Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Tmem260'

500145

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

038416-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0131 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 48483322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 306 (C306*)

Ref Sequence

ENSEMBL: ENSMUSP00000154360 (fasta)

Gene Model

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

AlphaFold

Q8BMD6

Predicted Effect

probably null
Transcript: ENSMUST00000111735
AA Change: C306*

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: C306*

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 null
Transcript: ENSMUST00000124720
AA Change: C154*

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: C154*

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 null
Transcript: ENSMUST00000226422
AA Change: C306*

Predicted Effect

probably null
Transcript: ENSMUST00000227440
AA Change: C306*

Predicted Effect

probably benign
Transcript: ENSMUST00000228697

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 98.8%
3x: 97.2%
10x: 90.2%
20x: 71.5%

Validation Efficiency

87% (52/60)

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,137,615	R320G	probably damaging	Het
Abca8b	T	A	11: 109,942,289	Q1195L	possibly damaging	Het
Abcc12	A	G	8: 86,531,568	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,342,723	I1057N	possibly damaging	Het
Adgrv1	A	T	13: 81,502,995		probably benign	Het
Anxa5	G	A	3: 36,450,672	A247V	probably damaging	Het
Arntl2	C	A	6: 146,828,103	H471N	probably benign	Het
Ascc3	T	G	10: 50,735,329	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,793,782	P389S	probably damaging	Het
Bicd1	A	G	6: 149,512,947	E386G	probably damaging	Het
Bpifa6	T	A	2: 153,982,931	S9T	probably benign	Het
Cacna1c	T	C	6: 118,625,512	I1428V	probably damaging	Het
Chd8	A	G	14: 52,205,326	V589A	probably benign	Het
Chrnb2	T	C	3: 89,764,406	M1V	probably null	Het
Cldnd1	T	C	16: 58,732,992	L232P	probably damaging	Het
Col16a1	T	A	4: 130,067,096	V449E	unknown	Het
Col3a1	T	A	1: 45,328,868		probably benign	Het
Cttnbp2nl	T	G	3: 105,005,857	K237T	probably damaging	Het
Cyc1	G	A	15: 76,344,959	V142I	probably benign	Het
Dapk3	A	G	10: 81,192,307	T265A	probably benign	Het
Ddx21	A	T	10: 62,584,752	M711K	possibly damaging	Het
Dlg5	A	T	14: 24,138,649	L1735Q	probably damaging	Het
Dse	A	G	10: 34,153,664	Y341H	probably damaging	Het
Elmod2	A	G	8: 83,319,504	I148T	probably damaging	Het
Fam187b	T	A	7: 30,989,120	V22E	probably damaging	Het
Faxc	A	G	4: 21,936,659	D98G	probably damaging	Het
Fcrls	A	G	3: 87,258,959	S170P	possibly damaging	Het
Fsip2	G	A	2: 82,991,121	D5733N	probably benign	Het
Gbe1	T	C	16: 70,360,852		probably benign	Het
Gm1141	T	C	X: 71,939,555	C378R	possibly damaging	Het
Gm4788	T	A	1: 139,754,271	T196S	probably damaging	Het
Gm6327	T	C	16: 12,761,045		noncoding transcript	Het
Gm9745	T	A	13: 8,940,527		probably benign	Het
H2-T24	T	A	17: 36,014,986	I238F	probably damaging	Het
Hectd4	A	G	5: 121,333,024	E2658G	probably benign	Het
Herc1	A	C	9: 66,480,910	I3826L	probably benign	Het
Hinfp	A	G	9: 44,299,763	C67R	probably damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Hspg2	T	C	4: 137,551,887	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,926,728	V67A	probably damaging	Het
Iqcc	T	G	4: 129,616,599	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,326,198	T120A	probably damaging	Het
Kitl	C	T	10: 100,087,364	P208S	probably benign	Het
Kmt2b	A	T	7: 30,583,921	C296S	probably damaging	Het
Lgals4	A	G	7: 28,834,232		probably null	Het
Lpcat4	A	G	2: 112,246,748	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,553,152	N227S	probably damaging	Het
Mdc1	T	A	17: 35,852,581	V1007D	probably damaging	Het
Mocos	T	G	18: 24,679,762	I571S	probably benign	Het
Myh8	A	G	11: 67,292,188	N659D	probably damaging	Het
Mylk	T	C	16: 34,875,504	V203A	probably benign	Het
Myom2	A	G	8: 15,083,329	N407S	probably damaging	Het
Naip2	A	G	13: 100,183,788	V240A	probably benign	Het
Nap1l1	T	C	10: 111,485,509	S37P	probably benign	Het
Nin	T	G	12: 70,051,141	K515T	probably damaging	Het
Npl	T	A	1: 153,509,118	K258*	probably null	Het
Ntn4	T	A	10: 93,644,707	S98T	possibly damaging	Het
Olfr1037	T	C	2: 86,085,500	I92M	probably damaging	Het
Olfr177	C	A	16: 58,872,906	M81I	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr417	T	C	1: 174,369,586	V223A	probably damaging	Het
Olfr720	T	C	14: 14,175,620	D154G	probably benign	Het
Pate3	A	G	9: 35,646,157	C68R	probably damaging	Het
Pcdh15	A	G	10: 74,170,608	D106G	probably null	Het
Ppox	C	A	1: 171,279,275	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,713,653	L1380S	probably benign	Het
Proc	C	T	18: 32,135,898	M11I	probably benign	Het
Psd4	C	A	2: 24,405,351	A839E	probably damaging	Het
Psg21	A	G	7: 18,654,868	Y100H	probably benign	Het
Pten	T	A	19: 32,776,069	V45E	probably benign	Het
Ptprn2	T	G	12: 116,722,091	F57V	probably damaging	Het
Ptprt	C	T	2: 162,278,110	V146I	probably benign	Het
R3hdm2	T	A	10: 127,498,453	M915K	probably damaging	Het
Rab26	C	T	17: 24,530,785		probably null	Het
Rab7b	T	C	1: 131,698,555	L107P	probably damaging	Het
Rbm47	T	A	5: 66,026,529	T244S	possibly damaging	Het
Rhbdf2	C	A	11: 116,605,344	G122C	probably damaging	Het
Rnf213	A	G	11: 119,430,361	E1215G	probably benign	Het
Rprd2	T	C	3: 95,774,361	K407E	probably damaging	Het
Siah3	G	A	14: 75,456,134	V27I	possibly damaging	Het
Slc12a3	G	A	8: 94,340,883		probably benign	Het
Slc14a2	T	A	18: 78,192,123	N280Y	probably damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,971,960	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,705,530	D55G	probably benign	Het
Slc35d1	C	T	4: 103,208,181	V189I	probably benign	Het
Spg11	T	C	2: 122,070,968	E1497G	probably damaging	Het
Srrm1	G	A	4: 135,340,573	R322*	probably null	Het
Stac3	A	T	10: 127,503,650	R138S	probably damaging	Het
Tet3	C	G	6: 83,368,788	G1556R	probably damaging	Het
Tgfbr3	A	G	5: 107,132,816	S693P	probably benign	Het
Tmcc2	C	T	1: 132,380,706	G150D	probably benign	Het
Tmem216	T	C	19: 10,554,606	Y44C	probably damaging	Het
Tspyl1	A	G	10: 34,283,089	N270S	probably damaging	Het
Ubr4	A	G	4: 139,464,051	T4127A	possibly damaging	Het
Ugt2a2	T	A	5: 87,474,861	K293*	probably null	Het
Vmn2r102	A	C	17: 19,678,763	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,712,249	S139R	probably benign	Het
Wrnip1	G	A	13: 32,806,864	V369I	probably damaging	Het
Zc3h12c	T	A	9: 52,126,623	I305F	possibly damaging	Het
Zmym2	A	G	14: 56,943,258	N876D	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
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
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

Posted On

2017-12-01