Mutagenetix > Incidental Mutation

Incidental Mutation 'R0675:Mtmr14'

61604

Institutional Source

Beutler Lab

Gene Symbol

Mtmr14

Ensembl Gene

ENSMUSG00000030269

Gene Name

myotubularin related protein 14

Synonyms

1110061O04Rik

MMRRC Submission

038860-MU

Accession Numbers

Essential gene?

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

Stock #

R0675 (G1)

Quality Score

129

Status

Validated

Chromosome

Chromosomal Location

113214804-113258353 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113247608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 518 (H518L)

Ref Sequence

ENSEMBL: ENSMUSP00000108771 (fasta)

Gene Model

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

AlphaFold

Q8VEL2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113146
AA Change: H518L

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

SMART Domains

Protein: ENSMUSP00000108771
Gene: ENSMUSG00000030269
AA Change: H518L

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: H186L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118001
Gene: ENSMUSG00000030269
AA Change: H186L

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: H231L

SMART Domains

Protein: ENSMUSP00000119000
Gene: ENSMUSG00000030269
AA Change: H231L

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

unknown
Transcript: ENSMUST00000151149
AA Change: H92L

Predicted Effect

probably benign
Transcript: ENSMUST00000203385

Meta Mutation Damage Score

0.1019

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (88/91)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 36,024,124 (GRCm39)		probably benign	Het
Aire	T	C	10: 77,870,327 (GRCm39)		probably benign	Het
Akap12	T	C	10: 4,303,315 (GRCm39)	S42P	probably benign	Het
Amigo1	T	C	3: 108,098,985 (GRCm39)		probably benign	Het
Angptl3	A	G	4: 98,921,499 (GRCm39)	T206A	probably benign	Het
Ank1	T	A	8: 23,600,400 (GRCm39)		probably benign	Het
Ano5	A	T	7: 51,224,558 (GRCm39)	T472S	probably damaging	Het
Arid3c	T	C	4: 41,725,958 (GRCm39)	D215G	probably damaging	Het
Cd200	T	C	16: 45,217,473 (GRCm39)	I73V	probably benign	Het
Cd47	T	C	16: 49,727,162 (GRCm39)	I318T	possibly damaging	Het
Cep290	A	G	10: 100,404,675 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,835,499 (GRCm39)	S66P	possibly damaging	Het
Cfap46	C	T	7: 139,255,950 (GRCm39)	C300Y	probably damaging	Het
Chd1	T	A	17: 15,978,523 (GRCm39)		probably benign	Het
Chd5	C	A	4: 152,470,407 (GRCm39)	T1913K	probably benign	Het
Cimip3	T	C	17: 47,724,701 (GRCm39)	E140G	probably benign	Het
Clec4b1	A	G	6: 123,048,405 (GRCm39)	Y180C	probably damaging	Het
Cntnap5c	A	T	17: 58,341,990 (GRCm39)	D227V	probably damaging	Het
Col19a1	C	G	1: 24,614,536 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,208,145 (GRCm39)	M1270K	probably benign	Het
Cyp2c66	T	A	19: 39,175,060 (GRCm39)	F487I	possibly damaging	Het
Dpp8	T	C	9: 64,973,784 (GRCm39)		probably benign	Het
Duoxa1	A	T	2: 122,136,861 (GRCm39)		probably benign	Het
Edil3	A	G	13: 89,325,399 (GRCm39)	K263E	probably damaging	Het
Fat2	A	G	11: 55,200,035 (GRCm39)	L1013P	probably damaging	Het
Fras1	T	C	5: 96,815,246 (GRCm39)		probably benign	Het
Gab1	A	G	8: 81,496,297 (GRCm39)	S668P	probably damaging	Het
Galnt14	T	C	17: 73,852,030 (GRCm39)	T130A	probably damaging	Het
Gm10192	G	A	4: 97,071,109 (GRCm39)	H99Y	unknown	Het
Gm5592	A	G	7: 40,938,811 (GRCm39)	T698A	possibly damaging	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Gsdma3	A	G	11: 98,522,017 (GRCm39)	K149R	probably benign	Het
Igkv4-71	A	G	6: 69,220,411 (GRCm39)	S29P	probably damaging	Het
Igsf10	C	T	3: 59,236,015 (GRCm39)	V1389I	probably benign	Het
Ik	T	C	18: 36,880,386 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,962 (GRCm39)	P1203S	probably damaging	Het
Iqsec2	G	A	X: 150,987,120 (GRCm39)	E398K	possibly damaging	Het
Jmjd6	A	G	11: 116,731,353 (GRCm39)	V232A	probably damaging	Het
Klhdc9	G	A	1: 171,187,895 (GRCm39)	T112M	possibly damaging	Het
Marcks	A	G	10: 37,017,181 (GRCm39)		probably benign	Het
Mctp2	T	A	7: 71,732,918 (GRCm39)	T829S	probably damaging	Het
Mroh2a	C	A	1: 88,156,102 (GRCm39)	A78E	probably damaging	Het
Mroh2a	G	A	1: 88,178,064 (GRCm39)	D1053N	probably damaging	Het
Myo5c	T	C	9: 75,185,571 (GRCm39)	M978T	probably benign	Het
Nlrc3	T	C	16: 3,766,775 (GRCm39)	I1015V	probably benign	Het
Nlrp5	C	A	7: 23,116,842 (GRCm39)	Q189K	possibly damaging	Het
Or1e26	A	C	11: 73,480,078 (GRCm39)	L162R	probably damaging	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or51f1d	A	G	7: 102,700,909 (GRCm39)	I135V	probably benign	Het
Or8k35	T	C	2: 86,424,423 (GRCm39)	I250V	probably benign	Het
Otof	T	A	5: 30,539,705 (GRCm39)	Y1051F	probably benign	Het
Pcdhb14	C	A	18: 37,581,392 (GRCm39)	T166K	possibly damaging	Het
Pla2g4e	A	G	2: 120,030,679 (GRCm39)		probably benign	Het
Polr3gl	T	C	3: 96,489,471 (GRCm39)	E20G	probably damaging	Het
Psmd1	A	G	1: 86,009,761 (GRCm39)	D295G	probably benign	Het
Ptpn21	C	A	12: 98,654,475 (GRCm39)	A831S	probably benign	Het
Pwwp3a	T	A	10: 80,065,914 (GRCm39)	V56E	probably damaging	Het
Rd3l	T	C	12: 111,946,596 (GRCm39)	D60G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,332,660 (GRCm39)	D2624G	probably benign	Het
Sec31a	T	C	5: 100,541,066 (GRCm39)	D347G	probably damaging	Het
Sema4g	G	A	19: 44,986,026 (GRCm39)	R289H	probably damaging	Het
Sema5b	C	T	16: 35,480,703 (GRCm39)	T761I	probably benign	Het
Septin1	A	T	7: 126,816,171 (GRCm39)	F86L	probably damaging	Het
Shank3	T	C	15: 89,415,591 (GRCm39)	V627A	possibly damaging	Het
Slc25a46	C	A	18: 31,742,641 (GRCm39)	G75V	probably benign	Het
Slc45a2	T	A	15: 11,025,864 (GRCm39)	Y405N	probably damaging	Het
Spidr	T	C	16: 15,855,498 (GRCm39)	E339G	probably damaging	Het
Sptbn1	A	T	11: 30,067,903 (GRCm39)	H1770Q	probably damaging	Het
Srgap1	T	C	10: 121,628,140 (GRCm39)	Y944C	probably damaging	Het
Supt20	C	T	3: 54,614,390 (GRCm39)	T169I	probably damaging	Het
Tie1	G	A	4: 118,336,966 (GRCm39)	Q587*	probably null	Het
Tmem214	A	G	5: 31,029,169 (GRCm39)	T203A	possibly damaging	Het
Tmprss15	C	A	16: 78,782,838 (GRCm39)	S742I	probably damaging	Het
Wdr87-ps	T	C	7: 29,231,942 (GRCm39)		noncoding transcript	Het
Zfhx2	A	G	14: 55,300,620 (GRCm39)	V2377A	probably damaging	Het
Zfp763	G	A	17: 33,238,774 (GRCm39)	H124Y	possibly damaging	Het
Zfp846	T	C	9: 20,504,853 (GRCm39)	S238P	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
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
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'- AGCTGTGACAGCCTTGCTCTTC -3'
(R):5'- TCTGTGCTCCAACAGCAATCAATCC -3'

Sequencing Primer
(F):5'- CTTCTGCCACAGGAGGAAGAG -3'
(R):5'- TCAATCCTTCAAAGAGTGGGTG -3'

Posted On

2013-07-30