Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00324:Tmem260'

5885

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00324

Quality Score

Status

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48486879 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 205 (F205L)

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: F395L

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

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: F395L

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: F243L

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

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: F243L

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 benign
Transcript: ENSMUST00000226422
AA Change: F395L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000227440
AA Change: F395L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000228697
AA Change: F205L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	T	C	3: 121,776,993		probably benign	Het
Cdk12	T	A	11: 98,245,388	L1156Q	unknown	Het
Ctsl	T	C	13: 64,368,168	Y66C	probably damaging	Het
Esd	C	T	14: 74,736,027	H21Y	probably damaging	Het
Fcrlb	A	C	1: 170,908,824	Y128D	possibly damaging	Het
Gm17027	A	T	14: 42,159,310	N196K	unknown	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Hpcal1	A	G	12: 17,791,145	S175G	probably benign	Het
Itgam	A	T	7: 128,085,661	D401V	probably damaging	Het
Kank1	A	G	19: 25,411,758	T932A	probably benign	Het
Lmod1	A	G	1: 135,364,478	K357R	probably benign	Het
Muc4	A	G	16: 32,778,812	I3271V	probably benign	Het
Nlrc5	A	G	8: 94,521,479	K1692E	probably damaging	Het
Ocln	A	G	13: 100,535,013	W279R	probably damaging	Het
Olfr1181	T	C	2: 88,423,786	I80V	probably benign	Het
Pcsk1	A	G	13: 75,132,087	K677R	probably benign	Het
Pitrm1	T	A	13: 6,568,666	L586Q	probably damaging	Het
Plppr3	G	A	10: 79,866,669	S217L	probably damaging	Het
Pnldc1	A	T	17: 12,905,758		probably benign	Het
Pramef12	A	G	4: 144,394,740	L238P	possibly damaging	Het
Pramef8	T	A	4: 143,416,667	M1K	probably null	Het
Sema6b	C	T	17: 56,130,048	D204N	probably damaging	Het
Slc12a5	A	G	2: 164,997,121	N1063S	probably damaging	Het
Tg	T	C	15: 66,693,424	V1205A	probably benign	Het
Trappc11	A	T	8: 47,503,302		probably benign	Het
Tsen34	A	G	7: 3,700,531	*296W	probably null	Het
Ubr2	A	G	17: 46,986,060		probably benign	Het
Vmn2r23	T	A	6: 123,729,725	W505R	possibly damaging	Het
Wbp11	A	G	6: 136,821,670		probably benign	Het
Znfx1	A	T	2: 167,036,729	M1909K	possibly damaging	Het

Other mutations in Tmem260

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
R9634:Tmem260	UTSW	14	48472359	missense	probably damaging	1.00

Posted On

2012-04-20