Mutagenetix > Incidental Mutation

Incidental Mutation 'R1707:Mtmr3'

190169

Institutional Source

Beutler Lab

Gene Symbol

Mtmr3

Ensembl Gene

ENSMUSG00000034354

Gene Name

myotubularin related protein 3

Synonyms

FYVE-DSP1, 1700092A20Rik, ZFYVE10

MMRRC Submission

039740-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1707 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4480868-4594863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4504095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 203 (D203G)

Ref Sequence

ENSEMBL: ENSMUSP00000137687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040448] [ENSMUST00000109943] [ENSMUST00000123506] [ENSMUST00000128256] [ENSMUST00000130716]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040448
AA Change: D203G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049079
Gene: ENSMUSG00000034354
AA Change: D203G

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	126	527	7.6e-149	PFAM
low complexity region	578	590	N/A	INTRINSIC
low complexity region	821	832	N/A	INTRINSIC
coiled coil region	1027	1058	N/A	INTRINSIC
FYVE	1072	1141	3.63e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109943
AA Change: D203G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105569
Gene: ENSMUSG00000034354
AA Change: D203G

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	126	527	7.6e-149	PFAM
low complexity region	578	590	N/A	INTRINSIC
low complexity region	821	832	N/A	INTRINSIC
coiled coil region	1027	1058	N/A	INTRINSIC
FYVE	1072	1141	3.63e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123506
AA Change: D202G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122422
Gene: ENSMUSG00000034354
AA Change: D202G

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	126	524	1e-138	PFAM
low complexity region	577	589	N/A	INTRINSIC
low complexity region	820	831	N/A	INTRINSIC
coiled coil region	1026	1057	N/A	INTRINSIC
FYVE	1108	1177	7.77e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000128256
AA Change: D202G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116315
Gene: ENSMUSG00000034354
AA Change: D202G

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	125	526	7.7e-149	PFAM
low complexity region	577	589	N/A	INTRINSIC
low complexity region	820	831	N/A	INTRINSIC
coiled coil region	1026	1057	N/A	INTRINSIC
FYVE	1071	1149	1.42e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000130716
AA Change: D203G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137687
Gene: ENSMUSG00000034354
AA Change: D203G

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	126	527	2.2e-148	PFAM
low complexity region	578	590	N/A	INTRINSIC
low complexity region	821	832	N/A	INTRINSIC
coiled coil region	1027	1058	N/A	INTRINSIC

Meta Mutation Damage Score

0.9146

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

96% (82/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased serum alkaline phosphatase level and, in males, impaired glucose tolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	T	1: 160,070,802		probably benign	Het
4931429P17Rik	A	G	13: 47,961,005		noncoding transcript	Het
Acox3	T	A	5: 35,601,564	I373N	possibly damaging	Het
Adgrb1	G	T	15: 74,529,343	A63S	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Aplp2	A	T	9: 31,150,919	H692Q	probably damaging	Het
Arhgap24	T	C	5: 102,892,087	S297P	probably benign	Het
Arhgap9	C	T	10: 127,328,889	P561S	probably benign	Het
Arhgef10l	T	G	4: 140,564,289	D62A	probably damaging	Het
Asb14	T	G	14: 26,901,122	F150L	probably benign	Het
Atp8b3	A	T	10: 80,521,801		probably null	Het
Atrnl1	A	G	19: 57,686,737	D686G	probably benign	Het
Bmpr1a	A	T	14: 34,425,141		probably benign	Het
C330027C09Rik	A	C	16: 49,018,404	Q861H	probably damaging	Het
Cc2d2a	T	A	5: 43,723,688		probably null	Het
Ccin	T	A	4: 43,983,947	I118N	probably benign	Het
Cd8b1	G	A	6: 71,326,184	G81D	probably damaging	Het
Cep126	G	A	9: 8,100,382	S717L	probably benign	Het
Colgalt2	C	T	1: 152,400,363	R76W	probably damaging	Het
Copg1	A	T	6: 87,905,210	T596S	probably benign	Het
Cpb1	G	A	3: 20,275,491	R24W	probably damaging	Het
Csad	T	A	15: 102,179,972	D134V	probably damaging	Het
Dchs2	A	G	3: 83,127,605		probably benign	Het
Ddb2	A	G	2: 91,234,209	W119R	probably damaging	Het
Dhx57	A	T	17: 80,275,226	S317T	probably damaging	Het
Dlc1	A	G	8: 36,937,609	V342A	probably benign	Het
Dpp4	G	A	2: 62,359,335		probably benign	Het
Dst	G	T	1: 34,167,646	W1005L	probably damaging	Het
Ehmt1	T	C	2: 24,805,138	M989V	probably benign	Het
Gm17660	T	A	5: 104,074,233		probably benign	Het
Gm5422	G	A	10: 31,248,462		noncoding transcript	Het
Gm9944	A	G	4: 144,453,263		probably benign	Het
Gtf2ird2	T	C	5: 134,216,987	Y696H	probably damaging	Het
H2-M11	T	G	17: 36,548,766	V217G	probably damaging	Het
Hrasls	A	G	16: 29,228,226	K166E	probably damaging	Het
Hunk	C	T	16: 90,386,407		probably benign	Het
Impg1	T	C	9: 80,378,517		probably null	Het
Ints11	T	G	4: 155,875,198	D87E	probably benign	Het
Intu	T	A	3: 40,540,924	S21T	probably benign	Het
Intu	C	A	3: 40,683,501	D472E	possibly damaging	Het
Kbtbd3	T	A	9: 4,316,985	N45K	probably benign	Het
Kif1c	C	T	11: 70,728,397	L953F	probably damaging	Het
Klrg2	C	G	6: 38,636,794	E91D	possibly damaging	Het
Lamc3	T	C	2: 31,912,129		probably null	Het
Magi2	T	G	5: 20,215,493	M309R	probably damaging	Het
Magohb	G	A	6: 131,284,637	P147S	probably damaging	Het
Mdn1	A	G	4: 32,693,504	D1043G	probably damaging	Het
Mvp	C	T	7: 127,001,572	V86I	probably benign	Het
Naip5	A	T	13: 100,242,855	F226I	probably damaging	Het
Nasp	T	A	4: 116,618,936	Q51L	probably damaging	Het
Nf1	T	A	11: 79,535,604	F1594I	probably damaging	Het
Nod2	A	C	8: 88,670,476	E816A	possibly damaging	Het
Nom1	G	A	5: 29,435,318	S214N	probably damaging	Het
Olfr168	T	C	16: 19,530,177	T248A	probably benign	Het
Olfr25	T	A	9: 38,329,901	F105I	probably damaging	Het
Parp14	A	C	16: 35,857,849	L583R	probably damaging	Het
Pclo	T	C	5: 14,713,224	S3904P	unknown	Het
Pkhd1	T	A	1: 20,550,840		probably benign	Het
Polr1e	A	C	4: 45,027,469	D233A	probably damaging	Het
Prr29	T	C	11: 106,376,683	V124A	probably damaging	Het
Rasgrp1	A	T	2: 117,298,547	V197E	probably damaging	Het
Rgma	A	T	7: 73,417,959	T415S	unknown	Het
Sacs	G	T	14: 61,209,762	V3086L	probably benign	Het
Sash1	A	G	10: 8,730,377	S750P	probably benign	Het
Sdccag3	T	A	2: 26,387,606	N69Y	probably damaging	Het
Sema6a	A	T	18: 47,283,445	S372T	probably benign	Het
Sis	A	G	3: 72,909,087		probably benign	Het
Skint8	T	A	4: 111,939,572	V291D	probably damaging	Het
Slc12a8	A	G	16: 33,551,007	N171S	probably damaging	Het
Slc25a40	G	A	5: 8,440,793		probably null	Het
Spag6l	A	T	16: 16,780,628	I333N	probably benign	Het
Sspo	T	A	6: 48,477,877	F2999L	probably damaging	Het
Stambpl1	A	C	19: 34,238,821	T363P	probably damaging	Het
Tenm4	A	T	7: 96,888,685	N1785Y	probably damaging	Het
Tln2	C	T	9: 67,375,807	S293N	probably benign	Het
Tmed3	G	A	9: 89,702,780	L141F	probably damaging	Het
Tmem30c	G	T	16: 57,266,480	T320K	possibly damaging	Het
Tnn	T	C	1: 160,145,144	Y296C	probably damaging	Het
Ttn	C	T	2: 76,790,086	A15802T	probably damaging	Het
Usp53	T	C	3: 122,947,400	M734V	probably benign	Het
Vmn1r24	A	G	6: 57,956,512	I7T	probably benign	Het
Vmn1r74	T	A	7: 11,847,577	V268E	probably damaging	Het
Xirp1	A	T	9: 120,018,775	H347Q	possibly damaging	Het

Other mutations in Mtmr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Mtmr3	APN	11	4527861	missense	probably damaging	1.00
IGL01808:Mtmr3	APN	11	4497404	missense	probably damaging	1.00
IGL01994:Mtmr3	APN	11	4487938	missense	probably benign
IGL02839:Mtmr3	APN	11	4487994	missense	probably benign	0.03
IGL02893:Mtmr3	APN	11	4507632	missense	possibly damaging	0.89
IGL03370:Mtmr3	APN	11	4487385	missense	probably damaging	1.00
capellini	UTSW	11	4497381	nonsense	probably null
R0322:Mtmr3	UTSW	11	4487505	missense	possibly damaging	0.59
R0363:Mtmr3	UTSW	11	4487536	missense	probably damaging	0.99
R0655:Mtmr3	UTSW	11	4488610	missense	probably damaging	1.00
R0866:Mtmr3	UTSW	11	4488474	missense	probably benign	0.03
R1065:Mtmr3	UTSW	11	4492859	missense	probably damaging	1.00
R1417:Mtmr3	UTSW	11	4487923	missense	probably benign
R1698:Mtmr3	UTSW	11	4492825	missense	possibly damaging	0.95
R2191:Mtmr3	UTSW	11	4499032	missense	probably damaging	1.00
R2192:Mtmr3	UTSW	11	4499032	missense	probably damaging	1.00
R3956:Mtmr3	UTSW	11	4491138	missense	probably damaging	1.00
R4079:Mtmr3	UTSW	11	4491057	missense	probably damaging	1.00
R4320:Mtmr3	UTSW	11	4487947	missense	probably benign	0.39
R4577:Mtmr3	UTSW	11	4497375	missense	probably damaging	1.00
R4622:Mtmr3	UTSW	11	4491067	missense	possibly damaging	0.62
R4676:Mtmr3	UTSW	11	4527855	missense	probably benign	0.12
R4726:Mtmr3	UTSW	11	4507634	missense	probably damaging	1.00
R4781:Mtmr3	UTSW	11	4488435	missense	probably benign	0.00
R4799:Mtmr3	UTSW	11	4487764	missense	probably benign	0.12
R4810:Mtmr3	UTSW	11	4498046	missense	probably benign	0.33
R5744:Mtmr3	UTSW	11	4487679	missense	possibly damaging	0.47
R5847:Mtmr3	UTSW	11	4482925	missense	probably damaging	1.00
R5933:Mtmr3	UTSW	11	4498951	missense	probably benign
R6102:Mtmr3	UTSW	11	4487673	missense	probably damaging	0.99
R6105:Mtmr3	UTSW	11	4485432	missense	probably damaging	0.99
R6254:Mtmr3	UTSW	11	4497381	nonsense	probably null
R6443:Mtmr3	UTSW	11	4487358	missense	probably damaging	0.99
R6881:Mtmr3	UTSW	11	4489725	missense	probably benign	0.33
R6941:Mtmr3	UTSW	11	4487505	missense	possibly damaging	0.59
R6986:Mtmr3	UTSW	11	4489692	missense	probably damaging	1.00
R7045:Mtmr3	UTSW	11	4498896	missense	possibly damaging	0.94
R8469:Mtmr3	UTSW	11	4531223	start codon destroyed	probably null	0.95
R9169:Mtmr3	UTSW	11	4487739	missense	probably benign	0.00
R9452:Mtmr3	UTSW	11	4491037	missense	probably damaging	1.00
R9520:Mtmr3	UTSW	11	4491131	missense	probably damaging	1.00
R9564:Mtmr3	UTSW	11	4490992	missense	possibly damaging	0.96
R9667:Mtmr3	UTSW	11	4520890	missense	probably damaging	1.00
T0975:Mtmr3	UTSW	11	4488441	missense	probably benign
Z1176:Mtmr3	UTSW	11	4485913	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGCTCTGGACACAGTGAGTGC -3'
(R):5'- TGGCTGCCTATTCTGGTAAGGAGAC -3'

Sequencing Primer
(F):5'- TGTAGACACAGCTTTAGCAACAAG -3'
(R):5'- gaacatgctaggcaagcac -3'

Posted On

2014-05-14