Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03007:Mtmr6'

407615

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtmr6

Ensembl Gene

ENSMUSG00000021987

Gene Name

myotubularin related protein 6

Synonyms

Gm38641, 4022440C11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03007

Quality Score

Status

Chromosome

Chromosomal Location

60502677-60539819 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 60526984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153403 (fasta)

Gene Model

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

AlphaFold

Q8VE11

Predicted Effect

probably benign
Transcript: ENSMUST00000022563

SMART Domains

Protein: ENSMUSP00000022563
Gene: ENSMUSG00000021987

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,098,034 (GRCm39)	N144D	possibly damaging	Het
A830031A19Rik	T	C	11: 23,999,248 (GRCm39)		probably benign	Het
Ankfy1	T	C	11: 72,641,347 (GRCm39)	F640S	probably damaging	Het
Asb8	A	G	15: 98,040,615 (GRCm39)	Y16H	probably damaging	Het
Astn1	T	C	1: 158,496,193 (GRCm39)		probably benign	Het
Btbd8	T	A	5: 107,651,542 (GRCm39)	V145E	probably benign	Het
Celf3	A	G	3: 94,394,444 (GRCm39)	T183A	probably benign	Het
Dctn1	T	C	6: 83,159,690 (GRCm39)	V56A	probably damaging	Het
Erbb2	A	C	11: 98,319,819 (GRCm39)		probably benign	Het
Ighv6-4	A	T	12: 114,370,213 (GRCm39)	Y80N	possibly damaging	Het
Igsf9b	T	C	9: 27,244,378 (GRCm39)	S782P	probably damaging	Het
Itsn1	A	T	16: 91,581,050 (GRCm39)		probably benign	Het
Kcnt2	T	A	1: 140,282,245 (GRCm39)	Y77N	possibly damaging	Het
Lig3	T	C	11: 82,680,401 (GRCm39)	F359S	probably damaging	Het
Muc4	C	T	16: 32,570,866 (GRCm39)	S642F	possibly damaging	Het
Ncoa1	T	A	12: 4,389,114 (GRCm39)	I54F	possibly damaging	Het
Nfx1	C	A	4: 40,984,962 (GRCm39)	T362K	probably benign	Het
Ntrk1	T	C	3: 87,690,050 (GRCm39)	S449G	possibly damaging	Het
Odc1	T	A	12: 17,598,811 (GRCm39)	H230Q	probably benign	Het
Or10d4	T	C	9: 39,580,767 (GRCm39)	V138A	possibly damaging	Het
Or10h28	A	G	17: 33,487,857 (GRCm39)	E53G	probably damaging	Het
Or1j19	T	C	2: 36,676,812 (GRCm39)	S92P	probably damaging	Het
Or8d1	C	T	9: 38,766,592 (GRCm39)	T78I	probably damaging	Het
Plekhh2	A	C	17: 84,882,388 (GRCm39)	S665R	possibly damaging	Het
Qpct	T	A	17: 79,378,294 (GRCm39)	F155I	probably damaging	Het
Rcor2	C	A	19: 7,251,718 (GRCm39)	T379K	probably benign	Het
Rint1	A	G	5: 24,020,699 (GRCm39)	N574S	probably benign	Het
Rsbn1	C	T	3: 103,836,195 (GRCm39)	A411V	probably damaging	Het
Sbno2	A	T	10: 79,894,384 (GRCm39)		probably benign	Het
Sptb	A	G	12: 76,668,115 (GRCm39)	S661P	probably damaging	Het
Syn3	A	T	10: 85,900,778 (GRCm39)	M370K	possibly damaging	Het
Tex101	G	A	7: 24,369,906 (GRCm39)		probably benign	Het
Tmem255b	C	T	8: 13,507,066 (GRCm39)	T265I	possibly damaging	Het
Trio	G	T	15: 27,902,828 (GRCm39)	A211D	probably damaging	Het
Zfp638	C	A	6: 83,961,866 (GRCm39)	Q1902K	probably 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
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
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

Posted On

2016-08-02