Mutagenetix > Incidental Mutations

Incidental Mutation 'R2474:Tmem260'

253304

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

040405-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2474 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48496324 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 226 (D226G)

Ref Sequence

ENSEMBL: ENSMUSP00000153822 (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: D416G

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: D416G

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: D264G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: D264G

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: D416G

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227440
AA Change: D416G

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

Predicted Effect

probably null
Transcript: ENSMUST00000228697
AA Change: D226G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1471

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,542,724	T678A	probably benign	Het
Asb7	A	T	7: 66,679,153	N46K	probably damaging	Het
Atxn7l2	A	C	3: 108,203,977	S414R	probably damaging	Het
Bckdk	C	A	7: 127,905,418	R105S	probably damaging	Het
Cxcl13	C	T	5: 95,959,957	Q91*	probably null	Het
Dchs1	T	C	7: 105,755,074	N2754D	probably benign	Het
Dchs1	A	T	7: 105,772,838	V125E	probably damaging	Het
Enpep	G	C	3: 129,284,158	S603R	possibly damaging	Het
Greb1	T	C	12: 16,714,953	N393S	possibly damaging	Het
Hfm1	A	T	5: 106,872,416	V1048D	possibly damaging	Het
Ilvbl	T	C	10: 78,576,724	V93A	probably damaging	Het
Itpkb	A	G	1: 180,334,151	D614G	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lgi3	G	A	14: 70,533,249		probably null	Het
Mpeg1	G	A	19: 12,462,249	C357Y	probably damaging	Het
Nedd1	A	G	10: 92,719,603	F7L	probably damaging	Het
Olfr1082	C	A	2: 86,594,613	V72F	probably benign	Het
Olfr943	A	G	9: 39,184,550	D121G	probably damaging	Het
Parp8	A	T	13: 116,893,041	C510S	possibly damaging	Het
Phb	T	C	11: 95,671,422	F42L	possibly damaging	Het
Pik3r1	A	T	13: 101,702,776	Y189*	probably null	Het
Rps5	T	A	7: 12,926,561		probably null	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Senp3	T	A	11: 69,674,097	N516Y	probably damaging	Het
Tfap2b	A	T	1: 19,214,375	H169L	possibly damaging	Het
Ttc6	G	T	12: 57,575,927	R37S	probably benign	Het
Vmn2r84	A	T	10: 130,386,523	D609E	possibly damaging	Het
Vmn2r99	A	T	17: 19,378,629	M192L	probably benign	Het
Zfp746	T	C	6: 48,064,769	D341G	probably damaging	Het
Zfp941	A	T	7: 140,811,471	H658Q	probably damaging	Het
Zw10	T	A	9: 49,066,805	I351N	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
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

Predicted Primers

PCR Primer
(F):5'- CCACTGAGCTCAAAATCTGTTC -3'
(R):5'- GTTTGTCCAGACTCAAGCCAC -3'

Sequencing Primer
(F):5'- GCTCAAAATCTGTTCTGCTTAACTG -3'
(R):5'- TATGCCTCCAAGAACGATGTG -3'

Posted On

2014-12-04