Mutagenetix > Incidental Mutation

Incidental Mutation 'R0785:Tmem243'

76813

Institutional Source

Beutler Lab

Gene Symbol

Tmem243

Ensembl Gene

ENSMUSG00000079659

Gene Name

transmembrane protein 243, mitochondrial

Synonyms

4930420K17Rik, E030031F02Rik

MMRRC Submission

038965-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R0785 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9150737-9168983 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9168488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 90 (K90I)

Ref Sequence

ENSEMBL: ENSMUSP00000111022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071921] [ENSMUST00000095017] [ENSMUST00000115365] [ENSMUST00000183448] [ENSMUST00000183973] [ENSMUST00000184120] [ENSMUST00000184401] [ENSMUST00000184159] [ENSMUST00000184888] [ENSMUST00000184620] [ENSMUST00000198935] [ENSMUST00000196029]

AlphaFold

B2RVB9

Predicted Effect

probably benign
Transcript: ENSMUST00000071921

SMART Domains

Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508

Domain	Start	End	E-Value	Type
SANT	223	270	2.52e-10	SMART
SANT	272	331	6.05e-13	SMART
SANT	335	390	5.36e-5	SMART
low complexity region	522	542	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095017

SMART Domains

Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508

Domain	Start	End	E-Value	Type
SANT	223	270	2.52e-10	SMART
SANT	272	331	6.05e-13	SMART
SANT	335	390	5.36e-5	SMART
low complexity region	452	472	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115365
AA Change: K90I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111022
Gene: ENSMUSG00000079659
AA Change: K90I

Domain	Start	End	E-Value	Type
Pfam:DUF2678	1	118	2.4e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183347

Predicted Effect

probably benign
Transcript: ENSMUST00000183448

SMART Domains

Protein: ENSMUSP00000139042
Gene: ENSMUSG00000042508

Domain	Start	End	E-Value	Type
Blast:SANT	152	226	4e-48	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000183973

SMART Domains

Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508

Domain	Start	End	E-Value	Type
SANT	135	182	2.52e-10	SMART
SANT	184	243	6.05e-13	SMART
SANT	247	302	5.36e-5	SMART
low complexity region	434	454	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184120

SMART Domains

Protein: ENSMUSP00000138861
Gene: ENSMUSG00000042508

Domain	Start	End	E-Value	Type
Blast:SANT	152	226	6e-48	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184903

Predicted Effect

probably benign
Transcript: ENSMUST00000184401

SMART Domains

Protein: ENSMUSP00000139281
Gene: ENSMUSG00000042508

Domain	Start	End	E-Value	Type
Blast:SANT	152	226	4e-48	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000184159

SMART Domains

Protein: ENSMUSP00000139231
Gene: ENSMUSG00000042508

Domain	Start	End	E-Value	Type
SANT	182	229	2.52e-10	SMART
SANT	231	290	6.05e-13	SMART
SANT	294	349	5.36e-5	SMART
low complexity region	391	406	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184888

SMART Domains

Protein: ENSMUSP00000139164
Gene: ENSMUSG00000042508

Domain	Start	End	E-Value	Type
Blast:SANT	152	226	4e-48	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000184370

Predicted Effect

probably benign
Transcript: ENSMUST00000184620

SMART Domains

Protein: ENSMUSP00000138816
Gene: ENSMUSG00000042508

Domain	Start	End	E-Value	Type
Blast:SANT	111	185	4e-48	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000198935

Predicted Effect

probably benign
Transcript: ENSMUST00000196029

Meta Mutation Damage Score

0.6676

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.1%
20x: 87.1%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,893,380 (GRCm39)	G1277R	probably damaging	Het
Adam10	A	G	9: 70,675,170 (GRCm39)	E593G	possibly damaging	Het
Adh6a	T	C	3: 138,034,829 (GRCm39)		probably benign	Het
Akap6	T	A	12: 52,933,405 (GRCm39)	I299N	probably benign	Het
Bltp1	T	C	3: 37,013,483 (GRCm39)		probably benign	Het
Bod1l	A	T	5: 41,977,359 (GRCm39)	N1318K	probably benign	Het
Ccdc121rt2	A	G	5: 112,598,434 (GRCm39)	D327G	probably benign	Het
Eif2b2	C	A	12: 85,268,335 (GRCm39)	T170K	probably damaging	Het
Ermard	T	A	17: 15,242,239 (GRCm39)	H138Q	probably damaging	Het
Ern2	A	T	7: 121,770,884 (GRCm39)		probably null	Het
Fkbp11	T	C	15: 98,624,430 (GRCm39)	K108R	probably damaging	Het
Golgb1	A	G	16: 36,719,152 (GRCm39)	K353E	possibly damaging	Het
Hipk1	G	T	3: 103,661,641 (GRCm39)		probably null	Het
Itga4	A	G	2: 79,119,649 (GRCm39)	D485G	possibly damaging	Het
Krt1c	C	A	15: 101,726,356 (GRCm39)	G61C	unknown	Het
Med12l	T	A	3: 59,168,253 (GRCm39)	L1561Q	probably damaging	Het
Mtmr14	T	C	6: 113,254,908 (GRCm39)		probably null	Het
Myorg	A	G	4: 41,497,539 (GRCm39)	V697A	probably benign	Het
Naip1	A	G	13: 100,559,584 (GRCm39)	M1140T	probably benign	Het
Naip1	C	T	13: 100,559,593 (GRCm39)	R1137Q	probably benign	Het
Nav2	T	A	7: 49,070,081 (GRCm39)	H251Q	probably benign	Het
Nphp4	A	G	4: 152,646,566 (GRCm39)	D1366G	possibly damaging	Het
Or2b7	A	G	13: 21,739,958 (GRCm39)	V78A	probably benign	Het
Or6c75	A	G	10: 129,336,750 (GRCm39)		probably null	Het
Pde6c	A	C	19: 38,121,628 (GRCm39)	M79L	probably benign	Het
Pld5	C	T	1: 175,803,018 (GRCm39)		probably benign	Het
Polr1g	G	C	7: 19,091,210 (GRCm39)	S299C	probably benign	Het
Rps6kc1	A	G	1: 190,541,142 (GRCm39)	V387A	probably damaging	Het
Tas2r136	T	C	6: 132,754,890 (GRCm39)	D79G	probably benign	Het
Topbp1	A	G	9: 103,192,289 (GRCm39)	H260R	probably damaging	Het
Trappc1	A	G	11: 69,215,636 (GRCm39)		probably benign	Het
Vmn2r125	C	A	4: 156,703,396 (GRCm39)	A258D	probably benign	Het
Zfp300	T	C	X: 20,949,164 (GRCm39)	Y200C	possibly damaging	Het

Other mutations in Tmem243

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01357:Tmem243	APN	5	9,151,348 (GRCm39)	missense	probably damaging	0.99
R0374:Tmem243	UTSW	5	9,151,361 (GRCm39)	missense	possibly damaging	0.93
R1768:Tmem243	UTSW	5	9,168,548 (GRCm39)	missense	probably damaging	1.00
R1796:Tmem243	UTSW	5	9,166,489 (GRCm39)	missense	probably benign	0.37
R6974:Tmem243	UTSW	5	9,151,348 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTGTTCTACAGCCCTGAGTGACC -3'
(R):5'- CACGTCTGTCGATGAGTCTTCAGC -3'

Sequencing Primer
(F):5'- TCTTAACAGACCTAATCTGAGTGCC -3'
(R):5'- CGATGAGTCTTCAGCATACTTTTTTG -3'

Posted On

2013-10-16