Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01308:Tmed1'

73525

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmed1

Ensembl Gene

ENSMUSG00000032180

Gene Name

transmembrane p24 trafficking protein 1

Synonyms

St2l, Ly84l, Il1rl1l

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

IGL01308

Quality Score

Status

Chromosome

Chromosomal Location

21418849-21421548 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 21421338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 45 (C45*)

Ref Sequence

ENSEMBL: ENSMUSP00000150154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034698] [ENSMUST00000072362] [ENSMUST00000091087] [ENSMUST00000115404] [ENSMUST00000165766] [ENSMUST00000172482] [ENSMUST00000214285] [ENSMUST00000214576] [ENSMUST00000173397]

AlphaFold

Q3V009

Predicted Effect

probably null
Transcript: ENSMUST00000034698
AA Change: C45*

SMART Domains

Protein: ENSMUSP00000034698
Gene: ENSMUSG00000032180
AA Change: C45*

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
EMP24_GP25L	33	220	1.78e-54	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000072362

SMART Domains

Protein: ENSMUSP00000072199
Gene: ENSMUSG00000033335

Domain	Start	End	E-Value	Type
DYNc	6	245	1.01e-193	SMART
low complexity region	298	313	N/A	INTRINSIC
PH	520	627	8e-13	SMART
GED	648	739	2.57e-28	SMART
low complexity region	740	752	N/A	INTRINSIC
low complexity region	777	799	N/A	INTRINSIC
low complexity region	831	864	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091087

SMART Domains

Protein: ENSMUSP00000088616
Gene: ENSMUSG00000033335

Domain	Start	End	E-Value	Type
DYNc	6	245	1.01e-193	SMART
low complexity region	298	313	N/A	INTRINSIC
PH	516	623	8e-13	SMART
GED	644	735	2.57e-28	SMART
low complexity region	736	748	N/A	INTRINSIC
low complexity region	773	795	N/A	INTRINSIC
low complexity region	827	860	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115404

SMART Domains

Protein: ENSMUSP00000111063
Gene: ENSMUSG00000033335

Domain	Start	End	E-Value	Type
DYNc	6	245	1.01e-193	SMART
low complexity region	298	313	N/A	INTRINSIC
PH	520	627	8e-13	SMART
GED	648	739	2.57e-28	SMART
low complexity region	740	752	N/A	INTRINSIC
low complexity region	777	799	N/A	INTRINSIC
low complexity region	831	864	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165766

SMART Domains

Protein: ENSMUSP00000128961
Gene: ENSMUSG00000033335

Domain	Start	End	E-Value	Type
DYNc	6	245	1.01e-193	SMART
low complexity region	298	313	N/A	INTRINSIC
PH	520	627	8e-13	SMART
GED	648	739	2.57e-28	SMART
low complexity region	740	752	N/A	INTRINSIC
low complexity region	777	799	N/A	INTRINSIC
low complexity region	831	858	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172482

SMART Domains

Protein: ENSMUSP00000133564
Gene: ENSMUSG00000033335

Domain	Start	End	E-Value	Type
DYNc	6	245	1.01e-193	SMART
low complexity region	298	313	N/A	INTRINSIC
PH	520	627	8e-13	SMART
GED	648	739	2.57e-28	SMART
low complexity region	740	752	N/A	INTRINSIC
low complexity region	777	799	N/A	INTRINSIC
low complexity region	831	864	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174243

Predicted Effect

probably null
Transcript: ENSMUST00000214285
AA Change: C45*

Predicted Effect

probably null
Transcript: ENSMUST00000213167
AA Change: C40*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213316

Predicted Effect

probably null
Transcript: ENSMUST00000214576
AA Change: C45*

Predicted Effect

probably benign
Transcript: ENSMUST00000173397

SMART Domains

Protein: ENSMUSP00000134243
Gene: ENSMUSG00000033335

Domain	Start	End	E-Value	Type
DYNc	6	245	1.01e-193	SMART
low complexity region	298	313	N/A	INTRINSIC
PH	520	627	8e-13	SMART
GED	648	739	2.57e-28	SMART
low complexity region	740	752	N/A	INTRINSIC
low complexity region	777	799	N/A	INTRINSIC
low complexity region	831	863	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174050

SMART Domains

Protein: ENSMUSP00000134696
Gene: ENSMUSG00000033335

Domain	Start	End	E-Value	Type
DYNc	1	196	8.6e-138	SMART
low complexity region	249	264	N/A	INTRINSIC
PH	467	574	8e-13	SMART
GED	595	686	2.57e-28	SMART
low complexity region	687	699	N/A	INTRINSIC
low complexity region	724	746	N/A	INTRINSIC
low complexity region	778	805	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,748,997 (GRCm39)	D1256G	probably damaging	Het
Acot7	A	T	4: 152,345,353 (GRCm39)	M308L	probably benign	Het
Adarb2	A	G	13: 8,253,329 (GRCm39)	R25G	possibly damaging	Het
Ano1	C	A	7: 144,149,235 (GRCm39)	Q875H	probably damaging	Het
Ano6	G	A	15: 95,811,542 (GRCm39)		probably null	Het
Defa40	C	T	8: 21,740,434 (GRCm39)	T80I	probably damaging	Het
Efcab3	A	T	11: 104,611,523 (GRCm39)	D455V	probably benign	Het
Ehbp1	G	A	11: 22,088,022 (GRCm39)	P354L	probably damaging	Het
Eml5	T	C	12: 98,768,572 (GRCm39)	H1454R	probably damaging	Het
Esyt1	T	A	10: 128,355,660 (GRCm39)	N421Y	possibly damaging	Het
Gen1	T	C	12: 11,306,871 (GRCm39)	T100A	probably damaging	Het
Jak3	A	T	8: 72,137,810 (GRCm39)	D780V	probably damaging	Het
Klrb1a	A	G	6: 128,595,008 (GRCm39)		probably benign	Het
Lrp8	A	G	4: 107,721,273 (GRCm39)	I826M	probably benign	Het
Mcmbp	G	A	7: 128,316,209 (GRCm39)	Q214*	probably null	Het
Mtmr7	A	T	8: 41,050,388 (GRCm39)	Y136N	probably damaging	Het
Ndor1	A	G	2: 25,140,151 (GRCm39)	Y88H	probably benign	Het
Nkx2-4	A	G	2: 146,926,260 (GRCm39)	Y201H	possibly damaging	Het
Or3a1d	A	G	11: 74,237,486 (GRCm39)	L308P	probably damaging	Het
Or52n4b	T	A	7: 108,143,933 (GRCm39)	L65*	probably null	Het
Or6c5	A	T	10: 129,074,476 (GRCm39)	T153S	probably benign	Het
Pigg	T	C	5: 108,484,343 (GRCm39)	L663P	probably damaging	Het
Pik3cd	A	G	4: 149,741,917 (GRCm39)	V343A	probably damaging	Het
Plekha4	A	G	7: 45,187,659 (GRCm39)	S244G	probably damaging	Het
Prkce	T	A	17: 86,932,890 (GRCm39)	D623E	probably damaging	Het
Rasgrf2	A	G	13: 92,159,425 (GRCm39)		probably benign	Het
Rexo5	T	C	7: 119,433,499 (GRCm39)	W419R	probably damaging	Het
Rnaseh2b	A	G	14: 62,602,706 (GRCm39)		probably null	Het
Rras	A	G	7: 44,670,709 (GRCm39)	Y193C	possibly damaging	Het
Sall4	T	C	2: 168,592,164 (GRCm39)	I997V	probably damaging	Het
Sec31b	A	G	19: 44,512,122 (GRCm39)	F591L	probably benign	Het
Skic2	A	G	17: 35,059,610 (GRCm39)	L232P	probably benign	Het
Slc13a3	A	T	2: 165,248,700 (GRCm39)	I526N	probably damaging	Het
Slc6a11	C	T	6: 114,111,626 (GRCm39)	T103M	probably damaging	Het
Snrnp25	A	G	11: 32,158,745 (GRCm39)		probably benign	Het
Tex264	T	C	9: 106,539,607 (GRCm39)	K201E	possibly damaging	Het
Tgfb1	G	T	7: 25,387,442 (GRCm39)	R50L	probably damaging	Het
Tle4	A	G	19: 14,445,625 (GRCm39)	V207A	probably benign	Het
Tmem260	A	G	14: 48,749,415 (GRCm39)	N638S	probably damaging	Het
Traf3ip3	T	C	1: 192,867,199 (GRCm39)	E274G	probably damaging	Het
Trak1	T	C	9: 121,272,802 (GRCm39)		probably null	Het
Trim3	A	T	7: 105,266,676 (GRCm39)	V502E	probably damaging	Het
Trmo	C	T	4: 46,377,053 (GRCm39)		probably benign	Het
Xab2	C	T	8: 3,666,332 (GRCm39)	R192Q	probably benign	Het

Other mutations in Tmed1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Tmed1	APN	9	21,421,369 (GRCm39)	missense	probably damaging	1.00
R1866:Tmed1	UTSW	9	21,420,387 (GRCm39)	missense	probably damaging	1.00
R5303:Tmed1	UTSW	9	21,421,343 (GRCm39)	missense	possibly damaging	0.52
R5768:Tmed1	UTSW	9	21,420,619 (GRCm39)	missense	probably benign	0.07
R7117:Tmed1	UTSW	9	21,420,550 (GRCm39)	missense	possibly damaging	0.49

Posted On

2013-10-07