Mutagenetix > Incidental Mutation

Incidental Mutation 'R5678:Tmed11'

442881

Institutional Source

Beutler Lab

Gene Symbol

Tmed11

Ensembl Gene

ENSMUSG00000004821

Gene Name

transmembrane p24 trafficking protein 11

Synonyms

1810008K16Rik

MMRRC Submission

043317-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.843) question?

Stock #

R5678 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108925101-108943229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108934031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 55 (D55G)

Ref Sequence

ENSEMBL: ENSMUSP00000004943 (fasta)

Gene Model

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

AlphaFold

Q9D2R4

Predicted Effect

probably benign
Transcript: ENSMUST00000004943
AA Change: D55G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000004943
Gene: ENSMUSG00000004821
AA Change: D55G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,466,529 (GRCm39)	T168A	probably damaging	Het
3425401B19Rik	T	A	14: 32,384,010 (GRCm39)	R652W	probably damaging	Het
A530016L24Rik	T	G	12: 112,463,306 (GRCm39)	C43W	probably damaging	Het
Aatk	T	C	11: 119,900,980 (GRCm39)	T1082A	probably benign	Het
Acsl1	T	A	8: 46,945,887 (GRCm39)	F7I	probably benign	Het
Adgb	T	G	10: 10,307,070 (GRCm39)	S299R	possibly damaging	Het
Apob	T	C	12: 8,041,494 (GRCm39)	F738L	possibly damaging	Het
Art3	T	C	5: 92,540,409 (GRCm39)	Y51H	probably damaging	Het
Atr	C	T	9: 95,833,540 (GRCm39)	Q2597*	probably null	Het
Atrn	T	C	2: 130,811,936 (GRCm39)	V627A	probably damaging	Het
Baz1a	T	C	12: 54,947,317 (GRCm39)	K1111E	probably damaging	Het
Ccdc40	T	C	11: 119,122,398 (GRCm39)	S67P	possibly damaging	Het
Cd164	T	C	10: 41,395,948 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,234,154 (GRCm39)	D2214G	probably damaging	Het
Clcn1	A	G	6: 42,284,199 (GRCm39)	Y589C	probably damaging	Het
Col1a2	C	T	6: 4,536,239 (GRCm39)	A998V	unknown	Het
Csrnp2	T	C	15: 100,379,685 (GRCm39)	*535W	probably null	Het
Dhrs7	C	T	12: 72,704,106 (GRCm39)	G130D	probably damaging	Het
Dnah3	T	C	7: 119,677,074 (GRCm39)	T477A	probably benign	Het
Dscam	A	G	16: 96,592,100 (GRCm39)	F725S	probably benign	Het
Dstyk	T	C	1: 132,381,029 (GRCm39)	V508A	probably benign	Het
Eif4g3	A	G	4: 137,879,053 (GRCm39)	E595G	probably damaging	Het
Epha6	A	T	16: 59,639,342 (GRCm39)	V844E	probably damaging	Het
Esrp2	G	A	8: 106,858,750 (GRCm39)	A629V	probably damaging	Het
Fndc3b	A	G	3: 27,483,172 (GRCm39)	S1009P	probably benign	Het
Gm8257	A	T	14: 44,894,706 (GRCm39)	I28N	probably damaging	Het
Ighv5-9-1	T	C	12: 113,700,207 (GRCm39)	E4G	possibly damaging	Het
Ints3	A	G	3: 90,310,855 (GRCm39)	V455A	probably damaging	Het
Lamtor2	A	G	3: 88,458,101 (GRCm39)		probably benign	Het
Npy1r	T	C	8: 67,156,855 (GRCm39)	C92R	probably damaging	Het
Nup210l	T	C	3: 90,098,266 (GRCm39)	V1406A	probably damaging	Het
Or10g7	T	C	9: 39,905,199 (GRCm39)	V31A	probably benign	Het
Or4a75	A	G	2: 89,447,625 (GRCm39)	F304L	probably benign	Het
Or4c108	A	T	2: 88,803,317 (GRCm39)	L306*	probably null	Het
Prune2	A	G	19: 17,096,032 (GRCm39)	D512G	probably damaging	Het
Qdpr	T	C	5: 45,604,979 (GRCm39)	E43G	possibly damaging	Het
Rps6ka5	T	C	12: 100,691,135 (GRCm39)	E2G	unknown	Het
Setd2	A	G	9: 110,431,254 (GRCm39)	T5A	probably damaging	Het
Slc66a2	T	C	18: 80,300,249 (GRCm39)	I40T	probably damaging	Het
Srpk2	TCA	T	5: 23,729,604 (GRCm39)		probably null	Het
Sympk	T	C	7: 18,783,397 (GRCm39)		probably null	Het
Tasor	CGCGGCGGCGGCGGCGG	CGCGGCGGCGGCGGCGGCGGCGG	14: 27,151,080 (GRCm39)		probably benign	Het
Tchh	A	T	3: 93,352,933 (GRCm39)	Q791L	unknown	Het
Tnrc18	T	C	5: 142,719,319 (GRCm39)	D1989G	unknown	Het
Utp20	A	T	10: 88,644,979 (GRCm39)	H582Q	probably benign	Het
Utrn	A	G	10: 12,317,762 (GRCm39)	I554T	probably damaging	Het
Zfp1005	A	T	2: 150,110,425 (GRCm39)	R372*	probably null	Het
Zfp119a	T	C	17: 56,175,336 (GRCm39)	E53G	probably benign	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
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
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'- GGCATATGTGTGAAGTTCAGAG -3'
(R):5'- GCAACAAAGGGATTTCATTCTCC -3'

Sequencing Primer
(F):5'- ACTGAGCTATCTCACAGGTCTG -3'
(R):5'- GGGATTTCATTCTCCAGAGATACACC -3'

Posted On

2016-11-09