Mutagenetix > Incidental Mutation

Incidental Mutation 'R0361:Tmem260'

30137

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

038567-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0361 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

48683581-48761703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48689504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 108 (T108S)

Ref Sequence

ENSEMBL: ENSMUSP00000154360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111735] [ENSMUST00000124720] [ENSMUST00000153765] [ENSMUST00000226400] [ENSMUST00000226422] [ENSMUST00000227440]

AlphaFold

Q8BMD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111735
AA Change: T108S

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: T108S

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

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339

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

possibly damaging
Transcript: ENSMUST00000153765
AA Change: T108S

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116155
Gene: ENSMUSG00000036339
AA Change: T108S

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: ENSMUST00000226400

Predicted Effect

probably benign
Transcript: ENSMUST00000226422
AA Change: T108S

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227440
AA Change: T108S

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227942

Meta Mutation Damage Score

0.1130

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

100% (1/1)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	G	3: 124,207,283 (GRCm39)	T303P	possibly damaging	Het
1700010I14Rik	G	T	17: 9,211,378 (GRCm39)	V176L	probably benign	Het
1700034J05Rik	T	C	6: 146,853,869 (GRCm39)	T262A	possibly damaging	Het
Adgrl3	A	T	5: 81,908,544 (GRCm39)	I1165F	probably damaging	Het
Ankhd1	T	C	18: 36,780,267 (GRCm39)	I1773T	probably damaging	Het
Api5	A	T	2: 94,253,842 (GRCm39)	L287*	probably null	Het
Apol10b	A	T	15: 77,469,586 (GRCm39)	M197K	possibly damaging	Het
Bcl2	G	A	1: 106,640,424 (GRCm39)	R63W	probably damaging	Het
Cacna1h	A	G	17: 25,608,396 (GRCm39)	M731T	probably damaging	Het
Cav1	C	A	6: 17,339,352 (GRCm39)	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,881,820 (GRCm39)	I1118F	probably damaging	Het
Cdk7	A	T	13: 100,848,062 (GRCm39)	Y153*	probably null	Het
Cemip	A	G	7: 83,613,218 (GRCm39)	I660T	probably benign	Het
Cfap65	A	T	1: 74,964,599 (GRCm39)	L518Q	probably damaging	Het
Cgas	T	A	9: 78,340,534 (GRCm39)	K399N	probably damaging	Het
Cngb3	A	G	4: 19,366,467 (GRCm39)	H176R	probably benign	Het
Cstdc4	T	C	16: 36,004,648 (GRCm39)	S7P	probably damaging	Het
Cux1	T	A	5: 136,308,351 (GRCm39)	I1263F	probably damaging	Het
Dnajc13	A	G	9: 104,044,258 (GRCm39)	M1867T	probably benign	Het
Dock2	A	G	11: 34,388,327 (GRCm39)	L202P	probably damaging	Het
Dyrk3	A	G	1: 131,057,769 (GRCm39)	S100P	probably benign	Het
Efr3b	A	T	12: 4,027,923 (GRCm39)	S376T	probably benign	Het
Eps8l2	A	C	7: 140,936,112 (GRCm39)	N222T	probably benign	Het
Ermp1	A	T	19: 29,608,806 (GRCm39)	Y158N	probably damaging	Het
Fam13a	A	G	6: 58,964,159 (GRCm39)	V91A	probably benign	Het
Fat3	A	G	9: 15,909,699 (GRCm39)	V2101A	possibly damaging	Het
Fsip2	T	C	2: 82,805,849 (GRCm39)	S723P	possibly damaging	Het
Garem1	G	T	18: 21,432,801 (GRCm39)	C9*	probably null	Het
Gdpd5	A	G	7: 99,107,997 (GRCm39)	I530V	possibly damaging	Het
Gm15217	T	A	14: 46,617,841 (GRCm39)		probably benign	Het
Gm4922	T	C	10: 18,659,289 (GRCm39)	T478A	probably benign	Het
H2-M5	A	G	17: 37,298,328 (GRCm39)	I329T	possibly damaging	Het
Ing4	G	A	6: 125,024,857 (GRCm39)	C200Y	probably damaging	Het
Kcnip1	A	T	11: 33,793,177 (GRCm39)	M5K	probably benign	Het
Kdsr	T	C	1: 106,675,517 (GRCm39)	E102G	probably damaging	Het
Krt15	C	T	11: 100,024,007 (GRCm39)	V346M	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrrc55	A	T	2: 85,026,589 (GRCm39)	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,345,985 (GRCm39)	I439T	probably benign	Het
Map2k6	T	C	11: 110,390,335 (GRCm39)	F290L	probably damaging	Het
Me1	T	A	9: 86,533,055 (GRCm39)	I136F	probably damaging	Het
Mfap2	A	G	4: 140,742,294 (GRCm39)	D98G	probably damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mst1	T	C	9: 107,962,096 (GRCm39)	F696L	probably damaging	Het
Mta1	A	G	12: 113,096,961 (GRCm39)		probably null	Het
Myh15	A	T	16: 48,934,368 (GRCm39)	N645I	probably benign	Het
Myo7b	T	A	18: 32,147,262 (GRCm39)	I94F	probably damaging	Het
Nefh	A	T	11: 4,890,799 (GRCm39)	S607T	probably benign	Het
Noa1	G	A	5: 77,445,020 (GRCm39)	Q600*	probably null	Het
Nr2f2	A	G	7: 70,007,810 (GRCm39)	V71A	possibly damaging	Het
Oas2	A	T	5: 120,876,466 (GRCm39)	F492L	probably damaging	Het
Olfm3	T	A	3: 114,914,622 (GRCm39)	D211E	probably damaging	Het
Or2y17	A	T	11: 49,231,641 (GRCm39)	Y94F	probably benign	Het
Osmr	A	G	15: 6,871,432 (GRCm39)		probably null	Het
Plagl2	A	T	2: 153,073,523 (GRCm39)	D459E	probably benign	Het
Plch2	T	C	4: 155,091,168 (GRCm39)	D148G	possibly damaging	Het
Plxnc1	C	A	10: 94,700,869 (GRCm39)	C605F	probably damaging	Het
Ppm1m	T	C	9: 106,075,325 (GRCm39)	E108G	probably damaging	Het
Prr14l	A	C	5: 32,950,985 (GRCm39)	L1936R	probably damaging	Het
Ralgapa1	A	G	12: 55,723,354 (GRCm39)	I1771T	possibly damaging	Het
Rhobtb2	T	C	14: 70,033,357 (GRCm39)	T538A	probably benign	Het
Rictor	A	G	15: 6,813,588 (GRCm39)	N1025D	possibly damaging	Het
Sec23a	T	G	12: 59,037,804 (GRCm39)	D324A	probably damaging	Het
Srgap1	A	T	10: 121,883,097 (GRCm39)	M1K	probably null	Het
Syne2	T	A	12: 75,965,384 (GRCm39)	F801I	probably benign	Het
Synrg	T	A	11: 83,915,163 (GRCm39)		probably null	Het
Tas2r140	T	G	6: 40,468,232 (GRCm39)	F21V	probably benign	Het
Trim2	T	C	3: 84,098,083 (GRCm39)	Y406C	probably damaging	Het
Ttn	T	C	2: 76,673,746 (GRCm39)		probably benign	Het
Vmn1r53	A	T	6: 90,201,064 (GRCm39)	S87T	possibly damaging	Het
Vmn2r115	T	A	17: 23,564,196 (GRCm39)	Y123N	probably benign	Het
Vmn2r28	T	A	7: 5,496,715 (GRCm39)	I46F	probably benign	Het
Zan	T	C	5: 137,395,028 (GRCm39)	T4381A	unknown	Het
Zfp457	A	G	13: 67,440,710 (GRCm39)	F622L	probably damaging	Het
Zfp994	A	T	17: 22,419,091 (GRCm39)	N619K	probably benign	Het
Zfy1	T	C	Y: 726,121 (GRCm39)	H548R	possibly damaging	Het
Zmym4	A	T	4: 126,804,938 (GRCm39)	S441T	probably benign	Het

Other mutations in Tmem260

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Tmem260	APN	14	48,724,336 (GRCm39)	missense	probably benign	0.27
IGL00338:Tmem260	APN	14	48,715,093 (GRCm39)	missense	probably damaging	0.97
IGL00508:Tmem260	APN	14	48,746,578 (GRCm39)	missense	probably damaging	0.99
IGL01308:Tmem260	APN	14	48,749,415 (GRCm39)	missense	probably damaging	1.00
IGL01548:Tmem260	APN	14	48,717,782 (GRCm39)	missense	possibly damaging	0.60
IGL01952:Tmem260	APN	14	48,709,933 (GRCm39)	missense	probably damaging	1.00
IGL03068:Tmem260	APN	14	48,724,371 (GRCm39)	splice site	probably benign
IGL03081:Tmem260	APN	14	48,733,750 (GRCm39)	missense	probably benign	0.14
R0131:Tmem260	UTSW	14	48,720,779 (GRCm39)	nonsense	probably null
R0131:Tmem260	UTSW	14	48,720,779 (GRCm39)	nonsense	probably null
R0132:Tmem260	UTSW	14	48,720,779 (GRCm39)	nonsense	probably null
R0149:Tmem260	UTSW	14	48,689,504 (GRCm39)	missense	possibly damaging	0.88
R0396:Tmem260	UTSW	14	48,724,324 (GRCm39)	missense	possibly damaging	0.83
R0524:Tmem260	UTSW	14	48,709,935 (GRCm39)	missense	probably benign	0.00
R1734:Tmem260	UTSW	14	48,746,550 (GRCm39)	missense	probably benign	0.00
R2152:Tmem260	UTSW	14	48,715,066 (GRCm39)	missense	possibly damaging	0.62
R2474:Tmem260	UTSW	14	48,733,781 (GRCm39)	missense	probably null	0.90
R2928:Tmem260	UTSW	14	48,724,207 (GRCm39)	missense	probably damaging	1.00
R2999:Tmem260	UTSW	14	48,722,446 (GRCm39)	missense	possibly damaging	0.92
R3030:Tmem260	UTSW	14	48,722,458 (GRCm39)	missense	probably damaging	1.00
R4273:Tmem260	UTSW	14	48,742,761 (GRCm39)	missense	probably benign	0.11
R4276:Tmem260	UTSW	14	48,715,093 (GRCm39)	missense	probably damaging	0.97
R4277:Tmem260	UTSW	14	48,715,093 (GRCm39)	missense	probably damaging	0.97
R4278:Tmem260	UTSW	14	48,715,093 (GRCm39)	missense	probably damaging	0.97
R4791:Tmem260	UTSW	14	48,749,451 (GRCm39)	intron	probably benign
R4792:Tmem260	UTSW	14	48,749,451 (GRCm39)	intron	probably benign
R4810:Tmem260	UTSW	14	48,709,930 (GRCm39)	missense	probably damaging	0.99
R5189:Tmem260	UTSW	14	48,746,573 (GRCm39)	missense	probably benign	0.01
R5280:Tmem260	UTSW	14	48,742,716 (GRCm39)	missense	probably benign	0.02
R5289:Tmem260	UTSW	14	48,724,267 (GRCm39)	missense	possibly damaging	0.79
R5322:Tmem260	UTSW	14	48,724,306 (GRCm39)	missense	probably damaging	0.99
R5491:Tmem260	UTSW	14	48,749,627 (GRCm39)	splice site	probably null
R5593:Tmem260	UTSW	14	48,711,501 (GRCm39)	missense	probably benign	0.38
R5606:Tmem260	UTSW	14	48,722,437 (GRCm39)	missense	probably damaging	1.00
R5824:Tmem260	UTSW	14	48,742,785 (GRCm39)	missense	probably damaging	1.00
R5947:Tmem260	UTSW	14	48,724,258 (GRCm39)	missense	possibly damaging	0.93
R6587:Tmem260	UTSW	14	48,733,913 (GRCm39)	splice site	probably null
R7234:Tmem260	UTSW	14	48,742,786 (GRCm39)	nonsense	probably null
R7236:Tmem260	UTSW	14	48,746,647 (GRCm39)	splice site	probably null
R7836:Tmem260	UTSW	14	48,746,519 (GRCm39)	missense	probably benign	0.04
R8795:Tmem260	UTSW	14	48,689,370 (GRCm39)	missense	probably damaging	1.00
R8895:Tmem260	UTSW	14	48,737,845 (GRCm39)	unclassified	probably benign
R9056:Tmem260	UTSW	14	48,717,774 (GRCm39)	missense	probably benign
R9096:Tmem260	UTSW	14	48,757,803 (GRCm39)	missense	unknown
R9384:Tmem260	UTSW	14	48,724,276 (GRCm39)	missense	probably benign	0.00
R9634:Tmem260	UTSW	14	48,709,816 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGGAGCCACTGCCACTATTGAG -3'
(R):5'- AACCCCGTACATCTGAGGGGTAAG -3'

Sequencing Primer
(F):5'- CAGTTAAAGCCAGTGTGTCAC -3'
(R):5'- TACATCTGAGGGGTAAGGAGGC -3'

Posted On

2013-04-24