Mutagenetix > Incidental Mutation

Incidental Mutation 'R3116:Tmed11'

264014

Institutional Source

Beutler Lab

Gene Symbol

Tmed11

Ensembl Gene

ENSMUSG00000004821

Gene Name

transmembrane p24 trafficking protein 11

Synonyms

1810008K16Rik

MMRRC Submission

040589-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.835) question?

Stock #

R3116 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108925101-108943229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108927705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 110 (V110M)

Ref Sequence

ENSEMBL: ENSMUSP00000004943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004943] [ENSMUST00000200159] [ENSMUST00000212176] [ENSMUST00000212212]

AlphaFold

Q9D2R4

Predicted Effect

probably damaging
Transcript: ENSMUST00000004943
AA Change: V110M

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000004943
Gene: ENSMUSG00000004821
AA Change: V110M

Domain	Start	End	E-Value	Type
EMP24_GP25L	17	210	1.11e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200159

Predicted Effect

probably benign
Transcript: ENSMUST00000212176

Predicted Effect

probably benign
Transcript: ENSMUST00000212212

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,946,610 (GRCm39)	I37F	possibly damaging	Het
Aoc1l3	A	G	6: 48,964,331 (GRCm39)	Y113C	probably damaging	Het
Ccdc146	T	C	5: 21,521,953 (GRCm39)	N357S	probably benign	Het
Csmd3	A	G	15: 47,520,995 (GRCm39)	F2783S	probably damaging	Het
Desi2	T	A	1: 178,072,008 (GRCm39)	M104K	probably damaging	Het
Disp1	C	T	1: 182,870,486 (GRCm39)	V645I	probably benign	Het
Dock8	A	T	19: 25,165,858 (GRCm39)	H1914L	probably benign	Het
Fdft1	T	C	14: 63,415,147 (GRCm39)	I28M	probably benign	Het
Ffar3	T	C	7: 30,555,231 (GRCm39)	M30V	probably benign	Het
Grm3	A	T	5: 9,620,752 (GRCm39)	F164Y	probably damaging	Het
Ints5	T	C	19: 8,872,136 (GRCm39)	S32P	possibly damaging	Het
Itgam	T	A	7: 127,715,201 (GRCm39)	S908R	probably damaging	Het
Kif20b	C	T	19: 34,947,480 (GRCm39)	P1565L	probably benign	Het
Kntc1	A	G	5: 123,940,121 (GRCm39)	E1610G	probably damaging	Het
Krt24	T	A	11: 99,173,262 (GRCm39)	T298S	possibly damaging	Het
Magoh	T	C	4: 107,744,409 (GRCm39)	V126A	possibly damaging	Het
Marchf6	G	A	15: 31,486,265 (GRCm39)	S362F	probably benign	Het
Meak7	G	A	8: 120,495,056 (GRCm39)	A234V	probably benign	Het
Mier3	T	A	13: 111,843,182 (GRCm39)	I178N	probably damaging	Het
Moxd1	G	T	10: 24,177,429 (GRCm39)	E582*	probably null	Het
Ncor2	A	T	5: 125,101,230 (GRCm39)	L2195Q	probably damaging	Het
Neil1	A	T	9: 57,053,947 (GRCm39)	D124E	probably benign	Het
Nhsl1	A	T	10: 18,400,916 (GRCm39)	Q714L	probably damaging	Het
Nipbl	T	A	15: 8,373,076 (GRCm39)	M1057L	probably benign	Het
Npas3	G	A	12: 54,114,508 (GRCm39)		probably null	Het
Oas1h	C	T	5: 120,999,679 (GRCm39)	Q55*	probably null	Het
Or2a5	T	C	6: 42,873,784 (GRCm39)	V133A	probably benign	Het
Or2ag2b	T	A	7: 106,417,571 (GRCm39)	F94I	probably damaging	Het
Or52h9	C	A	7: 104,202,295 (GRCm39)	H56Q	probably benign	Het
Or5p61	T	C	7: 107,759,029 (GRCm39)	E17G	probably benign	Het
Or7d9	A	T	9: 20,197,523 (GRCm39)	H176L	probably benign	Het
Phactr2	C	A	10: 13,137,645 (GRCm39)	E166*	probably null	Het
Prkdc	C	T	16: 15,482,222 (GRCm39)	L422F	probably benign	Het
Pum1	T	C	4: 130,499,971 (GRCm39)	V1051A	probably damaging	Het
Pxdn	T	C	12: 30,052,306 (GRCm39)	S828P	possibly damaging	Het
Rad21	T	A	15: 51,828,397 (GRCm39)	E557V	probably null	Het
Rtn3	T	G	19: 7,409,355 (GRCm39)	N888H	probably damaging	Het
Slc12a5	T	A	2: 164,838,101 (GRCm39)		probably null	Het
Slc7a11	T	A	3: 50,338,588 (GRCm39)	M274L	probably benign	Het
Tacc2	A	G	7: 130,360,979 (GRCm39)	N825S	probably damaging	Het
Tln2	T	A	9: 67,262,421 (GRCm39)	D610V	probably benign	Het
Tmem92	T	C	11: 94,673,254 (GRCm39)	D3G	possibly damaging	Het
Trp53rkb	C	T	2: 166,636,009 (GRCm39)		probably benign	Het
Wdr91	A	G	6: 34,882,522 (GRCm39)	L209P	probably damaging	Het
Zfp511	T	A	7: 139,616,504 (GRCm39)	D46E	probably benign	Het
Zfp804a	C	A	2: 82,089,761 (GRCm39)	Q1197K	probably damaging	Het

Other mutations in Tmed11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Tmed11	APN	5	108,934,031 (GRCm39)	missense	probably benign	0.00
IGL01612:Tmed11	APN	5	108,927,750 (GRCm39)	missense	possibly damaging	0.82
R0109:Tmed11	UTSW	5	108,925,278 (GRCm39)	missense	probably damaging	1.00
R0109:Tmed11	UTSW	5	108,925,278 (GRCm39)	missense	probably damaging	1.00
R0725:Tmed11	UTSW	5	108,926,855 (GRCm39)	missense	probably damaging	1.00
R0836:Tmed11	UTSW	5	108,943,175 (GRCm39)	start codon destroyed	probably null	0.47
R1195:Tmed11	UTSW	5	108,926,885 (GRCm39)	missense	possibly damaging	0.73
R1195:Tmed11	UTSW	5	108,926,885 (GRCm39)	missense	possibly damaging	0.73
R1195:Tmed11	UTSW	5	108,926,885 (GRCm39)	missense	possibly damaging	0.73
R1551:Tmed11	UTSW	5	108,927,680 (GRCm39)	critical splice donor site	probably null
R1815:Tmed11	UTSW	5	108,925,291 (GRCm39)	missense	probably benign
R2004:Tmed11	UTSW	5	108,934,000 (GRCm39)	missense	possibly damaging	0.48
R2121:Tmed11	UTSW	5	108,943,198 (GRCm39)	unclassified	probably benign
R4896:Tmed11	UTSW	5	108,943,048 (GRCm39)	splice site	probably null
R5070:Tmed11	UTSW	5	108,943,089 (GRCm39)	missense	probably benign	0.01
R5104:Tmed11	UTSW	5	108,925,142 (GRCm39)	splice site	probably null
R5678:Tmed11	UTSW	5	108,934,031 (GRCm39)	missense	probably benign	0.00
R6967:Tmed11	UTSW	5	108,926,780 (GRCm39)	missense	probably damaging	1.00
R8948:Tmed11	UTSW	5	108,925,293 (GRCm39)	missense	probably damaging	1.00
R9535:Tmed11	UTSW	5	108,926,915 (GRCm39)	missense	possibly damaging	0.82
Z1176:Tmed11	UTSW	5	108,925,186 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- ACCCCTGTACTGTGTAAGAGTTTTC -3'
(R):5'- CAGGATAAACAAGGGACGTTTTGC -3'

Sequencing Primer
(F):5'- GCCTGAGTAATCACAGCTCTTTGAAC -3'
(R):5'- CAAGGGACGTTTTGCTATAATTTG -3'

Posted On

2015-02-05