Mutagenetix > Incidental Mutation

Incidental Mutation 'R9691:Mbnl1'

729137

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 #

R9691 (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 60529614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 256 (T256A)

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 benign
Transcript: ENSMUST00000099087
AA Change: T348A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000096686
Gene: ENSMUSG00000027763
AA Change: T348A

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: T221A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142057
Gene: ENSMUSG00000027763
AA Change: T221A

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

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: ENSMUST00000192807
AA Change: T256A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000141915
Gene: ENSMUSG00000027763
AA Change: T256A

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: T354A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141287
Gene: ENSMUSG00000027763
AA Change: T354A

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: T269A

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142088
Gene: ENSMUSG00000027763
AA Change: T269A

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 damaging
Transcript: ENSMUST00000194201
AA Change: T269A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141954
Gene: ENSMUSG00000027763
AA Change: T269A

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,989,090 (GRCm39)	M3458T	possibly damaging	Het
Akap9	T	G	5: 4,010,491 (GRCm39)	L398R	probably damaging	Het
Anks3	A	T	16: 4,759,840 (GRCm39)	C635S	probably benign	Het
Ankzf1	C	A	1: 75,175,196 (GRCm39)	Q649K	probably benign	Het
Atp8a2	T	C	14: 60,245,829 (GRCm39)	E621G	probably damaging	Het
Bscl2	A	G	19: 8,817,110 (GRCm39)	T13A	probably benign	Het
Cd109	T	C	9: 78,611,074 (GRCm39)	L1230P	possibly damaging	Het
Celsr2	T	A	3: 108,301,551 (GRCm39)	S2678C	probably damaging	Het
Cnot10	A	G	9: 114,420,715 (GRCm39)	L709P	probably damaging	Het
Col5a1	G	A	2: 27,842,994 (GRCm39)	R449Q	unknown	Het
Cyp3a25	T	A	5: 145,931,732 (GRCm39)	E125D	probably benign	Het
Ddx50	T	G	10: 62,476,524 (GRCm39)	I250L	probably benign	Het
Dnah10	A	G	5: 124,852,249 (GRCm39)	N1859S	probably damaging	Het
Dnajc13	A	G	9: 104,042,211 (GRCm39)	L2008P	probably damaging	Het
Dock4	C	T	12: 40,686,097 (GRCm39)	L111F	probably damaging	Het
Ffar3	C	G	7: 30,555,119 (GRCm39)	R67P	probably damaging	Het
Gdap2	C	T	3: 100,109,441 (GRCm39)	A486V	probably benign	Het
Gm45871	G	A	18: 90,610,111 (GRCm39)	V450M	possibly damaging	Het
Golgb1	T	A	16: 36,718,996 (GRCm39)	S342T	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Grm5	T	C	7: 87,723,903 (GRCm39)	I731T	probably damaging	Het
Gxylt2	A	T	6: 100,760,109 (GRCm39)	T215S	probably damaging	Het
Jakmip2	A	T	18: 43,673,685 (GRCm39)	I793N	probably damaging	Het
Kcnc1	C	A	7: 46,076,955 (GRCm39)	C252*	probably null	Het
Kdr	T	A	5: 76,129,521 (GRCm39)	D122V	probably damaging	Het
Kmt2a	G	A	9: 44,731,557 (GRCm39)	P2920L	unknown	Het
Lrrc31	T	C	3: 30,741,617 (GRCm39)	E264G	probably damaging	Het
Myh3	A	G	11: 66,991,921 (GRCm39)	E1822G	possibly damaging	Het
Ndst4	A	G	3: 125,518,344 (GRCm39)	N155S	unknown	Het
Negr1	T	C	3: 156,267,898 (GRCm39)	C23R	probably damaging	Het
Nfia	T	A	4: 97,671,465 (GRCm39)	D58E	probably damaging	Het
Nrp1	A	T	8: 129,202,650 (GRCm39)	N545I	probably damaging	Het
Nrtn	T	A	17: 57,059,480 (GRCm39)		probably benign	Het
Or2a14	A	G	6: 43,130,629 (GRCm39)	H130R	probably benign	Het
Or4c100	T	C	2: 88,356,421 (GRCm39)	F165L	probably benign	Het
Or5an11	C	T	19: 12,246,379 (GRCm39)	R262*	probably null	Het
Pclo	G	A	5: 14,727,558 (GRCm39)	D2139N	unknown	Het
Phlpp1	C	T	1: 106,246,699 (GRCm39)	Q630*	probably null	Het
Pkd1	T	C	17: 24,796,812 (GRCm39)	V2429A	possibly damaging	Het
Pramel20	T	A	4: 143,299,328 (GRCm39)	H330Q	probably benign	Het
Pramel30	T	C	4: 144,056,844 (GRCm39)	L9P	probably damaging	Het
Prkch	A	G	12: 73,805,730 (GRCm39)	K502E	probably damaging	Het
Rad51ap2	A	G	12: 11,509,413 (GRCm39)	K930E	possibly damaging	Het
Reep4	T	A	14: 70,785,683 (GRCm39)	N204K	probably benign	Het
Rin2	T	C	2: 145,690,764 (GRCm39)	L144P	probably damaging	Het
Scfd2	T	C	5: 74,691,611 (GRCm39)	S224G	possibly damaging	Het
Srprb	A	G	9: 103,069,481 (GRCm39)	Y158H	probably damaging	Het
Thbs4	T	A	13: 92,890,896 (GRCm39)	H857L	probably damaging	Het
Tmem184a	A	G	5: 139,798,790 (GRCm39)	L77P	possibly damaging	Het
Trbv26	G	T	6: 41,204,478 (GRCm39)	C7F	probably benign	Het
Trip11	A	G	12: 101,850,123 (GRCm39)	S1314P	probably benign	Het
Ttc28	A	T	5: 111,431,879 (GRCm39)	T1951S	probably benign	Het
Ttc29	A	C	8: 78,972,895 (GRCm39)	D115A	possibly damaging	Het
Upf2	G	A	2: 6,032,024 (GRCm39)	V857I	unknown	Het
Vmn2r43	A	G	7: 8,247,787 (GRCm39)	V792A	probably damaging	Het
Washc5	A	T	15: 59,218,706 (GRCm39)	I687N	probably damaging	Het
Wwc2	G	A	8: 48,281,799 (GRCm39)		probably benign	Het
Xirp2	G	A	2: 67,340,539 (GRCm39)	E927K	possibly damaging	Het
Zc3hav1l	A	G	6: 38,276,112 (GRCm39)	F22L	probably benign	Het
Zfp407	C	T	18: 84,578,312 (GRCm39)	A934T	probably benign	Het
Zfp986	T	A	4: 145,626,070 (GRCm39)	S243R	probably benign	Het
Zfyve9	T	C	4: 108,576,305 (GRCm39)	T259A	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
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
R9594:Mbnl1	UTSW	3	60,520,859 (GRCm39)	missense	probably damaging	1.00
R9787:Mbnl1	UTSW	3	60,503,086 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATTGCATGTCACTCGCTGG -3'
(R):5'- TCTTTGAAAACCCATGCTCGTG -3'

Sequencing Primer
(F):5'- CACTCGCTGGTGATGATGTCC -3'
(R):5'- TGCTCGTGAAAGCACCCTC -3'

Posted On

2022-10-06