Mutagenetix > Incidental Mutation

Incidental Mutation 'R7808:Mbnl1'

628585

Institutional Source

Beutler Lab

Gene Symbol

Mbnl1

Ensembl Gene

ENSMUSG00000027763

Gene Name

muscleblind like splicing regulator 1

Synonyms

MMRRC Submission

045863-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R7808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60380251-60537171 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 60522242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141576 (fasta)

Gene Model

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

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

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

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 benign
Transcript: ENSMUST00000192757

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

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

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 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 null
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

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (86/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 86,957,297 (GRCm39)	V11A	probably benign	Het
Abca12	A	T	1: 71,313,793 (GRCm39)		probably null	Het
Abcc12	T	A	8: 87,234,568 (GRCm39)	M1232L	probably benign	Het
Adamts1	T	C	16: 85,597,117 (GRCm39)	Y314C	probably damaging	Het
Adgb	A	G	10: 10,254,403 (GRCm39)		probably null	Het
Ankrd12	T	A	17: 66,292,648 (GRCm39)	K928N	possibly damaging	Het
Ano5	A	T	7: 51,237,543 (GRCm39)	K789I	possibly damaging	Het
Cacna1d	G	T	14: 29,833,026 (GRCm39)	N938K	probably damaging	Het
Camk1g	T	C	1: 193,032,593 (GRCm39)	R273G	possibly damaging	Het
Caprin2	C	A	6: 148,744,528 (GRCm39)	V966F	probably damaging	Het
Card6	T	C	15: 5,128,954 (GRCm39)	H814R	probably benign	Het
Cenatac	T	C	9: 44,324,215 (GRCm39)	Q228R	probably null	Het
Cflar	A	G	1: 58,750,740 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,204,204 (GRCm39)	N66K	probably benign	Het
Clasrp	C	T	7: 19,322,671 (GRCm39)		probably null	Het
Clec4a4	T	C	6: 122,967,339 (GRCm39)	I5T	probably damaging	Het
Cmtr2	T	C	8: 110,948,251 (GRCm39)	I187T	possibly damaging	Het
Cnga1	A	T	5: 72,761,616 (GRCm39)	F633I	possibly damaging	Het
Col16a1	C	T	4: 129,967,057 (GRCm39)	P909S	unknown	Het
Csf1	C	A	3: 107,667,361 (GRCm39)	A7S	possibly damaging	Het
Cstpp1	T	C	2: 91,274,939 (GRCm39)		probably benign	Het
Dhx30	A	T	9: 109,915,270 (GRCm39)	V833D	probably benign	Het
Dlg2	T	G	7: 92,080,263 (GRCm39)	I712M	probably benign	Het
Dmxl1	T	A	18: 50,011,382 (GRCm39)	F1180I	probably benign	Het
Dnah9	T	A	11: 65,896,631 (GRCm39)	K2398*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Dync1h1	A	T	12: 110,621,893 (GRCm39)	N3412I	possibly damaging	Het
Dync1i2	T	A	2: 71,081,178 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,047,911 (GRCm39)	S333P	possibly damaging	Het
Eed	A	T	7: 89,605,541 (GRCm39)	N349K	probably benign	Het
Eipr1	A	T	12: 28,816,769 (GRCm39)		probably null	Het
Fbxw16	A	C	9: 109,277,222 (GRCm39)	V40G	probably damaging	Het
Fgfr4	A	C	13: 55,308,969 (GRCm39)	R363S	possibly damaging	Het
Fgl2	A	T	5: 21,578,229 (GRCm39)	N172I	possibly damaging	Het
Fhip1b	G	A	7: 105,033,732 (GRCm39)	R509C	probably damaging	Het
Gabbr2	T	A	4: 46,875,744 (GRCm39)	H126L	possibly damaging	Het
Gcnt2	A	T	13: 41,014,338 (GRCm39)	N170Y	possibly damaging	Het
Gpt	A	G	15: 76,583,093 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,235,489 (GRCm39)	I1564T	probably benign	Het
Il22ra1	C	A	4: 135,478,107 (GRCm39)	Q393K	possibly damaging	Het
Inpp5d	A	T	1: 87,611,567 (GRCm39)	K340*	probably null	Het
Jcad	A	G	18: 4,673,113 (GRCm39)	K292E	probably damaging	Het
Krt5	T	A	15: 101,617,453 (GRCm39)	T427S	probably benign	Het
Krt76	T	C	15: 101,798,929 (GRCm39)	D252G	probably damaging	Het
Krtap26-1	A	G	16: 88,444,198 (GRCm39)	V141A	not run	Het
Lce6a	A	T	3: 92,527,642 (GRCm39)	V55D	probably benign	Het
Lpxn	C	T	19: 12,802,185 (GRCm39)	S170F	possibly damaging	Het
Magi2	T	C	5: 20,670,838 (GRCm39)	V394A	probably benign	Het
Med16	T	A	10: 79,734,252 (GRCm39)	K554M	probably damaging	Het
Mettl14	T	C	3: 123,166,234 (GRCm39)	D276G	possibly damaging	Het
Mphosph9	T	C	5: 124,399,009 (GRCm39)	D1002G	probably damaging	Het
Mroh9	T	C	1: 162,866,678 (GRCm39)	E686G	probably damaging	Het
Nav1	T	C	1: 135,379,986 (GRCm39)	Y1512C	unknown	Het
Neb	T	C	2: 52,082,035 (GRCm39)	Y5712C	probably damaging	Het
Nek7	T	A	1: 138,489,509 (GRCm39)		probably benign	Het
Nptx1	T	A	11: 119,435,462 (GRCm39)	I285F	probably damaging	Het
Oas1d	G	T	5: 121,053,034 (GRCm39)	E30*	probably null	Het
Or1p1b	A	T	11: 74,130,725 (GRCm39)	I112F	probably damaging	Het
Or51g2	A	G	7: 102,622,317 (GRCm39)	V294A	possibly damaging	Het
Or6n1	C	A	1: 173,917,417 (GRCm39)	Y270*	probably null	Het
Parp4	T	G	14: 56,873,205 (GRCm39)	S1150A	possibly damaging	Het
Pinx1	A	T	14: 64,156,741 (GRCm39)	K223*	probably null	Het
Plekha5	T	C	6: 140,529,640 (GRCm39)	L1034S	probably damaging	Het
Ppp4r3a	A	G	12: 101,019,755 (GRCm39)	V400A	possibly damaging	Het
Prtg	A	T	9: 72,749,979 (GRCm39)	I128F	possibly damaging	Het
Rars1	T	C	11: 35,719,534 (GRCm39)	E96G	probably benign	Het
Rhpn1	T	A	15: 75,585,299 (GRCm39)	S551T	probably benign	Het
Selenow	C	T	7: 15,656,176 (GRCm39)		probably null	Het
Serpina9	A	T	12: 103,967,484 (GRCm39)		probably null	Het
Shank3	A	T	15: 89,433,083 (GRCm39)	D1276V	probably damaging	Het
Slc27a6	A	G	18: 58,742,267 (GRCm39)	T494A	probably damaging	Het
Slc34a1	A	C	13: 24,003,317 (GRCm39)	H285P	probably damaging	Het
Slc6a21	A	C	7: 44,932,360 (GRCm39)	T54P		Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Tal1	T	C	4: 114,925,489 (GRCm39)	V186A	probably benign	Het
Tars3	A	G	7: 65,302,009 (GRCm39)	K178E	probably benign	Het
Tex10	T	A	4: 48,459,984 (GRCm39)	I456L	probably benign	Het
Tfcp2	A	G	15: 100,420,310 (GRCm39)	F175S	probably damaging	Het
Timp2	C	T	11: 118,194,626 (GRCm39)	A188T	probably damaging	Het
Tmc5	T	A	7: 118,268,440 (GRCm39)	I836N	probably damaging	Het
Tmem100	T	A	11: 89,926,302 (GRCm39)	M43K	probably benign	Het
Ulk2	A	G	11: 61,745,378 (GRCm39)	Y9H	probably damaging	Het
Usp7	T	C	16: 8,523,027 (GRCm39)	K311E	probably damaging	Het
Vmn1r238	G	A	18: 3,123,033 (GRCm39)	T127I	probably benign	Het
Vmn2r28	T	C	7: 5,496,678 (GRCm39)	Y58C	probably damaging	Het
Wdr55	G	A	18: 36,893,469 (GRCm39)	G44S	probably benign	Het
Zfp677	C	A	17: 21,617,647 (GRCm39)	H235N	probably damaging	Het
Zfp869	T	A	8: 70,159,636 (GRCm39)	R312S	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
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'- AATGCGCTTGAACCCCACTG -3'
(R):5'- AAACTGAATGTGGGCTGCTGG -3'

Sequencing Primer
(F):5'- TGAACCCCACTGGCCCATTG -3'
(R):5'- GGGATTCCAGTCTTTCATTGTAC -3'

Posted On

2020-05-12