Mutagenetix > Incidental Mutations

Incidental Mutation 'R5189:Tmem260'

405071

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

042767-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5189 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48509116 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 616 (H616Q)

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
AA Change: H616Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: H616Q

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: H464Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: H464Q

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
AA Change: H616Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000227440
AA Change: H616Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
2700049A03Rik	C	T	12: 71,193,349	T1311I	possibly damaging	Het
4930505A04Rik	T	C	11: 30,426,169	T233A	probably damaging	Het
Ankar	T	C	1: 72,658,414	I859V	probably benign	Het
Cacnb2	G	T	2: 14,986,038	A644S	possibly damaging	Het
Gatb	T	C	3: 85,636,931	V402A	probably benign	Het
Gpcpd1	T	C	2: 132,553,972	K153R	probably damaging	Het
Hip1	A	G	5: 135,434,293	L60S	probably damaging	Het
Hsf4	GCAGCACCGGGTCA	G	8: 105,271,428		probably null	Het
Hydin	A	T	8: 110,413,211		probably null	Het
Igsf3	A	T	3: 101,431,527	T386S	possibly damaging	Het
Il12rb1	A	G	8: 70,811,058	T88A	possibly damaging	Het
Kank1	T	C	19: 25,424,181	S1051P	probably damaging	Het
Kap	A	G	6: 133,851,916		probably null	Het
Ly96	A	G	1: 16,700,867	E74G	probably damaging	Het
Map7d1	G	T	4: 126,242,304		probably null	Het
Megf6	G	T	4: 154,252,523	R253L	probably benign	Het
Mex3b	A	G	7: 82,869,251	D258G	probably damaging	Het
Mpzl3	T	C	9: 45,062,110	I49T	possibly damaging	Het
Myh15	C	A	16: 49,101,507	T472N	probably benign	Het
Nacad	A	G	11: 6,601,611	S527P	probably damaging	Het
Nkx2-3	T	G	19: 43,612,708	S70A	probably benign	Het
Nkx2-6	A	T	14: 69,171,893	Q31L	probably benign	Het
Olfr522	A	G	7: 140,162,719	V77A	probably damaging	Het
Pcdha6	A	T	18: 36,968,791	N346Y	probably damaging	Het
Pkd2	G	A	5: 104,459,919	D95N	probably benign	Het
Pkhd1l1	A	G	15: 44,547,148	T2684A	probably damaging	Het
Plin2	A	G	4: 86,657,146	Y389H	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Slc41a2	T	C	10: 83,313,411		probably null	Het
Smg6	A	G	11: 75,041,996	T1038A	probably damaging	Het
Suds3	T	C	5: 117,100,599		probably benign	Het
Tbc1d8	T	C	1: 39,385,132	H626R	probably benign	Het
Trip10	A	T	17: 57,261,288		probably null	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubr4	A	G	4: 139,410,649	T1106A	probably benign	Het
Vmn1r84	A	T	7: 12,362,458	S103T	probably benign	Het
Vps13a	G	T	19: 16,685,315	P1602Q	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
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'- CACAGTGATGAGCCTTTTCCC -3'
(R):5'- GACCCTTAGCTTCAACACTGTTTG -3'

Sequencing Primer
(F):5'- GTGATGAGCCTTTTCCCAAAAC -3'
(R):5'- TGTGACACAACTGAATGCTCTC -3'

Posted On

2016-07-22