Mutagenetix > Incidental Mutation

Incidental Mutation 'R2191:Mtmr3'

238121

Institutional Source

Beutler Lab

Gene Symbol

Mtmr3

Ensembl Gene

ENSMUSG00000034354

Gene Name

myotubularin related protein 3

Synonyms

FYVE-DSP1, 1700092A20Rik, ZFYVE10

MMRRC Submission

040193-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4430868-4544863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4449032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 244 (W244R)

Ref Sequence

ENSEMBL: ENSMUSP00000116315 (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: W245R

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

SMART Domains

Protein: ENSMUSP00000049079
Gene: ENSMUSG00000034354
AA Change: W245R

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: W245R

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

SMART Domains

Protein: ENSMUSP00000105569
Gene: ENSMUSG00000034354
AA Change: W245R

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: W244R

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

SMART Domains

Protein: ENSMUSP00000122422
Gene: ENSMUSG00000034354
AA Change: W244R

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: W244R

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

SMART Domains

Protein: ENSMUSP00000116315
Gene: ENSMUSG00000034354
AA Change: W244R

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

possibly damaging
Transcript: ENSMUST00000130716
AA Change: W245R

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137687
Gene: ENSMUSG00000034354
AA Change: W245R

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,078,865 (GRCm39)	S716P	possibly damaging	Het
Abcb5	A	C	12: 118,831,691 (GRCm39)	N1220K	probably damaging	Het
Acsl3	A	T	1: 78,676,857 (GRCm39)	E479D	probably damaging	Het
Actn1	A	T	12: 80,218,576 (GRCm39)	L736*	probably null	Het
Adcyap1	A	G	17: 93,507,454 (GRCm39)	S5G	possibly damaging	Het
Adgrv1	T	C	13: 81,714,409 (GRCm39)	N958S	possibly damaging	Het
Armc1	T	A	3: 19,188,225 (GRCm39)	N274Y	probably damaging	Het
Atp9b	G	A	18: 80,796,266 (GRCm39)	R926W	probably damaging	Het
Cacna1e	G	T	1: 154,319,591 (GRCm39)	Q1370K	probably damaging	Het
Cdip1	C	T	16: 4,587,927 (GRCm39)	S12N	probably benign	Het
Chrna3	T	A	9: 54,923,329 (GRCm39)	I160F	probably damaging	Het
Cnot1	A	G	8: 96,488,054 (GRCm39)	I534T	probably damaging	Het
Cr2	T	A	1: 194,845,689 (GRCm39)	I465F	possibly damaging	Het
Daw1	A	G	1: 83,170,384 (GRCm39)	D232G	probably benign	Het
Dcaf6	T	C	1: 165,250,433 (GRCm39)	T144A	probably benign	Het
Dhx30	A	T	9: 109,915,186 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,645,034 (GRCm39)	S1001P	possibly damaging	Het
Dnajb9	T	C	12: 44,253,856 (GRCm39)	T184A	probably benign	Het
Dsg1b	T	C	18: 20,542,675 (GRCm39)	*1061Q	probably null	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Edem3	T	A	1: 151,672,634 (GRCm39)	V450D	probably damaging	Het
Ephb6	G	T	6: 41,593,019 (GRCm39)	R419L	possibly damaging	Het
Fbxo10	G	C	4: 45,044,811 (GRCm39)	P608R	probably damaging	Het
Flrt1	A	G	19: 7,073,194 (GRCm39)	I451T	probably damaging	Het
Gm6309	A	T	5: 146,105,681 (GRCm39)	V161E	possibly damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Igsf1	C	A	X: 48,872,027 (GRCm39)	L714F	probably damaging	Het
Inpp4b	C	T	8: 82,723,931 (GRCm39)	P488S	probably damaging	Het
Ints6l	T	A	X: 55,550,110 (GRCm39)	H678Q	probably benign	Het
Itprid1	A	T	6: 55,944,704 (GRCm39)	Q475L	probably benign	Het
Kdm2a	A	T	19: 4,406,959 (GRCm39)		probably null	Het
Khdrbs3	G	T	15: 68,964,809 (GRCm39)	V249F	probably damaging	Het
Kmt2d	A	T	15: 98,758,930 (GRCm39)		probably null	Het
Laptm4a	T	C	12: 8,972,296 (GRCm39)		probably null	Het
Lrp2bp	C	T	8: 46,466,206 (GRCm39)	T105I	probably benign	Het
Lrrc37	A	C	11: 103,509,793 (GRCm39)		probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Myo18a	A	G	11: 77,709,441 (GRCm39)	D138G	probably damaging	Het
Nlrp9b	A	T	7: 19,757,587 (GRCm39)	I275L	probably benign	Het
Nol6	C	T	4: 41,118,720 (GRCm39)	R719H	probably benign	Het
Omt2b	G	A	9: 78,235,457 (GRCm39)		probably benign	Het
Or2a54	T	C	6: 43,092,999 (GRCm39)	S108P	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or8g23	A	T	9: 38,971,701 (GRCm39)	I87K	probably benign	Het
Pclo	C	T	5: 14,763,862 (GRCm39)	L4112F	unknown	Het
Pglyrp2	T	C	17: 32,634,931 (GRCm39)	N477S	probably benign	Het
Phf20	T	C	2: 156,118,574 (GRCm39)	V426A	probably benign	Het
Pla2g4e	CTT	CTTT	2: 120,021,680 (GRCm39)		probably null	Het
Plagl1	A	C	10: 13,004,685 (GRCm39)		probably benign	Het
Ppip5k2	A	G	1: 97,671,835 (GRCm39)	V479A	probably damaging	Het
Prkdc	A	C	16: 15,516,688 (GRCm39)	T1021P	probably damaging	Het
Rdh7	C	T	10: 127,724,467 (GRCm39)	V6I	probably benign	Het
Rictor	A	T	15: 6,789,095 (GRCm39)	H237L	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,113,772 (GRCm39)		probably null	Het
Setd5	C	T	6: 113,088,390 (GRCm39)	Q173*	probably null	Het
Sipa1l1	T	A	12: 82,443,465 (GRCm39)	Y918*	probably null	Het
Slc13a1	T	G	6: 24,134,396 (GRCm39)	E162D	possibly damaging	Het
Slc39a9	G	A	12: 80,709,301 (GRCm39)	A52T	probably damaging	Het
Srebf1	T	C	11: 60,111,365 (GRCm39)	D2G	probably damaging	Het
Stab1	A	T	14: 30,864,757 (GRCm39)	M66K	probably benign	Het
Stab1	T	C	14: 30,881,227 (GRCm39)	N601S	probably damaging	Het
Sv2b	C	T	7: 74,773,836 (GRCm39)	G545D	probably damaging	Het
Syt5	G	A	7: 4,546,088 (GRCm39)	Q101*	probably null	Het
Thada	A	G	17: 84,753,949 (GRCm39)	F341L	probably benign	Het
Tln2	T	G	9: 67,262,503 (GRCm39)	I585L	probably damaging	Het
Tmem67	C	G	4: 12,069,413 (GRCm39)		probably null	Het
Tonsl	G	T	15: 76,516,880 (GRCm39)	L917M	probably damaging	Het
Ttk	A	G	9: 83,744,236 (GRCm39)	K519E	probably damaging	Het
Ttn	T	C	2: 76,537,478 (GRCm39)	T34817A	probably benign	Het
Ubr1	A	T	2: 120,756,528 (GRCm39)	S700T	probably damaging	Het
Unc13b	C	A	4: 43,245,566 (GRCm39)	C1312*	probably null	Het
Usp36	A	G	11: 118,175,849 (GRCm39)	L104P	possibly damaging	Het
Vmn1r216	T	C	13: 23,283,403 (GRCm39)	F29L	probably benign	Het
Vmn1r225	T	C	17: 20,723,147 (GRCm39)	I196T	probably damaging	Het
Vmn1r50	T	C	6: 90,085,121 (GRCm39)	F289L	probably benign	Het
Ythdf3	T	C	3: 16,257,375 (GRCm39)		probably benign	Het
Zfp507	T	A	7: 35,494,268 (GRCm39)	K258N	probably damaging	Het
Zscan5b	A	G	7: 6,234,442 (GRCm39)	H156R	possibly damaging	Het

Other mutations in Mtmr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Mtmr3	APN	11	4,477,861 (GRCm39)	missense	probably damaging	1.00
IGL01808:Mtmr3	APN	11	4,447,404 (GRCm39)	missense	probably damaging	1.00
IGL01994:Mtmr3	APN	11	4,437,938 (GRCm39)	missense	probably benign
IGL02839:Mtmr3	APN	11	4,437,994 (GRCm39)	missense	probably benign	0.03
IGL02893:Mtmr3	APN	11	4,457,632 (GRCm39)	missense	possibly damaging	0.89
IGL03370:Mtmr3	APN	11	4,437,385 (GRCm39)	missense	probably damaging	1.00
capellini	UTSW	11	4,447,381 (GRCm39)	nonsense	probably null
R0322:Mtmr3	UTSW	11	4,437,505 (GRCm39)	missense	possibly damaging	0.59
R0363:Mtmr3	UTSW	11	4,437,536 (GRCm39)	missense	probably damaging	0.99
R0655:Mtmr3	UTSW	11	4,438,610 (GRCm39)	missense	probably damaging	1.00
R0866:Mtmr3	UTSW	11	4,438,474 (GRCm39)	missense	probably benign	0.03
R1065:Mtmr3	UTSW	11	4,442,859 (GRCm39)	missense	probably damaging	1.00
R1417:Mtmr3	UTSW	11	4,437,923 (GRCm39)	missense	probably benign
R1698:Mtmr3	UTSW	11	4,442,825 (GRCm39)	missense	possibly damaging	0.95
R1707:Mtmr3	UTSW	11	4,454,095 (GRCm39)	missense	probably damaging	1.00
R2192:Mtmr3	UTSW	11	4,449,032 (GRCm39)	missense	probably damaging	1.00
R3956:Mtmr3	UTSW	11	4,441,138 (GRCm39)	missense	probably damaging	1.00
R4079:Mtmr3	UTSW	11	4,441,057 (GRCm39)	missense	probably damaging	1.00
R4320:Mtmr3	UTSW	11	4,437,947 (GRCm39)	missense	probably benign	0.39
R4577:Mtmr3	UTSW	11	4,447,375 (GRCm39)	missense	probably damaging	1.00
R4622:Mtmr3	UTSW	11	4,441,067 (GRCm39)	missense	possibly damaging	0.62
R4676:Mtmr3	UTSW	11	4,477,855 (GRCm39)	missense	probably benign	0.12
R4726:Mtmr3	UTSW	11	4,457,634 (GRCm39)	missense	probably damaging	1.00
R4781:Mtmr3	UTSW	11	4,438,435 (GRCm39)	missense	probably benign	0.00
R4799:Mtmr3	UTSW	11	4,437,764 (GRCm39)	missense	probably benign	0.12
R4810:Mtmr3	UTSW	11	4,448,046 (GRCm39)	missense	probably benign	0.33
R5744:Mtmr3	UTSW	11	4,437,679 (GRCm39)	missense	possibly damaging	0.47
R5847:Mtmr3	UTSW	11	4,432,925 (GRCm39)	missense	probably damaging	1.00
R5933:Mtmr3	UTSW	11	4,448,951 (GRCm39)	missense	probably benign
R6102:Mtmr3	UTSW	11	4,437,673 (GRCm39)	missense	probably damaging	0.99
R6105:Mtmr3	UTSW	11	4,435,432 (GRCm39)	missense	probably damaging	0.99
R6254:Mtmr3	UTSW	11	4,447,381 (GRCm39)	nonsense	probably null
R6443:Mtmr3	UTSW	11	4,437,358 (GRCm39)	missense	probably damaging	0.99
R6881:Mtmr3	UTSW	11	4,439,725 (GRCm39)	missense	probably benign	0.33
R6941:Mtmr3	UTSW	11	4,437,505 (GRCm39)	missense	possibly damaging	0.59
R6986:Mtmr3	UTSW	11	4,439,692 (GRCm39)	missense	probably damaging	1.00
R7045:Mtmr3	UTSW	11	4,448,896 (GRCm39)	missense	possibly damaging	0.94
R8469:Mtmr3	UTSW	11	4,481,223 (GRCm39)	start codon destroyed	probably null	0.95
R9169:Mtmr3	UTSW	11	4,437,739 (GRCm39)	missense	probably benign	0.00
R9452:Mtmr3	UTSW	11	4,441,037 (GRCm39)	missense	probably damaging	1.00
R9520:Mtmr3	UTSW	11	4,441,131 (GRCm39)	missense	probably damaging	1.00
R9564:Mtmr3	UTSW	11	4,440,992 (GRCm39)	missense	possibly damaging	0.96
R9667:Mtmr3	UTSW	11	4,470,890 (GRCm39)	missense	probably damaging	1.00
T0975:Mtmr3	UTSW	11	4,438,441 (GRCm39)	missense	probably benign
Z1176:Mtmr3	UTSW	11	4,435,913 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACTGCTGCATGGGCCTAG -3'
(R):5'- TGGTAACTTTACAGAGAGCACTATC -3'

Sequencing Primer
(F):5'- ATGGGCCTAGTGAGCACCTTAC -3'
(R):5'- CATCCTTTTATGAGTGCAGAGC -3'

Posted On

2014-10-02