Mutagenetix > Incidental Mutation

Incidental Mutation 'R3751:Mtmr9'

271228

Institutional Source

Beutler Lab

Gene Symbol

Mtmr9

Ensembl Gene

ENSMUSG00000035078

Gene Name

myotubularin related protein 9

Synonyms

MTMR8, 9430075G12Rik, LIP-STYX, mMTMH3

MMRRC Submission

040736-MU

Accession Numbers

Essential gene?

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

Stock #

R3751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63757100-63781402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63780997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 31 (L31P)

Ref Sequence

ENSEMBL: ENSMUSP00000059894 (fasta)

Gene Model

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

AlphaFold

Q9Z2D0

Predicted Effect

probably damaging
Transcript: ENSMUST00000058679
AA Change: L31P

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

SMART Domains

Protein: ENSMUSP00000059894
Gene: ENSMUSG00000035078
AA Change: L31P

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

Meta Mutation Damage Score

0.6450

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

93% (43/46)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	T	7: 12,289,973 (GRCm39)	R183I	probably benign	Het
BC016579	A	T	16: 45,453,361 (GRCm39)		probably null	Het
BC051665	A	T	13: 60,931,145 (GRCm39)	F258I	probably damaging	Het
Brd1	C	T	15: 88,573,821 (GRCm39)	V1093I	possibly damaging	Het
Ccdc125	A	G	13: 100,814,459 (GRCm39)	D13G	possibly damaging	Het
Ceacam18	T	A	7: 43,291,372 (GRCm39)	H271Q	probably damaging	Het
Cep104	A	G	4: 154,066,213 (GRCm39)	Y137C	probably damaging	Het
Clca3a1	A	G	3: 144,724,424 (GRCm39)	V212A	probably benign	Het
Clca3a2	A	T	3: 144,777,216 (GRCm39)	M885K	probably benign	Het
Col6a4	G	T	9: 105,949,313 (GRCm39)	T774N	probably damaging	Het
D430041D05Rik	T	C	2: 104,085,403 (GRCm39)	T1049A	possibly damaging	Het
Dlk1	A	G	12: 109,426,239 (GRCm39)	I276V	probably benign	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Efcab9	T	C	11: 32,477,420 (GRCm39)	H34R	probably benign	Het
Erc1	T	A	6: 119,801,921 (GRCm39)	H32L	probably damaging	Het
Ezh2	T	C	6: 47,532,998 (GRCm39)	I141M	possibly damaging	Het
Fbln1	T	A	15: 85,111,279 (GRCm39)	C144*	probably null	Het
Iqsec3	C	T	6: 121,353,214 (GRCm39)	A1135T	probably benign	Het
Irak4	T	C	15: 94,459,476 (GRCm39)	I364T	probably damaging	Het
Itpr1	T	A	6: 108,326,641 (GRCm39)	I121N	probably damaging	Het
Krtap17-1	A	T	11: 99,884,481 (GRCm39)	C95*	probably null	Het
Lrrd1	T	A	5: 3,900,282 (GRCm39)	S196T	probably benign	Het
Man2c1	A	G	9: 57,048,058 (GRCm39)	Y748C	probably damaging	Het
Map4	A	G	9: 109,867,742 (GRCm39)		probably benign	Het
Mib2	A	G	4: 155,739,741 (GRCm39)	F810S	probably damaging	Het
Myo5c	A	G	9: 75,183,284 (GRCm39)	Q886R	probably damaging	Het
Nhsl3	A	G	4: 129,118,115 (GRCm39)		probably benign	Het
Or2g1	T	C	17: 38,107,123 (GRCm39)	S263P	possibly damaging	Het
Or6c38	T	A	10: 128,929,175 (GRCm39)	I223F	probably damaging	Het
Or7h8	C	T	9: 20,124,556 (GRCm39)	L304F	probably damaging	Het
Paqr8	A	G	1: 21,005,856 (GRCm39)	T337A	probably benign	Het
Pdgfd	A	T	9: 6,337,447 (GRCm39)		probably benign	Het
Ppm1k	T	G	6: 57,501,845 (GRCm39)	E106A	probably benign	Het
Rbp3	A	T	14: 33,677,969 (GRCm39)	E639V	probably damaging	Het
Rnf214	A	C	9: 45,778,901 (GRCm39)	I581S	probably damaging	Het
Scaf11	A	G	15: 96,316,417 (GRCm39)	V1049A	probably damaging	Het
Slc51a	A	G	16: 32,295,292 (GRCm39)	L262P	probably benign	Het
Slc6a21	G	A	7: 44,929,928 (GRCm39)	V139I	probably benign	Het
Slc8a3	G	T	12: 81,250,912 (GRCm39)	L684M	probably damaging	Het
Spg7	G	C	8: 123,814,112 (GRCm39)	R457P	probably damaging	Het
Tnks1bp1	C	T	2: 84,889,066 (GRCm39)		probably benign	Het
Vmn1r189	T	C	13: 22,286,382 (GRCm39)	T152A	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zfp366	A	G	13: 99,365,352 (GRCm39)	Y171C	probably damaging	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
IGL03347:Mtmr9	APN	14	63,781,016 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- AGAAGGCTCATTTGGCTGGC -3'
(R):5'- AACGCTCAGCAGCTACTTCC -3'

Sequencing Primer
(F):5'- AACCACCTGAAAGCGTCT -3'
(R):5'- AAGCCTTCTCTGCGACCGAG -3'

Posted On

2015-03-18