Mutagenetix > Incidental Mutations

Incidental Mutation 'R5289:Tmem260'

424611

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

042872-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5289 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 48486810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 182 (V182M)

Ref Sequence

ENSEMBL: ENSMUSP00000153822 (fasta)

Gene Model

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

AlphaFold

Q8BMD6

Predicted Effect

probably benign
Transcript: ENSMUST00000111735
AA Change: V372M

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: V372M

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: V220M

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: V220M

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 benign
Transcript: ENSMUST00000226422
AA Change: V372M

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000227440
AA Change: V372M

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228697
AA Change: V182M

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	A	3: 37,000,109	Q3126K	probably damaging	Het
Adgrv1	A	G	13: 81,521,084	V1731A	probably benign	Het
Ahcyl1	A	G	3: 107,669,890		probably null	Het
Aox1	T	A	1: 58,092,558	M1042K	probably damaging	Het
Atp10d	C	A	5: 72,255,123	Q590K	probably benign	Het
Atp8b1	G	T	18: 64,546,087	N774K	possibly damaging	Het
Atrnl1	C	T	19: 57,657,082	T458M	probably damaging	Het
BC005561	G	A	5: 104,519,657	V682I	probably benign	Het
Cnr1	T	A	4: 33,943,910	C99*	probably null	Het
Cnr2	A	G	4: 135,917,007	Y132C	probably damaging	Het
Commd9	C	T	2: 101,898,894	A115V	probably benign	Het
Diaph3	A	G	14: 86,981,678	F426S	probably damaging	Het
Diras1	G	A	10: 81,022,244	Q58*	probably null	Het
Dpy19l2	A	G	9: 24,695,997	L56P	probably benign	Het
Dsc1	A	T	18: 20,101,853	V248D	possibly damaging	Het
Frem3	A	G	8: 80,612,319	M414V	probably benign	Het
Frmd4b	G	T	6: 97,302,348		probably null	Het
Gabarapl2	T	C	8: 111,942,595	W62R	probably damaging	Het
Glt1d1	A	G	5: 127,644,356	R36G	probably benign	Het
Grb10	T	C	11: 11,944,924		silent	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Hc	A	G	2: 34,996,014		probably null	Het
Hgd	A	G	16: 37,628,551	E379G	possibly damaging	Het
Ifi30	A	T	8: 70,766,601		probably benign	Het
Iqgap1	T	C	7: 80,738,724	I842V	possibly damaging	Het
Iqsec3	T	A	6: 121,386,700		probably null	Het
Kalrn	A	G	16: 34,252,341	S724P	possibly damaging	Het
Lama2	C	A	10: 27,212,073	G903*	probably null	Het
Lrrc10	T	C	10: 117,045,487	V22A	probably benign	Het
Lzts3	T	C	2: 130,636,101	E245G	probably benign	Het
Man2a1	A	G	17: 64,651,227	T246A	probably damaging	Het
Mfsd13a	A	G	19: 46,368,280	E240G	probably benign	Het
Mtor	T	C	4: 148,466,092	I735T	possibly damaging	Het
Naa15	A	T	3: 51,455,894	H333L	probably damaging	Het
Nes	C	A	3: 87,978,418	T1284K	probably damaging	Het
Nexn	T	G	3: 152,248,072	H173P	probably benign	Het
Nid2	T	C	14: 19,805,311	V1173A	possibly damaging	Het
Npepps	A	G	11: 97,240,927		probably null	Het
Pgm2	T	A	4: 99,967,069	M313K	probably damaging	Het
Pih1d3	A	T	1: 31,223,527	I197F	probably benign	Het
Plag1	T	A	4: 3,905,545	K48N	probably damaging	Het
Prok1	G	C	3: 107,239,619	L11V	probably benign	Het
Ptpn9	T	C	9: 57,060,063		probably null	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc38a4	A	T	15: 97,010,348	F171I	possibly damaging	Het
Sycp1	A	T	3: 102,934,253	N78K	possibly damaging	Het
Tas2r110	T	C	6: 132,868,009	M1T	probably null	Het
Tmem30a	A	T	9: 79,776,154	N144K	probably damaging	Het
Vmn2r108	A	G	17: 20,471,604	L219P	probably damaging	Het
Vmn2r57	A	G	7: 41,399,974	S784P	probably damaging	Het
Vwf	T	C	6: 125,667,510		probably benign	Het
Wdr62	A	C	7: 30,267,875	V318G	probably damaging	Het
Zfp398	T	A	6: 47,863,181	S115T	probably benign	Het
Zfp62	T	A	11: 49,217,148	C689S	probably damaging	Het
Zmynd15	C	G	11: 70,466,004	P580R	unknown	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
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
R5606:Tmem260	UTSW	14	48484980	missense	probably damaging	1.00
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'- AGCCTATTGATACTAGGGGTAAGC -3'
(R):5'- TTCCCAGCCCAGACATCATG -3'

Sequencing Primer
(F):5'- CTGAGCCTAAGTGATAACTGTTGCC -3'
(R):5'- CTCACTGGTTGGTCTTAGAAATCAG -3'

Posted On

2016-08-04