Mutagenetix > Incidental Mutation

Incidental Mutation 'R5861:Tmed6'

453918

Institutional Source

Beutler Lab

Gene Symbol

Tmed6

Ensembl Gene

ENSMUSG00000031919

Gene Name

transmembrane p24 trafficking protein 6

Synonyms

1810015P03Rik, 1810018I24Rik

MMRRC Submission

044073-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5861 (G1)

Quality Score

225

Status

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: 99.4%
10x: 97.3%
20x: 91.3%

Validation Efficiency

98% (81/83)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,218,644 (GRCm39)	T246N	probably damaging	Het
Aopep	A	G	13: 63,446,626 (GRCm39)	D143G	probably damaging	Het
Arhgap10	C	T	8: 78,037,393 (GRCm39)	A612T	probably damaging	Het
Arsg	T	A	11: 109,454,014 (GRCm39)	F407I	probably damaging	Het
Asxl1	C	A	2: 153,241,310 (GRCm39)	A620D	probably damaging	Het
C2cd3	A	G	7: 100,093,682 (GRCm39)		probably benign	Het
Chn2	G	A	6: 54,267,359 (GRCm39)	V92I	probably damaging	Het
Cog2	T	C	8: 125,264,617 (GRCm39)	F332S	probably damaging	Het
Crhbp	G	A	13: 95,580,333 (GRCm39)	A82V	probably damaging	Het
Cyp2j6	A	G	4: 96,434,040 (GRCm39)	V90A	possibly damaging	Het
Dennd4c	A	T	4: 86,709,589 (GRCm39)	M397L	probably benign	Het
Dnajb8	A	G	6: 88,200,088 (GRCm39)	D208G	possibly damaging	Het
Ecm1	G	C	3: 95,643,909 (GRCm39)	L230V	probably damaging	Het
Ercc2	G	C	7: 19,128,066 (GRCm39)	A696P	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm13035	A	G	4: 146,009,859 (GRCm39)		noncoding transcript	Het
Gm28042	T	C	2: 119,865,116 (GRCm39)	V247A	probably damaging	Het
Gm28455	T	A	7: 39,148,003 (GRCm39)		noncoding transcript	Het
Gpr150	A	T	13: 76,204,192 (GRCm39)	V251D	possibly damaging	Het
Grip1	C	T	10: 119,765,875 (GRCm39)	S69L	probably damaging	Het
Hs6st3	A	G	14: 119,376,265 (GRCm39)	I147V	possibly damaging	Het
Il5	G	A	11: 53,614,743 (GRCm39)	E102K	probably benign	Het
Kif1c	T	C	11: 70,594,621 (GRCm39)	F94L	probably damaging	Het
Lrrc63	T	C	14: 75,344,806 (GRCm39)	E427G	possibly damaging	Het
Man1b1	A	G	2: 25,238,066 (GRCm39)	T384A	probably benign	Het
Mapk15	C	A	15: 75,868,208 (GRCm39)		probably benign	Het
Mfsd10	T	C	5: 34,791,588 (GRCm39)		probably benign	Het
Mgat5	C	A	1: 127,315,129 (GRCm39)	A285E	probably damaging	Het
Mroh4	T	A	15: 74,478,456 (GRCm39)		probably benign	Het
Myf5	A	T	10: 107,320,069 (GRCm39)	C194S	probably benign	Het
Myh7	A	G	14: 55,226,347 (GRCm39)	V431A	possibly damaging	Het
Nadsyn1	A	C	7: 143,364,964 (GRCm39)	M247R	possibly damaging	Het
Nipsnap3b	A	G	4: 53,021,177 (GRCm39)	D166G	probably damaging	Het
Nqo2	A	T	13: 34,156,413 (GRCm39)	L42F	probably damaging	Het
Nt5dc3	A	T	10: 86,651,738 (GRCm39)	D180V	probably damaging	Het
Numa1	C	A	7: 101,658,494 (GRCm39)		probably null	Het
Olfm3	T	A	3: 114,916,052 (GRCm39)	L328Q	probably damaging	Het
Or4e1	T	C	14: 52,700,953 (GRCm39)	Y171C	probably damaging	Het
Or5w17	A	T	2: 87,583,922 (GRCm39)	N138K	probably benign	Het
Or7a37	A	T	10: 78,805,765 (GRCm39)	Y94F	probably damaging	Het
Papolb	T	C	5: 142,514,992 (GRCm39)	N217S	possibly damaging	Het
Pcmtd2	C	A	2: 181,484,268 (GRCm39)	T26K	probably damaging	Het
Pld5	T	G	1: 175,917,571 (GRCm39)	N59H	probably damaging	Het
Ppm1d	T	C	11: 85,202,674 (GRCm39)	S126P	possibly damaging	Het
Ppp1r21	T	C	17: 88,889,937 (GRCm39)	L727P	probably damaging	Het
Pramel20	G	T	4: 143,297,810 (GRCm39)	V77L	probably benign	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Rara	T	A	11: 98,858,987 (GRCm39)	C148*	probably null	Het
Rexo2	A	T	9: 48,386,481 (GRCm39)	I83N	probably damaging	Het
Rnf213	A	G	11: 119,364,203 (GRCm39)	R4501G	probably damaging	Het
Rps5	T	A	7: 12,659,501 (GRCm39)	F97L	probably damaging	Het
Sigirr	G	A	7: 140,671,292 (GRCm39)	R397W	probably damaging	Het
Slc6a6	T	C	6: 91,718,014 (GRCm39)	Y318H	probably damaging	Het
Spam1	A	G	6: 24,796,570 (GRCm39)	T174A	probably benign	Het
Stam2	G	T	2: 52,632,116 (GRCm39)		probably benign	Het
Taar7a	T	C	10: 23,868,337 (GRCm39)	E348G	probably benign	Het
Taf11	T	C	17: 28,120,644 (GRCm39)	T209A	probably benign	Het
Tenm4	A	G	7: 96,492,424 (GRCm39)		probably benign	Het
Trim5	G	T	7: 103,928,726 (GRCm39)	H72N	probably benign	Het
Trim5	A	C	7: 103,928,728 (GRCm39)	L71R	probably benign	Het
Uevld	A	T	7: 46,576,104 (GRCm39)	S461T	probably benign	Het
Vmn2r6	T	A	3: 64,463,454 (GRCm39)	N460I	probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zfp316	T	C	5: 143,249,095 (GRCm39)	Y180C	unknown	Het
Zfp941	A	G	7: 140,392,052 (GRCm39)	S436P	probably damaging	Het
Zfp979	G	A	4: 147,697,966 (GRCm39)	Q248*	probably null	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
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'- AGGTCTTTAGTGCCCCATCCTG -3'
(R):5'- AGCATCAGTCCTTGCTGGTTTG -3'

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

Posted On

2017-02-10