Mutagenetix > Incidental Mutations

Incidental Mutation 'R5593:Tmem260'

437653

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

043145-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5593 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 48474044 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 197 (I197L)

Ref Sequence

ENSEMBL: ENSMUSP00000154360 (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: I197L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: I197L

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: I45L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: I45L

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

probably benign
Transcript: ENSMUST00000226422
AA Change: I197L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000227440
AA Change: I197L

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000228697
AA Change: I87L

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0985

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	T	11: 3,938,027	V120I	unknown	Het
9330182L06Rik	T	A	5: 9,266,350	L27Q	probably benign	Het
Anpep	T	G	7: 79,842,046	K69T	probably benign	Het
Appbp2	A	T	11: 85,194,583	I499K	possibly damaging	Het
Copb2	A	G	9: 98,587,038		probably null	Het
Cpa5	T	C	6: 30,630,849	I370T	probably benign	Het
Cpn2	T	C	16: 30,260,080	T268A	probably benign	Het
Ctbp2	C	A	7: 132,998,869	R99I	possibly damaging	Het
Cul1	G	A	6: 47,485,086	W196*	probably null	Het
Cul1	T	C	6: 47,514,991	F402L	probably damaging	Het
Cysltr2	T	C	14: 73,029,491	K260E	probably benign	Het
Dyrk1a	C	A	16: 94,659,583	Q33K	possibly damaging	Het
Epg5	T	A	18: 77,957,474	S542T	probably damaging	Het
Eps8l3	A	T	3: 107,891,188		probably benign	Het
Evc2	A	G	5: 37,386,977	H690R	probably damaging	Het
Fam227a	G	A	15: 79,640,058		probably benign	Het
Gadl1	G	T	9: 116,006,650	G382V	probably damaging	Het
Gbf1	A	G	19: 46,272,524	Q1176R	possibly damaging	Het
Gdf9	A	T	11: 53,433,731	H109L	probably damaging	Het
Gm7534	T	C	4: 134,193,039	K605R	probably damaging	Het
Gsdmd	T	A	15: 75,867,007	V411D	probably damaging	Het
Hdc	T	C	2: 126,618,584		probably benign	Het
Ifrd2	A	G	9: 107,590,175	D82G	probably damaging	Het
Itpkb	T	C	1: 180,334,096	S596P	probably damaging	Het
Kcnmb3	A	G	3: 32,491,947	V8A	possibly damaging	Het
Lyst	T	G	13: 13,743,333	I3326S	probably damaging	Het
Mcm9	G	A	10: 53,538,297	T229I	probably damaging	Het
Medag	T	A	5: 149,426,950	F21L	probably benign	Het
Mefv	A	T	16: 3,715,451	C319S	probably benign	Het
Mettl23	T	A	11: 116,843,767	V54D	probably damaging	Het
Mul1	A	G	4: 138,439,232	D199G	probably damaging	Het
Ncor1	A	T	11: 62,369,304	I266N	probably damaging	Het
Nek10	A	T	14: 14,980,544	K967*	probably null	Het
Nrcam	A	G	12: 44,559,700	T410A	probably damaging	Het
Olfr222	T	C	11: 59,571,048	R231G	possibly damaging	Het
Olfr59	A	G	11: 74,288,792	I49V	possibly damaging	Het
Olfr607	C	T	7: 103,460,385		silent	Het
Olfr677	T	C	7: 105,056,504	I86T	probably damaging	Het
Pate2	A	T	9: 35,670,482	D24V	possibly damaging	Het
Plcb3	T	C	19: 6,954,749	I1124V	possibly damaging	Het
Ptprc	A	T	1: 138,117,720		probably benign	Het
Rab6a	T	C	7: 100,608,171		probably benign	Het
Rnf208	G	T	2: 25,243,333	W13L	possibly damaging	Het
Rps6kl1	G	T	12: 85,146,901	Q139K	possibly damaging	Het
Sdk1	T	A	5: 141,956,124	I509N	probably damaging	Het
Sephs1	A	G	2: 4,893,287	I170V	probably benign	Het
Slc17a8	C	T	10: 89,606,840	D44N	probably benign	Het
Slc23a1	T	A	18: 35,622,296	I489F	probably damaging	Het
Slc25a19	A	T	11: 115,616,592	Y235N	probably damaging	Het
Slc47a2	A	G	11: 61,342,660	V40A	probably benign	Het
Slurp2	C	T	15: 74,743,068	V75I	probably benign	Het
Smc1b	A	C	15: 85,121,641	M354R	probably benign	Het
Spice1	C	A	16: 44,370,752	A323E	possibly damaging	Het
Sptbn2	T	A	19: 4,748,947	V2015E	probably damaging	Het
Sptlc2	A	C	12: 87,369,083	F57V	probably benign	Het
Srsf1	A	G	11: 88,047,879	N14S	possibly damaging	Het
Ssh2	T	A	11: 77,421,366	D228E	probably damaging	Het
Synj2	A	G	17: 6,038,115	*1480W	probably null	Het
Syt14	A	T	1: 192,930,923	M523K	probably damaging	Het
Tff3	A	T	17: 31,129,542	V12E	probably benign	Het
Tgm2	C	A	2: 158,127,342	C371F	probably damaging	Het
Unc5a	A	G	13: 55,004,934	D887G	possibly damaging	Het
Vstm4	G	T	14: 32,919,290	A277S	probably benign	Het
Wdtc1	A	T	4: 133,294,391		probably null	Het
Zan	A	G	5: 137,468,338	F419S	possibly damaging	Het
Zfp317	G	A	9: 19,647,288	R266Q	probably damaging	Het
Zfp931	T	A	2: 178,067,802	T264S	possibly 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
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
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'- TATTAGCATGGCTGTTAGCGTC -3'
(R):5'- TATTGTTAAAGCCTCGGGTCAC -3'

Sequencing Primer
(F):5'- CATGGCTGTTAGCGTCTCAGG -3'
(R):5'- GTTAAAGCCTCGGGTCACTTAAGC -3'

Posted On

2016-10-26