Mutagenetix > Incidental Mutation

Incidental Mutation 'R0244:Tmem259'

37991

Institutional Source

Beutler Lab

Gene Symbol

Tmem259

Ensembl Gene

ENSMUSG00000013858

Gene Name

transmembrane protein 259

Synonyms

ORF61, membralin

MMRRC Submission

038482-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0244 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

79812954-79820159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79814797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 240 (D240V)

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: D240V

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

SMART Domains

Protein: ENSMUSP00000056792
Gene: ENSMUSG00000013858
AA Change: D240V

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: D209V

SMART Domains

Protein: ENSMUSP00000119572
Gene: ENSMUSG00000013858
AA Change: D209V

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

Meta Mutation Damage Score

0.9656

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (88/89)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,806,172 (GRCm39)	C434*	probably null	Het
Adprhl1	A	G	8: 13,292,391 (GRCm39)		probably benign	Het
Ago1	T	A	4: 126,357,499 (GRCm39)	I59F	possibly damaging	Het
Arel1	T	C	12: 84,967,467 (GRCm39)	T786A	probably damaging	Het
Arhgap26	A	G	18: 39,496,184 (GRCm39)	K117R	probably benign	Het
Atp6v0b	C	T	4: 117,741,819 (GRCm39)	G204D	probably damaging	Het
Bace2	T	A	16: 97,237,973 (GRCm39)		probably null	Het
Bltp2	T	A	11: 78,177,317 (GRCm39)		probably null	Het
Camk4	G	A	18: 33,312,678 (GRCm39)		probably null	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cep152	T	C	2: 125,406,134 (GRCm39)	E1466G	probably benign	Het
Ces3b	T	C	8: 105,819,267 (GRCm39)	F441S	probably damaging	Het
Cfap52	T	C	11: 67,817,208 (GRCm39)	T562A	possibly damaging	Het
Clca3a2	C	A	3: 144,519,659 (GRCm39)	M238I	possibly damaging	Het
Cntnap5c	A	T	17: 58,409,163 (GRCm39)	D467V	probably damaging	Het
Col7a1	T	A	9: 108,801,252 (GRCm39)		probably null	Het
Cstf1	A	G	2: 172,219,630 (GRCm39)	N247S	possibly damaging	Het
Dffb	G	T	4: 154,059,072 (GRCm39)	N68K	probably benign	Het
Dnaaf10	T	C	11: 17,179,851 (GRCm39)	L284P	probably damaging	Het
Duox2	C	T	2: 122,122,341 (GRCm39)	G595S	probably benign	Het
Eftud2	T	A	11: 102,755,551 (GRCm39)	I228F	probably damaging	Het
Elmo3	T	C	8: 106,035,803 (GRCm39)	V578A	probably benign	Het
Elp2	A	G	18: 24,764,528 (GRCm39)	D625G	possibly damaging	Het
Ep300	C	T	15: 81,524,329 (GRCm39)	P1386S	unknown	Het
Fam120b	A	G	17: 15,637,899 (GRCm39)	D610G	probably damaging	Het
Fastk	A	T	5: 24,647,176 (GRCm39)		probably benign	Het
Fbxl6	A	G	15: 76,421,391 (GRCm39)	S252P	probably damaging	Het
Fbxo43	T	C	15: 36,161,939 (GRCm39)	K423E	probably damaging	Het
Filip1	T	A	9: 79,726,744 (GRCm39)	E625V	possibly damaging	Het
Fkbp9	T	A	6: 56,833,363 (GRCm39)	Y283*	probably null	Het
Gigyf2	T	A	1: 87,306,737 (GRCm39)	D142E	possibly damaging	Het
Gm10142	T	C	10: 77,551,848 (GRCm39)		probably null	Het
Golga5	T	C	12: 102,442,447 (GRCm39)	V262A	probably benign	Het
Hectd4	T	C	5: 121,467,668 (GRCm39)	V2539A	probably benign	Het
Ica1	G	T	6: 8,653,632 (GRCm39)	S335*	probably null	Het
Itga1	A	T	13: 115,143,433 (GRCm39)		probably benign	Het
Itgb1	T	C	8: 129,444,166 (GRCm39)		probably benign	Het
Itpr1	G	A	6: 108,450,550 (GRCm39)	V1960I	probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kprp	C	T	3: 92,732,718 (GRCm39)	V111I	probably benign	Het
Lamc3	T	C	2: 31,830,733 (GRCm39)	I1490T	probably damaging	Het
Lcp1	A	T	14: 75,464,441 (GRCm39)	D554V	possibly damaging	Het
Lgi3	A	G	14: 70,772,138 (GRCm39)	T228A	probably benign	Het
Lipa	A	T	19: 34,478,941 (GRCm39)	F260I	probably damaging	Het
Lrriq1	C	T	10: 103,051,634 (GRCm39)	E373K	probably damaging	Het
Map6	G	A	7: 98,986,043 (GRCm39)	G649D	probably benign	Het
Mccc1	A	G	3: 36,044,196 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,934,683 (GRCm39)	S1799T	probably benign	Het
Mmp23	T	A	4: 155,736,589 (GRCm39)	T151S	probably damaging	Het
Myo1d	T	A	11: 80,565,534 (GRCm39)	N401I	probably damaging	Het
Myo9b	T	A	8: 71,774,457 (GRCm39)	S323T	probably damaging	Het
Nbn	G	T	4: 15,979,353 (GRCm39)	W446L	probably benign	Het
Nedd1	A	T	10: 92,552,127 (GRCm39)		probably benign	Het
Ngef	C	A	1: 87,415,684 (GRCm39)		probably benign	Het
Nup153	A	T	13: 46,847,412 (GRCm39)	N672K	probably benign	Het
Or10d1b	T	A	9: 39,613,469 (GRCm39)	I199F	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or4e2	T	C	14: 52,687,969 (GRCm39)	V33A	probably benign	Het
Or4f57	T	C	2: 111,791,361 (GRCm39)	N19S	probably benign	Het
Pakap	T	G	4: 57,710,177 (GRCm39)	V374G	possibly damaging	Het
Pdlim3	C	A	8: 46,361,497 (GRCm39)		probably benign	Het
Pmfbp1	G	A	8: 110,268,305 (GRCm39)	E951K	probably damaging	Het
Pop1	T	A	15: 34,516,037 (GRCm39)	C548*	probably null	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ptpdc1	A	T	13: 48,739,456 (GRCm39)	N658K	probably benign	Het
Ptprk	A	C	10: 28,082,221 (GRCm39)	E63D	possibly damaging	Het
Rtf1	C	T	2: 119,563,358 (GRCm39)	R712W	probably damaging	Het
Samd7	A	C	3: 30,805,222 (GRCm39)	T2P	probably benign	Het
Sft2d1	A	G	17: 8,538,254 (GRCm39)	T52A	probably benign	Het
Slc25a26	A	G	6: 94,487,814 (GRCm39)	H91R	probably damaging	Het
Slc5a4a	A	G	10: 76,024,986 (GRCm39)	E621G	possibly damaging	Het
Slf1	A	T	13: 77,274,751 (GRCm39)	L28*	probably null	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Sorcs2	G	A	5: 36,554,897 (GRCm39)		probably benign	Het
Tacc2	T	C	7: 130,353,555 (GRCm39)		probably benign	Het
Tas2r140	A	G	6: 133,032,290 (GRCm39)	V156A	possibly damaging	Het
Terf2ip	C	A	8: 112,744,796 (GRCm39)	T371K	possibly damaging	Het
Tifa	C	T	3: 127,590,537 (GRCm39)	L103F	probably damaging	Het
Tmco3	A	G	8: 13,342,037 (GRCm39)	N104D	probably damaging	Het
Trim60	C	T	8: 65,453,700 (GRCm39)	R183H	probably benign	Het
Trps1	T	C	15: 50,528,139 (GRCm39)	N725D	probably damaging	Het
Ttn	C	T	2: 76,645,150 (GRCm39)	V12902M	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Unc79	A	G	12: 103,079,150 (GRCm39)	K1772E	probably damaging	Het
Vwde	C	T	6: 13,193,125 (GRCm39)	V405I	probably benign	Het
Wdr18	T	A	10: 79,802,242 (GRCm39)	D290E	probably damaging	Het
Wwc2	G	A	8: 48,353,756 (GRCm39)	A126V	probably benign	Het
Zfp882	A	T	8: 72,667,367 (GRCm39)	I105F	possibly damaging	Het
Zfp942	A	T	17: 22,147,553 (GRCm39)	C359S	probably benign	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
IGL02735:Tmem259	APN	10	79,814,973 (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

Predicted Primers

PCR Primer
(F):5'- TAGTGCTCCCCAGAGACCACATTC -3'
(R):5'- AATATGGCTTCCTGCGGCTATCCC -3'

Sequencing Primer
(F):5'- AGAGACCACATTCCTCAAGAAG -3'
(R):5'- CGGCTATCCCAAGCCAC -3'

Posted On

2013-05-23