Mutagenetix > Incidental Mutation

Incidental Mutation 'R4589:Tmed6'

342684

Institutional Source

Beutler Lab

Gene Symbol

Tmed6

Ensembl Gene

ENSMUSG00000031919

Gene Name

transmembrane p24 trafficking protein 6

Synonyms

1810015P03Rik, 1810018I24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4589 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

107788116-107792276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107790793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 85 (V85I)

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 benign
Transcript: ENSMUST00000034393
AA Change: V85I

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034393
Gene: ENSMUSG00000031919
AA Change: V85I

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	T	16: 14,211,895 (GRCm39)	V157L	probably benign	Het
Actn1	G	A	12: 80,218,573 (GRCm39)	T737I	possibly damaging	Het
Ada	T	C	2: 163,574,868 (GRCm39)	K90E	possibly damaging	Het
Ap2b1	T	A	11: 83,223,837 (GRCm39)	L184*	probably null	Het
Arfgef3	T	C	10: 18,521,947 (GRCm39)	D693G	probably damaging	Het
Arid4a	A	T	12: 71,116,738 (GRCm39)	I277F	probably damaging	Het
Armh4	A	G	14: 50,011,039 (GRCm39)	S223P	probably damaging	Het
Ccdc171	A	G	4: 83,467,855 (GRCm39)	S67G	probably benign	Het
Ccr5	T	A	9: 123,924,539 (GRCm39)	F47L	probably benign	Het
Clip4	T	A	17: 72,117,862 (GRCm39)	C302*	probably null	Het
Cyth1	C	T	11: 118,075,811 (GRCm39)	V142I	possibly damaging	Het
Ddx59	T	A	1: 136,367,480 (GRCm39)		probably null	Het
Def6	G	T	17: 28,447,121 (GRCm39)	R584L	probably benign	Het
Dnah7c	C	A	1: 46,553,743 (GRCm39)	Y340*	probably null	Het
Eif2ak4	T	G	2: 118,247,819 (GRCm39)	C173W	probably damaging	Het
Gm14403	C	T	2: 177,200,428 (GRCm39)	H125Y	probably benign	Het
Grk3	T	C	5: 113,089,584 (GRCm39)	I323V	possibly damaging	Het
Homez	G	T	14: 55,094,487 (GRCm39)	T407K	probably damaging	Het
Igdcc4	A	G	9: 65,037,910 (GRCm39)	T763A	probably damaging	Het
Ighg2b	A	T	12: 113,270,104 (GRCm39)	W305R	unknown	Het
Il27ra	G	T	8: 84,763,038 (GRCm39)	N296K	probably damaging	Het
Lzic	G	T	4: 149,572,561 (GRCm39)	L50F	probably damaging	Het
Mbtd1	T	C	11: 93,812,245 (GRCm39)	V183A	probably damaging	Het
Mme	T	A	3: 63,287,693 (GRCm39)	D731E	probably benign	Het
Mocos	T	C	18: 24,787,095 (GRCm39)	L38P	probably damaging	Het
Mrps18a	T	C	17: 46,428,899 (GRCm39)		probably null	Het
Msh2	T	A	17: 87,987,460 (GRCm39)	V200D	possibly damaging	Het
Mug1	A	T	6: 121,834,310 (GRCm39)	I364F	probably benign	Het
Mycbp2	G	T	14: 103,414,749 (GRCm39)	S2554R	probably benign	Het
Nat10	A	G	2: 103,584,415 (GRCm39)	C121R	probably damaging	Het
Nfatc3	T	A	8: 106,805,705 (GRCm39)	D183E	probably damaging	Het
Odr4	C	T	1: 150,260,238 (GRCm39)	V127I	probably benign	Het
Or4d10c	T	C	19: 12,065,305 (GRCm39)	I284V	possibly damaging	Het
Or51ac3	A	T	7: 103,213,639 (GRCm39)	F282L	probably damaging	Het
Or52h1	C	A	7: 103,828,636 (GRCm39)		probably null	Het
Or5d14	T	C	2: 87,880,823 (GRCm39)	I48M	probably benign	Het
Pak6	T	A	2: 118,527,021 (GRCm39)	I672K	probably damaging	Het
Pan3	A	T	5: 147,479,983 (GRCm39)	I830F	probably damaging	Het
Pcdh9	A	T	14: 94,125,628 (GRCm39)	L181I	probably damaging	Het
Pigg	G	A	5: 108,480,556 (GRCm39)	A447T	probably benign	Het
Pitpnb	T	A	5: 111,519,214 (GRCm39)	S165T	probably damaging	Het
Pla2g2a	A	G	4: 138,560,590 (GRCm39)	Y67C	probably damaging	Het
Plch1	A	G	3: 63,688,928 (GRCm39)	I80T	probably damaging	Het
Pnma1	A	G	12: 84,194,235 (GRCm39)	I156T	probably benign	Het
Prss21	G	T	17: 24,091,796 (GRCm39)	D255Y	possibly damaging	Het
Prune1	T	A	3: 95,169,642 (GRCm39)	I187F	possibly damaging	Het
Rab7b	T	C	1: 131,633,385 (GRCm39)	F78L	probably benign	Het
Riok3	T	A	18: 12,269,844 (GRCm39)	Y92N	probably benign	Het
Rpap2	T	C	5: 107,768,361 (GRCm39)	S400P	probably benign	Het
Ryr3	C	A	2: 112,705,478 (GRCm39)	G792V	probably damaging	Het
Septin3	A	G	15: 82,170,092 (GRCm39)	E206G	probably damaging	Het
Stkld1	T	C	2: 26,840,679 (GRCm39)	S454P	probably damaging	Het
Tdh	A	T	14: 63,733,326 (GRCm39)	L140Q	probably damaging	Het
Tex15	T	A	8: 34,047,401 (GRCm39)	H159Q	probably damaging	Het
Vmn1r174	T	A	7: 23,454,204 (GRCm39)	L290*	probably null	Het
Vmn1r31	A	G	6: 58,449,596 (GRCm39)	S90P	probably damaging	Het
Vmn2r55	T	C	7: 12,404,822 (GRCm39)	T194A	probably damaging	Het
Vmn2r82	A	T	10: 79,192,548 (GRCm39)	I42F	probably damaging	Het
Vps35	G	A	8: 86,014,331 (GRCm39)	P106L	probably damaging	Het
Xrcc6	T	A	15: 81,906,661 (GRCm39)	Y69N	probably damaging	Het
Zbtb14	C	T	17: 69,695,465 (GRCm39)	P388S	probably damaging	Het
Zfp541	C	T	7: 15,817,261 (GRCm39)	A902V	probably benign	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
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
R5862: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'- AGGTCTTTAGTGCCCCATCC -3'
(R):5'- AGCATCAGTCCTTGCTGGTTTG -3'

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

Posted On

2015-09-24