Mutagenetix > Incidental Mutation

Incidental Mutation 'R1195:Tmed11'

101039

Institutional Source

Beutler Lab

Gene Symbol

Tmed11

Ensembl Gene

ENSMUSG00000004821

Gene Name

transmembrane p24 trafficking protein 11

Synonyms

1810008K16Rik

MMRRC Submission

039267-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.843) question?

Stock #

R1195 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108925101-108943229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108926885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 129 (D129G)

Ref Sequence

ENSEMBL: ENSMUSP00000004943 (fasta)

Gene Model

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

AlphaFold

Q9D2R4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004943
AA Change: D129G

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000004943
Gene: ENSMUSG00000004821
AA Change: D129G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.1%
20x: 81.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	C	A	13: 30,565,901 (GRCm39)	P322Q	probably damaging	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
Brd1	T	C	15: 88,585,014 (GRCm39)	E940G	probably benign	Het
Cd28	C	T	1: 60,802,303 (GRCm39)	T74I	possibly damaging	Het
Cntnap2	T	A	6: 46,460,902 (GRCm39)	M646K	probably benign	Het
Cyb5d1	C	T	11: 69,285,797 (GRCm39)		probably null	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dst	A	G	1: 34,250,235 (GRCm39)	D4063G	probably damaging	Het
Elmod1	T	C	9: 53,843,052 (GRCm39)	Y42C	probably damaging	Het
Hdac5	T	C	11: 102,096,332 (GRCm39)	I310V	probably damaging	Het
Ighv10-1	A	T	12: 114,443,015 (GRCm39)		probably benign	Het
Igsf3	A	G	3: 101,365,419 (GRCm39)	D1130G	probably benign	Het
Katnip	A	G	7: 125,465,654 (GRCm39)	R1343G	probably damaging	Het
Kdm4d	A	G	9: 14,374,395 (GRCm39)	S488P	probably benign	Het
Lingo2	A	G	4: 35,708,538 (GRCm39)	Y481H	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Map3k20	C	T	2: 72,268,562 (GRCm39)	P523L	probably damaging	Het
Msx1	A	G	5: 37,978,625 (GRCm39)	Y297H	probably damaging	Het
Myo9a	A	G	9: 59,802,483 (GRCm39)	D1990G	probably damaging	Het
Niban2	T	C	2: 32,809,815 (GRCm39)	V304A	probably benign	Het
Perp	C	A	10: 18,731,483 (GRCm39)	Y147*	probably null	Het
Prr16	A	T	18: 51,435,755 (GRCm39)	D78V	probably damaging	Het
Rfx7	C	T	9: 72,525,228 (GRCm39)	T806M	probably damaging	Het
Robo2	T	C	16: 73,713,016 (GRCm39)		probably null	Het
Sema5b	A	T	16: 35,472,030 (GRCm39)	E496V	probably null	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Spdl1	T	C	11: 34,710,644 (GRCm39)	Y368C	probably damaging	Het
Sptbn2	G	C	19: 4,795,921 (GRCm39)	R1700P	possibly damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tln2	T	G	9: 67,165,848 (GRCm39)	K1000Q	probably damaging	Het
Tmbim7	A	G	5: 3,711,943 (GRCm39)	T63A	probably benign	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Ttll6	T	C	11: 96,026,555 (GRCm39)	I113T	probably damaging	Het
Uso1	T	A	5: 92,318,606 (GRCm39)	F210L	probably damaging	Het
Uspl1	T	A	5: 149,131,131 (GRCm39)	V224E	probably benign	Het
Zfp639	G	A	3: 32,573,345 (GRCm39)	V86I	possibly 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
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
R3116:Tmed11	UTSW	5	108,927,705 (GRCm39)	missense	probably damaging	0.96
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'- AGAGGCAAATGAGCCTCAATTCCC -3'
(R):5'- CTCAAGATGGTGTGGAACCTCAGTC -3'

Sequencing Primer
(F):5'- GTGAAGAAAGGTGACTCTCTCTC -3'
(R):5'- TGTGGAACCTCAGTCATGAAAG -3'

Posted On

2014-01-15