Incidental Mutation 'R9787:Mbnl1'
| ID |
734386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbnl1
|
| Ensembl Gene |
ENSMUSG00000027763 |
| Gene Name |
muscleblind like splicing regulator 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.942)
|
| Stock # |
R9787 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
60380251-60537171 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60503086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 82
(N82K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099087]
[ENSMUST00000191747]
[ENSMUST00000192607]
[ENSMUST00000192807]
[ENSMUST00000193517]
[ENSMUST00000193518]
[ENSMUST00000193647]
[ENSMUST00000194069]
[ENSMUST00000194201]
[ENSMUST00000195001]
[ENSMUST00000195077]
[ENSMUST00000195724]
[ENSMUST00000195817]
|
| AlphaFold |
Q9JKP5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099087
AA Change: N82K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096686
Gene: ENSMUSG00000027763
AA Change: N82K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142057
Gene: ENSMUSG00000027763
| 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 damaging
Transcript: ENSMUST00000192607
AA Change: N82K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142095
Gene: ENSMUSG00000027763
AA Change: N82K
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192807
|
| SMART Domains |
Protein: ENSMUSP00000141915
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 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193517
AA Change: N82K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141287
Gene: ENSMUSG00000027763
AA Change: N82K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142088
Gene: ENSMUSG00000027763
| 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 damaging
Transcript: ENSMUST00000194069
AA Change: N82K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141474
Gene: ENSMUSG00000027763
AA Change: N82K
| 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 damaging
Transcript: ENSMUST00000194201
AA Change: N82K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141954
Gene: ENSMUSG00000027763
AA Change: N82K
| 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: ENSMUST00000195001
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195077
AA Change: N82K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142074
Gene: ENSMUSG00000027763
AA Change: N82K
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195817
|
| SMART Domains |
Protein: ENSMUSP00000141576
Gene: ENSMUSG00000027763
| 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: 99.8%
- 10x: 99.3%
- 20x: 97.9%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
T |
C |
7: 43,150,695 (GRCm39) |
T26A |
probably benign |
Het |
| Arhgap27 |
A |
G |
11: 103,230,048 (GRCm39) |
S239P |
possibly damaging |
Het |
| Bambi |
T |
C |
18: 3,511,515 (GRCm39) |
V112A |
possibly damaging |
Het |
| BC034090 |
T |
A |
1: 155,117,955 (GRCm39) |
E54D |
possibly damaging |
Het |
| Cdin1 |
T |
A |
2: 115,505,236 (GRCm39) |
L169Q |
probably damaging |
Het |
| Chst13 |
C |
T |
6: 90,286,074 (GRCm39) |
R296H |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Ctbs |
T |
A |
3: 146,160,109 (GRCm39) |
V46E |
probably damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,259 (GRCm39) |
I356V |
probably benign |
Het |
| Dot1l |
A |
G |
10: 80,600,472 (GRCm39) |
T40A |
probably benign |
Het |
| Dst |
C |
T |
1: 34,219,524 (GRCm39) |
T1988M |
probably benign |
Het |
| Fam184a |
T |
A |
10: 53,626,864 (GRCm39) |
D38V |
possibly damaging |
Het |
| Fank1 |
T |
A |
7: 133,463,887 (GRCm39) |
F83I |
probably damaging |
Het |
| Fto |
T |
A |
8: 92,211,886 (GRCm39) |
W404R |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,791,004 (GRCm39) |
R279S |
possibly damaging |
Het |
| Garem2 |
C |
T |
5: 30,319,219 (GRCm39) |
P227L |
probably damaging |
Het |
| Gfra4 |
C |
A |
2: 130,884,600 (GRCm39) |
M1I |
probably null |
Het |
| Gin1 |
T |
A |
1: 97,703,211 (GRCm39) |
H11Q |
probably damaging |
Het |
| Gli3 |
G |
A |
13: 15,900,386 (GRCm39) |
G1258R |
probably damaging |
Het |
| Gsx1 |
T |
C |
5: 147,126,677 (GRCm39) |
S167P |
probably damaging |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Il7 |
G |
A |
3: 7,641,171 (GRCm39) |
R82C |
probably damaging |
Het |
| Lair1 |
A |
T |
7: 4,013,794 (GRCm39) |
V151E |
probably damaging |
Het |
| Lpar1 |
T |
C |
4: 58,437,349 (GRCm39) |
D360G |
probably benign |
Het |
| Malrd1 |
T |
A |
2: 15,625,401 (GRCm39) |
N345K |
unknown |
Het |
| Mtdh |
C |
A |
15: 34,123,844 (GRCm39) |
T357N |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,227,748 (GRCm39) |
K1306* |
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,461,518 (GRCm39) |
C2685S |
probably benign |
Het |
| Optn |
T |
A |
2: 5,036,150 (GRCm39) |
Q444L |
probably damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,899 (GRCm39) |
L56H |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,144,223 (GRCm39) |
D157E |
probably benign |
Het |
| Pole |
G |
A |
5: 110,465,866 (GRCm39) |
|
probably null |
Het |
| Stau2 |
A |
T |
1: 16,530,595 (GRCm39) |
I108N |
unknown |
Het |
| Sugp2 |
A |
G |
8: 70,695,428 (GRCm39) |
K134E |
probably benign |
Het |
| Tcaf3 |
C |
T |
6: 42,574,024 (GRCm39) |
V63I |
probably benign |
Het |
| Tcf7 |
T |
A |
11: 52,173,773 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tubb2b |
T |
C |
13: 34,312,409 (GRCm39) |
D128G |
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,178,324 (GRCm39) |
Q100L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,112,620 (GRCm39) |
N2230K |
probably benign |
Het |
| Zc3hav1l |
T |
C |
6: 38,272,101 (GRCm39) |
T223A |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,455,506 (GRCm39) |
D1167N |
possibly damaging |
Het |
| Zfp36 |
A |
T |
7: 28,077,344 (GRCm39) |
L200Q |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,994,205 (GRCm39) |
L650F |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAACTTCACTGAGCCTTTAAAC -3'
(R):5'- TGCATACAATCACTGTTTCAGGAC -3'
Sequencing Primer
(F):5'- AATGCTGTGAGTGATAAATTGTGAG -3'
(R):5'- TGTTTCAGGACAGACACAGAAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation