Mutagenetix > Incidental Mutation

Incidental Mutation 'R6229:Mbnl1'

526352

Institutional Source

Beutler Lab

Gene Symbol

Mbnl1

Ensembl Gene

ENSMUSG00000027763

Gene Name

muscleblind like splicing regulator 1

Synonyms

MMRRC Submission

044358-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R6229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60380251-60537171 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 60528749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099087] [ENSMUST00000191747] [ENSMUST00000192607] [ENSMUST00000192807] [ENSMUST00000193518] [ENSMUST00000193647] [ENSMUST00000195817] [ENSMUST00000194201] [ENSMUST00000194069] [ENSMUST00000193517]

AlphaFold

Q9JKP5

Predicted Effect

probably null
Transcript: ENSMUST00000099087

SMART Domains

Protein: ENSMUSP00000096686
Gene: ENSMUSG00000027763

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

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: ENSMUST00000192394

Predicted Effect

probably null
Transcript: ENSMUST00000192607

SMART Domains

Protein: ENSMUSP00000142095
Gene: ENSMUSG00000027763

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

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

noncoding transcript
Transcript: ENSMUST00000193130

Predicted Effect

probably null
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 null
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 null
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

Predicted Effect

probably benign
Transcript: ENSMUST00000194201

SMART Domains

Protein: ENSMUSP00000141954
Gene: ENSMUSG00000027763

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

noncoding transcript
Transcript: ENSMUST00000193175

Predicted Effect

probably benign
Transcript: ENSMUST00000194069

SMART Domains

Protein: ENSMUSP00000141474
Gene: ENSMUSG00000027763

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

SMART Domains

Protein: ENSMUSP00000141287
Gene: ENSMUSG00000027763

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	A	1: 120,099,213 (GRCm39)		probably null	Het
Adamts6	G	A	13: 104,483,900 (GRCm39)		probably null	Het
Add3	C	A	19: 53,223,277 (GRCm39)	A343D	probably benign	Het
Ankub1	T	C	3: 57,572,528 (GRCm39)	D398G	probably benign	Het
Apbb1	C	T	7: 105,222,937 (GRCm39)	A225T	probably damaging	Het
Apbb1	C	A	7: 105,222,938 (GRCm39)	W224C	probably damaging	Het
Arhgef40	A	T	14: 52,227,547 (GRCm39)	Q431L	probably benign	Het
Calm4	A	G	13: 3,888,038 (GRCm39)	D48G	possibly damaging	Het
Ccdc18	A	T	5: 108,319,484 (GRCm39)	I502L	probably benign	Het
Cftr	T	C	6: 18,220,683 (GRCm39)	S185P	probably damaging	Het
Chd2	C	A	7: 73,101,471 (GRCm39)	K1418N	possibly damaging	Het
Cmya5	A	C	13: 93,229,814 (GRCm39)	V1758G	probably benign	Het
Cpsf4l	T	C	11: 113,599,680 (GRCm39)	K35R	possibly damaging	Het
Cyp2c68	A	T	19: 39,727,622 (GRCm39)	V119E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah3	G	T	7: 119,564,711 (GRCm39)	Q2651K	probably benign	Het
Eif4g2	T	C	7: 110,676,920 (GRCm39)		probably null	Het
Enc1	A	G	13: 97,381,999 (GRCm39)	R170G	probably benign	Het
Enpp2	T	C	15: 54,741,228 (GRCm39)	R357G	probably damaging	Het
Epb41l2	A	G	10: 25,375,734 (GRCm39)	K58E	possibly damaging	Het
Fis1	A	G	5: 136,994,528 (GRCm39)		probably null	Het
Fmo9	A	C	1: 166,505,126 (GRCm39)	M89R	possibly damaging	Het
Gm6096	A	C	7: 33,950,676 (GRCm39)	I72L	possibly damaging	Het
Golga5	G	A	12: 102,450,740 (GRCm39)	M464I	probably benign	Het
Got1l1	T	C	8: 27,688,464 (GRCm39)		probably null	Het
Ift56	T	A	6: 38,371,975 (GRCm39)	N188K	probably benign	Het
Igfbpl1	A	G	4: 45,813,517 (GRCm39)	Y233H	probably damaging	Het
Il18r1	T	C	1: 40,513,923 (GRCm39)	I43T	probably benign	Het
Ints8	T	C	4: 11,252,891 (GRCm39)	N64D	probably damaging	Het
Kalrn	A	G	16: 33,875,441 (GRCm39)	S44P	probably damaging	Het
Kif13b	G	T	14: 64,976,016 (GRCm39)	G444W	probably damaging	Het
Lmo1	A	G	7: 108,742,832 (GRCm39)	C13R	probably damaging	Het
Lrfn2	T	A	17: 49,404,160 (GRCm39)	M761K	possibly damaging	Het
Lrrd1	T	C	5: 3,913,887 (GRCm39)	I719T	probably damaging	Het
Madd	A	T	2: 90,974,015 (GRCm39)	V1423E	probably damaging	Het
Mrps28	T	C	3: 8,965,097 (GRCm39)	D114G	probably damaging	Het
Muc6	T	A	7: 141,226,792 (GRCm39)	M1412L	probably benign	Het
Myf6	T	C	10: 107,330,280 (GRCm39)	K96E	possibly damaging	Het
Myrf	A	G	19: 10,197,162 (GRCm39)	V462A	probably benign	Het
Nbeal1	T	C	1: 60,287,524 (GRCm39)	S923P	possibly damaging	Het
Nckap1l	T	C	15: 103,381,549 (GRCm39)	L430P	possibly damaging	Het
Nfatc2ip	C	T	7: 125,995,113 (GRCm39)		probably null	Het
Or11g24	A	G	14: 50,662,662 (GRCm39)	R229G	probably benign	Het
Or12e10	G	T	2: 87,640,431 (GRCm39)	C89F	probably damaging	Het
Or2w4	T	C	13: 21,795,819 (GRCm39)	I107V	probably benign	Het
Or7g33	T	A	9: 19,449,014 (GRCm39)	I71F	possibly damaging	Het
Plin2	A	G	4: 86,586,903 (GRCm39)	V5A	probably benign	Het
Pramel31	T	C	4: 144,090,199 (GRCm39)	M413T	probably benign	Het
Ptprm	T	A	17: 66,995,295 (GRCm39)	D1311V	probably damaging	Het
Recql5	A	T	11: 115,821,540 (GRCm39)	I72N	probably damaging	Het
Sall2	A	T	14: 52,550,648 (GRCm39)	M847K	probably benign	Het
Slc23a1	T	C	18: 35,752,577 (GRCm39)	R567G	probably benign	Het
Slc28a1	G	A	7: 80,774,753 (GRCm39)	R200H	probably benign	Het
Smc4	T	A	3: 68,937,580 (GRCm39)	Y843*	probably null	Het
Syne2	C	A	12: 75,967,994 (GRCm39)	Q915K	probably benign	Het
Tas2r131	T	A	6: 132,933,985 (GRCm39)	I275F	probably damaging	Het
Tcf20	T	C	15: 82,739,081 (GRCm39)	H790R	probably damaging	Het
Tm7sf3	A	G	6: 146,514,887 (GRCm39)	F310S	possibly damaging	Het
Tmem9b	T	A	7: 109,344,627 (GRCm39)		probably null	Het
Tnfaip8	A	G	18: 50,184,742 (GRCm39)		probably benign	Het
Top2b	T	G	14: 16,409,838 (GRCm38)	L835R	probably damaging	Het
Trappc8	A	T	18: 21,003,802 (GRCm39)	S209T	probably benign	Het
Uap1	C	T	1: 169,994,302 (GRCm39)	R58Q	probably benign	Het
Upk3bl	A	G	5: 136,092,915 (GRCm39)		probably null	Het
Usp34	A	G	11: 23,396,778 (GRCm39)	H596R	probably damaging	Het
Vmn1r181	C	T	7: 23,683,580 (GRCm39)	A15V	probably damaging	Het
Vmn2r54	T	A	7: 12,365,883 (GRCm39)	K350N	probably benign	Het
Vmn2r89	A	G	14: 51,693,178 (GRCm39)	H176R	probably benign	Het
Vwa7	A	G	17: 35,243,241 (GRCm39)	R640G	probably benign	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
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'- TGCTTATAGGCAGCAGCTGAG -3'
(R):5'- GGGAAATGGACTTGCCCAATAG -3'

Sequencing Primer
(F):5'- CTTATAGGCAGCAGCTGAGAGAAAC -3'
(R):5'- GTGAGCTGCACCATAGGTTTAAG -3'

Posted On

2018-06-25