Mutagenetix > Incidental Mutations

Incidental Mutation 'R7234:Tmem260'

562718

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 48505329 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 388 (C388*)

Ref Sequence

ENSEMBL: ENSMUSP00000118376 (fasta)

Gene Model

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

AlphaFold

Q8BMD6

Predicted Effect

probably null
Transcript: ENSMUST00000111735
AA Change: C540*

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: C540*

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: C388*

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: C388*

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

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

probably null
Transcript: ENSMUST00000226422
AA Change: C540*

Predicted Effect

probably null
Transcript: ENSMUST00000227440
AA Change: C540*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Acy3	T	A	19: 3,987,758	Y88*	probably null	Het
AI606181	T	A	19: 41,593,637	I82N	unknown	Het
Akap1	T	C	11: 88,838,982	Y638C	probably damaging	Het
Angpt1	T	C	15: 42,459,725	N383D	probably benign	Het
Ank	T	C	15: 27,571,656		probably null	Het
Aoc1	C	T	6: 48,905,816	Q209*	probably null	Het
Apol7c	A	T	15: 77,525,675	L357*	probably null	Het
Atxn2l	A	G	7: 126,493,201	L958P	probably damaging	Het
Cab39l	T	A	14: 59,496,946		probably null	Het
Cdk5rap2	A	G	4: 70,376,787		probably null	Het
Cdkn3	T	C	14: 46,771,461	S204P	unknown	Het
Cds2	T	C	2: 132,304,480		probably null	Het
Cideb	C	T	14: 55,754,560	R179H	probably benign	Het
Cped1	A	G	6: 22,254,626	Q1006R	probably damaging	Het
Csmd2	A	G	4: 128,456,779	Y1547C		Het
Dicer1	A	G	12: 104,708,849	L718S	probably damaging	Het
Dyrk2	T	C	10: 118,860,231	H374R	possibly damaging	Het
Edem2	A	T	2: 155,710,966	Y283N	probably benign	Het
Ero1lb	A	T	13: 12,600,314	S345C	possibly damaging	Het
Fam83g	T	C	11: 61,702,516	V292A	possibly damaging	Het
Farp2	A	G	1: 93,580,119	D513G	possibly damaging	Het
Fbxl5	A	G	5: 43,758,220	W617R	probably benign	Het
Fzd7	G	A	1: 59,483,284	V109M	probably damaging	Het
Gbp5	A	T	3: 142,521,137	H583L	probably benign	Het
Gm10306	T	A	4: 94,556,795	L84M	unknown	Het
Gm11756	G	T	4: 73,917,571	L219M	probably benign	Het
Gsap	A	G	5: 21,186,435	T25A	probably benign	Het
Hectd4	G	T	5: 121,329,073	R2466L	possibly damaging	Het
Ide	C	A	19: 37,290,785	C557F		Het
Igdcc4	T	A	9: 65,135,468	C1234*	probably null	Het
Ints4	A	G	7: 97,530,300	I701V	probably benign	Het
Kalrn	T	A	16: 34,176,422	I1467F	possibly damaging	Het
Kcnip3	C	A	2: 127,521,336	R2M	unknown	Het
Kcnrg	A	T	14: 61,608,082	E190D	unknown	Het
Klk13	T	C	7: 43,721,417	L131P	probably damaging	Het
Lhcgr	A	T	17: 88,791,931	L14Q	possibly damaging	Het
Mdm4	A	T	1: 133,011,115	D80E	probably damaging	Het
Mib2	G	T	4: 155,657,893	Q311K	probably damaging	Het
Mycbp2	A	T	14: 103,215,337	S1703T	probably damaging	Het
Naip6	A	T	13: 100,315,503	C200*	probably null	Het
Ncapd3	T	A	9: 27,050,359	I361N	probably damaging	Het
Nom1	A	G	5: 29,435,453	E259G	probably benign	Het
Olfr16	T	A	1: 172,957,106	F104I	probably damaging	Het
Olfr620	A	G	7: 103,611,882	L157P	probably damaging	Het
Plxna2	A	T	1: 194,806,390	H1658L	probably damaging	Het
Ranbp6	T	C	19: 29,812,062	T297A	possibly damaging	Het
Rap1gap	T	A	4: 137,728,540	C722*	probably null	Het
Ribc2	A	G	15: 85,135,532	K172E	probably benign	Het
Scamp5	C	A	9: 57,447,140	W77L	probably damaging	Het
Scin	T	A	12: 40,080,958	K319*	probably null	Het
Sec16a	G	T	2: 26,439,768	T745K	probably damaging	Het
Slc15a2	G	A	16: 36,757,811	A403V	probably benign	Het
Slco6c1	A	G	1: 97,125,741	V145A	probably benign	Het
Sncaip	C	T	18: 52,915,344	H951Y	probably benign	Het
Spem1	A	G	11: 69,821,804		probably null	Het
Spen	C	T	4: 141,479,135	R727Q	unknown	Het
Thra	T	C	11: 98,763,718	S305P	probably damaging	Het
Tlr1	A	G	5: 64,926,724	V170A	probably damaging	Het
Tmem60	T	A	5: 20,886,621	V128D	possibly damaging	Het
Tpo	G	A	12: 30,092,686	P680S	probably benign	Het
Ttc30a2	A	T	2: 75,976,196	Y657*	probably null	Het
Umodl1	A	G	17: 30,986,621	E730G	possibly damaging	Het
Vmn2r69	T	C	7: 85,407,107	T608A	probably benign	Het
Xrra1	G	A	7: 99,914,249	S481N	possibly damaging	Het
Zc3h4	G	A	7: 16,429,036	V446I	unknown	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
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
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'- GAAGACGGTTCTCATTGGTTCCAG -3'
(R):5'- AAGGGTATCTCAGAATGTAGCC -3'

Sequencing Primer
(F):5'- ACAAATGGTGTATAAATAACTCAGGC -3'
(R):5'- GGTATCTCAGAATGTAGCCTTTTTC -3'

Posted On

2019-06-26