Mutagenetix > Incidental Mutation

Incidental Mutation 'R9477:Mbnl1'

715845

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: 0.941) question?

Stock #

R9477 (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 G at 60520769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 119 (D119G)

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: D211G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096686
Gene: ENSMUSG00000027763
AA Change: D211G

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: D119G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142057
Gene: ENSMUSG00000027763
AA Change: D119G

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

possibly damaging
Transcript: ENSMUST00000192607
AA Change: D211G

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142095
Gene: ENSMUSG00000027763
AA Change: D211G

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 damaging
Transcript: ENSMUST00000192807
AA Change: D119G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141915
Gene: ENSMUSG00000027763
AA Change: D119G

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 damaging
Transcript: ENSMUST00000193517
AA Change: D211G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141287
Gene: ENSMUSG00000027763
AA Change: D211G

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: D114G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142088
Gene: ENSMUSG00000027763
AA Change: D114G

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: D119G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141536
Gene: ENSMUSG00000027763
AA Change: D119G

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: D211G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141474
Gene: ENSMUSG00000027763
AA Change: D211G

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

possibly damaging
Transcript: ENSMUST00000194201
AA Change: D144G

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

SMART Domains

Protein: ENSMUSP00000141954
Gene: ENSMUSG00000027763
AA Change: D144G

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: D114G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141576
Gene: ENSMUSG00000027763
AA Change: D114G

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

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	T	1: 89,765,485 (GRCm39)	M618L	probably benign	Het
Anxa2r2	A	T	13: 120,488,282 (GRCm39)	I89N	probably damaging	Het
App	C	A	16: 84,853,392 (GRCm39)	A229S	unknown	Het
B020011L13Rik	G	T	1: 117,728,903 (GRCm39)	E137*	probably null	Het
BC034090	C	T	1: 155,102,087 (GRCm39)	G59E	probably damaging	Het
C1ra	A	G	6: 124,499,455 (GRCm39)	D547G	probably benign	Het
Cdh2	A	T	18: 16,755,212 (GRCm39)	D774E	probably damaging	Het
Cdon	A	G	9: 35,403,201 (GRCm39)	N1104D	probably damaging	Het
Cecr2	G	A	6: 120,720,743 (GRCm39)		probably null	Het
Ces2b	A	T	8: 105,560,556 (GRCm39)	N124Y	probably damaging	Het
Cfap61	A	G	2: 145,985,032 (GRCm39)	T959A	probably benign	Het
Chaf1a	A	T	17: 56,369,244 (GRCm39)	K492*	probably null	Het
Clec14a	A	G	12: 58,314,620 (GRCm39)	V334A	probably benign	Het
Col6a3	A	G	1: 90,706,621 (GRCm39)	I2771T	unknown	Het
Creb3	T	C	4: 43,566,298 (GRCm39)	L244P	probably damaging	Het
Crispld1	T	C	1: 17,816,956 (GRCm39)	V171A	probably benign	Het
Crmp1	T	C	5: 37,446,182 (GRCm39)	Y613H	probably damaging	Het
Csrnp3	G	A	2: 65,852,819 (GRCm39)	V416I	probably benign	Het
Dhrs1	A	G	14: 55,976,868 (GRCm39)	V272A	probably benign	Het
Dip2b	T	C	15: 99,936,784 (GRCm39)	S32P	probably damaging	Het
Dpp10	G	T	1: 123,304,370 (GRCm39)	T510K	possibly damaging	Het
Dst	A	G	1: 34,205,292 (GRCm39)	Y820C	probably damaging	Het
Efcab3	A	T	11: 104,836,698 (GRCm39)	H3562L	unknown	Het
Fam3c	A	T	6: 22,308,479 (GRCm39)	M238K	probably damaging	Het
Fcgbpl1	T	C	7: 27,852,265 (GRCm39)	F1263L	probably damaging	Het
Fcrl2	A	T	3: 87,159,803 (GRCm39)	C484S	probably damaging	Het
Fsd1	T	C	17: 56,295,720 (GRCm39)	L97P	possibly damaging	Het
Gapdhs	T	C	7: 30,431,682 (GRCm39)	I310V	probably damaging	Het
Gimap4	A	T	6: 48,667,314 (GRCm39)	N23I	probably benign	Het
Gpr21	T	A	2: 37,408,386 (GRCm39)	F311I	probably damaging	Het
Grm1	T	C	10: 10,595,405 (GRCm39)	E741G	probably benign	Het
Gsto2	G	A	19: 47,864,911 (GRCm39)	R148H	probably benign	Het
Gzmd	A	G	14: 56,368,813 (GRCm39)	V27A	probably benign	Het
Hbp1	A	G	12: 31,980,766 (GRCm39)	C446R	probably damaging	Het
Hmcn2	A	T	2: 31,286,031 (GRCm39)		probably null	Het
Ifi205	G	A	1: 173,854,155 (GRCm39)	T166I	probably benign	Het
Il23a	T	A	10: 128,133,922 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jag1	A	T	2: 136,936,409 (GRCm39)	C362S	probably damaging	Het
Jmjd1c	A	T	10: 66,993,734 (GRCm39)	R72*	probably null	Het
Kcna6	A	G	6: 126,716,361 (GRCm39)	I176T	probably damaging	Het
Marchf1	T	C	8: 66,871,542 (GRCm39)	V102A	probably damaging	Het
Mast1	T	C	8: 85,638,779 (GRCm39)	K1517E	probably benign	Het
Mfsd8	A	G	3: 40,785,057 (GRCm39)		probably null	Het
Mtus2	T	G	5: 148,014,740 (GRCm39)	V511G	probably benign	Het
Myot	A	C	18: 44,470,333 (GRCm39)	Q103H	probably benign	Het
Nrip2	G	A	6: 128,377,145 (GRCm39)	D24N	probably benign	Het
Ntm	T	A	9: 29,322,922 (GRCm39)	S33C	probably benign	Het
Nus1	C	T	10: 52,294,001 (GRCm39)	T55M	possibly damaging	Het
Or4c112	G	A	2: 88,853,615 (GRCm39)	T244I	probably benign	Het
Pik3cb	C	T	9: 98,922,973 (GRCm39)		probably null	Het
Pogk	T	C	1: 166,227,404 (GRCm39)	N249S	probably damaging	Het
Pou1f1	C	T	16: 65,320,503 (GRCm39)	T66I	possibly damaging	Het
Ppp1r42	T	G	1: 10,055,854 (GRCm39)	K211N	probably damaging	Het
Ppp2r3d	C	A	9: 124,476,857 (GRCm38)	D2Y		Het
Prdm5	A	T	6: 65,771,342 (GRCm39)	N51I	possibly damaging	Het
Rif1	G	A	2: 52,001,342 (GRCm39)	A1599T	probably benign	Het
Sema3c	G	A	5: 17,921,981 (GRCm39)	A520T		Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Spice1	T	A	16: 44,197,183 (GRCm39)	N489K	possibly damaging	Het
Sptbn4	A	G	7: 27,132,624 (GRCm39)	M116T	possibly damaging	Het
Supt5	T	A	7: 28,025,500 (GRCm39)	N249Y	probably damaging	Het
Tex2	A	G	11: 106,410,706 (GRCm39)		probably null	Het
Trhde	T	A	10: 114,338,980 (GRCm39)	E610V	probably benign	Het
Trmt12	T	C	15: 58,745,471 (GRCm39)	S290P	possibly damaging	Het
Trpm2	C	T	10: 77,747,224 (GRCm39)	V1425M	probably benign	Het
Uaca	T	C	9: 60,778,108 (GRCm39)	S832P	probably benign	Het
Vcan	T	A	13: 89,841,128 (GRCm39)	D1472V	probably damaging	Het
Virma	A	G	4: 11,528,753 (GRCm39)	E1330G	probably damaging	Het
Vmn1r125	T	G	7: 21,006,261 (GRCm39)	V53G	possibly damaging	Het
Vmn2r27	A	T	6: 124,168,910 (GRCm39)	I740N	probably damaging	Het
Vmn2r70	C	T	7: 85,218,244 (GRCm39)	C18Y	possibly damaging	Het
Zfp35	A	G	18: 24,136,188 (GRCm39)	I177M	possibly damaging	Het
Zfp532	T	C	18: 65,777,428 (GRCm39)	I895T	probably benign	Het
Zfp58	C	A	13: 67,640,158 (GRCm39)	C111F	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
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'- CATGTACACCCTTGGTCACC -3'
(R):5'- TTCTGATTGCTGACAGGAGG -3'

Sequencing Primer
(F):5'- ACCCTTGGTCACCAATTTGGATAG -3'
(R):5'- GTCTCCACTCACCATGGCAG -3'

Posted On

2022-06-15