Mutagenetix > Incidental Mutations

Incidental Mutation 'R5606:Tmem260'

439309

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

043157-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5606 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48484980 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 324 (M324K)

Ref Sequence

ENSEMBL: ENSMUSP00000154360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111735] [ENSMUST00000124720] [ENSMUST00000153765] [ENSMUST00000226422] [ENSMUST00000227440] [ENSMUST00000228697]

AlphaFold

Q8BMD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000111735
AA Change: M324K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: M324K

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 damaging
Transcript: ENSMUST00000124720
AA Change: M172K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: M172K

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: ENSMUST00000226373

Predicted Effect

probably damaging
Transcript: ENSMUST00000226422
AA Change: M324K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227440
AA Change: M324K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228697

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a7	A	G	19: 20,722,367	S75P	probably damaging	Het
Ankib1	A	T	5: 3,701,907	I711N	probably damaging	Het
Ankmy2	A	G	12: 36,165,921	N40S	probably benign	Het
Armc8	T	C	9: 99,536,262	K80E	probably benign	Het
BC005561	T	C	5: 104,521,878	I1422T	probably benign	Het
Blm	C	A	7: 80,460,832		probably null	Het
Cand1	C	A	10: 119,211,454	Q710H	possibly damaging	Het
Ckap2l	A	T	2: 129,286,039	I73N	probably damaging	Het
Ddx27	T	A	2: 167,019,966	D129E	probably benign	Het
Dnm3	T	C	1: 162,286,018	E491G	probably damaging	Het
Fgd6	C	A	10: 94,138,328	Y1310*	probably null	Het
Gm7534	A	C	4: 134,200,212	V410G	probably benign	Het
Hnrnph3	C	T	10: 63,019,443	R21H	possibly damaging	Het
Hs3st4	C	A	7: 124,397,142	Q344K	probably damaging	Het
Hyal3	T	C	9: 107,585,066	S100P	probably benign	Het
Map3k19	G	A	1: 127,822,957	R886C	probably benign	Het
Mmrn2	G	A	14: 34,397,624	D187N	probably damaging	Het
Myo5c	G	A	9: 75,275,508	A810T	probably damaging	Het
Noxa1	T	A	2: 25,086,280	E332V	possibly damaging	Het
Olfr129	T	C	17: 38,054,802	T264A	probably damaging	Het
Olfr1356	A	G	10: 78,847,561	M118T	probably benign	Het
Olfr536	T	A	7: 140,503,800	I220F	probably damaging	Het
Olfr550	T	C	7: 102,579,274	S260P	probably damaging	Het
Parg	T	A	14: 32,262,736	V241E	probably damaging	Het
Pitrm1	T	A	13: 6,560,065	V391D	probably damaging	Het
Plch1	A	T	3: 63,740,687	V421E	probably benign	Het
Slc27a2	C	T	2: 126,564,690	A98V	probably damaging	Het
Spta1	A	T	1: 174,219,902	H1704L	probably damaging	Het
Tbpl2	G	A	2: 24,087,233	P258S	possibly damaging	Het
Tlr11	T	C	14: 50,362,260	C568R	probably benign	Het
Tmprss11g	T	A	5: 86,487,410	T402S	probably damaging	Het
Trim21	C	G	7: 102,559,606	R302P	probably damaging	Het
Uox	T	A	3: 146,610,302	Y21*	probably null	Het
Vmn1r74	A	G	7: 11,846,895	M41V	probably benign	Het
Vmn2r59	A	C	7: 42,045,894	S365A	probably benign	Het
Zfp345	A	T	2: 150,474,868	Y6*	probably null	Het

Other mutations in Tmem260

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Tmem260	APN	14	48486879	missense	probably benign	0.27
IGL00338:Tmem260	APN	14	48477636	missense	probably damaging	0.97
IGL00508:Tmem260	APN	14	48509121	missense	probably damaging	0.99
IGL01308:Tmem260	APN	14	48511958	missense	probably damaging	1.00
IGL01548:Tmem260	APN	14	48480325	missense	possibly damaging	0.60
IGL01952:Tmem260	APN	14	48472476	missense	probably damaging	1.00
IGL03068:Tmem260	APN	14	48486914	splice site	probably benign
IGL03081:Tmem260	APN	14	48496293	missense	probably benign	0.14
R0131:Tmem260	UTSW	14	48483322	nonsense	probably null
R0131:Tmem260	UTSW	14	48483322	nonsense	probably null
R0132:Tmem260	UTSW	14	48483322	nonsense	probably null
R0149:Tmem260	UTSW	14	48452047	missense	possibly damaging	0.88
R0361:Tmem260	UTSW	14	48452047	missense	possibly damaging	0.88
R0396:Tmem260	UTSW	14	48486867	missense	possibly damaging	0.83
R0524:Tmem260	UTSW	14	48472478	missense	probably benign	0.00
R1734:Tmem260	UTSW	14	48509093	missense	probably benign	0.00
R2152:Tmem260	UTSW	14	48477609	missense	possibly damaging	0.62
R2474:Tmem260	UTSW	14	48496324	missense	probably null	0.90
R2928:Tmem260	UTSW	14	48486750	missense	probably damaging	1.00
R2999:Tmem260	UTSW	14	48484989	missense	possibly damaging	0.92
R3030:Tmem260	UTSW	14	48485001	missense	probably damaging	1.00
R4273:Tmem260	UTSW	14	48505304	missense	probably benign	0.11
R4276:Tmem260	UTSW	14	48477636	missense	probably damaging	0.97
R4277:Tmem260	UTSW	14	48477636	missense	probably damaging	0.97
R4278:Tmem260	UTSW	14	48477636	missense	probably damaging	0.97
R4791:Tmem260	UTSW	14	48511994	intron	probably benign
R4792:Tmem260	UTSW	14	48511994	intron	probably benign
R4810:Tmem260	UTSW	14	48472473	missense	probably damaging	0.99
R5189:Tmem260	UTSW	14	48509116	missense	probably benign	0.01
R5280:Tmem260	UTSW	14	48505259	missense	probably benign	0.02
R5289:Tmem260	UTSW	14	48486810	missense	possibly damaging	0.79
R5322:Tmem260	UTSW	14	48486849	missense	probably damaging	0.99
R5491:Tmem260	UTSW	14	48512170	splice site	probably null
R5593:Tmem260	UTSW	14	48474044	missense	probably benign	0.38
R5824:Tmem260	UTSW	14	48505328	missense	probably damaging	1.00
R5947:Tmem260	UTSW	14	48486801	missense	possibly damaging	0.93
R6587:Tmem260	UTSW	14	48496456	splice site	probably null
R7234:Tmem260	UTSW	14	48505329	nonsense	probably null
R7236:Tmem260	UTSW	14	48509190	splice site	probably null
R7836:Tmem260	UTSW	14	48509062	missense	probably benign	0.04
R8795:Tmem260	UTSW	14	48451913	missense	probably damaging	1.00
R8895:Tmem260	UTSW	14	48500388	unclassified	probably benign
R9056:Tmem260	UTSW	14	48480317	missense	probably benign
R9096:Tmem260	UTSW	14	48520346	missense	unknown
R9384:Tmem260	UTSW	14	48486819	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACGCTTGTGTTTGGCAGGAC -3'
(R):5'- CACTGGTTCTGAATTAGTTTGTCC -3'

Sequencing Primer
(F):5'- GCTGCAGTGCACTTGCTAC -3'
(R):5'- CCTTTAACAAGGTTCATGAAGGG -3'

Posted On

2016-10-26