Mutagenetix > Incidental Mutation

Incidental Mutation 'R1998:Mtmr14'

224538

Institutional Source

Beutler Lab

Gene Symbol

Mtmr14

Ensembl Gene

ENSMUSG00000030269

Gene Name

myotubularin related protein 14

Synonyms

1110061O04Rik

MMRRC Submission

040008-MU

Accession Numbers

Essential gene?

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

Stock #

R1998 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113214804-113258353 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113254885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 294 (D294G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041203] [ENSMUST00000113146] [ENSMUST00000129883] [ENSMUST00000130191] [ENSMUST00000134945]

AlphaFold

Q8VEL2

Predicted Effect

probably benign
Transcript: ENSMUST00000041203

SMART Domains

Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270

Domain	Start	End	E-Value	Type
C2	14	122	2.12e-10	SMART
C2	143	257	5.15e-9	SMART
VWA	297	495	4.4e-10	SMART
low complexity region	536	553	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113146
AA Change: D581G

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108771
Gene: ENSMUSG00000030269
AA Change: D581G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124574

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128148

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 benign
Transcript: ENSMUST00000130191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132372

Predicted Effect

probably null
Transcript: ENSMUST00000137772
AA Change: D294G

SMART Domains

Protein: ENSMUSP00000119000
Gene: ENSMUSG00000030269
AA Change: D294G

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

Predicted Effect

silent
Transcript: ENSMUST00000151149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204050

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: ENSMUST00000134945

SMART Domains

Protein: ENSMUSP00000118001
Gene: ENSMUSG00000030269

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	G	5: 88,118,553 (GRCm39)	N12K	probably damaging	Het
2700049A03Rik	T	A	12: 71,235,393 (GRCm39)	S1114R	possibly damaging	Het
Acot1	T	A	12: 84,056,527 (GRCm39)	W82R	probably damaging	Het
Adam22	T	C	5: 8,379,995 (GRCm39)	D101G	probably damaging	Het
Adcy9	T	C	16: 4,115,276 (GRCm39)	D705G	probably benign	Het
Adgrg3	T	G	8: 95,763,296 (GRCm39)	L244V	probably damaging	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
Brinp1	C	T	4: 68,680,790 (GRCm39)	G580E	probably damaging	Het
Brwd1	G	A	16: 95,822,488 (GRCm39)	T1239M	probably damaging	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Camta1	T	C	4: 151,162,337 (GRCm39)	Y1560C	probably damaging	Het
Cbfa2t2	T	A	2: 154,346,709 (GRCm39)	L139M	probably damaging	Het
Cd226	T	C	18: 89,225,343 (GRCm39)	V80A	probably damaging	Het
Dgka	C	T	10: 128,565,808 (GRCm39)	V367I	probably benign	Het
Dnajb13	A	T	7: 100,153,817 (GRCm39)	I206N	probably benign	Het
Dst	A	T	1: 34,295,428 (GRCm39)	Q5693L	probably damaging	Het
Ear6	T	A	14: 52,091,672 (GRCm39)	I73N	probably benign	Het
Egr1	A	G	18: 34,994,587 (GRCm39)	I16V	probably benign	Het
Eif2s1	T	A	12: 78,913,508 (GRCm39)	C70S	possibly damaging	Het
Epcam	T	C	17: 87,947,902 (GRCm39)	V124A	probably damaging	Het
Erbb2	T	A	11: 98,319,779 (GRCm39)	C624S	probably damaging	Het
Fam135b	T	A	15: 71,324,253 (GRCm39)	H1238L	probably damaging	Het
Fam90a1a	A	G	8: 22,453,713 (GRCm39)	D356G	probably benign	Het
Fbrsl1	G	A	5: 110,524,305 (GRCm39)	S127L	probably benign	Het
Fndc3c1	C	T	X: 105,464,311 (GRCm39)	E1276K	probably benign	Het
Gbe1	A	T	16: 70,365,929 (GRCm39)	N702I	probably damaging	Het
Gm10643	A	T	8: 84,791,053 (GRCm39)	C20*	probably null	Het
Gpr156	A	G	16: 37,818,270 (GRCm39)	N322S	possibly damaging	Het
Gsdma	T	A	11: 98,564,520 (GRCm39)	I333N	probably damaging	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Htr5a	G	A	5: 28,055,887 (GRCm39)	V293M	possibly damaging	Het
Hyal4	A	G	6: 24,756,310 (GRCm39)	E176G	probably benign	Het
Iqca1l	G	A	5: 24,750,004 (GRCm39)	R680C	probably benign	Het
Jag1	T	C	2: 136,932,858 (GRCm39)	D546G	probably damaging	Het
Kbtbd3	A	G	9: 4,330,760 (GRCm39)	E378G	probably benign	Het
Lipo4	A	G	19: 33,491,701 (GRCm39)	V94A	probably damaging	Het
Magea10	A	T	X: 71,426,379 (GRCm39)	I205K	probably benign	Het
Manea	A	G	4: 26,327,871 (GRCm39)	L390P	probably damaging	Het
Mars1	T	A	10: 127,136,347 (GRCm39)	K493*	probably null	Het
Mars1	T	C	10: 127,138,740 (GRCm39)	I439V	probably benign	Het
Mboat2	A	G	12: 24,996,672 (GRCm39)	D225G	possibly damaging	Het
Mcmbp	T	A	7: 128,310,887 (GRCm39)	E350V	probably damaging	Het
Mki67	A	G	7: 135,307,499 (GRCm39)	M459T	probably benign	Het
Mlf1	G	A	3: 67,302,624 (GRCm39)	G150R	probably damaging	Het
Nlrp4e	A	C	7: 23,020,671 (GRCm39)	Y386S	probably benign	Het
Nomo1	A	G	7: 45,683,368 (GRCm39)	D38G	possibly damaging	Het
Nudcd2	T	C	11: 40,624,844 (GRCm39)	W18R	probably damaging	Het
Or11g26	T	A	14: 50,752,813 (GRCm39)	C51S	probably benign	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or52e4	G	T	7: 104,706,112 (GRCm39)	V220L	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or5w16	T	C	2: 87,577,316 (GRCm39)	Y259H	probably damaging	Het
Pcnx2	A	T	8: 126,613,882 (GRCm39)	V523D	probably damaging	Het
Pkd1	T	C	17: 24,791,988 (GRCm39)	V1225A	probably damaging	Het
Plekhh2	T	A	17: 84,914,305 (GRCm39)	L1236Q	possibly damaging	Het
Ppp2r1b	A	G	9: 50,794,885 (GRCm39)	D570G	probably damaging	Het
Prrc2c	T	A	1: 162,532,487 (GRCm39)		probably benign	Het
Rai14	C	T	15: 10,595,067 (GRCm39)		probably null	Het
Rap1gap2	A	G	11: 74,286,659 (GRCm39)	L547P	probably benign	Het
Rims3	A	T	4: 120,748,555 (GRCm39)	M259L	probably benign	Het
Rsbn1l	G	A	5: 21,107,368 (GRCm39)	H549Y	probably damaging	Het
Sart3	A	C	5: 113,885,982 (GRCm39)		probably null	Het
Scn7a	C	A	2: 66,513,613 (GRCm39)	G1156C	probably damaging	Het
Sh3rf2	T	A	18: 42,274,148 (GRCm39)	V406D	probably damaging	Het
Slitrk6	T	C	14: 110,989,255 (GRCm39)	I151V	probably damaging	Het
Smarca2	A	T	19: 26,608,493 (GRCm39)	Q260L	probably benign	Het
Smco1	A	G	16: 32,092,658 (GRCm39)	R110G	probably damaging	Het
Spef2	T	A	15: 9,668,989 (GRCm39)		probably null	Het
Stab1	T	A	14: 30,884,110 (GRCm39)	K219*	probably null	Het
Sulf1	G	T	1: 12,929,058 (GRCm39)	E869*	probably null	Het
Susd1	T	C	4: 59,349,925 (GRCm39)	I504V	probably benign	Het
Szt2	A	G	4: 118,232,924 (GRCm39)		probably null	Het
Tas1r3	A	T	4: 155,947,377 (GRCm39)	C103S	probably damaging	Het
Thg1l	C	A	11: 45,841,030 (GRCm39)	W243L	possibly damaging	Het
Tlr4	A	T	4: 66,758,707 (GRCm39)	D500V	probably damaging	Het
Tmem72	A	G	6: 116,693,525 (GRCm39)	V5A	probably benign	Het
Tns4	T	G	11: 98,976,529 (GRCm39)	M131L	probably benign	Het
Trim66	C	T	7: 109,083,784 (GRCm39)		probably null	Het
Ttll6	T	A	11: 96,030,601 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ubqln5	T	A	7: 103,777,948 (GRCm39)	Q292L	probably damaging	Het
Vmn1r74	G	T	7: 11,581,302 (GRCm39)	V201F	probably damaging	Het
Vmn2r28	G	T	7: 5,491,313 (GRCm39)	D311E	possibly damaging	Het
Vtn	T	A	11: 78,390,542 (GRCm39)	V67E	probably damaging	Het
Xirp2	T	A	2: 67,339,393 (GRCm39)	F545I	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
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'- CATAGGCCATTGTGTTGCCC -3'
(R):5'- GATCCATAGGCTGCAGACAAATG -3'

Sequencing Primer
(F):5'- AGGTACTCCTGTCAGGCATATG -3'
(R):5'- CTGCAGACAAATGGGGGAG -3'

Posted On

2014-08-25