Mutagenetix > Incidental Mutations

Incidental Mutation 'R4810:Tmem260'

371030

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

042429-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48472473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 51 (E51G)

Ref Sequence

ENSEMBL: ENSMUSP00000153822 (fasta)

Gene Model

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

AlphaFold

Q8BMD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111735
AA Change: E161G

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: E161G

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

possibly damaging
Transcript: ENSMUST00000124720
AA Change: E9G

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: E9G

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

possibly damaging
Transcript: ENSMUST00000226422
AA Change: E161G

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227440
AA Change: E161G

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228697
AA Change: E51G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.0868

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

99% (93/94)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	G	9: 92,354,630	D190G	probably damaging	Het
2700049A03Rik	T	C	12: 71,189,442	V1189A	possibly damaging	Het
5330417C22Rik	T	A	3: 108,470,011		probably benign	Het
A3galt2	T	C	4: 128,755,563		probably null	Het
Abca12	T	C	1: 71,303,612	D903G	probably benign	Het
Abcc12	T	C	8: 86,560,842	M125V	probably damaging	Het
Adad1	A	G	3: 37,092,034	N517S	probably damaging	Het
Ankrd44	A	G	1: 54,735,143		probably benign	Het
Armc7	A	G	11: 115,488,961	I162V	probably benign	Het
Art3	T	A	5: 92,414,249	V343D	possibly damaging	Het
Bcl9l	A	G	9: 44,508,353	T1106A	probably damaging	Het
Ccdc141	T	C	2: 77,045,755	N644D	possibly damaging	Het
Ccdc154	T	C	17: 25,163,498	L98S	probably damaging	Het
Ccne1	A	G	7: 38,099,593	W237R	probably damaging	Het
Cd33	T	C	7: 43,532,710	I104V	probably damaging	Het
Ceacam1	A	T	7: 25,474,520	*237K	probably null	Het
Ces1e	T	A	8: 93,208,631	I398F	probably benign	Het
Cfap44	T	C	16: 44,451,535	I1217T	probably damaging	Het
Clns1a	T	C	7: 97,714,017	S199P	probably benign	Het
Cntn4	C	A	6: 106,655,611	T532K	probably benign	Het
Col11a2	C	T	17: 34,057,112	S470L	probably damaging	Het
Cst10	A	T	2: 149,405,543	R60*	probably null	Het
Cxcr6	A	T	9: 123,810,162	D83V	probably damaging	Het
Dis3l2	T	C	1: 87,047,574	V774A	probably damaging	Het
Dusp15	A	G	2: 152,945,454	L79P	probably damaging	Het
Eml6	A	T	11: 29,755,011	V1511E	possibly damaging	Het
Epha5	C	T	5: 84,105,891	D548N	possibly damaging	Het
Fam227b	A	G	2: 125,987,939	F450L	probably benign	Het
Fam91a1	T	A	15: 58,434,740	L452Q	probably damaging	Het
Fbxo44	T	C	4: 148,156,446	Y199C	probably damaging	Het
Fgd3	A	G	13: 49,289,650	S149P	probably benign	Het
Gabra4	T	C	5: 71,623,982	E362G	probably damaging	Het
Galnt14	T	C	17: 73,512,121	I325V	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gm10088	G	T	16: 19,028,331		noncoding transcript	Het
Grik5	T	C	7: 25,015,497	N691D	probably damaging	Het
Grm1	C	G	10: 10,782,694	D351H	probably damaging	Het
Grm8	T	C	6: 27,761,296	S310G	possibly damaging	Het
Gtf2h2	A	G	13: 100,481,002		probably null	Het
Hhex	G	T	19: 37,439,655	L49F	probably damaging	Het
Hkdc1	T	A	10: 62,411,525	R159S	probably benign	Het
Iqcm	A	G	8: 75,888,653	Y454C	probably damaging	Het
Kcnh8	G	A	17: 52,905,220		probably null	Het
Larp4b	A	G	13: 9,158,591	T427A	probably benign	Het
Mtmr3	A	T	11: 4,498,046	N297K	probably benign	Het
Nek8	G	A	11: 78,167,803	T557I	probably benign	Het
Nlrp9c	A	C	7: 26,378,177		probably null	Het
Nmrk1	T	A	19: 18,639,909	D48E	probably benign	Het
Npepps	G	A	11: 97,240,933	T365I	probably damaging	Het
Obscn	G	A	11: 59,031,591	T5921M	possibly damaging	Het
Olfr25	A	G	9: 38,330,394	E269G	probably benign	Het
Olfr907	C	A	9: 38,499,324	Y218*	probably null	Het
Otud7b	C	T	3: 96,136,607	A23V	probably damaging	Het
Pcdhga9	G	A	18: 37,738,548	A477T	possibly damaging	Het
Plekha7	A	T	7: 116,144,938	I663N	probably damaging	Het
Polk	A	T	13: 96,483,495	S732R	possibly damaging	Het
Ppfia2	A	G	10: 106,915,690	I1166V	probably benign	Het
Ppp2r5a	C	T	1: 191,356,392		probably benign	Het
Prkaa2	T	C	4: 105,039,814	K401E	probably damaging	Het
Ptpn23	A	G	9: 110,389,136	Y611H	possibly damaging	Het
Rab31	C	T	17: 65,722,003		probably null	Het
Rad51ap2	T	A	12: 11,457,405	C443S	probably damaging	Het
Ralgapa1	A	G	12: 55,794,993		probably null	Het
Rev3l	T	C	10: 39,823,725	L1406P	probably benign	Het
Rnaset2b	T	A	17: 6,991,768	D48E	probably benign	Het
Rnf13	G	T	3: 57,796,272	M105I	probably damaging	Het
Rnf150	T	C	8: 82,990,362	V166A	possibly damaging	Het
Rps6kc1	C	A	1: 190,808,963	R381L	probably damaging	Het
Rspo2	C	T	15: 43,169,820	R2H	probably benign	Het
Sept8	A	G	11: 53,534,589	D103G	probably damaging	Het
Sirt4	A	G	5: 115,480,449	W189R	probably damaging	Het
Slco6d1	T	C	1: 98,423,254	V110A	possibly damaging	Het
Sncaip	C	A	18: 52,907,199	Q822K	possibly damaging	Het
Spg11	A	C	2: 122,059,796	F2070V	probably damaging	Het
Sptb	A	T	12: 76,623,197	Y452*	probably null	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Tead1	C	A	7: 112,841,866		probably null	Het
Tmem156	G	T	5: 65,091,447		probably benign	Het
Tmem169	A	G	1: 72,298,152	D82G	probably benign	Het
Trim36	G	T	18: 46,172,469	N470K	probably benign	Het
Trps1	T	A	15: 50,822,296	T158S	probably benign	Het
Ube2c	A	G	2: 164,772,562	*180W	probably null	Het
Ube2i	T	C	17: 25,265,147	D45G	probably benign	Het
Uggt2	A	C	14: 119,013,521	L1188R	probably damaging	Het
Uroc1	T	C	6: 90,363,153	I680T	probably damaging	Het
Vmn2r2	T	A	3: 64,137,462	M88L	probably damaging	Het
Zfp248	G	A	6: 118,429,846	R261C	possibly damaging	Het
Zfp418	G	T	7: 7,182,847	R603L	possibly damaging	Het
Zmpste24	T	A	4: 121,061,054	Y457F	probably damaging	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
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
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'- AGAGTCAGCTCCTCTTGTTCCG -3'
(R):5'- CATGGCTCCACTCCTAGCAAAG -3'

Sequencing Primer
(F):5'- AGCTCCTCTTGTTCCGAGAGAG -3'
(R):5'- CACTCCTAGCAAAGGGTCTGAGTG -3'

Posted On

2016-02-04