Mutagenetix > Incidental Mutations

Incidental Mutation 'R9056:Tmem260'

688709

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9056 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48480317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 121 (V121E)

Ref Sequence

ENSEMBL: ENSMUSP00000118376 (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: V273E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: V273E

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: V121E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: V121E

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 benign
Transcript: ENSMUST00000226422
AA Change: V273E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000227440
AA Change: V273E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000228697

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,624,472	R782C	possibly damaging	Het
4932415D10Rik	T	C	10: 82,291,267	T1970A	probably benign	Het
Abca13	T	C	11: 9,464,921	I3996T	probably damaging	Het
Adgra1	A	G	7: 139,852,576	N110S	probably damaging	Het
Arhgap31	T	C	16: 38,606,655	T612A	probably benign	Het
Atp13a4	C	T	16: 29,471,888		probably null	Het
C1rb	T	C	6: 124,577,025	S352P	probably damaging	Het
Cc2d2b	T	C	19: 40,795,772	I671T	unknown	Het
Cmas	A	G	6: 142,764,379	D116G	probably damaging	Het
Col24a1	T	C	3: 145,315,248	V460A	probably damaging	Het
Cubn	T	G	2: 13,456,655	D687A	probably damaging	Het
Cul9	A	C	17: 46,543,770	V2G	probably damaging	Het
Elp3	T	C	14: 65,560,133	Y382C	probably damaging	Het
Fbxo11	A	T	17: 88,002,821	I443K		Het
Fdps	G	A	3: 89,099,332	R84W	probably benign	Het
Helz	C	T	11: 107,656,193	A1112V	possibly damaging	Het
Herc1	T	A	9: 66,473,500	M3553K	probably benign	Het
Hspa12a	T	C	19: 58,825,288	Y135C	probably damaging	Het
Hspa1l	A	G	17: 34,977,873	Y296C	probably benign	Het
Ifna12	T	G	4: 88,602,842	E156A	possibly damaging	Het
Ilf3	C	T	9: 21,403,138	Q689*	probably null	Het
Ints1	A	G	5: 139,774,286		probably null	Het
Itga8	T	A	2: 12,230,208	D413V	possibly damaging	Het
Kcnd3	C	T	3: 105,666,974	L492F	possibly damaging	Het
Kcnh5	T	C	12: 74,898,000	K825R	probably benign	Het
Kcnma1	A	G	14: 23,650,146	I194T	possibly damaging	Het
Kmo	A	G	1: 175,637,542	R30G	probably damaging	Het
Krtap19-4	C	A	16: 88,884,913	G52C	unknown	Het
Ksr1	A	G	11: 79,027,639	V563A	possibly damaging	Het
Lyn	A	T	4: 3,780,925	M355L	possibly damaging	Het
Med13	A	T	11: 86,298,834	L1083*	probably null	Het
Mfsd13a	A	G	19: 46,366,461	T26A	probably benign	Het
Mup14	T	C	4: 61,303,431	I41V	probably benign	Het
Myo9b	T	A	8: 71,352,262	S1466T	probably benign	Het
Nampt	T	C	12: 32,838,459		probably null	Het
Nbeal1	T	C	1: 60,278,726	Y1941H	probably damaging	Het
Nyap2	C	T	1: 81,336,599	A670V	probably benign	Het
Olfr1294	T	C	2: 111,538,143	I49V	probably benign	Het
Olfr171	A	G	16: 19,625,041	S20P	probably benign	Het
Olfr63	A	G	17: 33,268,820	Y32C	probably damaging	Het
Olfr734	T	C	14: 50,320,542	I98V	probably damaging	Het
Olfr949-ps1	T	C	9: 39,365,120	V187A	unknown	Het
Pcdh15	A	G	10: 74,385,899	D677G	probably damaging	Het
Pogz	T	A	3: 94,880,219	S1373T	probably benign	Het
Ptprj	T	C	2: 90,458,269	D691G	probably benign	Het
Qpctl	T	A	7: 19,147,036	D157V	probably damaging	Het
Rbbp8	T	C	18: 11,677,620	F60L	possibly damaging	Het
Ripor1	T	A	8: 105,617,440	L402Q	possibly damaging	Het
Rptn	C	T	3: 93,397,105	H582Y	probably benign	Het
Rusc1	T	A	3: 89,089,683	Q611L	probably damaging	Het
Ryr2	A	G	13: 11,595,931	V4003A	possibly damaging	Het
Siglech	T	A	7: 55,772,546	W300R	probably benign	Het
Slc25a51	T	C	4: 45,399,494	D232G	probably damaging	Het
Slc6a11	T	A	6: 114,243,944	C479S	probably benign	Het
Sspo	G	T	6: 48,473,674	G2599V	probably damaging	Het
Tfpt	T	A	7: 3,624,605	E116V	probably null	Het
Tmem54	T	C	4: 129,108,327	F45L	probably benign	Het
Trim2	T	A	3: 84,172,821	N631I	probably damaging	Het
Tshr	C	T	12: 91,507,789	T179I	probably damaging	Het
Vmn1r40	A	G	6: 89,714,216	N5S	probably benign	Het
Vmn2r68	A	G	7: 85,222,212	V621A	possibly damaging	Het
Zc2hc1c	TTTATCC	T	12: 85,296,456		probably benign	Het
Zfp644	G	A	5: 106,636,078	Q837*	probably null	Het
Zfp773	A	T	7: 7,132,990	N202K	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
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
R9096:Tmem260	UTSW	14	48520346	missense	unknown
R9384:Tmem260	UTSW	14	48486819	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTTATCCTAAAAGCTTCCTAGTGGG -3'
(R):5'- TGGAAAGCTAAAGCACTTGGC -3'

Sequencing Primer
(F):5'- AAGCTTCCTAGTGGGTGCCTAAAG -3'
(R):5'- CACTTGGCAATACAGTGTGC -3'

Posted On

2021-11-19