Mutagenetix > Incidental Mutation

Incidental Mutation 'R5862:Tmed6'

453968

Institutional Source

Beutler Lab

Gene Symbol

Tmed6

Ensembl Gene

ENSMUSG00000031919

Gene Name

transmembrane p24 trafficking protein 6

Synonyms

1810015P03Rik, 1810018I24Rik

MMRRC Submission

043231-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5862 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

107788116-107792276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107790786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 87 (T87K)

Ref Sequence

ENSEMBL: ENSMUSP00000034393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034392] [ENSMUST00000034393]

AlphaFold

Q9CQG0

Predicted Effect

probably benign
Transcript: ENSMUST00000034392

SMART Domains

Protein: ENSMUSP00000034392
Gene: ENSMUSG00000031917

Domain	Start	End	E-Value	Type
PUA	95	170	4.36e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000034393
AA Change: T87K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034393
Gene: ENSMUSG00000031919
AA Change: T87K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
EMP24_GP25L	43	228	1.87e-39	SMART

Meta Mutation Damage Score

0.1336

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,615,895 (GRCm39)	Y326H	probably damaging	Het
Alpk2	T	A	18: 65,440,360 (GRCm39)	K811N	probably damaging	Het
Ap3b1	T	A	13: 94,684,278 (GRCm39)	M1014K	unknown	Het
Bphl	G	A	13: 34,247,967 (GRCm39)	V247I	possibly damaging	Het
C6	A	T	15: 4,764,745 (GRCm39)	D147V	possibly damaging	Het
Clec18a	G	A	8: 111,808,190 (GRCm39)	H71Y	possibly damaging	Het
Cse1l	A	G	2: 166,757,127 (GRCm39)	T10A	probably benign	Het
Cyp2b9	G	T	7: 25,887,232 (GRCm39)	G214C	probably benign	Het
Dctn6	A	T	8: 34,575,571 (GRCm39)		probably null	Het
Dnaja4	G	T	9: 54,606,625 (GRCm39)		probably benign	Het
Dpp8	A	T	9: 64,953,004 (GRCm39)	S227C	probably benign	Het
Ecel1	T	C	1: 87,077,318 (GRCm39)	N630S	probably benign	Het
Etnppl	T	C	3: 130,425,473 (GRCm39)	V426A	possibly damaging	Het
Golgb1	A	T	16: 36,746,453 (GRCm39)		silent	Het
Hapln3	A	T	7: 78,771,639 (GRCm39)	H83Q	possibly damaging	Het
Hmgxb4	A	G	8: 75,727,683 (GRCm39)	K222R	probably damaging	Het
Hsf5	C	A	11: 87,513,817 (GRCm39)	T294K	probably damaging	Het
Ighv12-2	A	G	12: 114,091,557 (GRCm39)		noncoding transcript	Het
Lrch3	A	T	16: 32,816,179 (GRCm39)	H587L	probably damaging	Het
Macroh2a1	T	A	13: 56,222,084 (GRCm39)	I359L	probably damaging	Het
Mboat1	C	T	13: 30,419,680 (GRCm39)	T339M	probably damaging	Het
Mief1	G	A	15: 80,132,586 (GRCm39)	R156Q	probably benign	Het
Ms4a6b	T	A	19: 11,499,167 (GRCm39)	F94I	probably benign	Het
Neb	T	A	2: 52,069,554 (GRCm39)	R307*	probably null	Het
Neu4	A	G	1: 93,950,652 (GRCm39)	I147V	probably benign	Het
Or5m9b	T	C	2: 85,905,990 (GRCm39)	I302T	probably benign	Het
Pcyox1	A	G	6: 86,368,656 (GRCm39)		probably null	Het
Pik3ap1	T	A	19: 41,320,784 (GRCm39)	D145V	probably damaging	Het
Pja2	T	C	17: 64,604,821 (GRCm39)	D454G	probably benign	Het
Plekhg1	C	T	10: 3,887,914 (GRCm39)	T281M	probably damaging	Het
Ptprq	T	C	10: 107,401,739 (GRCm39)	I1918V	probably benign	Het
Rasgef1a	A	C	6: 118,057,405 (GRCm39)	R35S	probably benign	Het
Rnf167	A	G	11: 70,541,918 (GRCm39)	T308A	probably damaging	Het
Sfmbt2	C	T	2: 10,406,863 (GRCm39)	T54I	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shkbp1	G	T	7: 27,042,829 (GRCm39)	S536*	probably null	Het
Taf2	C	A	15: 54,911,719 (GRCm39)	V566L	possibly damaging	Het
Tyms	A	T	5: 30,268,408 (GRCm39)	D97E	probably damaging	Het
Usp20	T	A	2: 30,896,461 (GRCm39)	L188*	probably null	Het
Zbtb10	T	A	3: 9,330,276 (GRCm39)	S545T	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	Het

Other mutations in Tmed6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02447:Tmed6	APN	8	107,792,240 (GRCm39)	missense	possibly damaging	0.85
FR4589:Tmed6	UTSW	8	107,788,230 (GRCm39)	nonsense	probably null
R0077:Tmed6	UTSW	8	107,792,198 (GRCm39)	missense	probably damaging	0.98
R0653:Tmed6	UTSW	8	107,792,283 (GRCm39)	splice site	probably null
R0718:Tmed6	UTSW	8	107,788,356 (GRCm39)	missense	probably damaging	1.00
R0750:Tmed6	UTSW	8	107,788,401 (GRCm39)	missense	possibly damaging	0.87
R1497:Tmed6	UTSW	8	107,790,754 (GRCm39)	missense	probably benign	0.05
R3016:Tmed6	UTSW	8	107,792,069 (GRCm39)	missense	probably damaging	1.00
R4589:Tmed6	UTSW	8	107,790,793 (GRCm39)	missense	probably benign	0.31
R4754:Tmed6	UTSW	8	107,790,362 (GRCm39)	missense	probably damaging	0.99
R5860:Tmed6	UTSW	8	107,790,786 (GRCm39)	missense	probably damaging	1.00
R5861:Tmed6	UTSW	8	107,790,786 (GRCm39)	missense	probably damaging	1.00
R5941:Tmed6	UTSW	8	107,790,786 (GRCm39)	missense	probably damaging	1.00
R6177:Tmed6	UTSW	8	107,792,083 (GRCm39)	missense	probably damaging	0.98
R6225:Tmed6	UTSW	8	107,788,371 (GRCm39)	missense	probably damaging	0.98
R8869:Tmed6	UTSW	8	107,792,164 (GRCm39)	missense	probably damaging	0.98
R9042:Tmed6	UTSW	8	107,790,385 (GRCm39)	missense	probably benign	0.39
R9183:Tmed6	UTSW	8	107,788,390 (GRCm39)	nonsense	probably null
RF034:Tmed6	UTSW	8	107,788,228 (GRCm39)	frame shift	probably null
RF043:Tmed6	UTSW	8	107,788,228 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CAGGTCTTTAGTGCCCCATC -3'
(R):5'- AGATACAGCATCAGTCCTTGC -3'

Sequencing Primer
(F):5'- CTGGCCTTGAACTGACCAAGATATG -3'
(R):5'- CAGGCTGGTCTCAAACTCAG -3'

Posted On

2017-02-10