Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01063:Mtmr14'

51231

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtmr14

Ensembl Gene

ENSMUSG00000030269

Gene Name

myotubularin related protein 14

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL01063

Quality Score

Status

Chromosome

Chromosomal Location

113237843-113281392 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113266326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 40 (F40I)

Ref Sequence

ENSEMBL: ENSMUSP00000118001 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113146] [ENSMUST00000129883] [ENSMUST00000134945] [ENSMUST00000142938] [ENSMUST00000203385]

AlphaFold

Q8VEL2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113146
AA Change: F372I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108771
Gene: ENSMUSG00000030269
AA Change: F372I

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
Blast:C2	605	647	2e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000129883

SMART Domains

Protein: ENSMUSP00000114575
Gene: ENSMUSG00000030269

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000134945
AA Change: F40I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118001
Gene: ENSMUSG00000030269
AA Change: F40I

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Blast:C2	221	256	3e-10	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000137772
AA Change: F85I

SMART Domains

Protein: ENSMUSP00000119000
Gene: ENSMUSG00000030269
AA Change: F85I

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	10	231	5.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142938

SMART Domains

Protein: ENSMUSP00000121136
Gene: ENSMUSG00000030269

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144976

Predicted Effect

unknown
Transcript: ENSMUST00000148523
AA Change: F50I

SMART Domains

Protein: ENSMUSP00000115808
Gene: ENSMUSG00000030269
AA Change: F50I

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	1	102	4.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151149

Predicted Effect

probably benign
Transcript: ENSMUST00000203385

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 encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired coordination, decreased exercise endurance, increased muscle fatigue, and muscle atrophy associated with impaired muscular calcium homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
4930444P10Rik	A	T	1: 16,078,646	L61*	probably null	Het
Abca7	T	C	10: 80,011,297	I1705T	probably damaging	Het
Ablim1	T	A	19: 57,061,328	I393F	probably damaging	Het
Adamts5	A	G	16: 85,899,834	L145P	probably damaging	Het
Ano6	T	C	15: 95,948,429	I537T	probably damaging	Het
AU018091	T	C	7: 3,162,313	I190V	possibly damaging	Het
Camk1	T	A	6: 113,338,372	D155V	probably damaging	Het
Cdh6	A	C	15: 13,064,495	I103S	probably damaging	Het
Cntnap1	A	G	11: 101,181,788	D537G	probably benign	Het
Col6a3	T	C	1: 90,802,332	K1144E	probably damaging	Het
Cpeb1	T	A	7: 81,372,181	E71D	probably benign	Het
Cps1	T	C	1: 67,195,166	L904P	possibly damaging	Het
Cyfip1	T	A	7: 55,904,210	F700I	probably damaging	Het
Dmp1	G	A	5: 104,207,099	M1I	probably null	Het
Efcab6	A	T	15: 84,054,512	M1K	probably null	Het
Extl2	A	T	3: 116,027,482	H312L	possibly damaging	Het
Fat4	C	A	3: 38,890,579	A1207D	possibly damaging	Het
Flnb	T	C	14: 7,926,518		probably benign	Het
Hdac10	G	T	15: 89,123,868	A593E	possibly damaging	Het
Hdhd2	T	C	18: 76,965,273		probably null	Het
Kcnq2	A	G	2: 181,109,789		probably benign	Het
Kdm7a	A	G	6: 39,165,130	F405L	probably damaging	Het
Lypd6b	C	A	2: 49,943,630		probably benign	Het
Mki67	A	T	7: 135,694,922	D2794E	possibly damaging	Het
Olfr131	G	T	17: 38,082,653	S108R	possibly damaging	Het
Olfr213	T	A	6: 116,541,007	C185S	probably damaging	Het
Olfr476	A	T	7: 107,967,534	I46F	probably damaging	Het
Olfr986	A	T	9: 40,187,756	I214F	probably benign	Het
Ppargc1a	C	A	5: 51,474,322	V322L	probably benign	Het
Ppfibp1	T	A	6: 147,029,697	M917K	probably benign	Het
Prkg2	C	T	5: 98,969,936		probably null	Het
Rfx4	A	G	10: 84,868,382	E296G	possibly damaging	Het
Rfx8	T	A	1: 39,682,950	K292*	probably null	Het
Scamp3	C	A	3: 89,177,666		probably benign	Het
Scn4a	A	T	11: 106,330,364	I823N	possibly damaging	Het
Sdk2	A	G	11: 113,830,842	V1316A	probably damaging	Het
Setd2	T	C	9: 110,573,673	V1794A	probably damaging	Het
Stard8	G	T	X: 99,073,088	R983L	probably damaging	Het
Tbc1d23	A	T	16: 57,192,675	D311E	probably benign	Het
Tex21	T	C	12: 76,198,818	H568R	probably benign	Het
Tex35	T	C	1: 157,105,097		probably benign	Het
Tgs1	T	A	4: 3,591,292	F442I	possibly damaging	Het
Traf2	C	A	2: 25,524,919	C303F	probably benign	Het
Trim56	A	T	5: 137,114,500	V54D	possibly damaging	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het
Zfp668	A	T	7: 127,866,282	C577S	probably damaging	Het

Other mutations in Mtmr14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01686:Mtmr14	APN	6	113240430	missense	possibly damaging	0.58
IGL02508:Mtmr14	APN	6	113240306	missense	probably damaging	1.00
R0147:Mtmr14	UTSW	6	113260666	splice site	probably benign
R0394:Mtmr14	UTSW	6	113280688	nonsense	probably null
R0529:Mtmr14	UTSW	6	113266252	unclassified	probably benign
R0675:Mtmr14	UTSW	6	113270647	missense	probably damaging	0.99
R0723:Mtmr14	UTSW	6	113270512	unclassified	probably benign
R0785:Mtmr14	UTSW	6	113277947	critical splice donor site	probably null
R0866:Mtmr14	UTSW	6	113239582	critical splice donor site	probably null
R1721:Mtmr14	UTSW	6	113253732	missense	probably damaging	1.00
R1998:Mtmr14	UTSW	6	113277924	missense	probably null
R2063:Mtmr14	UTSW	6	113240361	missense	probably damaging	1.00
R2192:Mtmr14	UTSW	6	113280739	missense	probably damaging	1.00
R2656:Mtmr14	UTSW	6	113240366	missense	probably benign	0.03
R4648:Mtmr14	UTSW	6	113260606	missense	probably benign	0.12
R5209:Mtmr14	UTSW	6	113253775	nonsense	probably null
R5509:Mtmr14	UTSW	6	113253807	critical splice donor site	probably null
R5569:Mtmr14	UTSW	6	113240285	missense	probably damaging	0.96
R5589:Mtmr14	UTSW	6	113261282	critical splice donor site	probably null
R5924:Mtmr14	UTSW	6	113253789	missense	probably damaging	1.00
R5997:Mtmr14	UTSW	6	113280614	missense	probably damaging	0.97
R6182:Mtmr14	UTSW	6	113269508	missense	possibly damaging	0.78
R6658:Mtmr14	UTSW	6	113265476	nonsense	probably null
R6752:Mtmr14	UTSW	6	113240397	missense	probably damaging	1.00
R7325:Mtmr14	UTSW	6	113269548	missense	probably damaging	0.98
R7512:Mtmr14	UTSW	6	113268691	nonsense	probably null
R7816:Mtmr14	UTSW	6	113266302	missense	probably damaging	1.00
R8172:Mtmr14	UTSW	6	113239568	missense	probably benign
R9355:Mtmr14	UTSW	6	113237987	frame shift	probably null
X0023:Mtmr14	UTSW	6	113261255	missense	probably damaging	1.00

Posted On

2013-06-21