Mutagenetix > Incidental Mutation

Incidental Mutation 'R6489:Mtmr6'

522686

Institutional Source

Beutler Lab

Gene Symbol

Mtmr6

Ensembl Gene

ENSMUSG00000021987

Gene Name

myotubularin related protein 6

Synonyms

Gm38641, 4022440C11Rik

MMRRC Submission

044621-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6489 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60502677-60539819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60537963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 654 (T654I)

Ref Sequence

ENSEMBL: ENSMUSP00000153403 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022563] [ENSMUST00000224366]

AlphaFold

Q8VE11

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022563
AA Change: T616I

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022563
Gene: ENSMUSG00000021987
AA Change: T616I

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	107	446	1.3e-143	PFAM
coiled coil region	510	548	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224164

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224366
AA Change: T654I

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1808

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.3%
20x: 90.6%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 69,901,145 (GRCm39)	T650A	probably benign	Het
Alkbh7	T	A	17: 57,305,979 (GRCm39)	S127T	probably damaging	Het
Ank3	G	A	10: 69,827,459 (GRCm39)	A565T	probably benign	Het
App	G	T	16: 84,853,408 (GRCm39)	D223E	unknown	Het
Arhgef2	C	A	3: 88,550,321 (GRCm39)	S675R	probably damaging	Het
Atg14	T	C	14: 47,786,480 (GRCm39)	D258G	probably damaging	Het
Calhm5	A	T	10: 33,968,502 (GRCm39)	W184R	probably damaging	Het
Cbr1b	A	T	16: 93,427,286 (GRCm39)		probably null	Het
Ckap2l	T	C	2: 129,111,034 (GRCm39)	D721G	possibly damaging	Het
Cog8	T	C	8: 107,776,933 (GRCm39)	T481A	probably benign	Het
Colec10	C	A	15: 54,325,609 (GRCm39)		probably null	Het
Cplx3	A	T	9: 57,521,009 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,332,389 (GRCm39)		probably benign	Het
Dock1	T	C	7: 134,592,270 (GRCm39)	M935T	probably damaging	Het
Dsg4	T	A	18: 20,604,420 (GRCm39)	N962K	possibly damaging	Het
Dym	T	C	18: 75,213,297 (GRCm39)	V173A	probably benign	Het
Exoc3l4	A	G	12: 111,395,131 (GRCm39)	Y583C	probably damaging	Het
Flnb	G	A	14: 7,867,551 (GRCm38)	V103M	probably damaging	Het
Fzd1	T	A	5: 4,807,336 (GRCm39)	Q82L	probably benign	Het
Gabrr1	A	G	4: 33,162,855 (GRCm39)	I474V	probably benign	Het
Galnt11	G	T	5: 25,469,964 (GRCm39)	W521L	probably damaging	Het
Glb1l3	A	G	9: 26,738,127 (GRCm39)	V420A	probably benign	Het
H1f7	A	T	15: 98,154,888 (GRCm39)	L87*	probably null	Het
Homer2	T	C	7: 81,274,026 (GRCm39)	T57A	probably benign	Het
Ihh	T	A	1: 74,985,670 (GRCm39)	T272S	probably damaging	Het
Il27ra	T	C	8: 84,758,179 (GRCm39)	M524V	probably benign	Het
Mdp1	C	A	14: 55,897,848 (GRCm39)		probably benign	Het
Med12l	A	G	3: 59,164,828 (GRCm39)	K1436R	probably damaging	Het
Megf10	C	T	18: 57,424,879 (GRCm39)	S1006F	probably benign	Het
Miga1	A	T	3: 151,984,645 (GRCm39)	I426N	probably damaging	Het
Nbeal1	A	G	1: 60,370,101 (GRCm39)	S2673G	possibly damaging	Het
Nup93	T	A	8: 95,028,716 (GRCm39)	H193Q	probably benign	Het
Or1e25	T	A	11: 73,494,265 (GRCm39)	N286K	probably damaging	Het
Or4f7	A	C	2: 111,644,405 (GRCm39)	L222W	probably damaging	Het
Or52ae9	T	C	7: 103,389,875 (GRCm39)	N191D	probably benign	Het
Pdcd11	C	T	19: 47,098,191 (GRCm39)	R826C	probably damaging	Het
Pde4dip	G	A	3: 97,662,907 (GRCm39)	R521*	probably null	Het
Phf2	T	C	13: 48,979,658 (GRCm39)	S158G	unknown	Het
Pla2g15	A	G	8: 106,889,826 (GRCm39)	E366G	probably benign	Het
Plekhm2	A	T	4: 141,359,344 (GRCm39)	H494Q	probably damaging	Het
Prpsap2	A	T	11: 61,639,890 (GRCm39)	M87K	probably damaging	Het
Rbm19	T	G	5: 120,258,195 (GRCm39)	S137A	probably benign	Het
Ryr2	T	A	13: 11,848,893 (GRCm39)	I363L	probably benign	Het
Samd9l	T	C	6: 3,376,896 (GRCm39)	T122A	probably benign	Het
Scn4a	G	C	11: 106,240,006 (GRCm39)	D70E	probably benign	Het
Slc12a3	T	A	8: 95,061,632 (GRCm39)	V293D	possibly damaging	Het
Slc6a7	T	C	18: 61,140,615 (GRCm39)	Y139C	probably damaging	Het
Slco2b1	A	T	7: 99,339,762 (GRCm39)	C9*	probably null	Het
Slitrk1	A	T	14: 109,148,735 (GRCm39)	S659T	possibly damaging	Het
Son	T	G	16: 91,452,044 (GRCm39)	S264A	possibly damaging	Het
Svep1	C	A	4: 58,100,066 (GRCm39)	G1326V	probably damaging	Het
Tcf12	A	G	9: 71,922,918 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,645,062 (GRCm39)	V11185A	probably damaging	Het
Ubap2	T	C	4: 41,203,574 (GRCm39)		probably null	Het
Utp15	G	T	13: 98,387,117 (GRCm39)	F434L	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vsnl1	T	G	12: 11,382,219 (GRCm39)		probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zbtb34	A	C	2: 33,301,558 (GRCm39)	S328A	probably damaging	Het
Zdbf2	T	C	1: 63,346,637 (GRCm39)	I1672T	possibly damaging	Het

Other mutations in Mtmr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00837:Mtmr6	APN	14	60,517,666 (GRCm39)	nonsense	probably null
IGL01377:Mtmr6	APN	14	60,519,483 (GRCm39)	nonsense	probably null
IGL02579:Mtmr6	APN	14	60,519,378 (GRCm39)	splice site	probably benign
IGL02598:Mtmr6	APN	14	60,537,953 (GRCm39)	missense	probably damaging	1.00
IGL03007:Mtmr6	APN	14	60,526,984 (GRCm39)	splice site	probably benign
Chilly	UTSW	14	60,529,578 (GRCm39)	splice site	probably null
IGL03046:Mtmr6	UTSW	14	60,529,577 (GRCm39)	critical splice donor site	probably null
R0542:Mtmr6	UTSW	14	60,529,578 (GRCm39)	splice site	probably null
R0577:Mtmr6	UTSW	14	60,534,087 (GRCm39)	missense	possibly damaging	0.67
R1845:Mtmr6	UTSW	14	60,534,184 (GRCm39)	missense	probably damaging	1.00
R1999:Mtmr6	UTSW	14	60,530,856 (GRCm39)	missense	probably damaging	1.00
R2018:Mtmr6	UTSW	14	60,536,441 (GRCm39)	missense	probably benign
R2019:Mtmr6	UTSW	14	60,536,441 (GRCm39)	missense	probably benign
R2078:Mtmr6	UTSW	14	60,529,436 (GRCm39)	splice site	probably null
R2120:Mtmr6	UTSW	14	60,534,108 (GRCm39)	missense	probably damaging	1.00
R3743:Mtmr6	UTSW	14	60,537,747 (GRCm39)	missense	probably benign	0.02
R4739:Mtmr6	UTSW	14	60,529,546 (GRCm39)	missense	probably damaging	1.00
R4946:Mtmr6	UTSW	14	60,517,638 (GRCm39)	missense	possibly damaging	0.95
R5603:Mtmr6	UTSW	14	60,522,450 (GRCm39)	nonsense	probably null
R6056:Mtmr6	UTSW	14	60,535,619 (GRCm39)	missense	probably damaging	1.00
R7438:Mtmr6	UTSW	14	60,537,753 (GRCm39)	missense	probably benign	0.42
R7634:Mtmr6	UTSW	14	60,533,596 (GRCm39)	missense	probably damaging	0.99
R7678:Mtmr6	UTSW	14	60,527,101 (GRCm39)	missense	probably damaging	1.00
R7784:Mtmr6	UTSW	14	60,537,894 (GRCm39)	missense	probably benign	0.04
R8003:Mtmr6	UTSW	14	60,519,544 (GRCm39)	critical splice donor site	probably null
R8721:Mtmr6	UTSW	14	60,527,128 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACGAAGGAGTTGCTGCATG -3'
(R):5'- AATGGCACTTAGCTGACTCACTC -3'

Sequencing Primer
(F):5'- GAGTTGCTGCATGCTGTCCAC -3'
(R):5'- TAGCTGACTCACTCCTCTCAAGAG -3'

Posted On

2018-06-06