Mutagenetix > Incidental Mutation

Incidental Mutation 'R2333:Tmem100'

246505

Institutional Source

Beutler Lab

Gene Symbol

Tmem100

Ensembl Gene

ENSMUSG00000069763

Gene Name

transmembrane protein 100

Synonyms

1810057C19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2333 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89921174-89927334 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89926424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 84 (I84V)

Ref Sequence

ENSEMBL: ENSMUSP00000090464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092788]

AlphaFold

Q9CQG9

Predicted Effect

probably benign
Transcript: ENSMUST00000092788
AA Change: I84V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090464
Gene: ENSMUSG00000069763
AA Change: I84V

Domain	Start	End	E-Value	Type
Pfam:TMEM100	1	133	7.8e-64	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutations display prenatal lethality. Mice homozygous for one null mutation display defects in arterial differentiation and maturation and complete lethality during organogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Brd4	C	T	17: 32,440,431 (GRCm39)	D302N	probably damaging	Het
Celsr2	T	C	3: 108,305,921 (GRCm39)	N2061S	probably benign	Het
Col1a2	A	T	6: 4,532,747 (GRCm39)	M791L	unknown	Het
Dmxl1	A	G	18: 50,053,043 (GRCm39)		probably null	Het
Elp1	A	G	4: 56,775,456 (GRCm39)	V701A	probably benign	Het
Grm1	A	G	10: 10,595,090 (GRCm39)	V846A	probably damaging	Het
Grm1	G	A	10: 10,595,363 (GRCm39)	A755V	probably benign	Het
Ltbp4	C	T	7: 27,027,203 (GRCm39)	R389Q	possibly damaging	Het
Naip5	A	G	13: 100,359,679 (GRCm39)	I519T	probably damaging	Het
Resf1	T	A	6: 149,229,009 (GRCm39)	I685K	probably damaging	Het
Tnik	C	T	3: 28,587,145 (GRCm39)	R139W	probably damaging	Het
Vmn1r203	A	G	13: 22,709,113 (GRCm39)	D298G	probably damaging	Het
Zfp324	A	G	7: 12,705,172 (GRCm39)	T454A	possibly damaging	Het

Other mutations in Tmem100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4468001:Tmem100	UTSW	11	89,926,187 (GRCm39)	missense	probably benign	0.01
R4705:Tmem100	UTSW	11	89,926,389 (GRCm39)	missense	probably damaging	1.00
R4819:Tmem100	UTSW	11	89,926,271 (GRCm39)	missense	probably benign	0.00
R7420:Tmem100	UTSW	11	89,926,579 (GRCm39)	makesense	probably null
R7808:Tmem100	UTSW	11	89,926,302 (GRCm39)	missense	probably benign	0.02
R8749:Tmem100	UTSW	11	89,926,574 (GRCm39)	missense	probably damaging	1.00
R8973:Tmem100	UTSW	11	89,926,302 (GRCm39)	missense	probably benign	0.02
R9364:Tmem100	UTSW	11	89,926,533 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGGGAAGTTGTGGTCACC -3'
(R):5'- CCGGGCTGGTTTCCTATGAATG -3'

Sequencing Primer
(F):5'- TCACCACGGGACCCTTG -3'
(R):5'- TGAATGAGTTCACTGAGTTAGAGC -3'

Posted On

2014-10-30