Mutagenetix > Incidental Mutation

Incidental Mutation 'R6752:Mtmr14'

530827

Institutional Source

Beutler Lab

Gene Symbol

Mtmr14

Ensembl Gene

ENSMUSG00000030269

Gene Name

myotubularin related protein 14

Synonyms

1110061O04Rik

MMRRC Submission

044869-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R6752 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113214804-113258353 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113217358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 90 (F90S)

Ref Sequence

ENSEMBL: ENSMUSP00000121136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113146] [ENSMUST00000129883] [ENSMUST00000142938] [ENSMUST00000156141]

AlphaFold

Q8VEL2

Predicted Effect

probably benign
Transcript: ENSMUST00000113146
AA Change: F90S

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108771
Gene: ENSMUSG00000030269
AA Change: F90S

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
AA Change: F90S

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114575
Gene: ENSMUSG00000030269
AA Change: F90S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000142938
AA Change: F90S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121136
Gene: ENSMUSG00000030269
AA Change: F90S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156141
AA Change: F50S

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (55/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,086,309 (GRCm39)	L45S	probably benign	Het
Agbl2	G	A	2: 90,633,418 (GRCm39)	C518Y	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Aox1	T	C	1: 58,086,398 (GRCm39)	I101T	probably benign	Het
Arhgap23	T	C	11: 97,343,074 (GRCm39)	F241S	probably damaging	Het
Asmt	A	G	X: 169,110,096 (GRCm39)	M202V	probably benign	Het
Atp6v0a2	A	G	5: 124,779,452 (GRCm39)	E189G	probably damaging	Het
Birc2	G	A	9: 7,857,345 (GRCm39)	A376V	probably benign	Het
Ccbe1	C	T	18: 66,209,378 (GRCm39)		probably null	Het
Chst2	C	A	9: 95,286,802 (GRCm39)	E515*	probably null	Het
Col12a1	A	T	9: 79,540,706 (GRCm39)	N2426K	possibly damaging	Het
Dmrt2	A	G	19: 25,655,706 (GRCm39)	N435S	probably damaging	Het
Dnah14	A	G	1: 181,421,017 (GRCm39)	K123E	probably benign	Het
Dock4	T	A	12: 40,870,616 (GRCm39)	L1452Q	probably damaging	Het
Galnt7	G	A	8: 58,105,985 (GRCm39)	R10C	probably damaging	Het
Gm16506	A	G	14: 43,964,876 (GRCm39)	I22T	unknown	Het
H2-Q6	A	G	17: 35,647,103 (GRCm39)	T292A	probably damaging	Het
Ifne	A	G	4: 88,798,319 (GRCm39)	M33T	probably benign	Het
Igf2r	G	A	17: 12,933,831 (GRCm39)	R808W	probably damaging	Het
Igfbp5	T	C	1: 72,903,068 (GRCm39)	E169G	probably damaging	Het
Inppl1	G	A	7: 101,481,749 (GRCm39)	R198*	probably null	Het
Irgm1	T	C	11: 48,757,290 (GRCm39)	T174A	probably damaging	Het
Itih3	C	T	14: 30,645,446 (GRCm39)	G21S	possibly damaging	Het
Klra4	G	T	6: 130,038,991 (GRCm39)	Q134K	probably benign	Het
Mfsd1	T	A	3: 67,503,936 (GRCm39)	Y309*	probably null	Het
Mrps10	A	G	17: 47,688,740 (GRCm39)	N162S	probably damaging	Het
Myh15	A	G	16: 49,003,290 (GRCm39)	D1783G	probably damaging	Het
Myo3b	A	G	2: 70,119,856 (GRCm39)	E972G	probably damaging	Het
Myt1	G	T	2: 181,442,875 (GRCm39)	V455F	probably damaging	Het
Nbea	A	T	3: 55,944,640 (GRCm39)	S575T	probably benign	Het
Nbea	T	A	3: 55,875,730 (GRCm39)	T1647S	probably benign	Het
Ntn4	A	G	10: 93,570,037 (GRCm39)	N466S	probably benign	Het
Or10ag52	A	G	2: 87,043,388 (GRCm39)	M51V	probably benign	Het
Or5b114-ps1	T	A	19: 13,352,890 (GRCm39)	L188H	unknown	Het
Or5h27	T	A	16: 59,006,694 (GRCm39)	N51Y	probably damaging	Het
Pcdhgb4	T	A	18: 37,853,704 (GRCm39)	I33N	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pom121l2	T	G	13: 22,165,939 (GRCm39)	F70C	probably damaging	Het
Psmb5	T	C	14: 54,854,212 (GRCm39)	T89A	probably benign	Het
Rab11fip2	T	C	19: 59,895,475 (GRCm39)	D471G	probably damaging	Het
Rnh1	A	G	7: 140,743,354 (GRCm39)	V207A	probably benign	Het
Sh3tc2	C	A	18: 62,094,108 (GRCm39)	T49N	probably benign	Het
Skint4	T	C	4: 111,977,060 (GRCm39)	M158T	possibly damaging	Het
Skint7	T	A	4: 111,837,463 (GRCm39)	H80Q	probably benign	Het
Smg1	A	G	7: 117,762,539 (GRCm39)		probably benign	Het
Sostdc1	T	C	12: 36,364,411 (GRCm39)	V40A	probably benign	Het
Sptlc1	C	A	13: 53,489,394 (GRCm39)	K437N	possibly damaging	Het
Stat2	T	C	10: 128,119,622 (GRCm39)	F503L	probably damaging	Het
Syt16	A	T	12: 74,275,987 (GRCm39)		probably null	Het
Tspyl1	T	C	10: 34,158,583 (GRCm39)	S103P	probably benign	Het
Ube4a	A	T	9: 44,837,246 (GRCm39)	S1053R	probably damaging	Het
Vipr1	A	G	9: 121,482,959 (GRCm39)	N58S	probably damaging	Het
Zfp184	C	A	13: 22,143,578 (GRCm39)	A428E	probably damaging	Het
Zfp292	A	C	4: 34,808,593 (GRCm39)	F1484V	possibly damaging	Het
Zfp599	G	A	9: 22,160,840 (GRCm39)	H442Y	probably damaging	Het
Zfp944	G	A	17: 22,558,500 (GRCm39)	T249I	probably benign	Het
Zkscan14	T	A	5: 145,132,316 (GRCm39)	H405L	probably damaging	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
R6182:Mtmr14	UTSW	6	113,246,469 (GRCm39)	missense	possibly damaging	0.78
R6658:Mtmr14	UTSW	6	113,242,437 (GRCm39)	nonsense	probably null
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'- CTCTTTGGATCATGGGCCAC -3'
(R):5'- CATCTGAAGCTGTACTACTTGGC -3'

Sequencing Primer
(F):5'- TGGATCATGGGCCACTTAAGCTC -3'
(R):5'- GAAGCTGTACTACTTGGCCAATC -3'

Posted On

2018-08-01