Mutagenetix > Incidental Mutation

Incidental Mutation 'R4791:Tmem260'

368614

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

041976-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4791 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

CAGGGACCGGCATAG to CAG at 48511994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154360 (fasta)

Gene Model

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

AlphaFold

Q8BMD6

Predicted Effect

probably benign
Transcript: ENSMUST00000111735

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339

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

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: ENSMUST00000226344

Predicted Effect

probably benign
Transcript: ENSMUST00000226422

Predicted Effect

probably benign
Transcript: ENSMUST00000227440

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 45,982,160 (GRCm38)	V1231M	probably benign	Het
Agl	A	G	3: 116,786,528 (GRCm38)		probably null	Het
Ak7	T	C	12: 105,710,145 (GRCm38)	F35L	probably benign	Het
Aldh1a1	A	G	19: 20,619,985 (GRCm38)	N110S	probably damaging	Het
Arhgef5	C	T	6: 43,283,183 (GRCm38)	L1368F	probably damaging	Het
Atp5mf	T	C	5: 145,184,555 (GRCm38)	Y72C	possibly damaging	Het
Atp6v0a2	T	G	5: 124,646,727 (GRCm38)	F317V	probably benign	Het
Bank1	A	T	3: 136,254,929 (GRCm38)	S56T	probably benign	Het
Cachd1	T	A	4: 100,918,085 (GRCm38)	C166S	probably damaging	Het
Cand1	A	G	10: 119,210,702 (GRCm38)	I961T	probably benign	Het
Ccdc73	G	A	2: 104,981,105 (GRCm38)		probably null	Het
Cct6b	A	T	11: 82,742,004 (GRCm38)		probably null	Het
Chd2	A	C	7: 73,468,577 (GRCm38)	S1098A	probably benign	Het
Col6a4	A	T	9: 106,080,202 (GRCm38)	V141E	possibly damaging	Het
Col6a5	T	C	9: 105,930,784 (GRCm38)	T1022A	unknown	Het
Cr2	A	T	1: 195,155,935 (GRCm38)	C698S	probably damaging	Het
Dnaaf5	C	A	5: 139,184,650 (GRCm38)	Q786K	possibly damaging	Het
Dnah6	T	C	6: 73,095,074 (GRCm38)	D2423G	probably benign	Het
Dnhd1	T	C	7: 105,721,117 (GRCm38)	F4583S	probably damaging	Het
Duoxa2	A	T	2: 122,301,198 (GRCm38)	T123S	probably damaging	Het
Edem1	T	G	6: 108,841,634 (GRCm38)	V201G	probably damaging	Het
Eef1d	C	T	15: 75,903,682 (GRCm38)	A43T	possibly damaging	Het
Elavl3	T	C	9: 22,024,678 (GRCm38)	K249E	probably damaging	Het
Epg5	G	T	18: 77,948,996 (GRCm38)	E303*	probably null	Het
Fam83h	T	C	15: 76,002,368 (GRCm38)	D1040G	probably damaging	Het
Fndc7	A	T	3: 108,876,659 (GRCm38)	F211L	probably benign	Het
Fsip2	A	G	2: 82,982,108 (GRCm38)	T2924A	possibly damaging	Het
Gm5616	T	C	9: 48,450,683 (GRCm38)		noncoding transcript	Het
Gpr135	T	A	12: 72,069,868 (GRCm38)	D375V	probably benign	Het
Hgd	A	G	16: 37,631,825 (GRCm38)	*446W	probably null	Het
Hivep2	C	A	10: 14,128,969 (GRCm38)	T437K	probably benign	Het
Htra2	A	G	6: 83,051,817 (GRCm38)	L379P	probably damaging	Het
Hypk	G	T	2: 121,457,655 (GRCm38)		probably null	Het
Ica1l	A	G	1: 60,010,201 (GRCm38)	F198L	probably damaging	Het
Igsf11	G	A	16: 39,024,864 (GRCm38)	S319N	probably damaging	Het
Il12rb1	T	C	8: 70,813,368 (GRCm38)	S213P	possibly damaging	Het
Katnal1	C	T	5: 148,904,650 (GRCm38)	V135M	probably damaging	Het
Kcnc4	G	A	3: 107,447,543 (GRCm38)	P530S	probably benign	Het
Kcnu1	T	C	8: 25,913,752 (GRCm38)	Y24H	probably damaging	Het
Kdm5b	A	G	1: 134,630,800 (GRCm38)	E1515G	possibly damaging	Het
Kif18a	A	T	2: 109,287,875 (GRCm38)	M12L	probably benign	Het
Klre1	T	C	6: 129,584,155 (GRCm38)	S160P	probably damaging	Het
Lama2	A	T	10: 27,467,271 (GRCm38)	H68Q	probably damaging	Het
Lgals8	T	C	13: 12,453,322 (GRCm38)	K49R	possibly damaging	Het
Lmf1	G	A	17: 25,654,471 (GRCm38)	V317M	probably damaging	Het
Lsr	T	C	7: 30,958,552 (GRCm38)	T328A	probably damaging	Het
Mark4	C	T	7: 19,451,657 (GRCm38)	E51K	probably benign	Het
Mindy2	T	C	9: 70,634,001 (GRCm38)		probably null	Het
Mkks	G	A	2: 136,876,162 (GRCm38)	T400I	probably benign	Het
Mon2	T	A	10: 123,006,057 (GRCm38)	M1544L	probably benign	Het
Mrc2	G	A	11: 105,348,431 (GRCm38)		probably null	Het
Myo5c	T	G	9: 75,290,916 (GRCm38)	L1341R	probably damaging	Het
Nin	T	C	12: 70,043,807 (GRCm38)	R945G	possibly damaging	Het
Nox4	T	C	7: 87,304,847 (GRCm38)	V120A	probably benign	Het
Or1s2	T	A	19: 13,781,342 (GRCm38)	C243*	probably null	Het
Or2aj4	G	T	16: 19,566,663 (GRCm38)	H73Q	possibly damaging	Het
Or2z2	A	T	11: 58,455,544 (GRCm38)	V135E	possibly damaging	Het
Or4a66	C	T	2: 88,700,898 (GRCm38)	V144I	probably benign	Het
Or7g29	T	C	9: 19,375,809 (GRCm38)	E24G	probably benign	Het
Plekha2	T	A	8: 25,042,762 (GRCm38)	R398W	probably damaging	Het
Pradc1	A	G	6: 85,447,191 (GRCm38)	W58R	probably damaging	Het
Pramel20	A	G	4: 143,570,989 (GRCm38)		probably benign	Het
Prrc2b	A	G	2: 32,217,339 (GRCm38)		probably null	Het
Psg19	T	A	7: 18,794,146 (GRCm38)	N224I	probably damaging	Het
Ranbp17	A	C	11: 33,487,746 (GRCm38)	V164G	probably benign	Het
Rasgrp3	A	G	17: 75,500,173 (GRCm38)	S211G	probably benign	Het
Rcc1l	G	A	5: 134,163,776 (GRCm38)	P270S	possibly damaging	Het
Rfx6	T	A	10: 51,719,944 (GRCm38)		probably null	Het
Rnf222	A	T	11: 68,893,019 (GRCm38)	E137D	probably damaging	Het
Selenof	T	G	3: 144,596,823 (GRCm38)	Y120D	probably damaging	Het
Sema3b	G	T	9: 107,603,813 (GRCm38)	D108E	probably damaging	Het
Shank3	T	A	15: 89,500,354 (GRCm38)	L143Q	probably damaging	Het
Shtn1	G	C	19: 59,050,873 (GRCm38)	R45G	probably damaging	Het
Sirt4	T	C	5: 115,480,314 (GRCm38)	T234A	possibly damaging	Het
Slc25a30	C	A	14: 75,763,366 (GRCm38)	W266L	probably benign	Het
Spata20	A	T	11: 94,484,586 (GRCm38)	N127K	probably damaging	Het
Spmip4	G	T	6: 50,595,837 (GRCm38)	P32Q	probably damaging	Het
St14	C	T	9: 31,095,622 (GRCm38)	G636D	probably benign	Het
Stat5a	G	A	11: 100,865,463 (GRCm38)	E170K	probably damaging	Het
Sugp2	C	T	8: 70,242,790 (GRCm38)	R138C	probably damaging	Het
Sult1e1	C	A	5: 87,586,730 (GRCm38)	W119L	possibly damaging	Het
Sv2a	T	C	3: 96,192,558 (GRCm38)	V608A	possibly damaging	Het
Syne2	T	C	12: 75,909,244 (GRCm38)	Y575H	possibly damaging	Het
Taok2	G	A	7: 126,868,132 (GRCm38)	S167L	possibly damaging	Het
Thoc6	T	C	17: 23,670,067 (GRCm38)	H151R	possibly damaging	Het
Tm9sf2	T	C	14: 122,139,650 (GRCm38)	S197P	probably benign	Het
Tmx2	G	A	2: 84,677,996 (GRCm38)	P15L	probably damaging	Het
Top1mt	C	T	15: 75,668,625 (GRCm38)		probably null	Het
Trpm6	T	A	19: 18,867,981 (GRCm38)	S1682T	probably benign	Het
Trrap	C	T	5: 144,803,277 (GRCm38)	R1171W	probably damaging	Het
Ugt3a2	A	G	15: 9,361,579 (GRCm38)	D147G	probably damaging	Het
Utp25	G	A	1: 193,128,267 (GRCm38)	H143Y	probably benign	Het
Vnn3	A	G	10: 23,864,621 (GRCm38)	H274R	probably benign	Het
Vwf	C	A	6: 125,643,363 (GRCm38)	T1668K		Het
Zfp568	T	C	7: 30,015,183 (GRCm38)	S162P	probably damaging	Het
Zfp658	T	A	7: 43,574,466 (GRCm38)	C722S	possibly damaging	Het
Zfp808	T	A	13: 62,171,231 (GRCm38)	H91Q	probably damaging	Het

Other mutations in Tmem260

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Tmem260	APN	14	48,486,879 (GRCm38)	missense	probably benign	0.27
IGL00338:Tmem260	APN	14	48,477,636 (GRCm38)	missense	probably damaging	0.97
IGL00508:Tmem260	APN	14	48,509,121 (GRCm38)	missense	probably damaging	0.99
IGL01308:Tmem260	APN	14	48,511,958 (GRCm38)	missense	probably damaging	1.00
IGL01548:Tmem260	APN	14	48,480,325 (GRCm38)	missense	possibly damaging	0.60
IGL01952:Tmem260	APN	14	48,472,476 (GRCm38)	missense	probably damaging	1.00
IGL03068:Tmem260	APN	14	48,486,914 (GRCm38)	splice site	probably benign
IGL03081:Tmem260	APN	14	48,496,293 (GRCm38)	missense	probably benign	0.14
R0131:Tmem260	UTSW	14	48,483,322 (GRCm38)	nonsense	probably null
R0131:Tmem260	UTSW	14	48,483,322 (GRCm38)	nonsense	probably null
R0132:Tmem260	UTSW	14	48,483,322 (GRCm38)	nonsense	probably null
R0149:Tmem260	UTSW	14	48,452,047 (GRCm38)	missense	possibly damaging	0.88
R0361:Tmem260	UTSW	14	48,452,047 (GRCm38)	missense	possibly damaging	0.88
R0396:Tmem260	UTSW	14	48,486,867 (GRCm38)	missense	possibly damaging	0.83
R0524:Tmem260	UTSW	14	48,472,478 (GRCm38)	missense	probably benign	0.00
R1734:Tmem260	UTSW	14	48,509,093 (GRCm38)	missense	probably benign	0.00
R2152:Tmem260	UTSW	14	48,477,609 (GRCm38)	missense	possibly damaging	0.62
R2474:Tmem260	UTSW	14	48,496,324 (GRCm38)	missense	probably null	0.90
R2928:Tmem260	UTSW	14	48,486,750 (GRCm38)	missense	probably damaging	1.00
R2999:Tmem260	UTSW	14	48,484,989 (GRCm38)	missense	possibly damaging	0.92
R3030:Tmem260	UTSW	14	48,485,001 (GRCm38)	missense	probably damaging	1.00
R4273:Tmem260	UTSW	14	48,505,304 (GRCm38)	missense	probably benign	0.11
R4276:Tmem260	UTSW	14	48,477,636 (GRCm38)	missense	probably damaging	0.97
R4277:Tmem260	UTSW	14	48,477,636 (GRCm38)	missense	probably damaging	0.97
R4278:Tmem260	UTSW	14	48,477,636 (GRCm38)	missense	probably damaging	0.97
R4792:Tmem260	UTSW	14	48,511,994 (GRCm38)	intron	probably benign
R4810:Tmem260	UTSW	14	48,472,473 (GRCm38)	missense	probably damaging	0.99
R5189:Tmem260	UTSW	14	48,509,116 (GRCm38)	missense	probably benign	0.01
R5280:Tmem260	UTSW	14	48,505,259 (GRCm38)	missense	probably benign	0.02
R5289:Tmem260	UTSW	14	48,486,810 (GRCm38)	missense	possibly damaging	0.79
R5322:Tmem260	UTSW	14	48,486,849 (GRCm38)	missense	probably damaging	0.99
R5491:Tmem260	UTSW	14	48,512,170 (GRCm38)	splice site	probably null
R5593:Tmem260	UTSW	14	48,474,044 (GRCm38)	missense	probably benign	0.38
R5606:Tmem260	UTSW	14	48,484,980 (GRCm38)	missense	probably damaging	1.00
R5824:Tmem260	UTSW	14	48,505,328 (GRCm38)	missense	probably damaging	1.00
R5947:Tmem260	UTSW	14	48,486,801 (GRCm38)	missense	possibly damaging	0.93
R6587:Tmem260	UTSW	14	48,496,456 (GRCm38)	splice site	probably null
R7234:Tmem260	UTSW	14	48,505,329 (GRCm38)	nonsense	probably null
R7236:Tmem260	UTSW	14	48,509,190 (GRCm38)	splice site	probably null
R7836:Tmem260	UTSW	14	48,509,062 (GRCm38)	missense	probably benign	0.04
R8795:Tmem260	UTSW	14	48,451,913 (GRCm38)	missense	probably damaging	1.00
R8895:Tmem260	UTSW	14	48,500,388 (GRCm38)	unclassified	probably benign
R9056:Tmem260	UTSW	14	48,480,317 (GRCm38)	missense	probably benign
R9096:Tmem260	UTSW	14	48,520,346 (GRCm38)	missense	unknown
R9384:Tmem260	UTSW	14	48,486,819 (GRCm38)	missense	probably benign	0.00
R9634:Tmem260	UTSW	14	48,472,359 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTTCTGCATGGCCTGGC -3'
(R):5'- AGCAGGGCTACCACACTTTG -3'

Sequencing Primer
(F):5'- GGCCTGGCAATGATTAGATTTTTAC -3'
(R):5'- ACACTTTGCTGGCTCAGAC -3'

Posted On

2016-02-04