Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02113:Tmem259'

280244

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 #

IGL02113

Quality Score

Status

Chromosome

Chromosomal Location

79812954-79820159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79814543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 300 (V300A)

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 benign
Transcript: ENSMUST00000052885
AA Change: V300A

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

SMART Domains

Protein: ENSMUSP00000056792
Gene: ENSMUSG00000013858
AA Change: V300A

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: V269A

SMART Domains

Protein: ENSMUSP00000119572
Gene: ENSMUSG00000013858
AA Change: V269A

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 121,904,127 (GRCm39)	H726L	possibly damaging	Het
Aqr	A	T	2: 113,950,508 (GRCm39)	Y900*	probably null	Het
Atp11a	G	T	8: 12,915,048 (GRCm39)	R1155S	probably benign	Het
Bahd1	A	G	2: 118,747,686 (GRCm39)	D435G	probably benign	Het
Brca2	A	G	5: 150,464,444 (GRCm39)	T1403A	possibly damaging	Het
Cc2d2a	T	A	5: 43,842,590 (GRCm39)		probably null	Het
Cog7	A	G	7: 121,524,703 (GRCm39)	I697T	probably damaging	Het
Dclre1a	A	G	19: 56,529,964 (GRCm39)	V791A	probably damaging	Het
Dgki	A	G	6: 36,890,560 (GRCm39)		probably benign	Het
Dpyd	A	G	3: 118,792,868 (GRCm39)	Y525C	probably benign	Het
Eepd1	T	C	9: 25,394,009 (GRCm39)	L91P	probably damaging	Het
Foxf1	T	A	8: 121,811,304 (GRCm39)	L56H	probably damaging	Het
Fry	A	T	5: 150,323,070 (GRCm39)	M1074L	probably benign	Het
Gbx1	T	C	5: 24,709,874 (GRCm39)	T324A	probably damaging	Het
Gfpt1	T	A	6: 87,064,349 (GRCm39)	N646K	probably benign	Het
Gm10258	C	T	3: 30,322,542 (GRCm39)		probably benign	Het
Gm12887	T	C	4: 121,473,692 (GRCm39)	M53V	probably benign	Het
Hoxa11	C	T	6: 52,222,297 (GRCm39)	G135S	probably damaging	Het
Mettl6	A	T	14: 31,204,788 (GRCm39)	Y211*	probably null	Het
Moxd2	T	C	6: 40,862,338 (GRCm39)	I160M	probably benign	Het
Mphosph10	G	A	7: 64,026,555 (GRCm39)		probably benign	Het
Mrpl19	T	A	6: 81,942,896 (GRCm39)	M5L	probably benign	Het
Nbea	A	G	3: 55,899,913 (GRCm39)	V1412A	probably benign	Het
Nceh1	G	T	3: 27,277,040 (GRCm39)	S121I	probably damaging	Het
Ntan1	A	G	16: 13,653,008 (GRCm39)	T217A	probably damaging	Het
Ogfod1	C	T	8: 94,790,841 (GRCm39)	A504V	probably damaging	Het
Or52r1c	A	T	7: 102,735,057 (GRCm39)	I111L	possibly damaging	Het
Pde3b	G	A	7: 114,126,141 (GRCm39)	V792M	probably damaging	Het
Pde9a	A	T	17: 31,678,944 (GRCm39)	M262L	probably benign	Het
Pi4ka	A	G	16: 17,191,279 (GRCm39)	V206A	probably benign	Het
Pkp1	A	T	1: 135,811,652 (GRCm39)	N406K	possibly damaging	Het
Rcn3	A	G	7: 44,732,762 (GRCm39)	I302T	probably damaging	Het
Rfx6	A	G	10: 51,554,108 (GRCm39)	Q68R	probably benign	Het
Rpgrip1	A	G	14: 52,371,301 (GRCm39)	D340G	possibly damaging	Het
Scn10a	C	T	9: 119,438,956 (GRCm39)	G1638S	probably damaging	Het
Serpinb9f	A	T	13: 33,518,451 (GRCm39)	H317L	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Slc40a1	A	G	1: 45,950,054 (GRCm39)	I466T	probably benign	Het
Smyd2	A	T	1: 189,614,414 (GRCm39)	S371R	probably damaging	Het
Snap47	A	C	11: 59,319,262 (GRCm39)	I292S	probably damaging	Het
Tbx4	A	G	11: 85,803,090 (GRCm39)	E322G	possibly damaging	Het
Tg	A	G	15: 66,577,179 (GRCm39)	T1501A	probably benign	Het
Usp7	A	G	16: 8,534,377 (GRCm39)		probably null	Het
Vmn2r94	G	T	17: 18,477,937 (GRCm39)	T158K	probably damaging	Het
Vmn2r95	G	T	17: 18,660,169 (GRCm39)	A194S	possibly damaging	Het
Zfp944	A	T	17: 22,558,047 (GRCm39)	I400N	possibly damaging	Het
Zmynd12	T	A	4: 119,291,194 (GRCm39)	I53K	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
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
IGL02735:Tmem259	APN	10	79,814,973 (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