Mutagenetix > Incidental Mutation

Incidental Mutation 'R7512:Mtmr14'

582147

Institutional Source

Beutler Lab

Gene Symbol

Mtmr14

Ensembl Gene

ENSMUSG00000030269

Gene Name

myotubularin related protein 14

Synonyms

1110061O04Rik

MMRRC Submission

045585-MU

Accession Numbers

Essential gene?

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

Stock #

R7512 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113214804-113258353 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 113245652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 409 (Q409*)

Ref Sequence

ENSEMBL: ENSMUSP00000108771 (fasta)

Gene Model

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

AlphaFold

Q8VEL2

Predicted Effect

probably null
Transcript: ENSMUST00000113146
AA Change: Q409*

SMART Domains

Protein: ENSMUSP00000108771
Gene: ENSMUSG00000030269
AA Change: Q409*

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 null
Transcript: ENSMUST00000134945
AA Change: Q77*

SMART Domains

Protein: ENSMUSP00000118001
Gene: ENSMUSG00000030269
AA Change: Q77*

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

Predicted Effect

probably null
Transcript: ENSMUST00000137772
AA Change: Q122*

SMART Domains

Protein: ENSMUSP00000119000
Gene: ENSMUSG00000030269
AA Change: Q122*

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 null
Transcript: ENSMUST00000148523
AA Change: Q87*

SMART Domains

Protein: ENSMUSP00000115808
Gene: ENSMUSG00000030269
AA Change: Q87*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	T	11: 109,829,275 (GRCm39)	A1395T	probably benign	Het
Ank3	A	G	10: 69,826,691 (GRCm39)	K1787E		Het
Atg2a	C	T	19: 6,310,106 (GRCm39)	A1763V	probably damaging	Het
Bdp1	T	C	13: 100,187,457 (GRCm39)	I1637V	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camsap3	A	G	8: 3,648,740 (GRCm39)	T20A	probably benign	Het
Ccnt2	T	A	1: 127,730,031 (GRCm39)	S303T	possibly damaging	Het
Cdh3	C	T	8: 107,265,640 (GRCm39)	Q228*	probably null	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Dock2	A	C	11: 34,262,542 (GRCm39)	C938G	possibly damaging	Het
Dync1i1	G	T	6: 5,969,410 (GRCm39)	V412L	possibly damaging	Het
Eif1ad6	G	T	12: 87,668,751 (GRCm39)	E128*	probably null	Het
Entrep2	C	T	7: 64,805,918 (GRCm39)	A52T	probably benign	Het
Fam185a	G	A	5: 21,652,356 (GRCm39)		probably null	Het
Fcho1	A	G	8: 72,169,507 (GRCm39)	L133P	possibly damaging	Het
Galnt12	G	A	4: 47,108,406 (GRCm39)	R181H	possibly damaging	Het
Gen1	A	G	12: 11,310,977 (GRCm39)	V85A	possibly damaging	Het
Gm12185	A	T	11: 48,806,717 (GRCm39)	I158K	probably benign	Het
Gm5624	T	C	14: 44,799,312 (GRCm39)	R82G		Het
Grap2	A	C	15: 80,532,754 (GRCm39)	N307T	probably benign	Het
H6pd	A	G	4: 150,080,405 (GRCm39)	F147L	probably benign	Het
Haspin	A	T	11: 73,027,418 (GRCm39)	I557N	probably damaging	Het
Hectd4	A	T	5: 121,435,172 (GRCm39)	K961N	possibly damaging	Het
Helz2	A	G	2: 180,872,647 (GRCm39)	M2495T	probably benign	Het
Helz2	A	T	2: 180,877,393 (GRCm39)		probably null	Het
Impdh1	T	C	6: 29,207,168 (GRCm39)	I59V	probably benign	Het
Kcnn1	A	T	8: 71,307,293 (GRCm39)	L200Q	possibly damaging	Het
Kif5c	T	A	2: 49,590,977 (GRCm39)	H276Q	probably damaging	Het
Kntc1	T	C	5: 123,929,001 (GRCm39)	L1259P	probably damaging	Het
Krtap4-1	A	T	11: 99,518,859 (GRCm39)	C50*	probably null	Het
Lat2	T	A	5: 134,634,798 (GRCm39)	D114V	probably damaging	Het
Lrrc41	A	G	4: 115,950,191 (GRCm39)	T535A	possibly damaging	Het
Ly75	A	T	2: 60,164,907 (GRCm39)	V757D	probably damaging	Het
Masp1	C	A	16: 23,288,874 (GRCm39)	R642L	probably damaging	Het
Morn3	A	G	5: 123,175,343 (GRCm39)		probably null	Het
Mpl	A	T	4: 118,306,089 (GRCm39)	I384N		Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Oit3	T	C	10: 59,274,716 (GRCm39)	Y28C	probably damaging	Het
Or2z8	T	A	8: 72,812,367 (GRCm39)	I281N	probably damaging	Het
Or4x12-ps1	A	G	2: 89,916,040 (GRCm39)	I255T	possibly damaging	Het
Or5ac22	T	A	16: 59,135,390 (GRCm39)	N127Y	probably damaging	Het
Pcdh15	T	C	10: 74,477,214 (GRCm39)	Y186H	possibly damaging	Het
Pcdhgb1	T	A	18: 37,815,418 (GRCm39)	D636E	probably damaging	Het
Pdgfra	A	T	5: 75,355,675 (GRCm39)	R1062*	probably null	Het
Pds5b	T	C	5: 150,711,807 (GRCm39)	F922L	probably damaging	Het
Pip5k1c	G	A	10: 81,150,953 (GRCm39)		probably null	Het
Ppp2r3d	T	C	9: 101,052,532 (GRCm39)	T226A	possibly damaging	Het
Ptprh	G	A	7: 4,574,780 (GRCm39)	T413I	possibly damaging	Het
Rora	C	A	9: 69,281,367 (GRCm39)	D382E	probably benign	Het
Sacs	T	A	14: 61,441,879 (GRCm39)	N1308K	probably benign	Het
Sgce	C	T	6: 4,707,192 (GRCm39)	D218N	possibly damaging	Het
Slc34a3	A	T	2: 25,122,253 (GRCm39)		probably null	Het
Slit1	T	C	19: 41,589,074 (GRCm39)	Y1471C	probably damaging	Het
Smarca2	G	T	19: 26,661,209 (GRCm39)	V935L	possibly damaging	Het
Smchd1	T	C	17: 71,688,364 (GRCm39)	N1298S	possibly damaging	Het
Sort1	T	A	3: 108,233,323 (GRCm39)		probably null	Het
Spata13	T	C	14: 60,989,226 (GRCm39)	L964P	probably damaging	Het
Spata31h1	G	A	10: 82,128,469 (GRCm39)	L1514F	probably benign	Het
Trav7-6	C	A	14: 53,954,552 (GRCm39)	D47E	probably benign	Het
Ubap2l	A	G	3: 89,917,803 (GRCm39)	F864L	unknown	Het
Vmn2r102	C	T	17: 19,914,363 (GRCm39)	P643S	probably damaging	Het
Zfp112	T	A	7: 23,824,604 (GRCm39)	C195S	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
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
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'- TCTAGCAGGGTTCACAAAGAAG -3'
(R):5'- ACAAGGAACGGCAAGTCCTC -3'

Sequencing Primer
(F):5'- GGGTTCACAAAGAAGGTCATTCCC -3'
(R):5'- AAGTCCTCCCGTCCACAGG -3'

Posted On

2019-10-17