Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02364:Tmem68'

290648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem68

Ensembl Gene

ENSMUSG00000028232

Gene Name

transmembrane protein 68

Synonyms

Diesl, 2010300G19Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

IGL02364

Quality Score

Status

Chromosome

Chromosomal Location

3549041-3574853 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3560536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 216 (R216L)

Ref Sequence

ENSEMBL: ENSMUSP00000029891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029891] [ENSMUST00000154922]

AlphaFold

Q9D850

Predicted Effect

probably damaging
Transcript: ENSMUST00000029891
AA Change: R216L

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

SMART Domains

Protein: ENSMUSP00000029891
Gene: ENSMUSG00000028232
AA Change: R216L

Domain	Start	End	E-Value	Type
transmembrane domain	51	73	N/A	INTRINSIC
PlsC	123	238	3.98e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154922

SMART Domains

Protein: ENSMUSP00000123591
Gene: ENSMUSG00000028232

Domain	Start	End	E-Value	Type
transmembrane domain	51	73	N/A	INTRINSIC
Blast:PlsC	75	112	4e-15	BLAST
Blast:PlsC	123	163	1e-21	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bdp1	A	T	13: 100,191,816 (GRCm39)		probably benign	Het
Car8	T	C	4: 8,183,321 (GRCm39)	I225V	probably benign	Het
Cc2d2a	T	A	5: 43,892,792 (GRCm39)	N1390K	probably damaging	Het
Coasy	T	C	11: 100,975,184 (GRCm39)	V247A	possibly damaging	Het
Dgkq	A	G	5: 108,804,310 (GRCm39)	V50A	probably benign	Het
Dixdc1	A	T	9: 50,593,931 (GRCm39)		probably benign	Het
Dmxl2	G	A	9: 54,301,127 (GRCm39)	A2328V	probably benign	Het
Exoc3l	C	A	8: 106,017,209 (GRCm39)	V593L	possibly damaging	Het
Eya3	T	C	4: 132,437,366 (GRCm39)	S409P	probably damaging	Het
Garin4	T	C	1: 190,895,713 (GRCm39)	N310S	probably benign	Het
Gbp4	A	T	5: 105,284,740 (GRCm39)	S50T	probably damaging	Het
Gm5885	A	G	6: 133,507,092 (GRCm39)		noncoding transcript	Het
H2ap	G	T	X: 9,713,629 (GRCm39)		probably benign	Het
Igkv12-89	A	T	6: 68,811,970 (GRCm39)	Y66*	probably null	Het
Itgax	G	A	7: 127,739,154 (GRCm39)	V601M	possibly damaging	Het
Kank3	T	C	17: 34,037,824 (GRCm39)	V291A	probably benign	Het
Klhl9	A	G	4: 88,639,407 (GRCm39)	M278T	probably damaging	Het
Lrrc43	G	A	5: 123,639,275 (GRCm39)	D435N	possibly damaging	Het
Ly75	A	T	2: 60,188,851 (GRCm39)	S292T	probably damaging	Het
Mchr1	G	A	15: 81,121,480 (GRCm39)	V77I	probably benign	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Neb	G	T	2: 52,186,266 (GRCm39)	Y935*	probably null	Het
Nt5el	T	A	13: 105,218,808 (GRCm39)	D47E	probably damaging	Het
Phf20	A	G	2: 156,136,017 (GRCm39)	E612G	possibly damaging	Het
Pkhd1	A	G	1: 20,271,007 (GRCm39)	L3182P	probably benign	Het
Rnf130	T	C	11: 49,986,667 (GRCm39)	V337A	probably benign	Het
Slfn10-ps	T	C	11: 82,923,117 (GRCm39)		noncoding transcript	Het
Sorcs1	G	A	19: 50,322,036 (GRCm39)	P249L	probably damaging	Het
Spata13	C	T	14: 60,928,723 (GRCm39)	R94C	probably damaging	Het
Stk38	C	T	17: 29,210,390 (GRCm39)	R63Q	probably benign	Het
Tmem220	C	A	11: 66,925,014 (GRCm39)	H174N	probably benign	Het
Trim29	G	A	9: 43,222,599 (GRCm39)	V143M	probably benign	Het
Ubqln2	T	C	X: 152,282,906 (GRCm39)	L486P	possibly damaging	Het
Usp17le	G	A	7: 104,417,982 (GRCm39)	Q387*	probably null	Het
Vps33b	A	G	7: 79,937,587 (GRCm39)	E445G	probably damaging	Het

Other mutations in Tmem68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02433:Tmem68	APN	4	3,569,624 (GRCm39)	missense	possibly damaging	0.79
IGL02537:Tmem68	APN	4	3,569,649 (GRCm39)	missense	possibly damaging	0.95
IGL02886:Tmem68	APN	4	3,569,361 (GRCm39)	splice site	probably benign
R0600:Tmem68	UTSW	4	3,569,667 (GRCm39)	missense	probably damaging	0.99
R1670:Tmem68	UTSW	4	3,560,627 (GRCm39)	missense	probably damaging	0.99
R3001:Tmem68	UTSW	4	3,569,588 (GRCm39)	missense	probably damaging	1.00
R3002:Tmem68	UTSW	4	3,569,588 (GRCm39)	missense	probably damaging	1.00
R3086:Tmem68	UTSW	4	3,569,594 (GRCm39)	missense	possibly damaging	0.95
R4428:Tmem68	UTSW	4	3,569,534 (GRCm39)	missense	probably benign	0.33
R5221:Tmem68	UTSW	4	3,560,561 (GRCm39)	missense	possibly damaging	0.83
R5640:Tmem68	UTSW	4	3,569,512 (GRCm39)	missense	probably benign
R6919:Tmem68	UTSW	4	3,569,669 (GRCm39)	missense	possibly damaging	0.68
R7122:Tmem68	UTSW	4	3,564,107 (GRCm39)	missense	probably benign	0.36
R7857:Tmem68	UTSW	4	3,551,825 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16