Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02863:Tmc3'

362245

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmc3

Ensembl Gene

ENSMUSG00000038540

Gene Name

transmembrane channel-like gene family 3

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02863

Quality Score

Status

Chromosome

Chromosomal Location

83584927-83625614 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83622285 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 882 (S882C)

Ref Sequence

ENSEMBL: ENSMUSP00000130348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039317] [ENSMUST00000164944]

Predicted Effect

probably benign
Transcript: ENSMUST00000039317
AA Change: S911C

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: S911C

Domain	Start	End	E-Value	Type
transmembrane domain	143	165	N/A	INTRINSIC
transmembrane domain	195	214	N/A	INTRINSIC
transmembrane domain	227	246	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
transmembrane domain	362	381	N/A	INTRINSIC
transmembrane domain	396	415	N/A	INTRINSIC
Pfam:TMC	500	615	5e-42	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	679	701	N/A	INTRINSIC
low complexity region	1071	1089	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163297

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164944
AA Change: S882C

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: S882C

Domain	Start	End	E-Value	Type
transmembrane domain	143	165	N/A	INTRINSIC
transmembrane domain	195	214	N/A	INTRINSIC
transmembrane domain	227	246	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
transmembrane domain	362	381	N/A	INTRINSIC
transmembrane domain	396	415	N/A	INTRINSIC
Pfam:TMC	500	615	1.1e-45	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	679	701	N/A	INTRINSIC
low complexity region	1042	1060	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208892

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932429P05Rik	C	T	X: 89,752,823	P87L	possibly damaging	Het
9130011E15Rik	T	A	19: 45,958,411	N256Y	probably damaging	Het
9330182L06Rik	C	A	5: 9,461,399	C920*	probably null	Het
Abcb11	T	A	2: 69,284,682	H640L	probably damaging	Het
Akr1c19	T	A	13: 4,237,113	Y110*	probably null	Het
Alk	T	A	17: 71,897,835	E1114V	probably damaging	Het
Anln	A	T	9: 22,376,365	D213E	probably damaging	Het
Ano9	T	C	7: 141,108,651	N164S	probably benign	Het
Arhgef9	G	A	X: 95,077,504	R266C	probably damaging	Het
Arnt2	C	T	7: 84,267,937	R483H	probably damaging	Het
Asxl3	A	T	18: 22,523,484	N1517I	probably benign	Het
Baiap3	C	T	17: 25,244,502		probably benign	Het
Capn12	T	A	7: 28,883,156	V152E	probably damaging	Het
Casq2	A	G	3: 102,144,175	T324A	possibly damaging	Het
Cmtm7	T	C	9: 114,763,389	T47A	probably benign	Het
Csmd2	A	G	4: 128,521,884	S2669G	probably benign	Het
Dnah1	C	T	14: 31,295,293	R1520H	probably damaging	Het
Dnah8	T	C	17: 30,769,697	C3214R	probably damaging	Het
Fbn1	A	T	2: 125,303,256	C2688S	possibly damaging	Het
Fgf13	A	G	X: 59,063,669	V201A	probably damaging	Het
Ghr	A	T	15: 3,328,102	L228*	probably null	Het
Gpr22	A	G	12: 31,710,007	C39R	probably benign	Het
Hk1	T	C	10: 62,295,755	T274A	possibly damaging	Het
Il18r1	T	A	1: 40,487,007	L238M	probably damaging	Het
Lama1	G	A	17: 67,804,536	G2261R	probably damaging	Het
Map3k21	A	T	8: 125,927,541	E366D	probably benign	Het
Mgat4e	C	T	1: 134,541,158	E383K	probably benign	Het
Mrc2	G	A	11: 105,333,620		probably benign	Het
Myh13	T	A	11: 67,332,541	L229Q	probably damaging	Het
Myo15	T	A	11: 60,478,127	L571Q	probably damaging	Het
Ncoa1	T	A	12: 4,297,513	M354L	probably benign	Het
Nomo1	T	C	7: 46,046,916	F286S	probably damaging	Het
Ocstamp	A	G	2: 165,397,508	F253L	probably damaging	Het
Olfr1062	A	G	2: 86,423,113	S188P	probably benign	Het
Olfr1331	T	G	4: 118,868,886	I34S	possibly damaging	Het
Osbpl8	T	C	10: 111,284,425		probably benign	Het
Parp4	T	C	14: 56,648,786	L1774P	unknown	Het
Paxip1	T	C	5: 27,759,395	S729G	probably benign	Het
Phlpp1	T	A	1: 106,376,297		probably null	Het
Pkd1	G	A	17: 24,569,752	G828D	possibly damaging	Het
Raver1	A	G	9: 21,075,971	L670P	probably damaging	Het
Rhd	A	G	4: 134,885,310	I291V	probably damaging	Het
Rorb	C	T	19: 18,952,253	E377K	probably benign	Het
Slc1a5	T	C	7: 16,793,721	I314T	probably benign	Het
Synj1	T	C	16: 90,961,434	T841A	possibly damaging	Het
Tenm4	T	A	7: 96,873,706	L1448H	probably damaging	Het
Tmem168	T	C	6: 13,582,918	N271D	probably damaging	Het
Uck1	G	A	2: 32,258,322	R161C	probably benign	Het
Usp13	A	G	3: 32,918,947	I759V	possibly damaging	Het
Vmn1r202	G	A	13: 22,501,470	T259I	probably benign	Het
Vmn2r115	G	T	17: 23,359,283	V577F	probably damaging	Het

Other mutations in Tmc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Tmc3	APN	7	83603474	missense	probably null	1.00
IGL01372:Tmc3	APN	7	83612538	missense	probably damaging	1.00
IGL02072:Tmc3	APN	7	83615940	missense	probably benign	0.00
IGL02168:Tmc3	APN	7	83619995	missense	possibly damaging	0.87
IGL02344:Tmc3	APN	7	83609094	missense	probably benign	0.00
IGL02421:Tmc3	APN	7	83622744	missense	probably benign
IGL02604:Tmc3	APN	7	83622619	missense	possibly damaging	0.85
IGL02863:Tmc3	APN	7	83622286	missense	probably benign	0.04
IGL03058:Tmc3	APN	7	83615886	missense	possibly damaging	0.91
IGL03303:Tmc3	APN	7	83590725	splice site	probably benign
F5770:Tmc3	UTSW	7	83622505	missense	probably benign	0.01
R0133:Tmc3	UTSW	7	83612473	missense	probably damaging	1.00
R0147:Tmc3	UTSW	7	83607742	missense	probably damaging	1.00
R0304:Tmc3	UTSW	7	83596139	missense	probably damaging	1.00
R0320:Tmc3	UTSW	7	83607819	splice site	probably benign
R0478:Tmc3	UTSW	7	83622152	missense	possibly damaging	0.66
R0714:Tmc3	UTSW	7	83616761	missense	possibly damaging	0.94
R1471:Tmc3	UTSW	7	83598290	missense	probably damaging	1.00
R1725:Tmc3	UTSW	7	83604732	missense	probably damaging	1.00
R1775:Tmc3	UTSW	7	83612532	missense	probably benign	0.39
R2176:Tmc3	UTSW	7	83609308	missense	probably damaging	1.00
R4001:Tmc3	UTSW	7	83620063	missense	probably benign	0.01
R4229:Tmc3	UTSW	7	83597402	intron	probably benign
R4635:Tmc3	UTSW	7	83585082	unclassified	probably benign
R4715:Tmc3	UTSW	7	83622396	missense	probably benign	0.05
R4789:Tmc3	UTSW	7	83622538	missense	probably damaging	0.99
R4998:Tmc3	UTSW	7	83622321	missense	probably benign	0.16
R5044:Tmc3	UTSW	7	83609118	missense	probably benign	0.00
R5108:Tmc3	UTSW	7	83619948	missense	probably damaging	0.97
R5119:Tmc3	UTSW	7	83615010	missense	probably damaging	1.00
R5428:Tmc3	UTSW	7	83612547	missense	probably damaging	1.00
R5447:Tmc3	UTSW	7	83622361	missense	possibly damaging	0.63
R5767:Tmc3	UTSW	7	83599982	missense	probably benign	0.43
R5801:Tmc3	UTSW	7	83622478	missense	possibly damaging	0.94
R6115:Tmc3	UTSW	7	83614962	missense	possibly damaging	0.47
R6193:Tmc3	UTSW	7	83603335	missense	probably benign	0.26
R6436:Tmc3	UTSW	7	83598487	missense	probably damaging	1.00
R6478:Tmc3	UTSW	7	83622316	missense	probably benign	0.31
R6648:Tmc3	UTSW	7	83597543	missense	probably damaging	1.00
R6849:Tmc3	UTSW	7	83586357	missense	probably damaging	1.00
R7030:Tmc3	UTSW	7	83616817	splice site	probably null
R7085:Tmc3	UTSW	7	83622145	missense	possibly damaging	0.88
R7574:Tmc3	UTSW	7	83598273	missense	probably damaging	0.99
R7685:Tmc3	UTSW	7	83597458	missense	probably damaging	1.00
V7581:Tmc3	UTSW	7	83622505	missense	probably benign	0.01
Z1088:Tmc3	UTSW	7	83603468	missense	probably damaging	1.00

Posted On

2015-12-18