Mutagenetix > Incidental Mutation

Incidental Mutation 'R6092:Mtmr9'

486011

Institutional Source

Beutler Lab

Gene Symbol

Mtmr9

Ensembl Gene

ENSMUSG00000035078

Gene Name

myotubularin related protein 9

Synonyms

MTMR8, 9430075G12Rik, LIP-STYX, mMTMH3

MMRRC Submission

044249-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.412) question?

Stock #

R6092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63757100-63781402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63779901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 63 (V63M)

Ref Sequence

ENSEMBL: ENSMUSP00000059894 (fasta)

Gene Model

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

AlphaFold

Q9Z2D0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058679
AA Change: V63M

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000059894
Gene: ENSMUSG00000035078
AA Change: V63M

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,701 (GRCm39)	P1297S	probably benign	Het
4930486L24Rik	C	T	13: 61,001,461 (GRCm39)	V89M	probably benign	Het
Abhd16a	T	C	17: 35,317,786 (GRCm39)		probably null	Het
Abtb1	A	C	6: 88,815,433 (GRCm39)	C264G	probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arid1a	C	T	4: 133,421,163 (GRCm39)	G881R	unknown	Het
Asb8	A	G	15: 98,034,123 (GRCm39)	V144A	possibly damaging	Het
Atm	A	C	9: 53,435,714 (GRCm39)	C199G	probably damaging	Het
Atxn1	C	A	13: 45,720,288 (GRCm39)	V536L	probably benign	Het
Baz1a	C	T	12: 54,955,868 (GRCm39)	V1074M	possibly damaging	Het
BC034090	T	A	1: 155,100,659 (GRCm39)	D535V	probably damaging	Het
Casp8ap2	C	A	4: 32,639,380 (GRCm39)	H145N	probably damaging	Het
Ccdc24	T	A	4: 117,729,645 (GRCm39)	K25*	probably null	Het
Ccdc91	A	G	6: 147,437,114 (GRCm39)	N100S	possibly damaging	Het
Cdh20	A	T	1: 110,026,036 (GRCm39)	Y424F	probably benign	Het
Clasp1	T	C	1: 118,438,028 (GRCm39)	S612P	probably damaging	Het
Cxcl14	T	C	13: 56,443,646 (GRCm39)	M55V	possibly damaging	Het
Dnah11	T	C	12: 117,892,191 (GRCm39)	T3661A	probably benign	Het
Dnah14	T	A	1: 181,449,398 (GRCm39)	D574E	probably benign	Het
Dnah6	C	T	6: 73,091,680 (GRCm39)	V2204M	possibly damaging	Het
Ercc4	A	T	16: 12,943,125 (GRCm39)	H178L	probably benign	Het
Far2	T	C	6: 148,076,581 (GRCm39)	F475L	probably benign	Het
Ggt7	A	G	2: 155,359,959 (GRCm39)		probably null	Het
Gm4131	T	A	14: 62,718,364 (GRCm39)	T81S	possibly damaging	Het
Gprc6a	A	G	10: 51,491,173 (GRCm39)	S788P	probably damaging	Het
Hmgxb3	C	A	18: 61,270,672 (GRCm39)	G884V	possibly damaging	Het
Homer1	T	A	13: 93,502,945 (GRCm39)		probably benign	Het
Iars1	T	C	13: 49,861,897 (GRCm39)	S483P	probably damaging	Het
Kansl1l	C	G	1: 66,812,643 (GRCm39)	E457Q	probably damaging	Het
Krtap4-9	G	A	11: 99,676,481 (GRCm39)		probably benign	Het
Lepr	C	A	4: 101,649,220 (GRCm39)	P874T	probably damaging	Het
Mad2l2	T	A	4: 148,228,067 (GRCm39)	F100L	probably damaging	Het
Mavs	A	T	2: 131,087,518 (GRCm39)	R339*	probably null	Het
Mettl1	G	A	10: 126,877,843 (GRCm39)		probably benign	Het
Mfsd8	A	G	3: 40,774,031 (GRCm39)	V493A	possibly damaging	Het
Mto1	T	C	9: 78,368,131 (GRCm39)	I425T	possibly damaging	Het
Or2av9	A	T	11: 58,380,900 (GRCm39)	M227K	probably damaging	Het
Or5g29	A	G	2: 85,420,950 (GRCm39)	Y22C	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pclo	C	T	5: 14,727,937 (GRCm39)		probably benign	Het
Phf2	T	C	13: 48,969,533 (GRCm39)	D608G	unknown	Het
Plch2	T	C	4: 155,068,829 (GRCm39)	T1266A	probably benign	Het
Prdm12	A	G	2: 31,533,889 (GRCm39)	N169D	probably damaging	Het
Rimbp3	A	G	16: 17,030,134 (GRCm39)	Y1186C	probably damaging	Het
Serpinb3d	T	C	1: 107,006,989 (GRCm39)	M240V	probably damaging	Het
Slc25a38	C	T	9: 119,945,658 (GRCm39)	R74C	probably damaging	Het
Slc25a39	A	T	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc26a8	T	C	17: 28,867,129 (GRCm39)	N564S	probably damaging	Het
Spag4	G	A	2: 155,907,696 (GRCm39)		probably benign	Het
Stx1b	A	G	7: 127,407,035 (GRCm39)	M74T	possibly damaging	Het
Tbc1d1	A	G	5: 64,507,242 (GRCm39)	D1153G	probably benign	Het
Tert	T	C	13: 73,776,700 (GRCm39)	F484L	probably benign	Het
Tet1	A	G	10: 62,649,494 (GRCm39)	V72A	probably benign	Het
Tnfrsf13c	T	C	15: 82,107,355 (GRCm39)	T147A	probably damaging	Het
Trpa1	A	T	1: 14,959,710 (GRCm39)	Y659N	probably damaging	Het
Trpm2	A	G	10: 77,761,516 (GRCm39)	F1045L	probably benign	Het
Ttc13	T	C	8: 125,405,772 (GRCm39)	H529R	probably benign	Het
Ttn	T	C	2: 76,545,614 (GRCm39)	T32570A	probably damaging	Het
Uba7	A	G	9: 107,860,359 (GRCm39)	T892A	possibly damaging	Het
Uty	A	T	Y: 1,174,836 (GRCm39)	M195K	probably benign	Het
Zfp109	A	G	7: 23,928,978 (GRCm39)	S152P	possibly damaging	Het
Zfp532	T	C	18: 65,777,281 (GRCm39)	V846A	probably damaging	Het
Zfp658	A	T	7: 43,223,951 (GRCm39)	H742L	possibly damaging	Het
Zfp831	C	A	2: 174,547,299 (GRCm39)	P1494Q	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
R3751:Mtmr9	UTSW	14	63,780,997 (GRCm39)	missense	probably damaging	1.00
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'- CGAAAGTAGCAAGATTCGCAC -3'
(R):5'- TGTGTACAAGATACCATCAGCAG -3'

Sequencing Primer
(F):5'- GATTCTTATGCATCAAGGGCTGTAC -3'
(R):5'- GCAGACTACTAGACTCCTCAGTTC -3'

Posted On

2017-08-16