Mutagenetix > Incidental Mutation

Incidental Mutation 'R7784:Mtmr6'

599468

Institutional Source

Beutler Lab

Gene Symbol

Mtmr6

Ensembl Gene

ENSMUSG00000021987

Gene Name

myotubularin related protein 6

Synonyms

Gm38641, 4022440C11Rik

MMRRC Submission

045840-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60502677-60539819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60537894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 593 (D593G)

Ref Sequence

ENSEMBL: ENSMUSP00000022563 (fasta)

Gene Model

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

AlphaFold

Q8VE11

Predicted Effect

probably benign
Transcript: ENSMUST00000022563
AA Change: D593G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022563
Gene: ENSMUSG00000021987
AA Change: D593G

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

probably benign
Transcript: ENSMUST00000224366
AA Change: D631G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,119,638 (GRCm39)		probably null	Het
3425401B19Rik	A	T	14: 32,381,797 (GRCm39)	S1389R	probably benign	Het
Abca9	A	T	11: 110,045,243 (GRCm39)	C363*	probably null	Het
Actbl2	T	A	13: 111,391,945 (GRCm39)	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,223,197 (GRCm39)	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,739,510 (GRCm39)	W653*	probably null	Het
Akap13	T	A	7: 75,260,076 (GRCm39)	V97D	probably benign	Het
Cacna1d	T	A	14: 29,845,396 (GRCm39)	D613V	probably damaging	Het
Col10a1	C	A	10: 34,270,214 (GRCm39)	P62H	unknown	Het
Cpb2	A	T	14: 75,512,480 (GRCm39)	N298Y	probably damaging	Het
Ddc	A	G	11: 11,789,396 (GRCm39)		probably null	Het
Ddx6	T	C	9: 44,541,439 (GRCm39)		probably null	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Eps8	T	A	6: 137,476,585 (GRCm39)	I605L	probably benign	Het
Eps8l1	T	C	7: 4,475,121 (GRCm39)	L304P	probably damaging	Het
Erbb4	T	A	1: 68,114,658 (GRCm39)	I929F	probably damaging	Het
Erc2	A	T	14: 27,620,551 (GRCm39)	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,479,187 (GRCm39)	D355N		Het
Ffar2	T	C	7: 30,518,683 (GRCm39)	K286E	probably benign	Het
Gabrd	A	G	4: 155,473,389 (GRCm39)		probably null	Het
Ganc	G	A	2: 120,267,149 (GRCm39)	W488*	probably null	Het
Ifi207	T	A	1: 173,557,698 (GRCm39)	M347L	unknown	Het
Kat6b	A	T	14: 21,710,909 (GRCm39)	I619F	probably damaging	Het
Kif26a	A	G	12: 112,144,581 (GRCm39)	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,837,320 (GRCm39)		probably null	Het
Krt39	A	T	11: 99,411,857 (GRCm39)	C76*	probably null	Het
Lcmt1	G	T	7: 123,000,718 (GRCm39)	R84L	probably benign	Het
Lrit1	A	G	14: 36,783,737 (GRCm39)	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,512,397 (GRCm39)		probably null	Het
Med23	C	T	10: 24,778,346 (GRCm39)	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,959,517 (GRCm39)		probably null	Het
Myo15b	G	A	11: 115,752,166 (GRCm39)	V683M		Het
Neb	T	A	2: 52,125,500 (GRCm39)	M506L		Het
Or12d13	T	C	17: 37,647,469 (GRCm39)	Y218C	probably benign	Het
Or12d13	A	G	17: 37,647,946 (GRCm39)	F59S	probably damaging	Het
Or2a20	T	A	6: 43,194,322 (GRCm39)	H158Q	possibly damaging	Het
Or9m1	G	A	2: 87,733,537 (GRCm39)	T161I	probably benign	Het
Pdzd8	A	G	19: 59,316,295 (GRCm39)	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,377,544 (GRCm39)	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 92,044,201 (GRCm39)	T350A		Het
Rbp3	A	T	14: 33,676,115 (GRCm39)	H21L	probably benign	Het
Rp1	C	A	1: 4,212,881 (GRCm39)	V1069F	unknown	Het
Rtn4	T	A	11: 29,691,048 (GRCm39)	L1113*	probably null	Het
Ryr3	A	G	2: 112,606,040 (GRCm39)	F2407L	probably damaging	Het
Septin2	T	A	1: 93,425,166 (GRCm39)	D107E	probably damaging	Het
Septin4	A	G	11: 87,469,834 (GRCm39)	T7A	probably benign	Het
Slc34a3	T	A	2: 25,122,237 (GRCm39)	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,639,936 (GRCm39)	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,889,114 (GRCm39)	E66V	probably damaging	Het
Slco1a7	C	T	6: 141,658,919 (GRCm39)		probably null	Het
Sp140l2	T	A	1: 85,190,195 (GRCm39)		probably null	Het
Spata33	A	G	8: 123,939,991 (GRCm39)	R68G	unknown	Het
Spta1	G	A	1: 174,030,017 (GRCm39)	D928N	probably damaging	Het
St8sia5	A	G	18: 77,342,246 (GRCm39)	S319G	probably benign	Het
Tmem208	A	G	8: 106,055,465 (GRCm39)	D149G	possibly damaging	Het
Trank1	A	T	9: 111,193,171 (GRCm39)	I583F	probably damaging	Het
Trio	C	T	15: 27,764,080 (GRCm39)	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,654,141 (GRCm39)	Q207*	probably null	Het
Tshr	A	G	12: 91,472,079 (GRCm39)	D143G	probably benign	Het
Txlna	C	T	4: 129,525,950 (GRCm39)	R299H	probably damaging	Het
Ush2a	A	T	1: 188,176,789 (GRCm39)	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,642,660 (GRCm39)	K186R	probably damaging	Het
Vars2	C	T	17: 35,969,050 (GRCm39)	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp775	A	G	6: 48,596,183 (GRCm39)	Q19R	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
R6489:Mtmr6	UTSW	14	60,537,963 (GRCm39)	missense	possibly damaging	0.93
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
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'- AGATCGATCACCTGTTAGCTG -3'
(R):5'- TTACTGCTAAGCCCCAAAGTC -3'

Sequencing Primer
(F):5'- ATCGATCACCTGTTAGCTGTAGTTAC -3'
(R):5'- GTCACTCAACAACCCCTCCTG -3'

Posted On

2019-11-26