Mutagenetix > Incidental Mutations

Incidental Mutation 'R5322:Tmem260'

404924

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

042905-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5322 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48486849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 385 (R385W)

Ref Sequence

ENSEMBL: ENSMUSP00000154360 (fasta)

Gene Model

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

AlphaFold

Q8BMD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000111735
AA Change: R385W

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: R385W

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 damaging
Transcript: ENSMUST00000124720
AA Change: R233W

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: R233W

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 damaging
Transcript: ENSMUST00000226422
AA Change: R385W

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227440
AA Change: R385W

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000228697
AA Change: R195W

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	G	9: 94,520,562	I349T	probably benign	Het
Adamts3	C	T	5: 89,707,300		probably null	Het
Ankar	T	C	1: 72,690,386		probably null	Het
Ankrd60	T	A	2: 173,568,817	K303N	possibly damaging	Het
Appbp2	A	G	11: 85,196,064		probably null	Het
Arvcf	T	C	16: 18,397,643	M176T	probably benign	Het
Cachd1	T	C	4: 100,952,122	I268T	probably damaging	Het
Ccdc66	A	G	14: 27,482,527	S933P	probably damaging	Het
Cfi	C	T	3: 129,873,040	P471S	probably damaging	Het
Ckmt2	G	T	13: 91,861,772	T143K	possibly damaging	Het
Cnksr3	A	T	10: 7,135,078	D15E	probably damaging	Het
Copb2	A	T	9: 98,585,976	K680N	probably benign	Het
D2hgdh	T	C	1: 93,829,898		probably null	Het
Dcn	A	T	10: 97,517,602	T338S	probably benign	Het
Dnah10	G	A	5: 124,773,566	G1644D	probably damaging	Het
Dnah5	A	G	15: 28,384,244	I3045V	probably benign	Het
Dock3	G	A	9: 106,901,829	T307I	probably benign	Het
Dock5	A	T	14: 67,770,266	I1498N	probably benign	Het
Emc1	A	T	4: 139,354,246	N62Y	probably damaging	Het
Enpp6	C	A	8: 47,068,915	H295N	probably benign	Het
Epha10	A	G	4: 124,885,748	Y129C	probably damaging	Het
Fbn2	A	T	18: 58,039,315	D2139E	probably benign	Het
Fbxl12	A	T	9: 20,639,008	V140E	probably damaging	Het
Fignl1	A	T	11: 11,801,571	F495I	probably damaging	Het
Gm43302	C	T	5: 105,217,481	A554T	probably benign	Het
Gpr157	A	G	4: 150,098,852	N160D	probably benign	Het
Il1rn	G	A	2: 24,348,629		probably null	Het
Kctd13	T	A	7: 126,929,206	L51Q	probably damaging	Het
Kndc1	T	C	7: 139,936,809	F1561L	probably damaging	Het
Mast2	A	G	4: 116,333,411		probably null	Het
Mib1	A	G	18: 10,792,975	H637R	probably damaging	Het
Moxd1	A	T	10: 24,244,253	N93I	possibly damaging	Het
Mycbp2	T	C	14: 103,185,683		probably null	Het
Myot	T	C	18: 44,354,149	F351S	probably benign	Het
N4bp2	T	A	5: 65,790,457	N143K	possibly damaging	Het
Olfr1018	T	A	2: 85,823,187	I72N	probably damaging	Het
Olfr147	A	T	9: 38,403,566	I228F	probably damaging	Het
Olfr243	T	A	7: 103,717,112	W173R	probably benign	Het
Olfr455	T	C	6: 42,539,016	D2G	probably benign	Het
Olfr623	T	C	7: 103,660,672	I193V	possibly damaging	Het
Olfr666	C	T	7: 104,893,164	V155I	probably benign	Het
Olfr917	T	A	9: 38,665,206	I213L	probably benign	Het
Patl1	C	T	19: 11,920,859	R134*	probably null	Het
Paxbp1	T	C	16: 91,015,162	I887V	probably benign	Het
Pi4kb	G	A	3: 94,994,249	R436Q	probably benign	Het
Pla2g3	A	G	11: 3,488,686	E112G	probably benign	Het
Ppp2r2a	A	G	14: 67,038,873		probably null	Het
Rela	T	A	19: 5,645,380	S311R	possibly damaging	Het
Sidt1	T	A	16: 44,281,622		probably benign	Het
Smco2	T	C	6: 146,871,287	L329P	probably damaging	Het
Speer4f1	A	T	5: 17,477,349	I77F	possibly damaging	Het
Tex14	A	G	11: 87,511,472	I462V	probably benign	Het
Trrap	T	C	5: 144,844,224	V2974A	probably damaging	Het
Usp47	C	T	7: 112,053,269	T31I	probably damaging	Het
Zc2hc1a	A	G	3: 7,551,421	N247S	probably benign	Het
Zeb2	A	C	2: 44,997,095	M582R	probably 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
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'- GGGTAAGCTGAGCCTAAGTG -3'
(R):5'- TTCCCAGCCCAGACATCATG -3'

Sequencing Primer
(F):5'- CTGAGCCTAAGTGATAACTGTTGCC -3'
(R):5'- AGACATCATGCTCGACTCTTC -3'

Posted On

2016-07-22