Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02735:Tmem259'

305624

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem259

Ensembl Gene

ENSMUSG00000013858

Gene Name

transmembrane protein 259

Synonyms

ORF61, membralin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02735

Quality Score

Status

Chromosome

Chromosomal Location

79812954-79820159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79814973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 217 (T217I)

Ref Sequence

ENSEMBL: ENSMUSP00000056792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045085] [ENSMUST00000052885]

AlphaFold

Q8CIV2

Predicted Effect

probably benign
Transcript: ENSMUST00000045085

SMART Domains

Protein: ENSMUSP00000048576
Gene: ENSMUSG00000035745

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	39	60	N/A	INTRINSIC
low complexity region	217	230	N/A	INTRINSIC
PBPe	458	810	1.01e-82	SMART
Lig_chan-Glu_bd	459	522	6.6e-20	SMART
transmembrane domain	826	848	N/A	INTRINSIC
low complexity region	914	930	N/A	INTRINSIC
coiled coil region	950	984	N/A	INTRINSIC
low complexity region	989	1001	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000052885
AA Change: T217I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056792
Gene: ENSMUSG00000013858
AA Change: T217I

Domain	Start	End	E-Value	Type
Pfam:Membralin	34	131	3.3e-44	PFAM
Pfam:Membralin	138	393	3.9e-130	PFAM
transmembrane domain	394	411	N/A	INTRINSIC
low complexity region	455	470	N/A	INTRINSIC
low complexity region	483	521	N/A	INTRINSIC
low complexity region	531	544	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000124536
AA Change: T186I

SMART Domains

Protein: ENSMUSP00000119572
Gene: ENSMUSG00000013858
AA Change: T186I

Domain	Start	End	E-Value	Type
Pfam:Membralin	4	101	1.6e-44	PFAM
Pfam:Membralin	108	297	7.7e-83	PFAM
Pfam:Membralin	316	387	5e-42	PFAM
transmembrane domain	388	405	N/A	INTRINSIC
low complexity region	449	464	N/A	INTRINSIC
low complexity region	477	515	N/A	INTRINSIC
low complexity region	525	538	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126383

Predicted Effect

probably benign
Transcript: ENSMUST00000131816

SMART Domains

Protein: ENSMUSP00000122984
Gene: ENSMUSG00000035745

Domain	Start	End	E-Value	Type
Pfam:Lig_chan	1	368	2.2e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132080

Predicted Effect

probably benign
Transcript: ENSMUST00000149148

SMART Domains

Protein: ENSMUSP00000116887
Gene: ENSMUSG00000035745

Domain	Start	End	E-Value	Type
PBPe	100	452	1.01e-82	SMART
Lig_chan-Glu_bd	101	164	6.6e-20	SMART
transmembrane domain	468	490	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
Acss1	A	T	2: 150,480,387 (GRCm39)	V228E	probably damaging	Het
Ampd1	T	A	3: 102,992,693 (GRCm39)	M145K	probably damaging	Het
Ankhd1	G	A	18: 36,781,599 (GRCm39)	S2217N	probably benign	Het
Asph	T	A	4: 9,598,759 (GRCm39)	D211V	probably damaging	Het
Cd55b	A	T	1: 130,316,413 (GRCm39)	W379R	probably damaging	Het
Derl3	A	G	10: 75,730,950 (GRCm39)	T201A	probably damaging	Het
Efcab6	A	G	15: 83,783,898 (GRCm39)	L1008P	probably damaging	Het
Eif4g3	A	G	4: 137,853,522 (GRCm39)	I363V	probably benign	Het
Heatr5a	A	G	12: 51,961,804 (GRCm39)	F1058L	probably damaging	Het
Hmcn1	A	T	1: 150,522,583 (GRCm39)	M3439K	probably benign	Het
Ift140	C	A	17: 25,253,009 (GRCm39)		probably benign	Het
Itgad	A	G	7: 127,792,888 (GRCm39)	Y832C	probably damaging	Het
Itgb2	T	A	10: 77,385,833 (GRCm39)	D265E	possibly damaging	Het
Kif19a	A	T	11: 114,676,393 (GRCm39)	E449V	probably damaging	Het
Krt40	T	C	11: 99,429,461 (GRCm39)	E291G	probably damaging	Het
Lama2	T	C	10: 26,980,124 (GRCm39)	N1897S	probably damaging	Het
Lepr	A	G	4: 101,639,835 (GRCm39)	Y767C	probably damaging	Het
Lrrtm4	A	G	6: 80,786,031 (GRCm39)	H546R	probably benign	Het
Marchf6	A	G	15: 31,486,266 (GRCm39)	S362P	probably benign	Het
Med12l	A	G	3: 59,001,067 (GRCm39)	Y734C	probably damaging	Het
Mrps18a	C	T	17: 46,433,725 (GRCm39)	R74C	probably damaging	Het
Mvk	A	G	5: 114,588,880 (GRCm39)	E174G	probably benign	Het
Naip2	A	G	13: 100,296,722 (GRCm39)	S1105P	probably damaging	Het
Nrxn3	A	G	12: 89,221,624 (GRCm39)	M468V	probably benign	Het
Obscn	T	C	11: 58,984,175 (GRCm39)	E1760G	probably damaging	Het
Pcsk5	C	A	19: 17,652,832 (GRCm39)	G285W	probably damaging	Het
Pgpep1l	A	G	7: 67,886,721 (GRCm39)	I196T	probably benign	Het
Phf14	T	C	6: 11,987,611 (GRCm39)	M630T	probably benign	Het
Plod2	T	C	9: 92,477,442 (GRCm39)		probably benign	Het
Poldip2	G	A	11: 78,403,162 (GRCm39)	A9T	probably benign	Het
Pou2f1	A	G	1: 165,703,396 (GRCm39)	S718P	probably damaging	Het
Pramel34	G	A	5: 93,786,503 (GRCm39)	P89S	possibly damaging	Het
Ptpre	A	T	7: 135,269,296 (GRCm39)	Y246F	probably damaging	Het
Pudp	T	C	18: 50,701,403 (GRCm39)	H110R	probably benign	Het
Scaf4	C	T	16: 90,042,403 (GRCm39)	G646E	unknown	Het
Sec16a	T	A	2: 26,318,149 (GRCm39)		probably benign	Het
Serpina5	A	G	12: 104,070,116 (GRCm39)	T338A	probably benign	Het
Shisa5	T	G	9: 108,885,080 (GRCm39)	F118V	probably damaging	Het
Slc6a21	G	A	7: 44,936,061 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,630,126 (GRCm39)	V473E	probably benign	Het
Styxl1	A	G	5: 135,787,996 (GRCm39)	I165T	probably damaging	Het
Tal2	T	A	4: 53,785,906 (GRCm39)	I29N	probably damaging	Het
Tas2r134	T	C	2: 51,517,839 (GRCm39)	I106T	probably damaging	Het
Trpc6	T	C	9: 8,655,339 (GRCm39)	I723T	probably damaging	Het
Vmn1r211	A	T	13: 23,036,418 (GRCm39)	V83D	probably damaging	Het
Vmn2r103	G	T	17: 20,032,510 (GRCm39)	M761I	probably benign	Het
Ybey	A	T	10: 76,304,160 (GRCm39)	I14N	probably damaging	Het

Other mutations in Tmem259

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Tmem259	APN	10	79,815,568 (GRCm39)	missense	probably benign	0.12
IGL01022:Tmem259	APN	10	79,819,808 (GRCm39)	missense	probably damaging	1.00
IGL02113:Tmem259	APN	10	79,814,543 (GRCm39)	missense	probably benign	0.00
IGL02218:Tmem259	APN	10	79,814,151 (GRCm39)	missense	possibly damaging	0.91
IGL02272:Tmem259	APN	10	79,814,297 (GRCm39)	missense	probably damaging	1.00
IGL02648:Tmem259	APN	10	79,813,651 (GRCm39)	missense	probably damaging	1.00
R0244:Tmem259	UTSW	10	79,814,797 (GRCm39)	missense	probably damaging	1.00
R0535:Tmem259	UTSW	10	79,814,429 (GRCm39)	missense	probably damaging	1.00
R3824:Tmem259	UTSW	10	79,814,282 (GRCm39)	missense	possibly damaging	0.91
R3825:Tmem259	UTSW	10	79,814,282 (GRCm39)	missense	possibly damaging	0.91
R5564:Tmem259	UTSW	10	79,814,442 (GRCm39)	splice site	probably null
R6773:Tmem259	UTSW	10	79,813,422 (GRCm39)	missense	possibly damaging	0.95
R6979:Tmem259	UTSW	10	79,814,391 (GRCm39)	missense	possibly damaging	0.51
R7288:Tmem259	UTSW	10	79,814,300 (GRCm39)	missense	probably damaging	1.00
R7473:Tmem259	UTSW	10	79,815,506 (GRCm39)	missense	possibly damaging	0.48
R7677:Tmem259	UTSW	10	79,814,414 (GRCm39)	missense	probably damaging	1.00
R8531:Tmem259	UTSW	10	79,813,819 (GRCm39)	missense	probably damaging	0.98
R8826:Tmem259	UTSW	10	79,814,983 (GRCm39)	missense	probably damaging	1.00
Z1177:Tmem259	UTSW	10	79,814,785 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16