Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03268:Mbnl2'

415166

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mbnl2

Ensembl Gene

ENSMUSG00000022139

Gene Name

muscleblind like splicing factor 2

Synonyms

1110002M11Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

IGL03268

Quality Score

Status

Chromosome

Chromosomal Location

120513081-120669109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120616569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 61 (C61F)

Ref Sequence

ENSEMBL: ENSMUSP00000126186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088419] [ENSMUST00000167459] [ENSMUST00000226800] [ENSMUST00000227012] [ENSMUST00000227594]

AlphaFold

Q8C181

Predicted Effect

probably damaging
Transcript: ENSMUST00000088419
AA Change: C61F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000085763
Gene: ENSMUSG00000022139
AA Change: C61F

Domain	Start	End	E-Value	Type
ZnF_C3H1	14	40	4.01e-5	SMART
ZnF_C3H1	47	72	1.43e-1	SMART
low complexity region	89	104	N/A	INTRINSIC
low complexity region	150	168	N/A	INTRINSIC
ZnF_C3H1	176	203	3.09e-6	SMART
ZnF_C3H1	213	237	7.15e-2	SMART
low complexity region	238	265	N/A	INTRINSIC
low complexity region	343	367	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167459
AA Change: C61F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126186
Gene: ENSMUSG00000022139
AA Change: C61F

Domain	Start	End	E-Value	Type
ZnF_C3H1	14	40	4.01e-5	SMART
ZnF_C3H1	47	72	1.43e-1	SMART
low complexity region	89	104	N/A	INTRINSIC
low complexity region	150	168	N/A	INTRINSIC
ZnF_C3H1	176	203	3.09e-6	SMART
ZnF_C3H1	213	237	7.15e-2	SMART
low complexity region	238	265	N/A	INTRINSIC
low complexity region	325	349	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000226800
AA Change: C61F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227012
AA Change: C61F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227484

Predicted Effect

probably damaging
Transcript: ENSMUST00000227594
AA Change: C61F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227644

Predicted Effect

probably benign
Transcript: ENSMUST00000228115

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes 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. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for one gene trap exhibit myotonia, lordosis and altered skeletal muscle fiber morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	G	T	4: 155,818,648 (GRCm39)		probably benign	Het
Acvrl1	A	T	15: 101,033,803 (GRCm39)	I162F	possibly damaging	Het
Adprhl1	A	G	8: 13,296,170 (GRCm39)		probably benign	Het
Anapc7	G	A	5: 122,567,669 (GRCm39)		probably null	Het
Ankrd13a	T	C	5: 114,930,296 (GRCm39)	L227P	probably damaging	Het
Anxa5	T	C	3: 36,504,828 (GRCm39)	I245V	probably benign	Het
Arf1	A	T	11: 59,103,663 (GRCm39)	V123E	possibly damaging	Het
Catsperg1	G	A	7: 28,899,668 (GRCm39)	R338C	probably damaging	Het
Cc2d1a	A	C	8: 84,860,154 (GRCm39)	L855R	probably damaging	Het
Cdh18	G	A	15: 23,366,953 (GRCm39)	A220T	probably damaging	Het
Cep350	T	C	1: 155,829,295 (GRCm39)	H203R	probably benign	Het
Cep78	G	T	19: 15,951,806 (GRCm39)	S333*	probably null	Het
Chrna2	T	A	14: 66,388,395 (GRCm39)		probably benign	Het
Dact1	T	C	12: 71,364,257 (GRCm39)	V346A	probably damaging	Het
Dcn	A	G	10: 97,319,240 (GRCm39)	I6V	probably benign	Het
Dlg3	A	G	X: 99,853,493 (GRCm39)	Y600C	probably damaging	Het
Dmd	A	G	X: 82,849,814 (GRCm39)	E1084G	probably damaging	Het
Epb41	A	C	4: 131,655,806 (GRCm39)	D825E	probably damaging	Het
Galc	T	A	12: 98,188,852 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,648,261 (GRCm39)	D675V	probably damaging	Het
Igkv2-137	A	G	6: 67,533,092 (GRCm39)	D85G	probably benign	Het
Kxd1	A	G	8: 70,961,136 (GRCm39)	I78T	probably damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lama2	A	T	10: 27,298,649 (GRCm39)	I149N	probably damaging	Het
Mcts1	T	C	X: 37,690,859 (GRCm39)	I22T	possibly damaging	Het
Or4k15b	T	C	14: 50,272,024 (GRCm39)	T279A	probably damaging	Het
Or52e3	T	G	7: 102,869,848 (GRCm39)	F308V	probably benign	Het
Pde12	T	A	14: 26,389,614 (GRCm39)	E365V	probably benign	Het
Prl8a2	A	G	13: 27,537,938 (GRCm39)	K204R	probably benign	Het
Rnf25	A	T	1: 74,638,217 (GRCm39)		probably benign	Het
Rragb	A	G	X: 151,923,493 (GRCm39)	D5G	unknown	Het
Rsrc2	T	A	5: 123,878,790 (GRCm39)	K56*	probably null	Het
Scn5a	T	C	9: 119,350,297 (GRCm39)	Q859R	probably damaging	Het
Septin4	G	A	11: 87,480,529 (GRCm39)	V388M	probably damaging	Het
Slc29a2	C	T	19: 5,074,531 (GRCm39)		probably benign	Het
Slc30a5	G	A	13: 100,943,211 (GRCm39)	T549I	probably damaging	Het
Slc7a2	A	G	8: 41,365,554 (GRCm39)	T462A	probably benign	Het
Spsb2	A	G	6: 124,786,450 (GRCm39)	E61G	probably damaging	Het
Srr	A	G	11: 74,803,943 (GRCm39)	Y5H	probably benign	Het
Suclg2	T	C	6: 95,546,573 (GRCm39)	D301G	probably damaging	Het
Syt14	A	G	1: 192,669,142 (GRCm39)	V37A	probably benign	Het
Syt9	A	G	7: 107,035,612 (GRCm39)	N210D	probably benign	Het
Tenm3	T	C	8: 48,688,558 (GRCm39)	D2343G	probably damaging	Het
Tma7	A	G	9: 108,907,450 (GRCm39)		probably benign	Het
Tor3a	T	C	1: 156,497,020 (GRCm39)	D175G	probably damaging	Het
Tpo	G	T	12: 30,144,964 (GRCm39)	A595D	possibly damaging	Het
Tpst2	T	C	5: 112,456,091 (GRCm39)	V210A	probably damaging	Het
Uchl1	A	T	5: 66,839,824 (GRCm39)	E122V	probably benign	Het
Vmn1r210	A	T	13: 23,011,405 (GRCm39)	F294I	probably benign	Het

Other mutations in Mbnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Mbnl2	APN	14	120,562,682 (GRCm39)	missense	probably damaging	1.00
IGL02303:Mbnl2	APN	14	120,642,059 (GRCm39)	missense	probably benign	0.28
IGL03225:Mbnl2	APN	14	120,622,875 (GRCm39)	missense	probably benign	0.04
R0193:Mbnl2	UTSW	14	120,616,649 (GRCm39)	missense	possibly damaging	0.94
R0423:Mbnl2	UTSW	14	120,562,736 (GRCm39)	missense	probably damaging	1.00
R0470:Mbnl2	UTSW	14	120,642,062 (GRCm39)	missense	probably damaging	1.00
R1749:Mbnl2	UTSW	14	120,626,462 (GRCm39)	missense	probably damaging	1.00
R4041:Mbnl2	UTSW	14	120,626,486 (GRCm39)	missense	probably damaging	1.00
R6190:Mbnl2	UTSW	14	120,622,833 (GRCm39)	missense	probably benign	0.01
R7346:Mbnl2	UTSW	14	120,616,694 (GRCm39)	missense	probably benign	0.00
R8928:Mbnl2	UTSW	14	120,633,974 (GRCm39)	missense	probably benign
R9036:Mbnl2	UTSW	14	120,562,712 (GRCm39)	missense	probably benign	0.38
R9302:Mbnl2	UTSW	14	120,622,950 (GRCm39)	missense	probably benign	0.00
X0018:Mbnl2	UTSW	14	120,642,101 (GRCm39)	missense	probably damaging	1.00
Z1176:Mbnl2	UTSW	14	120,640,771 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02