Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03081:Tmem260'

417853

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03081

Quality Score

Status

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 48496293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 216 (I216L)

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: I406L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: I406L

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: I254L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: I254L

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: I406L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227440
AA Change: I406L

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000228697
AA Change: I216L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	C	A	19: 43,782,402		probably benign	Het
Acan	T	G	7: 79,098,543	S1021A	probably benign	Het
Adamts6	A	G	13: 104,444,956		probably benign	Het
Apc2	A	G	10: 80,312,252	K1018E	probably damaging	Het
Arhgef28	A	T	13: 98,029,373		probably benign	Het
Atp2b1	T	C	10: 98,994,813		probably benign	Het
Cct6b	A	T	11: 82,764,169	L20*	probably null	Het
Cd300ld2	G	A	11: 115,012,542		probably benign	Het
Cdc23	T	G	18: 34,636,704	K454T	probably damaging	Het
Cdh20	A	T	1: 104,941,257	I158F	probably damaging	Het
Cdk14	C	T	5: 4,949,527		probably benign	Het
Ces1d	C	A	8: 93,169,718		probably null	Het
Clec2i	A	T	6: 128,894,765	Y113F	probably damaging	Het
Dmpk	T	A	7: 19,087,533	S239T	probably damaging	Het
Dnah8	T	C	17: 30,686,373		probably benign	Het
Exoc2	A	G	13: 30,900,902	Y359H	probably benign	Het
Eya1	A	T	1: 14,183,191	F520L	possibly damaging	Het
Fgfr1op2	A	T	6: 146,597,319	I217F	probably damaging	Het
Gm12258	A	G	11: 58,858,259	N87D	probably benign	Het
Gp6	A	G	7: 4,371,648	S225P	probably benign	Het
Hdac7	T	C	15: 97,798,306	Y619C	probably damaging	Het
Lars	A	G	18: 42,210,091	I1087T	probably benign	Het
Lrrc37a	G	T	11: 103,456,595	H3091Q	unknown	Het
Mcm3ap	T	C	10: 76,470,316	S88P	possibly damaging	Het
Mrps23	G	A	11: 88,210,217	R117Q	probably benign	Het
Nbea	T	C	3: 56,079,918	S384G	probably damaging	Het
Ndufs4	A	T	13: 114,307,837	I135N	possibly damaging	Het
Noto	T	C	6: 85,424,109	F40S	probably damaging	Het
Nr5a1	A	T	2: 38,710,532	V41D	possibly damaging	Het
Olfr914	C	T	9: 38,606,870	A135V	probably benign	Het
Papola	T	A	12: 105,818,855	H415Q	probably damaging	Het
Pcm1	C	T	8: 41,275,060	T557I	probably damaging	Het
Pde11a	A	T	2: 76,075,930		probably benign	Het
Pls1	A	G	9: 95,773,643	V352A	probably damaging	Het
Pygm	T	C	19: 6,388,821	S226P	possibly damaging	Het
Rnf17	T	A	14: 56,434,371	S273R	probably benign	Het
Scamp2	T	C	9: 57,587,127	V261A	possibly damaging	Het
Slc7a12	T	A	3: 14,481,255	F153L	probably benign	Het
Smchd1	A	T	17: 71,360,191	D1735E	probably damaging	Het
Stk40	A	G	4: 126,123,714		probably null	Het
Tas2r124	C	T	6: 132,755,534	L269F	possibly damaging	Het
Ubr1	C	A	2: 120,961,156	A116S	possibly damaging	Het
Unc13a	T	C	8: 71,649,549	K991R	probably damaging	Het
Vmn2r66	T	C	7: 85,007,930	Y89C	probably benign	Het
Vps13b	A	C	15: 35,875,820	I2784L	probably damaging	Het
Zbtb26	T	A	2: 37,436,600	K141N	possibly damaging	Het
Zranb1	T	A	7: 132,950,397	M259K	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
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
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

Posted On

2016-08-02