Mutagenetix > Incidental Mutations

Incidental Mutation 'R9384:Tmem260'

710222

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 #

R9384 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48486819 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 223 (T223A)

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: T375A

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

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: T375A

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: T223A

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

SMART Domains

Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: T223A

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: T375A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000227440
AA Change: T375A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000228697
AA Change: T185A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	C	7: 131,302,675	V2374A	unknown	Het
A3galt2	G	A	4: 128,762,058	C73Y	probably damaging	Het
Agrn	C	T	4: 156,172,649	A1213T	probably damaging	Het
Arhgef10	T	C	8: 14,991,067	L1079P	probably damaging	Het
Ccdc129	A	T	6: 55,975,628	Q852L	probably damaging	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Colca2	T	C	9: 51,272,338	N112S	probably benign	Het
Coro6	A	G	11: 77,469,392	E436G	probably benign	Het
D430041D05Rik	A	G	2: 104,257,575	V352A	probably benign	Het
Dcbld2	C	T	16: 58,465,563	T695I	probably damaging	Het
Dclk1	A	C	3: 55,247,515	Q122P	possibly damaging	Het
Dsel	C	A	1: 111,860,133	E891*	probably null	Het
Eral1	A	T	11: 78,078,304	N123K	probably damaging	Het
Fzd6	C	A	15: 39,031,707	L423M	probably damaging	Het
Fzd6	T	G	15: 39,031,708	L423R	probably damaging	Het
Galntl6	G	T	8: 57,962,427	L231I	probably damaging	Het
Gm7137	A	G	10: 77,787,780	S141P	unknown	Het
Grm5	T	C	7: 88,074,310	Y603H	probably damaging	Het
Hcar2	A	T	5: 123,864,534	F302Y	probably benign	Het
Hs3st1	T	G	5: 39,614,619	D227A	possibly damaging	Het
Igkv7-33	G	T	6: 70,059,190	Q4K	possibly damaging	Het
Kcp	C	T	6: 29,496,619		probably null	Het
Lrrc23	T	C	6: 124,778,226	K116R	possibly damaging	Het
Lrriq1	T	A	10: 103,170,597	R1222S	probably benign	Het
Nav3	T	A	10: 109,718,297	I1735F	probably damaging	Het
Neto1	A	T	18: 86,395,840		probably benign	Het
Nlrp9a	T	A	7: 26,558,733	L592Q	probably damaging	Het
Olfr1086	T	A	2: 86,677,013	T107S	probably benign	Het
Olfr390	C	A	11: 73,786,970	Q11K	probably benign	Het
Pcdhb20	T	A	18: 37,504,971	H183Q	probably benign	Het
Pde4b	A	G	4: 102,255,251	T11A	probably benign	Het
Ptcd3	A	G	6: 71,897,126	S234P	possibly damaging	Het
Rtn4	T	C	11: 29,708,471	V875A	probably benign	Het
Slc12a8	T	A	16: 33,646,577	C485S	probably benign	Het
Smc1b	A	G	15: 85,066,254	S1190P	probably damaging	Het
Sorbs2	A	G	8: 45,805,827	R1134G	probably benign	Het
Sugt1	T	C	14: 79,628,948	Y336H	probably damaging	Het
Tas2r134	A	T	2: 51,628,022	Y171F	probably damaging	Het
Tdrd6	A	T	17: 43,626,892	D1088E	probably benign	Het
Tgfbrap1	A	T	1: 43,056,752	W509R	probably damaging	Het
Tmem115	T	C	9: 107,534,543	V22A	possibly damaging	Het
Tmprss6	G	A	15: 78,444,102	H565Y	probably damaging	Het
Ubr4	A	G	4: 139,467,320	S1175G	unknown	Het
Uspl1	T	C	5: 149,214,539	S850P	probably benign	Het
Vmn2r11	C	A	5: 109,053,400	A413S	probably damaging	Het
Vmn2r19	T	G	6: 123,315,964	S322A	probably benign	Het
Zfp606	T	A	7: 12,494,008	C685*	probably null	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
R9056:Tmem260	UTSW	14	48480317	missense	probably benign
R9096:Tmem260	UTSW	14	48520346	missense	unknown

Predicted Primers

Posted On

2022-04-18