Mutagenetix > Incidental Mutation

Incidental Mutation 'R9594:Mbnl1'

723142

Institutional Source

Beutler Lab

Gene Symbol

Mbnl1

Ensembl Gene

ENSMUSG00000027763

Gene Name

muscleblind like splicing regulator 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R9594 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60380251-60537171 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60520859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 149 (H149L)

Ref Sequence

ENSEMBL: ENSMUSP00000141915 (fasta)

Gene Model

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

AlphaFold

Q9JKP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000099087
AA Change: H241L

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

SMART Domains

Protein: ENSMUSP00000096686
Gene: ENSMUSG00000027763
AA Change: H241L

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 damaging
Transcript: ENSMUST00000191747
AA Change: H149L

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

SMART Domains

Protein: ENSMUSP00000142057
Gene: ENSMUSG00000027763
AA Change: H149L

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 damaging
Transcript: ENSMUST00000192607
AA Change: H241L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142095
Gene: ENSMUSG00000027763
AA Change: H241L

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 damaging
Transcript: ENSMUST00000192807
AA Change: H149L

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

SMART Domains

Protein: ENSMUSP00000141915
Gene: ENSMUSG00000027763
AA Change: H149L

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

possibly damaging
Transcript: ENSMUST00000193517
AA Change: H241L

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141287
Gene: ENSMUSG00000027763
AA Change: H241L

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 damaging
Transcript: ENSMUST00000193518
AA Change: H144L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142088
Gene: ENSMUSG00000027763
AA Change: H144L

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 damaging
Transcript: ENSMUST00000193647
AA Change: H149L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141536
Gene: ENSMUSG00000027763
AA Change: H149L

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 damaging
Transcript: ENSMUST00000194069
AA Change: H241L

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

SMART Domains

Protein: ENSMUSP00000141474
Gene: ENSMUSG00000027763
AA Change: H241L

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 damaging
Transcript: ENSMUST00000194201
AA Change: H174L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141954
Gene: ENSMUSG00000027763
AA Change: H174L

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 damaging
Transcript: ENSMUST00000195817
AA Change: H144L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141576
Gene: ENSMUSG00000027763
AA Change: H144L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aida	T	C	1: 183,095,012 (GRCm39)	V151A	possibly damaging	Het
Akap3	T	C	6: 126,842,377 (GRCm39)	V332A	probably damaging	Het
Apobec3	T	A	15: 79,790,653 (GRCm39)	W332R		Het
Atf6	A	G	1: 170,668,402 (GRCm39)	V166A	probably benign	Het
Bcl6b	A	G	11: 70,118,858 (GRCm39)		probably null	Het
Brd3	G	T	2: 27,340,373 (GRCm39)	P612Q	probably damaging	Het
Btg1	T	A	10: 96,453,263 (GRCm39)	L26H	probably damaging	Het
Btg4	A	G	9: 51,030,560 (GRCm39)	D220G	probably damaging	Het
Cd209e	T	C	8: 3,901,183 (GRCm39)	D157G	probably benign	Het
Cdhr18	A	T	14: 13,814,959 (GRCm38)	L858Q	unknown	Het
Cimip2b	T	G	4: 43,427,329 (GRCm39)	T332P	unknown	Het
Dnah10	T	C	5: 124,907,107 (GRCm39)	L4269P	probably damaging	Het
Dync1li2	C	A	8: 105,154,752 (GRCm39)	K285N	possibly damaging	Het
Ehmt2	C	A	17: 35,118,740 (GRCm39)	Q198K	possibly damaging	Het
Foxn3	C	A	12: 99,359,294 (GRCm39)		probably benign	Het
Fstl4	C	T	11: 52,664,694 (GRCm39)	P8L	probably benign	Het
G6pc1	T	C	11: 101,258,660 (GRCm39)	I13T	possibly damaging	Het
Ghrhr	A	G	6: 55,362,470 (GRCm39)	I356V	probably benign	Het
Gm14410	A	T	2: 176,885,773 (GRCm39)	C164S	probably damaging	Het
Gpcpd1	A	T	2: 132,388,848 (GRCm39)	M308K	possibly damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,225,727 (GRCm39)	K2143E	probably benign	Het
Grm2	G	A	9: 106,524,408 (GRCm39)	T298I	probably damaging	Het
H2-T24	A	T	17: 36,326,455 (GRCm39)	L148Q	probably damaging	Het
Hcn2	C	T	10: 79,560,559 (GRCm39)	R297C	probably damaging	Het
Hic1	T	C	11: 75,056,757 (GRCm39)	T711A	possibly damaging	Het
Ide	T	C	19: 37,264,514 (GRCm39)	D672G		Het
Impg1	A	G	9: 80,288,923 (GRCm39)	F378S	probably damaging	Het
Lipe	T	C	7: 25,098,128 (GRCm39)		probably benign	Het
Lmo7	A	G	14: 102,156,136 (GRCm39)	D1270G	probably null	Het
Mmel1	T	C	4: 154,978,592 (GRCm39)	Y675H	probably benign	Het
Mrfap1	C	A	5: 36,953,807 (GRCm39)	R44L	probably damaging	Het
Nherf2	G	T	17: 24,868,922 (GRCm39)	T68K	probably damaging	Het
Notch2	A	G	3: 98,041,889 (GRCm39)	T1303A	possibly damaging	Het
Olfm3	A	G	3: 114,883,785 (GRCm39)	D62G	probably damaging	Het
Or10ak13	T	C	4: 118,638,952 (GRCm39)	I277V	probably benign	Het
Or2i1	C	G	17: 37,508,308 (GRCm39)	A109P	possibly damaging	Het
Or5g27	C	T	2: 85,409,882 (GRCm39)	Q100*	probably null	Het
Or5l13	T	C	2: 87,780,544 (GRCm39)	E11G	probably damaging	Het
Or5p59	T	G	7: 107,702,663 (GRCm39)	I49S	probably damaging	Het
Or6c8b	T	A	10: 128,882,354 (GRCm39)	I193F	probably benign	Het
Pcbd2	A	G	13: 55,880,849 (GRCm39)	Y68C	probably benign	Het
Phf3	G	C	1: 30,869,003 (GRCm39)	Q682E	probably benign	Het
Ptpn6	C	A	6: 124,704,728 (GRCm39)	R294L	probably benign	Het
Ptprz1	T	A	6: 23,025,026 (GRCm39)	V1754D	probably damaging	Het
Rab36	T	A	10: 74,887,873 (GRCm39)	I248K	probably damaging	Het
Rabac1	A	G	7: 24,671,579 (GRCm39)	Y114H	probably benign	Het
Rag1	A	G	2: 101,474,701 (GRCm39)	V147A	probably benign	Het
Rnf150	T	A	8: 83,717,144 (GRCm39)	V217D	probably damaging	Het
Scarf2	G	T	16: 17,620,473 (GRCm39)	C101F	probably damaging	Het
Sh3glb2	C	T	2: 30,236,672 (GRCm39)	R230Q	probably damaging	Het
Slc13a1	A	G	6: 24,089,100 (GRCm39)	V550A	probably damaging	Het
Sp140	A	G	1: 85,560,235 (GRCm39)	N289S	possibly damaging	Het
Spmip6	T	C	4: 41,505,091 (GRCm39)	E207G		Het
Stac3	T	A	10: 127,338,654 (GRCm39)	M1K	probably null	Het
Stk31	C	T	6: 49,424,221 (GRCm39)	T845I	possibly damaging	Het
Sufu	T	C	19: 46,385,674 (GRCm39)	Y45H	probably damaging	Het
Tg	T	A	15: 66,607,109 (GRCm39)	C1834*	probably null	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Tpcn1	T	C	5: 120,686,021 (GRCm39)	T427A	possibly damaging	Het
Trim45	A	G	3: 100,830,265 (GRCm39)	H13R	probably benign	Het
Trpv5	A	G	6: 41,647,773 (GRCm39)	F347L	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Zfp236	G	T	18: 82,664,238 (GRCm39)	Q516K	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
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
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'- CATGCTCATATTGACTGAATCCCG -3'
(R):5'- ATCTTCAGCAAAACGGGAGG -3'

Sequencing Primer
(F):5'- GACTGAATCCCGTGCATTTAATGACC -3'
(R):5'- TCTTCAGCAAAACGGGAGGAAGAG -3'

Posted On

2022-08-09