Mutagenetix > Incidental Mutation

Incidental Mutation 'R7219:Mbnl1'

561642

Institutional Source

Beutler Lab

Gene Symbol

Mbnl1

Ensembl Gene

ENSMUSG00000027763

Gene Name

muscleblind like splicing regulator 1

Synonyms

MMRRC Submission

045291-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R7219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60380251-60537171 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60511244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 67 (N67D)

Ref Sequence

ENSEMBL: ENSMUSP00000141915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099087] [ENSMUST00000191747] [ENSMUST00000192607] [ENSMUST00000192807] [ENSMUST00000193517] [ENSMUST00000193518] [ENSMUST00000193647] [ENSMUST00000194069] [ENSMUST00000194201] [ENSMUST00000195077] [ENSMUST00000195817]

AlphaFold

Q9JKP5

Predicted Effect

probably benign
Transcript: ENSMUST00000099087
AA Change: N159D

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096686
Gene: ENSMUSG00000027763
AA Change: N159D

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
AA Change: N67D

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142057
Gene: ENSMUSG00000027763
AA Change: N67D

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 benign
Transcript: ENSMUST00000192607
AA Change: N159D

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142095
Gene: ENSMUSG00000027763
AA Change: N159D

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: ENSMUST00000192807
AA Change: N67D

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000141915
Gene: ENSMUSG00000027763
AA Change: N67D

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
AA Change: N159D

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141287
Gene: ENSMUSG00000027763
AA Change: N159D

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

possibly damaging
Transcript: ENSMUST00000193518
AA Change: N62D

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142088
Gene: ENSMUSG00000027763
AA Change: N62D

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

possibly damaging
Transcript: ENSMUST00000193647
AA Change: N67D

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141536
Gene: ENSMUSG00000027763
AA Change: N67D

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

possibly damaging
Transcript: ENSMUST00000194069
AA Change: N159D

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141474
Gene: ENSMUSG00000027763
AA Change: N159D

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: 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 benign
Transcript: ENSMUST00000195077
AA Change: N159D

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142074
Gene: ENSMUSG00000027763
AA Change: N159D

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

possibly damaging
Transcript: ENSMUST00000195817
AA Change: N62D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141576
Gene: ENSMUSG00000027763
AA Change: N62D

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

0.1006

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (77/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,508 (GRCm39)	S300P	unknown	Het
Abhd17a	T	A	10: 80,420,008 (GRCm39)	K226*	probably null	Het
Alkbh7	T	A	17: 57,305,508 (GRCm39)	H108Q	probably damaging	Het
Ankrd44	A	C	1: 54,806,069 (GRCm39)	H112Q	probably damaging	Het
Capn3	A	G	2: 120,333,935 (GRCm39)	E790G	probably damaging	Het
Cd47	C	A	16: 49,728,440 (GRCm39)	N330K	possibly damaging	Het
Cd55	A	G	1: 130,390,343 (GRCm39)	S22P	possibly damaging	Het
Cdc25a	A	G	9: 109,718,154 (GRCm39)	I373V	probably damaging	Het
Cfap43	T	C	19: 47,779,912 (GRCm39)	I514V	probably benign	Het
Cfap73	A	T	5: 120,768,200 (GRCm39)	M186K	probably benign	Het
Chd9	A	G	8: 91,728,394 (GRCm39)	D1270G	unknown	Het
Ciita	A	G	16: 10,330,121 (GRCm39)	T802A	probably benign	Het
Dlgap2	A	G	8: 14,793,296 (GRCm39)	E430G	probably benign	Het
Dlx1	C	A	2: 71,360,513 (GRCm39)	S59*	probably null	Het
Dnaaf3	T	C	7: 4,531,076 (GRCm39)	N119S	probably damaging	Het
Dnah11	T	G	12: 118,004,830 (GRCm39)	I2164L	possibly damaging	Het
Dnah11	T	C	12: 118,090,624 (GRCm39)	K1079R	probably benign	Het
Dnah12	C	T	14: 26,576,837 (GRCm39)	T3029I	probably damaging	Het
Dppa3	A	T	6: 122,606,918 (GRCm39)	Y136F	probably damaging	Het
Enox1	T	A	14: 77,958,284 (GRCm39)	M611K	probably benign	Het
Fam149a	A	T	8: 45,803,600 (GRCm39)	I378N	possibly damaging	Het
Farp2	T	C	1: 93,488,040 (GRCm39)	F89S	probably damaging	Het
Fbn2	C	T	18: 58,186,099 (GRCm39)	V1750M	probably benign	Het
Frs3	A	G	17: 48,013,620 (GRCm39)	T181A	probably damaging	Het
Heatr4	T	A	12: 84,004,644 (GRCm39)	I726F	possibly damaging	Het
Ighg1	T	G	12: 113,290,216 (GRCm39)	E375A		Het
Ikzf4	G	T	10: 128,470,252 (GRCm39)	Q476K	possibly damaging	Het
Kcnh1	G	T	1: 192,187,945 (GRCm39)	C829F	probably benign	Het
Krtap19-4	T	C	16: 88,681,797 (GRCm39)	Y53C	unknown	Het
Loricrin	C	A	3: 91,988,705 (GRCm39)	G194C	unknown	Het
Lrp1	A	C	10: 127,393,097 (GRCm39)	D2720E	probably benign	Het
Lrp4	A	G	2: 91,322,368 (GRCm39)	Y1068C	probably damaging	Het
Mrpl21	A	G	19: 3,336,998 (GRCm39)	E123G	probably benign	Het
Mst1	A	T	9: 107,958,485 (GRCm39)	D65V	probably damaging	Het
Myo15b	T	A	11: 115,767,921 (GRCm39)		probably null	Het
Myo5a	A	G	9: 75,028,052 (GRCm39)	Y79C	probably damaging	Het
Oas1c	A	T	5: 120,940,957 (GRCm39)	W279R	probably damaging	Het
Or4f4-ps1	A	T	2: 111,330,532 (GRCm39)	M312L	probably benign	Het
Or4k77	A	T	2: 111,199,882 (GRCm39)	I302L	probably benign	Het
Or51f5	A	G	7: 102,430,913 (GRCm39)	I77V	probably benign	Het
Pcdh9	C	T	14: 93,253,216 (GRCm39)	G1149D	possibly damaging	Het
Pcid2	G	A	8: 13,129,907 (GRCm39)	T283I	probably benign	Het
Pdhx	A	G	2: 102,858,760 (GRCm39)	V348A	probably benign	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psmb3	T	A	11: 97,602,023 (GRCm39)	M131K	probably null	Het
Raph1	A	G	1: 60,542,032 (GRCm39)	Y309H	unknown	Het
Rasgrf1	A	G	9: 89,866,341 (GRCm39)	N593S	probably damaging	Het
Rbm38	A	C	2: 172,863,990 (GRCm39)	E53A	possibly damaging	Het
Rufy3	A	G	5: 88,797,715 (GRCm39)	T631A	probably benign	Het
Sbno1	A	T	5: 124,543,722 (GRCm39)	D272E	probably benign	Het
Scamp1	T	A	13: 94,361,415 (GRCm39)	Y207F	probably damaging	Het
Scn8a	T	A	15: 100,866,984 (GRCm39)	S263R	probably damaging	Het
Setbp1	T	G	18: 78,798,960 (GRCm39)	T1407P	probably damaging	Het
Skor2	T	C	18: 76,948,096 (GRCm39)	L606P	possibly damaging	Het
Slc35f6	A	G	5: 30,814,796 (GRCm39)	N241S	probably benign	Het
Slc36a2	T	G	11: 55,059,744 (GRCm39)	D247A	probably benign	Het
Smim10l1	T	A	6: 133,084,895 (GRCm39)	F87L	unknown	Het
Son	T	C	16: 91,461,889 (GRCm39)	S2265P	unknown	Het
Spta1	A	G	1: 174,050,203 (GRCm39)	N1748D	probably damaging	Het
Sptbn2	A	G	19: 4,774,201 (GRCm39)	D84G	probably damaging	Het
Tasor2	T	A	13: 3,640,521 (GRCm39)	L205F	probably damaging	Het
Tbc1d24	G	A	17: 24,404,266 (GRCm39)	R293C	probably damaging	Het
Tex15	A	G	8: 34,036,268 (GRCm39)	T65A	probably benign	Het
Thyn1	A	G	9: 26,916,506 (GRCm39)	Y97C	probably damaging	Het
Tmem64	T	C	4: 15,266,700 (GRCm39)	L250P	probably damaging	Het
Tnfrsf9	A	T	4: 151,019,991 (GRCm39)	K217N	probably damaging	Het
Tnxb	A	G	17: 34,898,039 (GRCm39)	T896A	probably benign	Het
Trpm1	T	A	7: 63,854,333 (GRCm39)	I285N	possibly damaging	Het
Try5	T	A	6: 41,288,637 (GRCm39)	D194V	probably damaging	Het
U2surp	G	A	9: 95,372,215 (GRCm39)	R316*	probably null	Het
Ubr2	G	T	17: 47,246,360 (GRCm39)	S1618*	probably null	Het
Ugp2	T	C	11: 21,273,271 (GRCm39)	I449M	probably damaging	Het
Umodl1	A	G	17: 31,201,236 (GRCm39)		probably null	Het
Vmn2r31	C	T	7: 7,390,105 (GRCm39)	V538I	probably benign	Het
Vmn2r31	A	T	7: 7,397,397 (GRCm39)	M287K	probably damaging	Het
Wwc2	A	G	8: 48,311,919 (GRCm39)	V748A	unknown	Het
Zfp800	A	C	6: 28,243,662 (GRCm39)	H434Q	probably benign	Het
Zfp869	A	G	8: 70,159,356 (GRCm39)	C406R	probably damaging	Het
Zhx1	A	G	15: 57,917,733 (GRCm39)	V171A	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
R6229:Mbnl1	UTSW	3	60,528,749 (GRCm39)	splice site	probably null
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'- TGGAGACTTGCCATTAAGTTTTGC -3'
(R):5'- CCTAGACATAGATGCTGACTGATTTTG -3'

Sequencing Primer
(F):5'- CTTTTTGTTTCAATTTGCAGCCAATG -3'
(R):5'- ATTGTTGCATTAACCAAAACAGC -3'

Posted On

2019-06-26