Mutagenetix > Incidental Mutations

Incidental Mutation 'R0149:Tmem260'

22750

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

038433-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0149 (G1)

Quality Score

225

Status

Validated (trace)

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: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (84/87)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	C	8: 12,280,000	S152R	unknown	Het
Acsbg2	A	G	17: 56,853,924		probably benign	Het
Adam6a	G	T	12: 113,545,749	V581F	probably damaging	Het
Adgrl3	A	T	5: 81,760,697	I1165F	probably damaging	Het
Aldh1l1	A	G	6: 90,589,414	K656E	possibly damaging	Het
Ankhd1	T	C	18: 36,647,214	I1773T	probably damaging	Het
Api5	A	T	2: 94,423,497	L287*	probably null	Het
Ascc3	A	T	10: 50,607,993	N55I	probably benign	Het
Cav1	C	A	6: 17,339,353	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,734,007	I1118F	probably damaging	Het
Cemip	A	G	7: 83,964,010	I660T	probably benign	Het
Clk1	T	A	1: 58,414,601	N305Y	probably damaging	Het
Cux1	T	A	5: 136,279,497	I1263F	probably damaging	Het
Cyp2d26	A	G	15: 82,792,767	L152P	probably damaging	Het
Dmtf1	A	G	5: 9,132,571	S188P	probably damaging	Het
Dock2	A	G	11: 34,438,327	L202P	probably damaging	Het
Dscaml1	T	G	9: 45,742,680	Y1418*	probably null	Het
Efemp2	A	T	19: 5,477,960	H107L	probably damaging	Het
Eng	T	C	2: 32,672,385		probably null	Het
Erc1	A	T	6: 119,824,830	S75R	probably damaging	Het
Fgl2	A	T	5: 21,375,785	D375V	probably damaging	Het
Fpr-rs6	T	C	17: 20,182,213	I295M	probably benign	Het
Fsip2	T	C	2: 82,975,505	S723P	possibly damaging	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
Gm6614	T	C	6: 141,992,477	T239A	probably benign	Het
Gmcl1	A	T	6: 86,732,909		probably null	Het
Has1	T	C	17: 17,850,171	T163A	probably damaging	Het
Hmcn1	A	T	1: 150,677,324	N2538K	probably benign	Het
Itga2	A	G	13: 114,836,579		probably benign	Het
Kcnip1	A	T	11: 33,843,177	M5K	probably benign	Het
Kcnk4	T	C	19: 6,926,194	E329G	probably benign	Het
Kcnt1	T	C	2: 25,898,264		probably benign	Het
Klkb1	A	G	8: 45,276,063	C375R	probably damaging	Het
Loxl2	C	A	14: 69,693,078	H764N	probably benign	Het
Lrrc55	A	T	2: 85,196,245	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,212,932	I439T	probably benign	Het
Magi1	A	T	6: 93,747,245	I263N	probably damaging	Het
Map4	C	T	9: 110,067,624	P641L	probably damaging	Het
Mars	A	T	10: 127,300,034	N558K	probably damaging	Het
Mfap2	A	G	4: 141,014,983	D98G	probably damaging	Het
Mgat5b	A	G	11: 116,985,139		probably benign	Het
Mki67	A	T	7: 135,698,424	V1627D	probably benign	Het
Mtnr1a	A	T	8: 45,069,315	I36F	probably benign	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
Ngf	T	A	3: 102,520,446	H174Q	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
Olfr1390	A	T	11: 49,340,814	Y94F	probably benign	Het
Olfr935	T	A	9: 38,994,584	M284L	probably benign	Het
Osmr	A	G	15: 6,841,951		probably null	Het
P4ha1	A	G	10: 59,348,399	T228A	probably damaging	Het
Pip5kl1	T	C	2: 32,578,954	V195A	possibly damaging	Het
Plagl2	A	T	2: 153,231,603	D459E	probably benign	Het
Plxna1	T	C	6: 89,320,613	E1863G	probably null	Het
Prdm10	T	G	9: 31,316,159		probably benign	Het
Prr14l	A	C	5: 32,793,641	L1936R	probably damaging	Het
Rgs1	T	C	1: 144,249,087		probably benign	Het
Rgsl1	A	G	1: 153,793,764	F292S	probably damaging	Het
Rhobtb2	T	C	14: 69,795,908	T538A	probably benign	Het
Rictor	A	G	15: 6,784,107	N1025D	possibly damaging	Het
Rsph10b	T	A	5: 143,938,909		probably benign	Het
Rwdd4a	A	G	8: 47,544,220	D158G	probably null	Het
Sdk1	T	C	5: 141,857,054		probably benign	Het
Serpina3n	A	C	12: 104,411,376	K296T	probably benign	Het
Snw1	A	G	12: 87,461,917	V124A	possibly damaging	Het
Tas2r137	T	G	6: 40,491,298	F21V	probably benign	Het
Tmc6	G	A	11: 117,769,448	L655F	probably damaging	Het
Trim2	T	C	3: 84,190,776	Y406C	probably damaging	Het
Tsc1	T	C	2: 28,670,901	I257T	probably damaging	Het
Ttn	T	C	2: 76,843,402		probably benign	Het
Unc80	T	A	1: 66,521,601	N829K	possibly damaging	Het
Vmn1r235	A	C	17: 21,261,995	D194A	probably damaging	Het
Vmn2r100	A	T	17: 19,521,247		probably null	Het
Ylpm1	G	T	12: 85,028,838	R321L	probably damaging	Het
Zan	T	C	5: 137,396,766	T4381A	unknown	Het
Zfp457	A	G	13: 67,292,646	F622L	probably damaging	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
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
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'- TAGGGAGCCACTGCCACTATTGAG -3'
(R):5'- AACCCCGTACATCTGAGGGGTAAG -3'

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

Posted On

2013-04-16