Mutagenetix > Incidental Mutation

Incidental Mutation 'R9042:Tmed6'

687781

Institutional Source

Beutler Lab

Gene Symbol

Tmed6

Ensembl Gene

ENSMUSG00000031919

Gene Name

transmembrane p24 trafficking protein 6

Synonyms

1810015P03Rik, 1810018I24Rik

MMRRC Submission

068869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9042 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107788116-107792276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107790385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 138 (V138A)

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: V138A

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034393
Gene: ENSMUSG00000031919
AA Change: V138A

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

0.3101

Coding Region Coverage

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

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	G	15: 11,152,134 (GRCm39)	K208R	probably benign	Het
Amh	T	C	10: 80,642,443 (GRCm39)	M242T	possibly damaging	Het
Anpep	T	C	7: 79,488,510 (GRCm39)	Y440C	probably damaging	Het
Atf7ip	G	T	6: 136,538,263 (GRCm39)	E499*	probably null	Het
Clasp2	A	G	9: 113,735,065 (GRCm39)	I967V	probably benign	Het
Cpa6	T	C	1: 10,407,515 (GRCm39)	T341A	probably benign	Het
Cyp26b1	T	A	6: 84,553,590 (GRCm39)	Y263F	probably benign	Het
Ecm2	C	A	13: 49,682,439 (GRCm39)	Y489*	probably null	Het
Gpr22	C	A	12: 31,759,853 (GRCm39)	V90L	probably benign	Het
Grip1	G	A	10: 119,836,438 (GRCm39)	V516M	probably benign	Het
Ipo5	C	T	14: 121,160,547 (GRCm39)	S188L	probably benign	Het
Kcnh6	T	A	11: 105,908,464 (GRCm39)	I360N	possibly damaging	Het
Lrp1b	C	A	2: 41,392,029 (GRCm39)	D512Y		Het
Lrpprc	C	T	17: 85,059,736 (GRCm39)		probably null	Het
Lta4h	A	G	10: 93,318,850 (GRCm39)	K547R	probably benign	Het
Nacad	G	C	11: 6,548,948 (GRCm39)	P1340R	possibly damaging	Het
Ncapd2	T	C	6: 125,156,301 (GRCm39)	K495E	probably benign	Het
Ndufaf7	A	T	17: 79,245,968 (GRCm39)		probably null	Het
Nsrp1	A	G	11: 76,941,477 (GRCm39)	V77A	probably benign	Het
Or1f19	A	T	16: 3,411,132 (GRCm39)	S291C	probably damaging	Het
Or8k3b	T	C	2: 86,521,139 (GRCm39)	Y60C	probably damaging	Het
P2ry12	A	G	3: 59,125,456 (GRCm39)	V73A	probably damaging	Het
Pafah1b1	G	A	11: 74,574,493 (GRCm39)	T231I	probably benign	Het
Parp11	C	A	6: 127,448,615 (GRCm39)	Y77*	probably null	Het
Phc3	T	A	3: 30,983,916 (GRCm39)	T712S	unknown	Het
Pkm	T	A	9: 59,579,220 (GRCm39)	I335N	probably damaging	Het
Pmpca	A	G	2: 26,283,581 (GRCm39)	T417A	probably benign	Het
Pot1b	C	T	17: 56,006,991 (GRCm39)		probably null	Het
Prrc1	T	A	18: 57,507,764 (GRCm39)		probably null	Het
Psg18	A	T	7: 18,083,047 (GRCm39)	N369K	probably benign	Het
Pum3	T	A	19: 27,399,791 (GRCm39)	Y214F	probably damaging	Het
Reln	G	A	5: 22,253,036 (GRCm39)	T637M	probably damaging	Het
Rpe65	A	T	3: 159,321,292 (GRCm39)	Y368F	probably damaging	Het
Serpina3a	A	G	12: 104,082,362 (GRCm39)	D45G	probably benign	Het
Serpinb3c	T	A	1: 107,199,731 (GRCm39)	L263F	probably damaging	Het
Slc25a23	C	T	17: 57,352,553 (GRCm39)	V444I	probably damaging	Het
Slc40a1	C	T	1: 45,948,621 (GRCm39)	G553D	probably benign	Het
Spata31e5	T	C	1: 28,816,037 (GRCm39)	Q665R	possibly damaging	Het
Spata31h1	A	G	10: 82,123,185 (GRCm39)	I3275T	probably benign	Het
Taf7	C	A	18: 37,776,223 (GRCm39)	D115Y	probably damaging	Het
Tanc1	G	C	2: 59,673,766 (GRCm39)	A1624P	probably benign	Het
Tmed4	T	C	11: 6,224,405 (GRCm39)	D85G	probably benign	Het
Tmem63b	T	C	17: 45,977,517 (GRCm39)	T370A	probably benign	Het
Ttc38	A	G	15: 85,720,310 (GRCm39)	T91A	probably benign	Het
Ube4b	C	G	4: 149,444,833 (GRCm39)	A476P	probably benign	Het
Vmn2r53	A	G	7: 12,315,435 (GRCm39)	C795R	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
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
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
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'- GCCGCATAATGAGCTGAAGG -3'
(R):5'- CTTTGCTACACAAGAAACAGGTATG -3'

Sequencing Primer
(F):5'- GAAGGGTTCAGCTCTTTTTGCCC -3'
(R):5'- CATATCTTGGTCAGTTCAAGGCCAG -3'

Posted On

2021-11-19