Mutagenetix > Incidental Mutations

Incidental Mutation 'R1263:Tmc5'

151661

Institutional Source

Beutler Lab

Gene Symbol

Tmc5

Ensembl Gene

ENSMUSG00000030650

Gene Name

transmembrane channel-like gene family 5

Synonyms

4932443L08Rik

MMRRC Submission

039330-MU

Accession Numbers

Genbank: NM_001105252.1, NM_028930.3

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118597297-118675086 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118666870 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 789 (R789Q)

Ref Sequence

ENSEMBL: ENSMUSP00000114137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057320] [ENSMUST00000098088] [ENSMUST00000121715] [ENSMUST00000121744]

Predicted Effect

probably damaging
Transcript: ENSMUST00000057320
AA Change: R579Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049784
Gene: ENSMUSG00000030650
AA Change: R579Q

Domain	Start	End	E-Value	Type
transmembrane domain	203	225	N/A	INTRINSIC
transmembrane domain	238	260	N/A	INTRINSIC
transmembrane domain	275	297	N/A	INTRINSIC
transmembrane domain	371	393	N/A	INTRINSIC
transmembrane domain	408	430	N/A	INTRINSIC
transmembrane domain	451	473	N/A	INTRINSIC
Pfam:TMC	476	581	8.1e-44	PFAM
transmembrane domain	586	608	N/A	INTRINSIC
transmembrane domain	652	674	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098088
AA Change: R789Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095694
Gene: ENSMUSG00000030650
AA Change: R789Q

Domain	Start	End	E-Value	Type
internal_repeat_1	7	105	2.08e-10	PROSPERO
internal_repeat_2	10	108	2.75e-10	PROSPERO
internal_repeat_2	127	234	2.75e-10	PROSPERO
internal_repeat_1	152	266	2.08e-10	PROSPERO
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC
transmembrane domain	485	507	N/A	INTRINSIC
transmembrane domain	581	603	N/A	INTRINSIC
transmembrane domain	618	640	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
Pfam:TMC	686	791	1.2e-42	PFAM
transmembrane domain	796	818	N/A	INTRINSIC
transmembrane domain	862	884	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121715
AA Change: R789Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112434
Gene: ENSMUSG00000030650
AA Change: R789Q

Domain	Start	End	E-Value	Type
internal_repeat_1	7	105	2.08e-10	PROSPERO
internal_repeat_2	10	108	2.75e-10	PROSPERO
internal_repeat_2	127	234	2.75e-10	PROSPERO
internal_repeat_1	152	266	2.08e-10	PROSPERO
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC
transmembrane domain	485	507	N/A	INTRINSIC
transmembrane domain	581	603	N/A	INTRINSIC
transmembrane domain	618	640	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
Pfam:TMC	686	791	1.1e-43	PFAM
transmembrane domain	796	818	N/A	INTRINSIC
transmembrane domain	862	884	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121744
AA Change: R789Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114137
Gene: ENSMUSG00000030650
AA Change: R789Q

Domain	Start	End	E-Value	Type
internal_repeat_1	7	105	2.08e-10	PROSPERO
internal_repeat_2	10	108	2.75e-10	PROSPERO
internal_repeat_2	127	234	2.75e-10	PROSPERO
internal_repeat_1	152	266	2.08e-10	PROSPERO
transmembrane domain	413	435	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC
transmembrane domain	485	507	N/A	INTRINSIC
transmembrane domain	581	603	N/A	INTRINSIC
transmembrane domain	618	640	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
Pfam:TMC	686	791	1.1e-43	PFAM
transmembrane domain	796	818	N/A	INTRINSIC
transmembrane domain	862	884	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,620,278	Y207*	probably null	Het
Abca8b	A	C	11: 109,941,607	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 103,103,851		probably null	Het
Atp13a4	T	A	16: 29,471,953	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,462,522	F132C	probably damaging	Het
Btaf1	A	T	19: 36,956,524	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887	E351G	possibly damaging	Het
Ccdc185	A	T	1: 182,747,353	Y590*	probably null	Het
Chil1	G	A	1: 134,189,242	E315K	probably benign	Het
Col6a6	T	A	9: 105,709,489	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,104,711	Y355S	probably damaging	Het
Cyp4a31	A	G	4: 115,574,711	T396A	probably benign	Het
Dnah6	A	T	6: 73,144,965	I1373N	probably damaging	Het
Dopey2	C	A	16: 93,777,386	H1598N	probably benign	Het
Erich4	T	A	7: 25,615,134	K118M	probably damaging	Het
Gkap1	A	T	13: 58,255,773	V179E	probably benign	Het
Gpr107	T	G	2: 31,178,255	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,758,530	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,479,378	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,676,966	H266Q	probably benign	Het
Krt71	C	T	15: 101,735,466	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,682,968	T423A	probably benign	Het
Mical3	T	C	6: 120,952,469	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 71,097,122	I1174T	probably benign	Het
Npas2	C	A	1: 39,334,768	Q450K	possibly damaging	Het
Nrp1	T	A	8: 128,468,389	I442N	probably damaging	Het
Olfr1385	A	T	11: 49,495,021	M163L	probably benign	Het
Olfr338	T	A	2: 36,376,994	S73T	probably damaging	Het
Palld	TGCGTAGCG	TGCG	8: 61,513,457		probably null	Het
Pih1d3	A	T	1: 31,223,215	I93F	probably damaging	Het
Pold3	T	A	7: 100,119,683	Q36L	possibly damaging	Het
Polg	T	C	7: 79,459,786	T428A	probably benign	Het
Rfx7	T	A	9: 72,577,047	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,112,149	M1R	probably null	Het
Scn10a	T	A	9: 119,617,733	T1410S	probably damaging	Het
Serpinb13	T	A	1: 107,000,736	V362E	probably damaging	Het
Setdb1	T	C	3: 95,327,611	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,320,638	K91R	probably benign	Het
Shprh	A	G	10: 11,159,530	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Styxl1	G	T	5: 135,753,883	S117R	probably damaging	Het
Synj2	T	C	17: 6,019,359	F150L	probably damaging	Het
Tep1	C	A	14: 50,845,513	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,630,655	L413Q	probably damaging	Het
Tonsl	T	A	15: 76,622,562	I115F	possibly damaging	Het
Trim38	A	G	13: 23,791,134	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,207,321	V44D	probably benign	Het
Vars2	A	G	17: 35,661,609	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,208,322	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,050,708	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,581,606	Y762C	probably benign	Het
Vps13d	T	A	4: 145,170,348	Q334L	probably benign	Het
Zfp277	A	T	12: 40,364,165	I227N	probably damaging	Het

Other mutations in Tmc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Tmc5	APN	7	118656787	missense	probably damaging	1.00
IGL01601:Tmc5	APN	7	118623824	unclassified	probably benign
IGL01633:Tmc5	APN	7	118623586	missense	probably damaging	0.97
IGL01845:Tmc5	APN	7	118652510	missense	possibly damaging	0.93
IGL02148:Tmc5	APN	7	118645324	missense	probably damaging	0.97
IGL02638:Tmc5	APN	7	118627233	missense	probably benign	0.36
IGL02890:Tmc5	APN	7	118645430	splice site	probably benign
F5426:Tmc5	UTSW	7	118623323	missense	probably benign
PIT4802001:Tmc5	UTSW	7	118672226	missense	probably benign
R0068:Tmc5	UTSW	7	118634237	missense	probably benign	0.44
R0470:Tmc5	UTSW	7	118639931	missense	possibly damaging	0.68
R0520:Tmc5	UTSW	7	118666576	missense	probably damaging	1.00
R0786:Tmc5	UTSW	7	118627210	missense	possibly damaging	0.94
R1269:Tmc5	UTSW	7	118666593	missense	probably benign	0.30
R1486:Tmc5	UTSW	7	118673432	missense	probably benign	0.02
R1702:Tmc5	UTSW	7	118672239	missense	probably benign	0.00
R2188:Tmc5	UTSW	7	118654955	missense	probably damaging	1.00
R3508:Tmc5	UTSW	7	118645395	missense	probably benign	0.01
R3893:Tmc5	UTSW	7	118645369	missense	probably damaging	1.00
R3927:Tmc5	UTSW	7	118652655	nonsense	probably null
R4171:Tmc5	UTSW	7	118649587	missense	probably damaging	0.99
R4279:Tmc5	UTSW	7	118674663	makesense	probably null
R4554:Tmc5	UTSW	7	118670733	missense	probably benign	0.16
R4555:Tmc5	UTSW	7	118670733	missense	probably benign	0.16
R4557:Tmc5	UTSW	7	118670733	missense	probably benign	0.16
R4833:Tmc5	UTSW	7	118628829	missense	probably benign	0.11
R4845:Tmc5	UTSW	7	118642381	missense	probably damaging	1.00
R4852:Tmc5	UTSW	7	118645339	missense	probably benign	0.32
R5087:Tmc5	UTSW	7	118645386	missense	possibly damaging	0.68
R5214:Tmc5	UTSW	7	118647932	missense	probably damaging	1.00
R5723:Tmc5	UTSW	7	118672193	missense	probably damaging	1.00
R5739:Tmc5	UTSW	7	118666611	critical splice donor site	probably null
R5882:Tmc5	UTSW	7	118654919	missense	probably damaging	0.99
R5946:Tmc5	UTSW	7	118670725	missense	probably damaging	1.00
R6244:Tmc5	UTSW	7	118634214	missense	possibly damaging	0.93
R6360:Tmc5	UTSW	7	118633966	start codon destroyed	probably null	1.00
R6375:Tmc5	UTSW	7	118656814	missense	probably damaging	1.00
R6458:Tmc5	UTSW	7	118645316	missense	probably damaging	1.00
R6566:Tmc5	UTSW	7	118647844	missense	probably damaging	1.00
R6681:Tmc5	UTSW	7	118669304	missense	probably damaging	1.00
R7202:Tmc5	UTSW	7	118639956	missense	possibly damaging	0.49
R7227:Tmc5	UTSW	7	118670666	missense	possibly damaging	0.81
R7410:Tmc5	UTSW	7	118623597	nonsense	probably null
R7562:Tmc5	UTSW	7	118623326	missense	probably benign	0.10
R7808:Tmc5	UTSW	7	118669217	missense	probably damaging	1.00
Z1177:Tmc5	UTSW	7	118623756	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-29