Mutagenetix > Incidental Mutation

Incidental Mutation 'R0361:Tmem260'

30137

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

038567-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0361 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48452047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 108 (T108S)

Ref Sequence

ENSEMBL: ENSMUSP00000154360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111735] [ENSMUST00000124720] [ENSMUST00000153765] [ENSMUST00000226400] [ENSMUST00000226422] [ENSMUST00000227440]

AlphaFold

Q8BMD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111735
AA Change: T108S

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: T108S

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

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339

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

possibly damaging
Transcript: ENSMUST00000153765
AA Change: T108S

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116155
Gene: ENSMUSG00000036339
AA Change: T108S

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

probably benign
Transcript: ENSMUST00000226400

Predicted Effect

probably benign
Transcript: ENSMUST00000226422
AA Change: T108S

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227440
AA Change: T108S

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227942

Meta Mutation Damage Score

0.1130

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

100% (1/1)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	G	3: 124,413,634	T303P	possibly damaging	Het
1700010I14Rik	G	T	17: 8,992,546	V176L	probably benign	Het
1700034J05Rik	T	C	6: 146,952,371	T262A	possibly damaging	Het
Adgrl3	A	T	5: 81,760,697	I1165F	probably damaging	Het
Ankhd1	T	C	18: 36,647,214	I1773T	probably damaging	Het
Api5	A	T	2: 94,423,497	L287*	probably null	Het
Apol10b	A	T	15: 77,585,386	M197K	possibly damaging	Het
Bcl2	G	A	1: 106,712,694	R63W	probably damaging	Het
Cacna1h	A	G	17: 25,389,422	M731T	probably damaging	Het
Cav1	C	A	6: 17,339,353	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,734,007	I1118F	probably damaging	Het
Cdk7	A	T	13: 100,711,554	Y153*	probably null	Het
Cemip	A	G	7: 83,964,010	I660T	probably benign	Het
Cfap65	A	T	1: 74,925,440	L518Q	probably damaging	Het
Cngb3	A	G	4: 19,366,467	H176R	probably benign	Het
Cux1	T	A	5: 136,279,497	I1263F	probably damaging	Het
Dnajc13	A	G	9: 104,167,059	M1867T	probably benign	Het
Dock2	A	G	11: 34,438,327	L202P	probably damaging	Het
Dyrk3	A	G	1: 131,130,032	S100P	probably benign	Het
Efr3b	A	T	12: 3,977,923	S376T	probably benign	Het
Eps8l2	A	C	7: 141,356,199	N222T	probably benign	Het
Ermp1	A	T	19: 29,631,406	Y158N	probably damaging	Het
Fam13a	A	G	6: 58,987,174	V91A	probably benign	Het
Fat3	A	G	9: 15,998,403	V2101A	possibly damaging	Het
Fsip2	T	C	2: 82,975,505	S723P	possibly damaging	Het
Garem1	G	T	18: 21,299,744	C9*	probably null	Het
Gdpd5	A	G	7: 99,458,790	I530V	possibly damaging	Het
Gm15217	T	A	14: 46,380,384		probably benign	Het
Gm4922	T	C	10: 18,783,541	T478A	probably benign	Het
Gm5483	T	C	16: 36,184,278	S7P	probably damaging	Het
H2-M5	A	G	17: 36,987,436	I329T	possibly damaging	Het
Ing4	G	A	6: 125,047,894	C200Y	probably damaging	Het
Kcnip1	A	T	11: 33,843,177	M5K	probably benign	Het
Kdsr	T	C	1: 106,747,787	E102G	probably damaging	Het
Krt15	C	T	11: 100,133,181	V346M	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrrc55	A	T	2: 85,196,245	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,212,932	I439T	probably benign	Het
Map2k6	T	C	11: 110,499,509	F290L	probably damaging	Het
Mb21d1	T	A	9: 78,433,252	K399N	probably damaging	Het
Me1	T	A	9: 86,651,002	I136F	probably damaging	Het
Mfap2	A	G	4: 141,014,983	D98G	probably damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mst1	T	C	9: 108,084,897	F696L	probably damaging	Het
Mta1	A	G	12: 113,133,341		probably null	Het
Myh15	A	T	16: 49,114,005	N645I	probably benign	Het
Myo7b	T	A	18: 32,014,209	I94F	probably damaging	Het
Nefh	A	T	11: 4,940,799	S607T	probably benign	Het
Noa1	G	A	5: 77,297,173	Q600*	probably null	Het
Nr2f2	A	G	7: 70,358,062	V71A	possibly damaging	Het
Oas2	A	T	5: 120,738,401	F492L	probably damaging	Het
Olfm3	T	A	3: 115,120,973	D211E	probably damaging	Het
Olfr1390	A	T	11: 49,340,814	Y94F	probably benign	Het
Osmr	A	G	15: 6,841,951		probably null	Het
Plagl2	A	T	2: 153,231,603	D459E	probably benign	Het
Plch2	T	C	4: 155,006,711	D148G	possibly damaging	Het
Plxnc1	C	A	10: 94,865,007	C605F	probably damaging	Het
Ppm1m	T	C	9: 106,198,126	E108G	probably damaging	Het
Prr14l	A	C	5: 32,793,641	L1936R	probably damaging	Het
Ralgapa1	A	G	12: 55,676,569	I1771T	possibly damaging	Het
Rhobtb2	T	C	14: 69,795,908	T538A	probably benign	Het
Rictor	A	G	15: 6,784,107	N1025D	possibly damaging	Het
Sec23a	T	G	12: 58,991,018	D324A	probably damaging	Het
Srgap1	A	T	10: 122,047,192	M1K	probably null	Het
Syne2	T	A	12: 75,918,610	F801I	probably benign	Het
Synrg	T	A	11: 84,024,337		probably null	Het
Tas2r137	T	G	6: 40,491,298	F21V	probably benign	Het
Trim2	T	C	3: 84,190,776	Y406C	probably damaging	Het
Ttn	T	C	2: 76,843,402		probably benign	Het
Vmn1r53	A	T	6: 90,224,082	S87T	possibly damaging	Het
Vmn2r115	T	A	17: 23,345,222	Y123N	probably benign	Het
Vmn2r28	T	A	7: 5,493,716	I46F	probably benign	Het
Zan	T	C	5: 137,396,766	T4381A	unknown	Het
Zfp457	A	G	13: 67,292,646	F622L	probably damaging	Het
Zfp994	A	T	17: 22,200,110	N619K	probably benign	Het
Zfy1	T	C	Y: 726,121	H548R	possibly damaging	Het
Zmym4	A	T	4: 126,911,145	S441T	probably benign	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
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
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
R9634:Tmem260	UTSW	14	48472359	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGGAGCCACTGCCACTATTGAG -3'
(R):5'- AACCCCGTACATCTGAGGGGTAAG -3'

Sequencing Primer
(F):5'- CAGTTAAAGCCAGTGTGTCAC -3'
(R):5'- TACATCTGAGGGGTAAGGAGGC -3'

Posted On

2013-04-24