Incidental Mutation 'R8233:Mbnl1'
| ID |
637212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbnl1
|
| Ensembl Gene |
ENSMUSG00000027763 |
| Gene Name |
muscleblind like splicing regulator 1 |
| Synonyms |
|
| MMRRC Submission |
067665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R8233 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
60380251-60537171 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60532551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 274
(I274L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099087]
[ENSMUST00000191747]
[ENSMUST00000192607]
[ENSMUST00000192807]
[ENSMUST00000193517]
[ENSMUST00000193518]
[ENSMUST00000193647]
[ENSMUST00000194069]
[ENSMUST00000194201]
[ENSMUST00000195817]
|
| AlphaFold |
Q9JKP5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099087
AA Change: I366L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000096686
Gene: ENSMUSG00000027763
AA Change: I366L
| 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 |
probably benign
Transcript: ENSMUST00000191747
AA Change: I239L
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000142057
Gene: ENSMUSG00000027763
AA Change: I239L
| 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: H334L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142095
Gene: ENSMUSG00000027763
AA Change: H334L
| 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 benign
Transcript: ENSMUST00000192807
AA Change: I274L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141915
Gene: ENSMUSG00000027763
AA Change: I274L
| 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 |
probably benign
Transcript: ENSMUST00000193517
AA Change: I372L
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141287
Gene: ENSMUSG00000027763
AA Change: I372L
| 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: ENSMUST00000193518
AA Change: I287L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000142088
Gene: ENSMUSG00000027763
AA Change: I287L
| 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 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194069
AA Change: H340L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000141474
Gene: ENSMUSG00000027763
AA Change: H340L
| 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: ENSMUST00000194201
AA Change: I287L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000141954
Gene: ENSMUSG00000027763
AA Change: I287L
| 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 benign
Transcript: ENSMUST00000195817
AA Change: H202L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141576
Gene: ENSMUSG00000027763
AA Change: H202L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
A |
T |
18: 70,602,687 (GRCm39) |
V42E |
probably benign |
Het |
| Abca12 |
T |
C |
1: 71,390,916 (GRCm39) |
E153G |
probably benign |
Het |
| Adamts20 |
A |
C |
15: 94,189,533 (GRCm39) |
I1440S |
probably benign |
Het |
| Aspm |
T |
A |
1: 139,385,042 (GRCm39) |
S229T |
probably benign |
Het |
| Atp2b2 |
A |
T |
6: 113,742,680 (GRCm39) |
|
probably null |
Het |
| Cd101 |
G |
T |
3: 100,900,989 (GRCm39) |
H1032N |
unknown |
Het |
| Col6a2 |
A |
G |
10: 76,444,540 (GRCm39) |
|
probably null |
Het |
| Crot |
A |
T |
5: 9,026,027 (GRCm39) |
I320K |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,772,588 (GRCm39) |
D602E |
probably damaging |
Het |
| Degs1 |
A |
G |
1: 182,107,160 (GRCm39) |
V69A |
probably benign |
Het |
| Dgkz |
A |
G |
2: 91,769,994 (GRCm39) |
S557P |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,405,055 (GRCm39) |
L602Q |
|
Het |
| Gli2 |
A |
T |
1: 118,772,167 (GRCm39) |
Y513N |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,781,983 (GRCm39) |
T202A |
probably benign |
Het |
| Hnrnpa3 |
A |
G |
2: 75,492,860 (GRCm39) |
N195D |
probably benign |
Het |
| Ifna1 |
C |
T |
4: 88,768,628 (GRCm39) |
T102I |
possibly damaging |
Het |
| Igfbp3 |
T |
A |
11: 7,160,152 (GRCm39) |
H167L |
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,895,782 (GRCm39) |
T1595A |
probably benign |
Het |
| Krt14 |
A |
G |
11: 100,094,178 (GRCm39) |
V472A |
probably damaging |
Het |
| Lrrc74b |
T |
A |
16: 17,376,089 (GRCm39) |
H187L |
probably benign |
Het |
| Magoh |
T |
G |
4: 107,738,132 (GRCm39) |
V44G |
possibly damaging |
Het |
| Or13a27 |
T |
G |
7: 139,925,411 (GRCm39) |
M164L |
probably benign |
Het |
| Or4c108 |
C |
T |
2: 88,804,082 (GRCm39) |
R51H |
probably benign |
Het |
| Pdcd1 |
A |
G |
1: 93,967,142 (GRCm39) |
V252A |
probably damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plcxd3 |
A |
G |
15: 4,546,317 (GRCm39) |
D107G |
possibly damaging |
Het |
| Polr2m |
T |
A |
9: 71,390,866 (GRCm39) |
D112V |
probably benign |
Het |
| Ptprn |
A |
T |
1: 75,229,796 (GRCm39) |
M701K |
probably damaging |
Het |
| Rxrb |
A |
G |
17: 34,255,879 (GRCm39) |
D421G |
possibly damaging |
Het |
| Slfn4 |
A |
G |
11: 83,078,355 (GRCm39) |
E381G |
probably damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
A |
G |
10: 121,661,341 (GRCm39) |
I530T |
probably damaging |
Het |
| Stmn4 |
A |
G |
14: 66,595,341 (GRCm39) |
H122R |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,998,427 (GRCm39) |
E1031G |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,043,181 (GRCm39) |
T553A |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,609,086 (GRCm39) |
W217R |
unknown |
Het |
| Tyrp1 |
T |
C |
4: 80,769,190 (GRCm39) |
V161A |
unknown |
Het |
| Usp29 |
T |
A |
7: 6,965,406 (GRCm39) |
F416L |
probably benign |
Het |
| Usp45 |
T |
C |
4: 21,781,736 (GRCm39) |
V34A |
probably benign |
Het |
| Vmn1r119 |
A |
G |
7: 20,745,932 (GRCm39) |
V150A |
probably damaging |
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 |
|
IGL02382:Mbnl1
|
APN |
3 |
60,532,563 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGAGATTACAAGCAGTGATTTGC -3'
(R):5'- CCTGCTCTGTGGCTTTAAGG -3'
Sequencing Primer
(F):5'- CAGTGATTTGCTTCTATGGCATTTAC -3'
(R):5'- CTGCTCTGTGGCTTTAAGGTATCTTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation