Mutagenetix > Incidental Mutation

Incidental Mutation 'R5933:Mtmr3'

462030

Institutional Source

Beutler Lab

Gene Symbol

Mtmr3

Ensembl Gene

ENSMUSG00000034354

Gene Name

myotubularin related protein 3

Synonyms

FYVE-DSP1, 1700092A20Rik, ZFYVE10

MMRRC Submission

044127-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4430868-4544863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4448951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 272 (V272I)

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 benign
Transcript: ENSMUST00000040448
AA Change: V272I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049079
Gene: ENSMUSG00000034354
AA Change: V272I

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 benign
Transcript: ENSMUST00000109943
AA Change: V272I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105569
Gene: ENSMUSG00000034354
AA Change: V272I

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 benign
Transcript: ENSMUST00000123506
AA Change: V271I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122422
Gene: ENSMUSG00000034354
AA Change: V271I

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 benign
Transcript: ENSMUST00000128256
AA Change: V271I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116315
Gene: ENSMUSG00000034354
AA Change: V271I

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 benign
Transcript: ENSMUST00000130716
AA Change: V272I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137687
Gene: ENSMUSG00000034354
AA Change: V272I

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

94% (99/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,776,109 (GRCm39)	P1766L	probably damaging	Het
Abca13	A	G	11: 9,199,658 (GRCm39)	Q119R	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aipl1	A	C	11: 71,921,108 (GRCm39)	C237G	probably benign	Het
Ankdd1a	C	T	9: 65,416,978 (GRCm39)	A154T	probably benign	Het
Arglu1	T	C	8: 8,740,047 (GRCm39)	S91G	probably benign	Het
Arhgef33	C	A	17: 80,644,709 (GRCm39)	H13N	probably benign	Het
Atp1a4	A	G	1: 172,059,841 (GRCm39)	I796T	possibly damaging	Het
Birc6	C	G	17: 74,906,232 (GRCm39)	S1374R	probably damaging	Het
Birc6	T	A	17: 74,906,233 (GRCm39)	S72T	probably damaging	Het
Bmpr1b	T	C	3: 141,577,128 (GRCm39)	*59W	probably null	Het
Btbd16	A	T	7: 130,386,011 (GRCm39)	Q63L	probably damaging	Het
Cacna1c	C	T	6: 118,589,541 (GRCm39)	R1592H	probably damaging	Het
Caps2	G	A	10: 112,051,351 (GRCm39)	E541K	probably benign	Het
Card9	T	C	2: 26,242,509 (GRCm39)	E500G	probably damaging	Het
Carnmt1	T	C	19: 18,681,469 (GRCm39)	V396A	probably benign	Het
Ccnl1	T	A	3: 65,855,763 (GRCm39)	K320M	probably damaging	Het
Cdh20	A	C	1: 104,912,396 (GRCm39)	D550A	probably damaging	Het
Cdhr1	T	A	14: 36,811,419 (GRCm39)	T231S	probably benign	Het
Cenpe	T	C	3: 134,967,389 (GRCm39)	V2177A	probably benign	Het
Cfap69	A	G	5: 5,690,183 (GRCm39)	C161R	probably damaging	Het
Ctsd	C	T	7: 141,930,316 (GRCm39)	V403I	probably benign	Het
Cyth1	C	T	11: 118,076,585 (GRCm39)		probably null	Het
Dazl	A	T	17: 50,594,781 (GRCm39)		probably null	Het
Disp3	A	T	4: 148,325,770 (GRCm39)	C1329*	probably null	Het
Dld	C	T	12: 31,383,982 (GRCm39)	V374I	probably benign	Het
Dnah7c	T	C	1: 46,558,375 (GRCm39)	Y494H	probably damaging	Het
Dnttip2	T	A	3: 122,069,217 (GRCm39)	M144K	probably benign	Het
Drc1	A	T	5: 30,502,873 (GRCm39)	D132V	probably damaging	Het
Enpp6	A	G	8: 47,519,039 (GRCm39)	D269G	probably benign	Het
Ephx4	T	A	5: 107,551,631 (GRCm39)		probably null	Het
Evl	T	C	12: 108,649,516 (GRCm39)	S345P	possibly damaging	Het
Fam193a	A	T	5: 34,623,024 (GRCm39)	D1204V	probably damaging	Het
Fat2	A	T	11: 55,174,877 (GRCm39)	D1945E	probably damaging	Het
Fat4	T	C	3: 39,005,524 (GRCm39)		probably null	Het
Fbln7	A	T	2: 128,719,418 (GRCm39)	M72L	probably benign	Het
Flnc	T	C	6: 29,441,105 (GRCm39)	V353A	probably damaging	Het
Fry	T	C	5: 150,314,265 (GRCm39)		probably benign	Het
Galnt14	A	T	17: 73,833,300 (GRCm39)	C225S	probably benign	Het
Gapvd1	T	C	2: 34,574,303 (GRCm39)	S1265G	probably benign	Het
Gm13030	A	G	4: 138,598,515 (GRCm39)	F136S	unknown	Het
Gucy1a1	T	C	3: 82,002,114 (GRCm39)	H655R	probably damaging	Het
Hk1	A	G	10: 62,105,773 (GRCm39)	L890P	probably damaging	Het
Igfn1	T	A	1: 135,898,341 (GRCm39)	R742*	probably null	Het
Igkv12-49	T	C	6: 69,693,553 (GRCm39)		noncoding transcript	Het
Igkv2-109	T	A	6: 68,279,965 (GRCm39)	L62Q	possibly damaging	Het
Itgb3	A	G	11: 104,528,805 (GRCm39)	T311A	possibly damaging	Het
Kl	A	G	5: 150,912,948 (GRCm39)	E899G	probably damaging	Het
Kyat3	A	T	3: 142,429,021 (GRCm39)	D151V	probably damaging	Het
Morc2b	A	T	17: 33,357,583 (GRCm39)	M63K	possibly damaging	Het
Mtbp	T	A	15: 55,434,723 (GRCm39)	F298L	possibly damaging	Het
Muc4	A	G	16: 32,574,480 (GRCm39)	T977A	probably benign	Het
Nebl	G	A	2: 17,408,998 (GRCm39)	H367Y	probably benign	Het
Nop58	T	A	1: 59,743,824 (GRCm39)	Y274*	probably null	Het
Nuak1	T	A	10: 84,210,666 (GRCm39)	Q474L	probably damaging	Het
Obscn	A	G	11: 58,889,331 (GRCm39)	S7523P	unknown	Het
Oosp3	T	A	19: 11,682,753 (GRCm39)	D140E	probably benign	Het
Or52z15	T	A	7: 103,332,680 (GRCm39)	C242S	probably damaging	Het
Padi2	G	A	4: 140,644,952 (GRCm39)	R62H	probably benign	Het
Patl1	A	G	19: 11,917,136 (GRCm39)	N661S	probably benign	Het
Pcyox1l	G	T	18: 61,831,544 (GRCm39)	N238K	probably benign	Het
Pmch	A	G	10: 87,927,011 (GRCm39)	T5A	probably benign	Het
Polr3h	A	G	15: 81,800,835 (GRCm39)	L169P	probably damaging	Het
Ptpn4	A	G	1: 119,615,453 (GRCm39)	V567A	probably damaging	Het
Rasgrp2	T	G	19: 6,452,543 (GRCm39)	F39V	probably damaging	Het
Setd1b	G	A	5: 123,296,815 (GRCm39)		probably benign	Het
Sh3glb2	A	T	2: 30,240,401 (GRCm39)		probably null	Het
Slc46a3	A	T	5: 147,830,700 (GRCm39)	N44K	probably benign	Het
Slc9b1	T	A	3: 135,099,756 (GRCm39)	N425K	probably benign	Het
Slfn14	A	T	11: 83,170,288 (GRCm39)	V452E	probably damaging	Het
Slfn8	A	T	11: 82,894,161 (GRCm39)	M826K	probably benign	Het
Slit3	G	A	11: 35,520,578 (GRCm39)	V572M	probably benign	Het
Smr3a	C	A	5: 88,155,873 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,224,194 (GRCm39)	S70P	probably damaging	Het
Svopl	T	A	6: 37,993,949 (GRCm39)		probably benign	Het
Tbc1d17	A	T	7: 44,494,761 (GRCm39)	F186I	probably damaging	Het
Tgm6	T	C	2: 129,983,176 (GRCm39)	V255A	probably damaging	Het
Tjp1	G	T	7: 64,952,600 (GRCm39)	T1498K	probably benign	Het
Tkfc	C	A	19: 10,574,711 (GRCm39)	E176D	probably benign	Het
Tmem102	C	T	11: 69,694,506 (GRCm39)	V489I	probably damaging	Het
Ttn	A	G	2: 76,551,781 (GRCm39)	V22930A	probably damaging	Het
Tyms	A	T	5: 30,278,357 (GRCm39)		probably null	Het
Uaca	T	A	9: 60,748,238 (GRCm39)	D67E	probably damaging	Het
Unc119b	G	A	5: 115,265,508 (GRCm39)		probably benign	Het
Usp29	A	T	7: 6,964,744 (GRCm39)	T196S	probably benign	Het
Usp37	A	G	1: 74,525,141 (GRCm39)	S228P	probably damaging	Het
Usp42	C	A	5: 143,701,270 (GRCm39)	A918S	probably benign	Het
Vmn2r72	T	A	7: 85,387,058 (GRCm39)	L835F	probably benign	Het
Vps13a	T	C	19: 16,637,894 (GRCm39)	T2396A	probably benign	Het
Whrn	A	T	4: 63,412,945 (GRCm39)	S176T	probably damaging	Het
Zbtb42	T	C	12: 112,647,055 (GRCm39)	F410S	probably damaging	Het
Zfp616	T	C	11: 73,973,952 (GRCm39)	S74P	probably damaging	Het
Zswim6	A	G	13: 107,880,642 (GRCm39)		noncoding transcript	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
R2191:Mtmr3	UTSW	11	4,449,032 (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
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'- GCTTTGTCAAGACCTGTCCC -3'
(R):5'- AGGACACTCACTGTTGTCTCCC -3'

Sequencing Primer
(F):5'- GTCTGAAGTCAGCTACAGTGTACTC -3'
(R):5'- GTTGTCTCCCCACAGGCAC -3'

Posted On

2017-02-28