Mutagenetix > Incidental Mutations

Incidental Mutation 'R8795:Tmem260'

671220

Institutional Source

Beutler Lab

Gene Symbol

Tmem260

Ensembl Gene

ENSMUSG00000036339

Gene Name

transmembrane protein 260

Synonyms

6720456H20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8795 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48446124-48524246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48451913 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 63 (H63R)

Ref Sequence

ENSEMBL: ENSMUSP00000107364 (fasta)

Gene Model

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

AlphaFold

Q8BMD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000111735
AA Change: H63R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: H63R

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

probably damaging
Transcript: ENSMUST00000153765
AA Change: H63R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116155
Gene: ENSMUSG00000036339
AA Change: H63R

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: ENSMUST00000226400

Predicted Effect

probably damaging
Transcript: ENSMUST00000226422
AA Change: H63R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227440
AA Change: H63R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9365

Coding Region Coverage

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

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,507,672	M128L	probably damaging	Het
Abcc12	A	G	8: 86,531,584	S768P	possibly damaging	Het
Adamts8	A	T	9: 30,943,188	M118L	probably benign	Het
Adgrl4	A	G	3: 151,510,779	N533S	probably benign	Het
Agk	T	G	6: 40,386,920	I278R	possibly damaging	Het
Atr	T	A	9: 95,867,531	W466R	probably damaging	Het
Cacna1h	C	T	17: 25,393,564	V387I	probably damaging	Het
Cand2	T	G	6: 115,786,928	D270E	probably benign	Het
Ccdc107	C	T	4: 43,495,514	T139M	probably damaging	Het
Cenpl	A	G	1: 161,083,014	E177G	probably benign	Het
Clint1	C	A	11: 45,884,351	Q56K	probably damaging	Het
Col9a1	A	G	1: 24,194,731	R249G	unknown	Het
Cpne5	C	T	17: 29,204,688		probably benign	Het
Ddx27	A	G	2: 167,017,810	D54G	probably benign	Het
Dync2h1	C	T	9: 7,137,087	E1468K	probably benign	Het
E130308A19Rik	A	T	4: 59,737,676	N429I	possibly damaging	Het
Endov	G	T	11: 119,499,554	G86C	possibly damaging	Het
Ercc5	A	T	1: 44,163,929	Y242F	possibly damaging	Het
Gabrr1	T	A	4: 33,161,756	V360E	probably damaging	Het
Gcn1l1	T	C	5: 115,614,395	I2153T	probably benign	Het
Gje1	T	C	10: 14,718,126	N8S	probably benign	Het
Gm12394	A	G	4: 42,792,992	V380A	probably benign	Het
Greb1l	A	G	18: 10,553,739	H1580R	probably damaging	Het
Grin1	C	G	2: 25,297,456	S614T	probably damaging	Het
Hmcn2	A	G	2: 31,425,381	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Ifitm2	A	T	7: 140,955,748	H56Q	probably damaging	Het
Ifrd1	G	A	12: 40,213,077	T218I	possibly damaging	Het
Igkv1-99	G	T	6: 68,542,386	G109V		Het
Impg2	A	G	16: 56,260,248	E805G	probably benign	Het
Itgb6	T	A	2: 60,653,285	N260Y	probably damaging	Het
Maneal	G	T	4: 124,856,690	Y424*	probably null	Het
Map4k2	T	G	19: 6,351,610	C677W	probably damaging	Het
Med6	T	C	12: 81,591,260	H59R	probably benign	Het
Mms22l	T	A	4: 24,536,245	D571E	probably benign	Het
Mroh8	A	G	2: 157,225,573	F622S	probably damaging	Het
Mrpl44	A	T	1: 79,776,257	Q42L	probably damaging	Het
Myh8	G	T	11: 67,283,377		probably benign	Het
Ndufb2	T	C	6: 39,592,652	V13A	probably benign	Het
Nf1	T	A	11: 79,425,616	L499Q	probably damaging	Het
Olfr1185-ps1	T	G	2: 88,499,511	V142G	probably damaging	Het
Olfr1281	T	A	2: 111,328,536	L39*	probably null	Het
Olfr1357	T	C	10: 78,611,864	Y259C	probably damaging	Het
Olfr782	T	C	10: 129,351,325	I254T	probably damaging	Het
Opa1	T	C	16: 29,629,632	C874R	probably damaging	Het
Pld3	T	A	7: 27,535,861	D314V	possibly damaging	Het
Pou6f1	A	C	15: 100,587,805	C114W	possibly damaging	Het
Pqlc3	A	G	12: 16,993,480	W150R	probably damaging	Het
Prl2c1	A	C	13: 27,849,406	Q2P	possibly damaging	Het
Prl2c1	G	T	13: 27,849,407	Q2H	probably benign	Het
Pzp	C	A	6: 128,494,738	K908N	probably damaging	Het
Rab6b	G	A	9: 103,162,626	G125D	probably damaging	Het
Rhbdd2	C	T	5: 135,635,131	T69I	probably benign	Het
Samd9l	A	T	6: 3,374,221	Y1013*	probably null	Het
Slc13a4	T	A	6: 35,283,295	T217S	probably benign	Het
Smarcad1	T	C	6: 65,072,049	L253S	probably benign	Het
Snrpa	C	A	7: 27,191,609	V146L	possibly damaging	Het
Srrt	A	T	5: 137,299,976	D311E	probably benign	Het
Stk32b	A	T	5: 37,649,139	F20L	probably damaging	Het
Sult2a7	T	C	7: 14,490,089	T136A	probably benign	Het
Sv2a	G	A	3: 96,187,080	V244I	probably benign	Het
Tesk1	T	A	4: 43,446,070		probably null	Het
Ugt1a6b	A	G	1: 88,107,072	E44G	probably benign	Het
Unc79	A	T	12: 103,108,254	I1363F	probably damaging	Het
Usp15	T	A	10: 123,153,048	N255Y	probably benign	Het
Usp35	A	G	7: 97,311,960	V753A	possibly damaging	Het
Usp35	T	C	7: 97,312,063	N719D	probably benign	Het
Vmn2r104	T	A	17: 20,042,726	I158L	probably benign	Het
Vmn2r69	A	T	7: 85,415,675	M1K	probably null	Het
Zan	C	T	5: 137,398,260	E4345K	unknown	Het
Zc3h7a	A	T	16: 11,147,283	M662K	possibly damaging	Het
Zfp512	G	A	5: 31,476,790	V438M	probably damaging	Het
Zfy1	T	C	Y: 738,945	D87G	unknown	Het
Zmym4	A	T	4: 126,906,026	V653E	probably benign	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
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'- TAGGATATACAGGCCAGGTCCC -3'
(R):5'- AACCCGCAACGCTTAATTTC -3'

Sequencing Primer
(F):5'- CATTTAGGCATCCCCACA -3'
(R):5'- CGCAACGCTTAATTTCTCAAAG -3'

Posted On

2021-04-30