Mutagenetix > Incidental Mutation

Incidental Mutation 'R6182:Mtmr14'

487024

Institutional Source

Beutler Lab

Gene Symbol

Mtmr14

Ensembl Gene

ENSMUSG00000030269

Gene Name

myotubularin related protein 14

Synonyms

1110061O04Rik

MMRRC Submission

044324-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R6182 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113214804-113258353 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113246469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 81 (S81G)

Ref Sequence

ENSEMBL: ENSMUSP00000118001 (fasta)

Gene Model

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

AlphaFold

Q8VEL2

Predicted Effect

probably benign
Transcript: ENSMUST00000113146
AA Change: S413G

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108771
Gene: ENSMUSG00000030269
AA Change: S413G

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

possibly damaging
Transcript: ENSMUST00000134945
AA Change: S81G

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118001
Gene: ENSMUSG00000030269
AA Change: S81G

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: S126G

SMART Domains

Protein: ENSMUSP00000119000
Gene: ENSMUSG00000030269
AA Change: S126G

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

probably benign
Transcript: ENSMUST00000148523

SMART Domains

Protein: ENSMUSP00000115808
Gene: ENSMUSG00000030269

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203385

Predicted Effect

probably benign
Transcript: ENSMUST00000151149

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	T	C	9: 90,074,489 (GRCm39)	S884P	probably benign	Het
Akap13	C	A	7: 75,236,028 (GRCm39)	A201E	probably benign	Het
Ces1f	T	G	8: 93,983,124 (GRCm39)	E540A	probably benign	Het
Chid1	T	A	7: 141,108,415 (GRCm39)	M137L	probably benign	Het
Chsy3	A	G	18: 59,312,414 (GRCm39)	T296A	probably benign	Het
Clec4f	A	G	6: 83,622,284 (GRCm39)	V519A	probably benign	Het
Clk4	T	A	11: 51,159,009 (GRCm39)	F41I	possibly damaging	Het
Cntnap5c	A	G	17: 58,183,390 (GRCm39)	D32G	probably benign	Het
Ctsl	T	C	13: 64,515,786 (GRCm39)	Y95C	probably damaging	Het
Cyp2c54	T	C	19: 40,036,005 (GRCm39)	M302V	probably benign	Het
Cyp2c65	C	G	19: 39,049,606 (GRCm39)	L45V	probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Daam1	C	T	12: 72,006,661 (GRCm39)	Q693*	probably null	Het
Dgcr8	A	T	16: 18,098,172 (GRCm39)	D406E	probably benign	Het
Dock2	G	T	11: 34,179,476 (GRCm39)	P1760Q	probably damaging	Het
Epb41l2	G	A	10: 25,383,715 (GRCm39)	R940H	probably damaging	Het
Erc2	A	C	14: 28,039,210 (GRCm39)	D951A	probably damaging	Het
Fbxw7	T	C	3: 84,723,078 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,555,390 (GRCm39)	I1716F	probably damaging	Het
Fus	A	G	7: 127,576,465 (GRCm39)	D295G	probably damaging	Het
Gm5093	A	G	17: 46,750,568 (GRCm39)	I153T	probably benign	Het
Gnptab	T	C	10: 88,265,342 (GRCm39)	V318A	possibly damaging	Het
Gpc2	T	C	5: 138,276,676 (GRCm39)	D150G	probably benign	Het
Gsc2	A	G	16: 17,731,483 (GRCm39)	*215R	probably null	Het
Hectd3	T	C	4: 116,857,476 (GRCm39)	S552P	probably damaging	Het
Katnal1	C	A	5: 148,841,407 (GRCm39)	K152N	possibly damaging	Het
Kcnh1	A	T	1: 191,873,361 (GRCm39)	T16S	probably damaging	Het
Lrrc71	T	C	3: 87,653,101 (GRCm39)	D105G	probably benign	Het
Mon2	T	C	10: 122,874,564 (GRCm39)		probably null	Het
Mroh9	G	A	1: 162,893,612 (GRCm39)	Q188*	probably null	Het
Nrap	T	A	19: 56,350,130 (GRCm39)	M628L	probably benign	Het
Odad3	A	G	9: 21,901,698 (GRCm39)	F553S	probably damaging	Het
Or1o1	T	A	17: 37,716,883 (GRCm39)	I148K	possibly damaging	Het
Or5k1	A	G	16: 58,617,655 (GRCm39)	Y185H	probably damaging	Het
Pals2	A	G	6: 50,175,206 (GRCm39)	I506V	probably benign	Het
Pate4	A	T	9: 35,519,586 (GRCm39)	S35T	possibly damaging	Het
Pkd1l1	T	C	11: 8,815,555 (GRCm39)	E1452G	probably benign	Het
Pld5	T	C	1: 175,872,420 (GRCm39)	D239G	probably benign	Het
Ppef2	C	T	5: 92,374,925 (GRCm39)	V728M	probably damaging	Het
Rasip1	TGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGC	7: 45,277,879 (GRCm39)		probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Serpina3c	C	A	12: 104,115,690 (GRCm39)	V285L	probably benign	Het
Serpinb9f	T	C	13: 33,518,405 (GRCm39)	S302P	probably damaging	Het
Sis	C	T	3: 72,811,626 (GRCm39)	V1642I	probably benign	Het
Slc12a4	G	A	8: 106,674,531 (GRCm39)	L601F	probably damaging	Het
Slc39a6	G	T	18: 24,734,013 (GRCm39)	N225K	probably benign	Het
Snrnp70	G	A	7: 45,026,497 (GRCm39)	R291*	probably null	Het
Spin1	C	T	13: 51,298,374 (GRCm39)	T131I	probably benign	Het
St18	T	G	1: 6,914,342 (GRCm39)		probably null	Het
Stox1	A	G	10: 62,500,721 (GRCm39)	L613P	probably damaging	Het
Tgm3	T	G	2: 129,867,221 (GRCm39)	Y155*	probably null	Het
Tmem67	T	C	4: 12,051,402 (GRCm39)	I809V	probably benign	Het
Tnc	T	A	4: 63,927,033 (GRCm39)	D831V	probably damaging	Het
Ttll13	A	T	7: 79,909,981 (GRCm39)	E762D	probably benign	Het
Unc5b	A	T	10: 60,601,015 (GRCm39)	V937E	probably damaging	Het
Vmn1r34	A	G	6: 66,614,312 (GRCm39)	I142T	probably damaging	Het
Vmn2r104	A	G	17: 20,250,507 (GRCm39)	M588T	probably benign	Het
Vmn2r77	T	C	7: 86,460,957 (GRCm39)	V761A	probably damaging	Het
Wdr48	G	T	9: 119,753,832 (GRCm39)	G665W	probably damaging	Het
Xpot	T	A	10: 121,442,163 (GRCm39)	R550S	probably damaging	Het
Ydjc	A	G	16: 16,964,943 (GRCm39)	T33A	probably benign	Het
Zfc3h1	A	G	10: 115,226,764 (GRCm39)	T274A	probably benign	Het
Zfp202	G	A	9: 40,118,638 (GRCm39)	G17E	probably damaging	Het
Zfp788	T	A	7: 41,299,940 (GRCm39)	C859S	probably damaging	Het
Zscan4c	T	C	7: 10,740,709 (GRCm39)	M76T	probably benign	Het

Other mutations in Mtmr14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Mtmr14	APN	6	113,243,287 (GRCm39)	missense	probably damaging	0.98
IGL01686:Mtmr14	APN	6	113,217,391 (GRCm39)	missense	possibly damaging	0.58
IGL02508:Mtmr14	APN	6	113,217,267 (GRCm39)	missense	probably damaging	1.00
R0147:Mtmr14	UTSW	6	113,237,627 (GRCm39)	splice site	probably benign
R0394:Mtmr14	UTSW	6	113,257,649 (GRCm39)	nonsense	probably null
R0529:Mtmr14	UTSW	6	113,243,213 (GRCm39)	unclassified	probably benign
R0675:Mtmr14	UTSW	6	113,247,608 (GRCm39)	missense	probably damaging	0.99
R0723:Mtmr14	UTSW	6	113,247,473 (GRCm39)	unclassified	probably benign
R0785:Mtmr14	UTSW	6	113,254,908 (GRCm39)	critical splice donor site	probably null
R0866:Mtmr14	UTSW	6	113,216,543 (GRCm39)	critical splice donor site	probably null
R1721:Mtmr14	UTSW	6	113,230,693 (GRCm39)	missense	probably damaging	1.00
R1998:Mtmr14	UTSW	6	113,254,885 (GRCm39)	missense	probably null
R2063:Mtmr14	UTSW	6	113,217,322 (GRCm39)	missense	probably damaging	1.00
R2192:Mtmr14	UTSW	6	113,257,700 (GRCm39)	missense	probably damaging	1.00
R2656:Mtmr14	UTSW	6	113,217,327 (GRCm39)	missense	probably benign	0.03
R4648:Mtmr14	UTSW	6	113,237,567 (GRCm39)	missense	probably benign	0.12
R5209:Mtmr14	UTSW	6	113,230,736 (GRCm39)	nonsense	probably null
R5509:Mtmr14	UTSW	6	113,230,768 (GRCm39)	critical splice donor site	probably null
R5569:Mtmr14	UTSW	6	113,217,246 (GRCm39)	missense	probably damaging	0.96
R5589:Mtmr14	UTSW	6	113,238,243 (GRCm39)	critical splice donor site	probably null
R5924:Mtmr14	UTSW	6	113,230,750 (GRCm39)	missense	probably damaging	1.00
R5997:Mtmr14	UTSW	6	113,257,575 (GRCm39)	missense	probably damaging	0.97
R6658:Mtmr14	UTSW	6	113,242,437 (GRCm39)	nonsense	probably null
R6752:Mtmr14	UTSW	6	113,217,358 (GRCm39)	missense	probably damaging	1.00
R7325:Mtmr14	UTSW	6	113,246,509 (GRCm39)	missense	probably damaging	0.98
R7512:Mtmr14	UTSW	6	113,245,652 (GRCm39)	nonsense	probably null
R7816:Mtmr14	UTSW	6	113,243,263 (GRCm39)	missense	probably damaging	1.00
R8172:Mtmr14	UTSW	6	113,216,529 (GRCm39)	missense	probably benign
R9355:Mtmr14	UTSW	6	113,214,948 (GRCm39)	frame shift	probably null
X0023:Mtmr14	UTSW	6	113,238,216 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAAACTGGTAGATCCTGG -3'
(R):5'- GCAGCAGAAAGTCAGCATGC -3'

Sequencing Primer
(F):5'- TAGATCCTGGAAGTGGGCC -3'
(R):5'- GCAGAAAGTCAGCATGCTACCTTC -3'

Posted On

2017-10-10