mbnl1
|
UTSW |
3 |
60,511,168 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9477:Mbnl1
|
UTSW |
3 |
60,520,769 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9563:Mbnl1
|
UTSW |
3 |
60,520,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9594:Mbnl1
|
UTSW |
3 |
60,520,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9691:Mbnl1
|
UTSW |
3 |
60,529,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9787:Mbnl1
|
UTSW |
3 |
60,503,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation