Mutagenetix > Incidental Mutations

Incidental Mutation 'V7581:Tmc3'

152554

Institutional Source

Beutler Lab

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 #

V7581 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83584927-83625614 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83622505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 955 (V955A)

Ref Sequence

ENSEMBL: ENSMUSP00000130348 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039317
AA Change: V984A

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

SMART Domains

Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: V984A

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

probably benign
Transcript: ENSMUST00000164944
AA Change: V955A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: V955A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,701,257	H102L	possibly damaging	Het
Abcb10	GGCCATCG	GG	8: 123,969,761		probably benign	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Clasp1	G	A	1: 118,581,348	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dnah12	T	A	14: 26,773,093	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,897,126	Q295*	probably null	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Fcgr1	T	C	3: 96,284,276	*405W	probably null	Het
Glrx3	A	G	7: 137,459,153	H172R	probably benign	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Gm4787	G	A	12: 81,377,567	Q606*	probably null	Het
Hira	G	A	16: 18,894,821	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,602,624	N252K	probably benign	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Klc1	A	T	12: 111,774,572	I161F	probably benign	Het
Lpar5	C	A	6: 125,081,727	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Muc6	T	G	7: 141,647,613	E808A	probably benign	Het
Olfr1406	G	T	1: 173,183,964	L157I	probably benign	Het
Olfr480	G	T	7: 108,066,678	T40K	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Papln	C	T	12: 83,778,834	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Ppwd1	A	G	13: 104,220,237	Y257H	probably damaging	Het
Prkcb	G	T	7: 122,528,476	W274C	probably damaging	Het
Rbbp8nl	T	A	2: 180,278,208	T558S	probably benign	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Slc5a6	C	T	5: 31,042,613		probably null	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Toe1	A	T	4: 116,806,111	N56K	probably damaging	Het
Tprkb	A	G	6: 85,928,782	K150E	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Vmn2r68	C	T	7: 85,221,880	V732I	probably benign	Het
Wdr60	A	C	12: 116,211,840	S906A	possibly damaging	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,826,470	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	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
IGL02863:Tmc3	APN	7	83622285	missense	possibly damaging	0.61
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
R7888:Tmc3	UTSW	7	83600009	missense	probably damaging	1.00
R8474:Tmc3	UTSW	7	83609914	missense	probably damaging	1.00
R8961:Tmc3	UTSW	7	83607762	missense	probably damaging	1.00
R9286:Tmc3	UTSW	7	83603435	missense	probably damaging	0.96
Z1088:Tmc3	UTSW	7	83603468	missense	probably damaging	1.00
Z1188:Tmc3	UTSW	7	83612478	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTGATGACACATGACCACAGTCC -3'
(R):5'- GGCCTCTCAAGCTGGTCTTCAAAAC -3'

Sequencing Primer
(F):5'- CGTGCTCCCAGGTACTATGTG -3'
(R):5'- GGTCTTCAAAACTATTATCCCCAG -3'

Posted On

2014-01-29