Mutagenetix > Incidental Mutation

Incidental Mutation 'R3038:Tmed9'

264885

Institutional Source

Beutler Lab

Gene Symbol

Tmed9

Ensembl Gene

ENSMUSG00000058569

Gene Name

transmembrane p24 trafficking protein 9

Synonyms

2400003B06Rik, p24alpha2

MMRRC Submission

040554-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R3038 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55740948-55745510 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55744792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 207 (K207E)

Ref Sequence

ENSEMBL: ENSMUSP00000153554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064701] [ENSMUST00000100764] [ENSMUST00000109905] [ENSMUST00000133176] [ENSMUST00000224741]

AlphaFold

Q99KF1

Predicted Effect

probably benign
Transcript: ENSMUST00000064701

SMART Domains

Protein: ENSMUSP00000068532
Gene: ENSMUSG00000021504

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
transmembrane domain	29	51	N/A	INTRINSIC
Pfam:Glyco_transf_7N	62	177	8.5e-27	PFAM
Pfam:Glyco_transf_7C	181	260	2.6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100764

SMART Domains

Protein: ENSMUSP00000098327
Gene: ENSMUSG00000021504

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
transmembrane domain	29	51	N/A	INTRINSIC
Pfam:Glyco_transf_7N	72	180	9.2e-29	PFAM
Pfam:Glyco_transf_7C	181	263	1.3e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109905
AA Change: K233E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105531
Gene: ENSMUSG00000058569
AA Change: K233E

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
EMP24_GP25L	37	230	2.43e-79	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133176

SMART Domains

Protein: ENSMUSP00000123292
Gene: ENSMUSG00000021504

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_7N	18	124	1.1e-28	PFAM
Pfam:Glyco_transf_7C	125	204	5e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224634

Predicted Effect

probably damaging
Transcript: ENSMUST00000224741
AA Change: K207E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225888

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a family of genes encoding transport proteins located in the endoplasmic reticulum and the Golgi. A similar gene in mouse is the target of microRNA miR-296, which is part of an imprinted cluster. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bspry	A	G	4: 62,415,220 (GRCm39)	I468V	probably benign	Het
Cavin2	T	A	1: 51,340,416 (GRCm39)	N364K	possibly damaging	Het
Ces1f	T	A	8: 93,983,226 (GRCm39)	N506I	probably damaging	Het
Dnhd1	A	T	7: 105,369,436 (GRCm39)	Q4353L	probably damaging	Het
Dsc3	T	C	18: 20,124,617 (GRCm39)	T36A	possibly damaging	Het
Hydin	A	G	8: 111,309,321 (GRCm39)	T4038A	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kif1b	T	C	4: 149,297,790 (GRCm39)	I1083V	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Mrgpra1	G	A	7: 46,984,744 (GRCm39)	Q312*	probably null	Het
Pcdha1	T	A	18: 37,064,064 (GRCm39)	F243I	probably damaging	Het
Ppp1r18	T	C	17: 36,179,274 (GRCm39)	L383P	probably damaging	Het
Tnfrsf19	A	G	14: 61,209,512 (GRCm39)	S253P	probably benign	Het
Tspear	T	A	10: 77,722,273 (GRCm39)	Y624*	probably null	Het
Vmn2r16	G	A	5: 109,487,199 (GRCm39)	C140Y	probably damaging	Het
Vwa7	T	C	17: 35,241,637 (GRCm39)	V424A	probably damaging	Het
Zgpat	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	2: 181,007,811 (GRCm39)		probably benign	Het

Other mutations in Tmed9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Tmed9	APN	13	55,741,334 (GRCm39)	missense	probably benign	0.02
IGL02178:Tmed9	APN	13	55,741,108 (GRCm39)	missense	possibly damaging	0.95
IGL03060:Tmed9	APN	13	55,743,321 (GRCm39)	missense	possibly damaging	0.63
IGL03323:Tmed9	APN	13	55,744,691 (GRCm39)	missense	probably damaging	0.98
R2190:Tmed9	UTSW	13	55,741,156 (GRCm39)	missense	probably benign	0.01
R3413:Tmed9	UTSW	13	55,743,387 (GRCm39)	missense	probably benign	0.01
R7298:Tmed9	UTSW	13	55,741,107 (GRCm39)	missense	possibly damaging	0.52
R7751:Tmed9	UTSW	13	55,741,054 (GRCm39)	missense	not run
R7800:Tmed9	UTSW	13	55,743,345 (GRCm39)	missense	probably benign	0.03
R8343:Tmed9	UTSW	13	55,742,617 (GRCm39)	missense	probably benign	0.00
R8955:Tmed9	UTSW	13	55,744,775 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- CTGGGGATCTTTGCAAGCTG -3'
(R):5'- CACTACTGGCTCAGCATTAGCC -3'

Sequencing Primer
(F):5'- TCTTTGCAAGCTGGGAACAC -3'
(R):5'- TCAGCATTAGCCAGCCAGG -3'

Posted On

2015-02-05