Mutagenetix > Incidental Mutation

Incidental Mutation 'R1777:Mtmr4'

197151

Institutional Source

Beutler Lab

Gene Symbol

Mtmr4

Ensembl Gene

ENSMUSG00000018401

Gene Name

myotubularin related protein 4

Synonyms

ZFYVE11, FYVE zinc finger phosphatase, ESTM44, FYVE-DSP2

MMRRC Submission

039808-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R1777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87602830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 305 (K305E)

Ref Sequence

ENSEMBL: ENSMUSP00000112902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092802] [ENSMUST00000103179] [ENSMUST00000119628] [ENSMUST00000134216] [ENSMUST00000146871]

AlphaFold

Q91XS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000092802
AA Change: K305E

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

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: K305E

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	126	507	4.2e-137	PFAM
low complexity region	933	945	N/A	INTRINSIC
coiled coil region	961	991	N/A	INTRINSIC
FYVE	1044	1113	2.08e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000103179
AA Change: K305E

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

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: K305E

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	126	521	8.1e-149	PFAM
low complexity region	990	1002	N/A	INTRINSIC
coiled coil region	1018	1048	N/A	INTRINSIC
FYVE	1101	1170	2.08e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119628
AA Change: K305E

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

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: K305E

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	127	519	1.5e-135	PFAM
low complexity region	990	1002	N/A	INTRINSIC
coiled coil region	1018	1048	N/A	INTRINSIC
FYVE	1101	1170	2.08e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134216

SMART Domains

Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	140	204	6.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146871

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	T	A	1: 16,078,589	D111V	possibly damaging	Het
Ap2a1	G	A	7: 44,904,152	T597M	probably damaging	Het
Arhgap25	A	G	6: 87,463,307	S364P	probably benign	Het
Atp6v1a	G	T	16: 44,114,705	Y40*	probably null	Het
Cdh1	T	A	8: 106,656,835	H235Q	probably damaging	Het
Cntln	A	G	4: 85,130,679	E1376G	probably benign	Het
Cntnap5b	T	A	1: 100,370,078	S781T	probably benign	Het
Cpne4	A	G	9: 104,872,688	T64A	probably damaging	Het
Ctsg	T	C	14: 56,100,601	Y179C	probably damaging	Het
Cx3cr1	A	G	9: 120,051,593	Y248H	probably damaging	Het
Dhx37	T	C	5: 125,429,931	E167G	probably benign	Het
Dnajc21	C	A	15: 10,449,607	A443S	probably benign	Het
Drd5	T	C	5: 38,320,161	S166P	probably damaging	Het
Dscaml1	T	C	9: 45,683,756	L719P	possibly damaging	Het
Eif2ak4	T	C	2: 118,430,839	I542T	probably damaging	Het
Ephb3	G	A	16: 21,217,235	G291E	probably damaging	Het
Eva1a	T	A	6: 82,092,156	Y155N	probably damaging	Het
Exog	C	T	9: 119,449,818	P189L	probably damaging	Het
Fam13b	A	G	18: 34,457,760	V455A	possibly damaging	Het
Fam192a	T	C	8: 94,588,811	E31G	probably damaging	Het
Fam35a	C	A	14: 34,268,173	V259L	probably benign	Het
Fmn2	C	A	1: 174,581,922	Q574K	unknown	Het
Gm10037	A	T	13: 67,833,865	R65S	probably benign	Het
Gm6871	A	T	7: 41,545,719	S531R	probably benign	Het
Golga2	T	A	2: 32,305,470		probably null	Het
Hydin	C	T	8: 110,589,571	P4365L	probably benign	Het
Ints8	A	T	4: 11,225,600		probably null	Het
Kbtbd12	A	C	6: 88,618,060	S263A	probably benign	Het
Kcng4	T	C	8: 119,633,487	D50G	probably benign	Het
Klhl18	A	T	9: 110,437,401	C217S	probably benign	Het
Klk1b4	A	G	7: 44,207,451		probably benign	Het
Klk7	G	A	7: 43,813,329	C186Y	probably damaging	Het
Krit1	T	C	5: 3,836,799	Y635H	probably damaging	Het
Lipo4	A	T	19: 33,499,321	D342E	probably damaging	Het
Lsm14b	T	G	2: 180,031,795	D199E	probably benign	Het
Map3k4	A	T	17: 12,271,730	N271K	possibly damaging	Het
Mast1	T	A	8: 84,912,068	N1544I	probably benign	Het
Megf6	T	A	4: 154,270,690	C1487*	probably null	Het
Mlh3	C	A	12: 85,268,754	K219N	possibly damaging	Het
Myo15	A	G	11: 60,514,936	M3105V	probably benign	Het
Nbas	A	T	12: 13,513,562	I1958F	probably benign	Het
Nepro	A	T	16: 44,735,853	Q458L	probably damaging	Het
Olfr1309	T	A	2: 111,983,697	I126L	possibly damaging	Het
Olfr198	A	G	16: 59,202,016	S137P	probably benign	Het
Olfr295	T	A	7: 86,586,064	I263N	probably benign	Het
Olfr583	T	C	7: 103,051,376	I26T	probably benign	Het
Olfr741	T	A	14: 50,486,300	F281I	probably benign	Het
Olfr874	A	G	9: 37,746,311	Y59C	possibly damaging	Het
Opa3	T	C	7: 19,244,912	Y101H	probably damaging	Het
Pate3	T	C	9: 35,648,116	N2D	probably benign	Het
Pcdhb21	T	A	18: 37,515,718	D633E	possibly damaging	Het
Pgm1	C	T	5: 64,127,782	P589L	probably benign	Het
Pigg	T	A	5: 108,317,391	D163E	probably damaging	Het
Polq	A	G	16: 37,060,224	T638A	possibly damaging	Het
Prmt3	T	A	7: 49,798,346	M268K	possibly damaging	Het
Prmt9	T	C	8: 77,565,108	C370R	probably benign	Het
Prss57	A	T	10: 79,787,385	V76E	possibly damaging	Het
Pzp	T	C	6: 128,490,572	E1089G	possibly damaging	Het
Qars	T	A	9: 108,508,201		probably null	Het
Ralgapb	T	C	2: 158,462,195	Y625H	probably damaging	Het
Rgl2	G	A	17: 33,931,744	D59N	probably benign	Het
Robo1	T	G	16: 73,004,667	W1060G	probably benign	Het
Scaper	A	T	9: 55,864,546	V362E	probably benign	Het
Schip1	T	C	3: 68,617,684	F131S	probably damaging	Het
Sh2b2	A	T	5: 136,227,422	V252D	probably damaging	Het
Slc17a6	A	T	7: 51,646,209	H199L	possibly damaging	Het
Slc29a1	A	G	17: 45,587,308	Y325H	probably damaging	Het
Slc29a4	G	T	5: 142,714,062	W156L	probably damaging	Het
Slc5a3	T	A	16: 92,077,756	S234T	probably benign	Het
Srd5a3	T	G	5: 76,149,783	V20G	probably damaging	Het
Stac	A	T	9: 111,604,082	S223T	possibly damaging	Het
Sytl2	A	T	7: 90,403,052	T766S	probably benign	Het
Tas2r102	A	G	6: 132,762,291	D54G	probably benign	Het
Tbpl1	A	G	10: 22,707,843	V105A	probably damaging	Het
Tenm3	G	T	8: 48,417,179	P193Q	probably benign	Het
Tes	G	A	6: 17,104,755	V403M	probably benign	Het
Tgfbr2	A	C	9: 116,109,880	I318S	probably damaging	Het
Tgfbr3	C	A	5: 107,136,930	V618L	probably benign	Het
Tmc1	C	T	19: 20,816,109		probably null	Het
Tmem132a	G	A	19: 10,858,506	H887Y	probably damaging	Het
Tmem43	C	A	6: 91,477,330	S33*	probably null	Het
Tob1	A	G	11: 94,213,754	K39E	probably damaging	Het
Unc79	T	A	12: 103,112,455	D1433E	probably damaging	Het
Usp25	T	C	16: 77,081,554	M622T	probably damaging	Het
Vmn1r158	A	T	7: 22,790,430	L118Q	probably damaging	Het
Vmn1r217	T	A	13: 23,114,325	I136L	probably benign	Het
Vmn2r15	A	T	5: 109,294,270	I99K	possibly damaging	Het
Vwa7	T	A	17: 35,024,948	V786E	probably damaging	Het
Xkr5	A	G	8: 18,939,132	F248S	probably benign	Het
Zcchc6	A	T	13: 59,791,821	H705Q	probably damaging	Het
Zzef1	A	T	11: 72,910,272	K2444M	probably damaging	Het

Other mutations in Mtmr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Mtmr4	APN	11	87611924	missense	probably benign	0.29
IGL01134:Mtmr4	APN	11	87604067	missense	probably damaging	1.00
IGL01317:Mtmr4	APN	11	87602404	unclassified	probably benign
IGL01544:Mtmr4	APN	11	87597611	splice site	probably benign
IGL01574:Mtmr4	APN	11	87600647	missense	probably benign	0.01
IGL01807:Mtmr4	APN	11	87604150	missense	possibly damaging	0.55
IGL02059:Mtmr4	APN	11	87601124	missense	possibly damaging	0.66
IGL03049:Mtmr4	APN	11	87614234	missense	probably damaging	1.00
IGL03196:Mtmr4	APN	11	87600783	missense	possibly damaging	0.92
IGL03214:Mtmr4	APN	11	87597693	missense	probably damaging	1.00
IGL03258:Mtmr4	APN	11	87612003	missense	possibly damaging	0.63
Hippie	UTSW	11	87613483	missense	probably damaging	1.00
incharge	UTSW	11	87611042	nonsense	probably null
PIT4802001:Mtmr4	UTSW	11	87611127	missense	probably benign
R0009:Mtmr4	UTSW	11	87611508	missense	probably benign	0.02
R0564:Mtmr4	UTSW	11	87598888	missense	probably damaging	1.00
R0637:Mtmr4	UTSW	11	87611064	missense	probably benign	0.30
R0780:Mtmr4	UTSW	11	87611440	missense	probably benign	0.03
R1490:Mtmr4	UTSW	11	87612225	missense	probably damaging	1.00
R1550:Mtmr4	UTSW	11	87613516	missense	probably damaging	1.00
R1828:Mtmr4	UTSW	11	87612117	missense	probably benign	0.26
R2040:Mtmr4	UTSW	11	87605090	missense	probably damaging	1.00
R2088:Mtmr4	UTSW	11	87610967	missense	probably damaging	0.98
R2497:Mtmr4	UTSW	11	87600823	missense	probably damaging	1.00
R2993:Mtmr4	UTSW	11	87604997	missense	probably damaging	1.00
R3857:Mtmr4	UTSW	11	87597262	missense	probably damaging	0.98
R3858:Mtmr4	UTSW	11	87597262	missense	probably damaging	0.98
R4614:Mtmr4	UTSW	11	87610935	missense	probably damaging	0.99
R4615:Mtmr4	UTSW	11	87610935	missense	probably damaging	0.99
R4616:Mtmr4	UTSW	11	87610935	missense	probably damaging	0.99
R4816:Mtmr4	UTSW	11	87604097	missense	probably damaging	1.00
R5454:Mtmr4	UTSW	11	87611042	nonsense	probably null
R5502:Mtmr4	UTSW	11	87614078	missense	probably damaging	1.00
R5566:Mtmr4	UTSW	11	87604530	missense	probably damaging	1.00
R5833:Mtmr4	UTSW	11	87605049	nonsense	probably null
R5907:Mtmr4	UTSW	11	87612050	missense	probably damaging	0.99
R5980:Mtmr4	UTSW	11	87604151	missense	probably damaging	1.00
R6077:Mtmr4	UTSW	11	87611019	missense	probably damaging	1.00
R6434:Mtmr4	UTSW	11	87613483	missense	probably damaging	1.00
R6521:Mtmr4	UTSW	11	87613527	missense	possibly damaging	0.86
R7141:Mtmr4	UTSW	11	87600613	missense	probably damaging	1.00
R7182:Mtmr4	UTSW	11	87604605	critical splice donor site	probably null
R7290:Mtmr4	UTSW	11	87611237	missense	probably benign
R7350:Mtmr4	UTSW	11	87600650	missense	probably damaging	0.98
R7392:Mtmr4	UTSW	11	87604557	missense	probably damaging	1.00
R7447:Mtmr4	UTSW	11	87611901	missense	probably damaging	1.00
R7530:Mtmr4	UTSW	11	87611876	missense	probably damaging	1.00
R7660:Mtmr4	UTSW	11	87604580	missense	probably damaging	0.99
R7713:Mtmr4	UTSW	11	87597724	missense	probably damaging	1.00
R7823:Mtmr4	UTSW	11	87612189	missense	probably damaging	1.00
R7944:Mtmr4	UTSW	11	87604428	missense	probably damaging	1.00
R7945:Mtmr4	UTSW	11	87604428	missense	probably damaging	1.00
R8010:Mtmr4	UTSW	11	87598864	missense	probably damaging	1.00
R8116:Mtmr4	UTSW	11	87611930	nonsense	probably null
R8544:Mtmr4	UTSW	11	87611909	missense	possibly damaging	0.86
R8559:Mtmr4	UTSW	11	87604124	missense	probably damaging	1.00
R8971:Mtmr4	UTSW	11	87602800	missense	probably benign	0.13
R9562:Mtmr4	UTSW	11	87602415	missense	probably damaging	1.00
R9673:Mtmr4	UTSW	11	87612312	missense	probably damaging	1.00
R9673:Mtmr4	UTSW	11	87614090	missense	probably damaging	1.00
R9797:Mtmr4	UTSW	11	87604136	missense	probably damaging	1.00
X0062:Mtmr4	UTSW	11	87611825	missense	probably damaging	0.99
Z1177:Mtmr4	UTSW	11	87611880	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TCCCTCAGCACTGGGACTAATGATG -3'
(R):5'- ACTCTGACAGCCTTTCAAGGCG -3'

Sequencing Primer
(F):5'- TGAGGCATGTGACACAGATTTC -3'
(R):5'- gctcctaagtgacagaaccc -3'

Posted On

2014-05-23