Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Tmem260'

322290

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

041645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48683581-48761703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48742761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 532 (Y532F)

Ref Sequence

ENSEMBL: ENSMUSP00000154083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111735] [ENSMUST00000124720] [ENSMUST00000153765] [ENSMUST00000226422] [ENSMUST00000227440]

AlphaFold

Q8BMD6

Predicted Effect

probably benign
Transcript: ENSMUST00000111735
AA Change: Y532F

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: Y532F

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
Pfam:DUF2723	48	211	1.9e-43	PFAM
transmembrane domain	316	338	N/A	INTRINSIC
transmembrane domain	353	372	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124720
AA Change: Y380F

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: Y380F

Domain	Start	End	E-Value	Type
Pfam:DUF2723	1	61	4.6e-9	PFAM
transmembrane domain	65	87	N/A	INTRINSIC
transmembrane domain	164	186	N/A	INTRINSIC
transmembrane domain	201	220	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133744

Predicted Effect

probably benign
Transcript: ENSMUST00000153765

SMART Domains

Protein: ENSMUSP00000116155
Gene: ENSMUSG00000036339

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
Pfam:DUF2723	48	111	8.3e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226344

Predicted Effect

probably benign
Transcript: ENSMUST00000226422
AA Change: Y532F

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000227440
AA Change: Y532F

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,792,835 (GRCm39)		probably null	Het
Adgrf2	T	A	17: 43,021,013 (GRCm39)	T604S	probably damaging	Het
Akap8l	T	A	17: 32,540,905 (GRCm39)	K533*	probably null	Het
Appbp2	T	C	11: 85,125,502 (GRCm39)	Y45C	probably damaging	Het
Arap2	T	C	5: 62,828,322 (GRCm39)	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,422,697 (GRCm39)	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,312,339 (GRCm39)	N493K	probably benign	Het
Bcr	T	C	10: 74,960,943 (GRCm39)	I458T	probably damaging	Het
Brd4	G	A	17: 32,433,756 (GRCm39)	T468I	probably benign	Het
Cdh23	T	A	10: 60,146,940 (GRCm39)	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 112,495,417 (GRCm39)	Y267C	probably damaging	Het
Chd6	C	A	2: 160,803,211 (GRCm39)	A2156S	probably benign	Het
Dazap2	C	A	15: 100,515,971 (GRCm39)	P100T	probably damaging	Het
Disp1	T	A	1: 182,869,208 (GRCm39)	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 71,073,038 (GRCm39)	S686T	probably benign	Het
Dst	C	T	1: 34,231,421 (GRCm39)	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,412,698 (GRCm39)	N279D	probably benign	Het
Exoc3l	T	C	8: 106,016,593 (GRCm39)	*740W	probably null	Het
Exoc5	A	T	14: 49,252,937 (GRCm39)	C625*	probably null	Het
Fam98b	A	T	2: 117,090,712 (GRCm39)	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,945,776 (GRCm39)	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,732,848 (GRCm39)	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,499,371 (GRCm39)	V1247A	probably benign	Het
Fmo4	A	G	1: 162,632,748 (GRCm39)	V201A	probably damaging	Het
Fras1	G	A	5: 96,762,763 (GRCm39)	G755D	probably benign	Het
Grid2	T	C	6: 63,886,029 (GRCm39)	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,608,784 (GRCm39)	Q376R	probably damaging	Het
Impdh2	T	C	9: 108,442,155 (GRCm39)	M414T	probably damaging	Het
Itm2c	A	G	1: 85,834,750 (GRCm39)	T160A	probably damaging	Het
Kcna2	T	A	3: 107,012,509 (GRCm39)	D363E	probably benign	Het
Lama2	C	T	10: 27,223,050 (GRCm39)	C412Y	probably damaging	Het
Lims2	C	G	18: 32,089,390 (GRCm39)	T151S	probably benign	Het
Mier1	T	C	4: 103,019,628 (GRCm39)	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,239,180 (GRCm39)	W249R	probably benign	Het
Mtor	A	G	4: 148,634,609 (GRCm39)	H2410R	probably benign	Het
Mvp	C	T	7: 126,588,875 (GRCm39)	A631T	probably benign	Het
Nepro	T	C	16: 44,556,192 (GRCm39)	V450A	possibly damaging	Het
Ngrn	T	C	7: 79,914,269 (GRCm39)	V140A	probably damaging	Het
Nobox	T	C	6: 43,282,942 (GRCm39)	E231G	probably benign	Het
Or10al7	A	T	17: 38,366,163 (GRCm39)	I98N	probably damaging	Het
P3h2	T	A	16: 25,923,971 (GRCm39)	I155F	probably benign	Het
Pcdha3	C	T	18: 37,081,144 (GRCm39)	R629C	probably damaging	Het
Pramel24	A	T	4: 143,453,416 (GRCm39)	K175*	probably null	Het
Riok3	AGAAGCGG	AG	18: 12,268,998 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,110,020 (GRCm39)	I1675T	probably benign	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,541,758 (GRCm39)	T182N	possibly damaging	Het
Slc52a3	T	A	2: 151,847,660 (GRCm39)	I256N	possibly damaging	Het
Sox9	T	C	11: 112,675,980 (GRCm39)	S390P	possibly damaging	Het
Tango2	T	C	16: 18,120,654 (GRCm39)		probably benign	Het
Tas1r1	T	C	4: 152,116,614 (GRCm39)	E340G	possibly damaging	Het
Tek	G	A	4: 94,718,207 (GRCm39)	G524R	probably damaging	Het
Tsks	C	A	7: 44,607,353 (GRCm39)	L559I	probably damaging	Het
Unc79	C	A	12: 103,088,612 (GRCm39)	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,211,133 (GRCm39)	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,600,832 (GRCm39)	C710Y	probably benign	Het
Zfp119b	G	T	17: 56,245,926 (GRCm39)	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,118,790 (GRCm39)	R68*	probably null	Het
Zfp229	T	A	17: 21,965,802 (GRCm39)	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411 (GRCm39)	H126Y	probably benign	Het
Zfp52	C	A	17: 21,780,459 (GRCm39)	Y102*	probably null	Het
Zfp616	T	A	11: 73,974,526 (GRCm39)	M265K	probably benign	Het
Zfyve9	A	T	4: 108,538,173 (GRCm39)	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,747,726 (GRCm39)	Y203C	probably damaging	Het

Other mutations in Tmem260

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Tmem260	APN	14	48,724,336 (GRCm39)	missense	probably benign	0.27
IGL00338:Tmem260	APN	14	48,715,093 (GRCm39)	missense	probably damaging	0.97
IGL00508:Tmem260	APN	14	48,746,578 (GRCm39)	missense	probably damaging	0.99
IGL01308:Tmem260	APN	14	48,749,415 (GRCm39)	missense	probably damaging	1.00
IGL01548:Tmem260	APN	14	48,717,782 (GRCm39)	missense	possibly damaging	0.60
IGL01952:Tmem260	APN	14	48,709,933 (GRCm39)	missense	probably damaging	1.00
IGL03068:Tmem260	APN	14	48,724,371 (GRCm39)	splice site	probably benign
IGL03081:Tmem260	APN	14	48,733,750 (GRCm39)	missense	probably benign	0.14
R0131:Tmem260	UTSW	14	48,720,779 (GRCm39)	nonsense	probably null
R0131:Tmem260	UTSW	14	48,720,779 (GRCm39)	nonsense	probably null
R0132:Tmem260	UTSW	14	48,720,779 (GRCm39)	nonsense	probably null
R0149:Tmem260	UTSW	14	48,689,504 (GRCm39)	missense	possibly damaging	0.88
R0361:Tmem260	UTSW	14	48,689,504 (GRCm39)	missense	possibly damaging	0.88
R0396:Tmem260	UTSW	14	48,724,324 (GRCm39)	missense	possibly damaging	0.83
R0524:Tmem260	UTSW	14	48,709,935 (GRCm39)	missense	probably benign	0.00
R1734:Tmem260	UTSW	14	48,746,550 (GRCm39)	missense	probably benign	0.00
R2152:Tmem260	UTSW	14	48,715,066 (GRCm39)	missense	possibly damaging	0.62
R2474:Tmem260	UTSW	14	48,733,781 (GRCm39)	missense	probably null	0.90
R2928:Tmem260	UTSW	14	48,724,207 (GRCm39)	missense	probably damaging	1.00
R2999:Tmem260	UTSW	14	48,722,446 (GRCm39)	missense	possibly damaging	0.92
R3030:Tmem260	UTSW	14	48,722,458 (GRCm39)	missense	probably damaging	1.00
R4276:Tmem260	UTSW	14	48,715,093 (GRCm39)	missense	probably damaging	0.97
R4277:Tmem260	UTSW	14	48,715,093 (GRCm39)	missense	probably damaging	0.97
R4278:Tmem260	UTSW	14	48,715,093 (GRCm39)	missense	probably damaging	0.97
R4791:Tmem260	UTSW	14	48,749,451 (GRCm39)	intron	probably benign
R4792:Tmem260	UTSW	14	48,749,451 (GRCm39)	intron	probably benign
R4810:Tmem260	UTSW	14	48,709,930 (GRCm39)	missense	probably damaging	0.99
R5189:Tmem260	UTSW	14	48,746,573 (GRCm39)	missense	probably benign	0.01
R5280:Tmem260	UTSW	14	48,742,716 (GRCm39)	missense	probably benign	0.02
R5289:Tmem260	UTSW	14	48,724,267 (GRCm39)	missense	possibly damaging	0.79
R5322:Tmem260	UTSW	14	48,724,306 (GRCm39)	missense	probably damaging	0.99
R5491:Tmem260	UTSW	14	48,749,627 (GRCm39)	splice site	probably null
R5593:Tmem260	UTSW	14	48,711,501 (GRCm39)	missense	probably benign	0.38
R5606:Tmem260	UTSW	14	48,722,437 (GRCm39)	missense	probably damaging	1.00
R5824:Tmem260	UTSW	14	48,742,785 (GRCm39)	missense	probably damaging	1.00
R5947:Tmem260	UTSW	14	48,724,258 (GRCm39)	missense	possibly damaging	0.93
R6587:Tmem260	UTSW	14	48,733,913 (GRCm39)	splice site	probably null
R7234:Tmem260	UTSW	14	48,742,786 (GRCm39)	nonsense	probably null
R7236:Tmem260	UTSW	14	48,746,647 (GRCm39)	splice site	probably null
R7836:Tmem260	UTSW	14	48,746,519 (GRCm39)	missense	probably benign	0.04
R8795:Tmem260	UTSW	14	48,689,370 (GRCm39)	missense	probably damaging	1.00
R8895:Tmem260	UTSW	14	48,737,845 (GRCm39)	unclassified	probably benign
R9056:Tmem260	UTSW	14	48,717,774 (GRCm39)	missense	probably benign
R9096:Tmem260	UTSW	14	48,757,803 (GRCm39)	missense	unknown
R9384:Tmem260	UTSW	14	48,724,276 (GRCm39)	missense	probably benign	0.00
R9634:Tmem260	UTSW	14	48,709,816 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACGGTTCTCATTGGTTCC -3'
(R):5'- AAGGGTATCTCAGAATGTAGCC -3'

Sequencing Primer
(F):5'- AGTTTGCTCCTTCCTGTAGTG -3'
(R):5'- GGTATCTCAGAATGTAGCCTTTTTC -3'

Posted On

2015-06-20