Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03347:Mtmr9'

419533

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtmr9

Ensembl Gene

ENSMUSG00000035078

Gene Name

myotubularin related protein 9

Synonyms

MTMR8, 9430075G12Rik, LIP-STYX, mMTMH3

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.468) question?

Stock #

IGL03347

Quality Score

Status

Chromosome

Chromosomal Location

63757100-63781402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63781016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 25 (V25L)

Ref Sequence

ENSEMBL: ENSMUSP00000059894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058679]

AlphaFold

Q9Z2D0

Predicted Effect

probably benign
Transcript: ENSMUST00000058679
AA Change: V25L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000059894
Gene: ENSMUSG00000035078
AA Change: V25L

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	108	446	2.2e-133	PFAM

Coding Region Coverage

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 that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	T	A	9: 30,870,534 (GRCm39)	S670T	possibly damaging	Het
Adamts9	G	T	6: 92,864,413 (GRCm39)	Y185*	probably null	Het
Ahcyl	A	G	16: 45,974,852 (GRCm39)	V175A	probably benign	Het
Arid3a	T	A	10: 79,787,113 (GRCm39)	S512R	possibly damaging	Het
Atf6b	T	C	17: 34,872,214 (GRCm39)	V524A	probably damaging	Het
Camk2d	A	G	3: 126,590,550 (GRCm39)	T254A	probably damaging	Het
Camsap2	G	T	1: 136,208,724 (GRCm39)	Q923K	possibly damaging	Het
Car10	G	A	11: 92,991,122 (GRCm39)		probably benign	Het
Ccdc39	A	G	3: 33,891,992 (GRCm39)	L160P	probably damaging	Het
Cdh20	A	T	1: 110,065,973 (GRCm39)	D749V	possibly damaging	Het
Cox6a2	A	T	7: 127,804,900 (GRCm39)		probably benign	Het
Cpne1	A	T	2: 155,921,096 (GRCm39)	Y65N	probably damaging	Het
Dnm1	T	C	2: 32,243,199 (GRCm39)	D8G	probably benign	Het
Emsy	A	G	7: 98,259,892 (GRCm39)	S140P	probably damaging	Het
Fam13b	G	A	18: 34,595,104 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,146,737 (GRCm39)	R2720G	probably damaging	Het
Fkbpl	A	G	17: 34,865,287 (GRCm39)		probably benign	Het
Gpr179	A	G	11: 97,242,664 (GRCm39)	L60P	probably damaging	Het
Iftap	A	G	2: 101,413,864 (GRCm39)		probably null	Het
Igsf10	A	T	3: 59,239,321 (GRCm39)	S287T	possibly damaging	Het
Kat2b	G	A	17: 53,931,379 (GRCm39)		probably null	Het
Kazald1	A	G	19: 45,066,855 (GRCm39)	D218G	possibly damaging	Het
Mbtd1	A	G	11: 93,814,005 (GRCm39)	E216G	probably benign	Het
Myo16	A	G	8: 10,426,120 (GRCm39)		probably null	Het
Nfkbil1	A	T	17: 35,439,559 (GRCm39)	V318E	probably damaging	Het
Or2ag15	A	T	7: 106,340,177 (GRCm39)		probably benign	Het
Or5g9	T	C	2: 85,552,151 (GRCm39)	V134A	probably benign	Het
Pidd1	A	G	7: 141,019,081 (GRCm39)	V800A	probably damaging	Het
Ptprs	G	A	17: 56,742,972 (GRCm39)	S390L	probably benign	Het
Ralgapb	G	A	2: 158,307,880 (GRCm39)	V729I	possibly damaging	Het
Sfrp5	T	A	19: 42,187,207 (GRCm39)	M288L	probably benign	Het
Slc26a1	C	A	5: 108,821,676 (GRCm39)	G71V	probably damaging	Het
Srcin1	A	T	11: 97,416,170 (GRCm39)	S1021T	probably damaging	Het
Supt6	A	T	11: 78,123,011 (GRCm39)	M124K	possibly damaging	Het
Thada	A	G	17: 84,705,633 (GRCm39)	F1157S	probably damaging	Het
Tmcc2	A	G	1: 132,285,390 (GRCm39)	S424P	probably damaging	Het
Trim37	G	A	11: 87,092,447 (GRCm39)	R752Q	possibly damaging	Het
Unc80	A	T	1: 66,734,625 (GRCm39)	Q238L	probably damaging	Het
Vmn2r23	C	A	6: 123,681,333 (GRCm39)	H80Q	probably benign	Het
Wnt9a	A	T	11: 59,221,740 (GRCm39)	T213S	probably damaging	Het
Zfp953	T	A	13: 67,491,490 (GRCm39)	Q154L	probably benign	Het

Other mutations in Mtmr9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Mtmr9	APN	14	63,780,946 (GRCm39)	missense	probably damaging	1.00
IGL01309:Mtmr9	APN	14	63,764,254 (GRCm39)	missense	probably damaging	1.00
IGL01999:Mtmr9	APN	14	63,779,903 (GRCm39)	missense	probably damaging	1.00
IGL02164:Mtmr9	APN	14	63,767,737 (GRCm39)	missense	probably damaging	0.98
IGL02276:Mtmr9	APN	14	63,767,725 (GRCm39)	missense	probably damaging	1.00
IGL02868:Mtmr9	APN	14	63,761,588 (GRCm39)	missense	probably benign	0.41
R0089:Mtmr9	UTSW	14	63,765,696 (GRCm39)	missense	possibly damaging	0.80
R1231:Mtmr9	UTSW	14	63,765,640 (GRCm39)	missense	possibly damaging	0.55
R1562:Mtmr9	UTSW	14	63,771,786 (GRCm39)	missense	probably benign
R1726:Mtmr9	UTSW	14	63,774,547 (GRCm39)	missense	possibly damaging	0.93
R2016:Mtmr9	UTSW	14	63,777,713 (GRCm39)	missense	possibly damaging	0.59
R3751:Mtmr9	UTSW	14	63,780,997 (GRCm39)	missense	probably damaging	1.00
R6092:Mtmr9	UTSW	14	63,779,901 (GRCm39)	missense	possibly damaging	0.47
R6139:Mtmr9	UTSW	14	63,767,227 (GRCm39)	missense	probably benign
R6928:Mtmr9	UTSW	14	63,781,042 (GRCm39)	missense	probably benign	0.03
R7158:Mtmr9	UTSW	14	63,764,318 (GRCm39)	missense	probably benign
R7939:Mtmr9	UTSW	14	63,771,973 (GRCm39)	missense	probably damaging	1.00
R8859:Mtmr9	UTSW	14	63,781,226 (GRCm39)	start gained	probably benign
R9037:Mtmr9	UTSW	14	63,761,532 (GRCm39)	missense	possibly damaging	0.67
R9276:Mtmr9	UTSW	14	63,781,001 (GRCm39)	missense	probably damaging	1.00
R9547:Mtmr9	UTSW	14	63,779,855 (GRCm39)	missense	possibly damaging	0.89

Posted On

2016-08-02