Mutagenetix > Incidental Mutation

Incidental Mutation 'R4577:Mbnl1'

342528

Institutional Source

Beutler Lab

Gene Symbol

Mbnl1

Ensembl Gene

ENSMUSG00000027763

Gene Name

muscleblind like splicing regulator 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R4577 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60380251-60537171 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60437199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 50 (V50I)

Ref Sequence

ENSEMBL: ENSMUSP00000141954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099087] [ENSMUST00000191747] [ENSMUST00000192607] [ENSMUST00000194201] [ENSMUST00000195077] [ENSMUST00000194069] [ENSMUST00000193517] [ENSMUST00000192807] [ENSMUST00000195724] [ENSMUST00000193647] [ENSMUST00000195001]

AlphaFold

Q9JKP5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099087
AA Change: V50I

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096686
Gene: ENSMUSG00000027763
AA Change: V50I

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 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

noncoding transcript
Transcript: ENSMUST00000192086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192394

Predicted Effect

probably damaging
Transcript: ENSMUST00000192607
AA Change: V50I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142095
Gene: ENSMUSG00000027763
AA Change: V50I

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

noncoding transcript
Transcript: ENSMUST00000192623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193130

Predicted Effect

probably damaging
Transcript: ENSMUST00000194201
AA Change: V50I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141954
Gene: ENSMUSG00000027763
AA Change: V50I

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

possibly damaging
Transcript: ENSMUST00000195077
AA Change: V50I

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142074
Gene: ENSMUSG00000027763
AA Change: V50I

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: ENSMUST00000194069
AA Change: V50I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141474
Gene: ENSMUSG00000027763
AA Change: V50I

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: ENSMUST00000193517
AA Change: V50I

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141287
Gene: ENSMUSG00000027763
AA Change: V50I

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

noncoding transcript
Transcript: ENSMUST00000192637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195839

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 benign
Transcript: ENSMUST00000195724

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: ENSMUST00000195001

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,430,323 (GRCm39)	I222S	probably damaging	Het
Abca1	C	A	4: 53,062,568 (GRCm39)	C1429F	possibly damaging	Het
Acacb	A	G	5: 114,364,892 (GRCm39)	E1524G	probably damaging	Het
Ankrd50	A	G	3: 38,510,090 (GRCm39)	V759A	probably damaging	Het
Ano9	T	C	7: 140,684,051 (GRCm39)	Q538R	probably damaging	Het
Bnip2	A	G	9: 69,904,444 (GRCm39)	D67G	probably benign	Het
Cacna1e	A	T	1: 154,277,773 (GRCm39)	S2060T	possibly damaging	Het
Cand2	G	A	6: 115,768,220 (GRCm39)	C455Y	probably damaging	Het
Cdh16	T	C	8: 105,345,191 (GRCm39)	D366G	probably damaging	Het
Cep170b	A	G	12: 112,711,152 (GRCm39)	R595G	probably damaging	Het
Chaf1a	G	A	17: 56,372,184 (GRCm39)	R784Q	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Clca4a	C	A	3: 144,660,730 (GRCm39)	S698I	probably damaging	Het
Dnah5	A	C	15: 28,289,396 (GRCm39)	Y1195S	probably benign	Het
Dynlt4	A	G	4: 116,985,812 (GRCm39)	T212A	possibly damaging	Het
Dysf	T	C	6: 84,114,308 (GRCm39)	I1229T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
F3	A	G	3: 121,527,763 (GRCm39)	I254V	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Fsd1l	T	C	4: 53,686,397 (GRCm39)	F270S	probably damaging	Het
Galnt3	T	C	2: 65,928,203 (GRCm39)	Y231C	probably benign	Het
Gm10220	A	C	5: 26,322,869 (GRCm39)	I181S	probably benign	Het
Gnb5	G	A	9: 75,250,823 (GRCm39)	V316I	possibly damaging	Het
Gys2	A	G	6: 142,400,236 (GRCm39)	F325S	possibly damaging	Het
Hmgn2	G	A	4: 133,694,668 (GRCm39)		probably benign	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Ighg2b	T	C	12: 113,270,512 (GRCm39)	E206G	unknown	Het
Iqub	A	T	6: 24,501,290 (GRCm39)	I220N	probably damaging	Het
Jmjd1c	A	G	10: 67,085,529 (GRCm39)	T2259A	probably damaging	Het
Kcnq3	T	C	15: 66,158,063 (GRCm39)	K4R	unknown	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
L3mbtl2	G	A	15: 81,570,486 (GRCm39)	E655K	probably benign	Het
Lrp1b	C	T	2: 40,711,731 (GRCm39)	C3163Y	probably damaging	Het
Map3k19	T	A	1: 127,750,550 (GRCm39)	R934*	probably null	Het
Map4	A	G	9: 109,910,489 (GRCm39)	T1061A	possibly damaging	Het
Med15	G	A	16: 17,492,379 (GRCm39)	Q132*	probably null	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mtmr3	G	C	11: 4,447,375 (GRCm39)	L361V	probably damaging	Het
Myo5a	A	G	9: 75,124,827 (GRCm39)	E1792G	probably damaging	Het
Nup88	C	A	11: 70,860,543 (GRCm39)	A55S	probably damaging	Het
Or1ab2	T	A	8: 72,864,167 (GRCm39)	Y252*	probably null	Het
Or4a79	T	C	2: 89,552,387 (GRCm39)	K23E	possibly damaging	Het
Pacs1	G	T	19: 5,193,861 (GRCm39)	S556*	probably null	Het
Parp4	A	G	14: 56,827,867 (GRCm39)	E206G	probably benign	Het
Paxbp1	T	G	16: 90,812,042 (GRCm39)	K889N	probably damaging	Het
Pcdhga2	G	A	18: 37,802,302 (GRCm39)	A49T	possibly damaging	Het
Pcsk6	T	A	7: 65,609,014 (GRCm39)	L292*	probably null	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Plec	C	A	15: 76,068,269 (GRCm39)	Q1142H	possibly damaging	Het
Pnpla2	T	C	7: 141,037,257 (GRCm39)	S87P	probably damaging	Het
Prss28	T	C	17: 25,529,079 (GRCm39)	V140A	probably damaging	Het
Rad17	A	T	13: 100,769,786 (GRCm39)	S258T	probably damaging	Het
Rnf111	A	T	9: 70,336,866 (GRCm39)	C932*	probably null	Het
Sdc2	T	C	15: 33,017,278 (GRCm39)	Y31H	probably damaging	Het
Selenoh	T	C	2: 84,500,675 (GRCm39)	E55G	possibly damaging	Het
Serpina3k	T	G	12: 104,310,451 (GRCm39)	V327G	possibly damaging	Het
Setd1b	A	G	5: 123,286,679 (GRCm39)	E575G	unknown	Het
Slco1a4	A	T	6: 141,765,266 (GRCm39)	S325R	probably damaging	Het
Smtnl1	C	A	2: 84,648,787 (GRCm39)	V156L	possibly damaging	Het
Spef1l	A	G	7: 139,558,043 (GRCm39)	I51T	probably damaging	Het
Speg	A	G	1: 75,392,039 (GRCm39)	D1607G	probably damaging	Het
Tmem101	T	A	11: 102,046,663 (GRCm39)	M69L	possibly damaging	Het
Treh	G	A	9: 44,597,208 (GRCm39)	M542I	probably benign	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Ttc6	T	C	12: 57,623,441 (GRCm39)	I280T	probably benign	Het
Ubtfl1	A	G	9: 18,320,789 (GRCm39)	T106A	probably damaging	Het
Wdr27	T	C	17: 15,123,724 (GRCm39)	H583R	probably benign	Het
Xirp2	C	T	2: 67,344,241 (GRCm39)	P2161S	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
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

Predicted Primers

PCR Primer
(F):5'- TCGGACATTTTCACAGTTATCTCAC -3'
(R):5'- GAGATCTAGTTGAGAGCCCCAG -3'

Sequencing Primer
(F):5'- CACACTCTGAGTTTTATCAGTTCC -3'
(R):5'- CAGGCCAGCCTCAGGAG -3'

Posted On

2015-09-24