Mutagenetix > Incidental Mutation

Incidental Mutation 'R7685:Tmc3'

593004

Institutional Source

Beutler Lab

Gene Symbol

Tmc3

Ensembl Gene

ENSMUSG00000038540

Gene Name

transmembrane channel-like gene family 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7685 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83584927-83625614 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83597458 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 136 (S136P)

Ref Sequence

ENSEMBL: ENSMUSP00000046028 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039317
AA Change: S136P

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

SMART Domains

Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: S136P

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

probably damaging
Transcript: ENSMUST00000164944
AA Change: S136P

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

SMART Domains

Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: S136P

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

Coding Region Coverage

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

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029I15Rik	C	A	2: 92,383,472	P68Q	probably damaging	Het
Abcg3	A	G	5: 104,968,215	L251S	probably damaging	Het
Acsbg1	C	T	9: 54,628,559	S53N	unknown	Het
Adamts18	A	G	8: 113,713,223	C913R	probably damaging	Het
Adck5	C	A	15: 76,595,388	Y524*	probably null	Het
Adgrv1	G	T	13: 81,103,324	Q6225K	possibly damaging	Het
Ahr	T	C	12: 35,504,017	N701S	probably damaging	Het
Apc	T	C	18: 34,314,208	C1386R	probably damaging	Het
Bbs1	A	G	19: 4,906,154	S38P	probably benign	Het
Celsr1	G	T	15: 85,978,732	C1366*	probably null	Het
Cep290	A	C	10: 100,540,057	H1424P	probably benign	Het
Clcn3	C	T	8: 60,933,085	R311K	possibly damaging	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Dhx9	A	G	1: 153,458,406	Y1002H	probably damaging	Het
Dnah8	C	T	17: 30,657,973	T533I	probably damaging	Het
Ermard	T	C	17: 15,059,462	S505P	probably benign	Het
Fbxw17	G	A	13: 50,425,644	D166N	probably damaging	Het
Fmo3	T	C	1: 162,958,332	K363R	possibly damaging	Het
Gadd45gip1	A	T	8: 84,832,351	R21W	probably damaging	Het
Galnt4	A	G	10: 99,109,964	N517S	probably benign	Het
Ganc	T	A	2: 120,433,792	W409R	probably damaging	Het
Glrx3	T	C	7: 137,459,191	S185P	probably damaging	Het
Gm49368	T	C	7: 128,113,242	S853P	probably damaging	Het
Gtf3c2	A	C	5: 31,168,267	L443V	probably damaging	Het
Gxylt2	A	T	6: 100,804,528	Q388L	probably benign	Het
Hcar2	C	T	5: 123,865,333	V36M	possibly damaging	Het
Ifit3b	A	T	19: 34,612,555	D377V	possibly damaging	Het
Ints5	A	G	19: 8,896,804	D709G	probably benign	Het
Lyst	A	G	13: 13,669,865	E1880G	probably benign	Het
Mep1a	C	T	17: 43,479,174	S428N	probably benign	Het
Mllt6	T	C	11: 97,676,964	L739P	probably damaging	Het
Mlst8	T	C	17: 24,476,057	Y284C	probably damaging	Het
Mmel1	T	C	4: 154,871,654	M1T	probably null	Het
Muc5ac	C	T	7: 141,809,383	P2144S	unknown	Het
Myh4	T	C	11: 67,240,930	V72A	probably benign	Het
Naa15	T	A	3: 51,469,974		probably null	Het
Nlrc5	A	G	8: 94,521,400		probably null	Het
Nme8	T	A	13: 19,650,975	M514L	probably benign	Het
Nudt9	C	A	5: 104,047,080	S14*	probably null	Het
Olfr538	T	C	7: 140,574,246	F31S	probably damaging	Het
Olfr748	A	T	14: 50,710,758	I143F	possibly damaging	Het
Optn	G	A	2: 5,054,650	T19I	probably benign	Het
Osbpl8	T	A	10: 111,276,509	L495*	probably null	Het
Panx2	T	C	15: 89,067,770	S147P	possibly damaging	Het
Pclo	T	A	5: 14,680,616	V3044D	unknown	Het
Pcnt	T	C	10: 76,422,808	K608E	probably benign	Het
Pde7a	T	A	3: 19,227,745	N447I	probably damaging	Het
Peli2	G	T	14: 48,280,034	C186F	not run	Het
Pgm5	A	G	19: 24,727,851	F433L	probably benign	Het
Plce1	G	A	19: 38,748,433	V1588I	probably benign	Het
Plin4	T	A	17: 56,102,413	H1295L	probably benign	Het
Poli	T	C	18: 70,525,519	E134G	probably benign	Het
Pramef6	T	A	4: 143,897,801	D42V	probably benign	Het
Ptprq	T	A	10: 107,643,978	I1144F	probably damaging	Het
Ptprz1	A	T	6: 23,024,978	T1738S	probably damaging	Het
Pxdc1	A	G	13: 34,652,284	L51P	probably damaging	Het
Rabepk	C	T	2: 34,779,296	G362S	probably damaging	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rhd	T	A	4: 134,884,509		probably null	Het
Rpp14	T	C	14: 8,090,453	S126P	probably damaging	Het
Scn7a	C	T	2: 66,676,192	C1451Y	probably damaging	Het
Sdr39u1	G	A	14: 55,897,734	R251*	probably null	Het
Sephs2	G	T	7: 127,273,334	P196T	possibly damaging	Het
Slc22a16	T	C	10: 40,574,089	Y195H	possibly damaging	Het
Spg11	C	A	2: 122,068,880	V1575F	probably damaging	Het
Sqle	C	T	15: 59,316,041	S66L	probably benign	Het
Tas2r124	T	G	6: 132,755,093	W122G	probably damaging	Het
Tex52	A	T	6: 128,384,958		probably null	Het
Thoc1	T	A	18: 9,993,454	C604*	probably null	Het
Tmem212	T	A	3: 27,896,313	T11S	probably benign	Het
Ubn2	A	G	6: 38,491,792	N1147S	probably benign	Het
Uggt2	A	G	14: 119,075,347	I350T	probably damaging	Het
Ust	A	T	10: 8,207,575	Y346N	probably damaging	Het
Vwa8	A	G	14: 79,098,300	T1399A	probably benign	Het
Zc3h18	G	A	8: 122,413,876	R850Q	unknown	Het
Zfp800	C	A	6: 28,244,194	K257N	probably damaging	Het
Zfp985	T	A	4: 147,582,874	D66E	probably benign	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
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
V7581:Tmc3	UTSW	7	83622505	missense	probably benign	0.01
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'- TCAAATGGGTACAGCACTGGG -3'
(R):5'- AGGGCAGCAGGTTATAGCAC -3'

Sequencing Primer
(F):5'- TCAGTGTTTGAGTCAACCAGAGC -3'
(R):5'- AGGTTATAGCACCTGCCTCTC -3'

Posted On

2019-11-12