Mutagenetix > Incidental Mutations

Incidental Mutation 'R0078:Tmtc3'

19557

Institutional Source

Beutler Lab

Gene Symbol

Tmtc3

Ensembl Gene

ENSMUSG00000036676

Gene Name

transmembrane and tetratricopeptide repeat containing 3

Synonyms

B130008E12Rik, mSmile, 9130014E20Rik

MMRRC Submission

038365-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R0078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100443902-100487350 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100448961 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 604 (L604P)

Ref Sequence

ENSEMBL: ENSMUSP00000096921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058154] [ENSMUST00000099318]

Predicted Effect

probably damaging
Transcript: ENSMUST00000058154
AA Change: L604P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061470
Gene: ENSMUSG00000036676
AA Change: L604P

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	98	120	N/A	INTRINSIC
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	173	192	N/A	INTRINSIC
transmembrane domain	205	227	N/A	INTRINSIC
transmembrane domain	237	259	N/A	INTRINSIC
Pfam:DUF1736	263	336	5.4e-35	PFAM
transmembrane domain	353	375	N/A	INTRINSIC
transmembrane domain	382	399	N/A	INTRINSIC
TPR	451	484	8.23e-6	SMART
TPR	485	518	2.13e1	SMART
TPR	533	567	8.77e1	SMART
TPR	568	601	3.19e-3	SMART
TPR	602	635	1.06e-8	SMART
TPR	673	706	1.35e-1	SMART
TPR	707	740	1.44e1	SMART
TPR	741	775	1.51e1	SMART
TPR	776	809	9e1	SMART
low complexity region	867	880	N/A	INTRINSIC
low complexity region	891	902	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000099318
AA Change: L604P

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

SMART Domains

Protein: ENSMUSP00000096921
Gene: ENSMUSG00000036676
AA Change: L604P

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	98	120	N/A	INTRINSIC
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	173	192	N/A	INTRINSIC
transmembrane domain	205	227	N/A	INTRINSIC
transmembrane domain	237	259	N/A	INTRINSIC
Pfam:DUF1736	261	338	2.6e-33	PFAM
transmembrane domain	353	375	N/A	INTRINSIC
transmembrane domain	382	399	N/A	INTRINSIC
TPR	451	484	8.23e-6	SMART
TPR	485	518	2.13e1	SMART
TPR	533	567	8.77e1	SMART
TPR	568	601	3.19e-3	SMART
TPR	602	635	1.06e-8	SMART

Meta Mutation Damage Score

0.9037

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.2%

Validation Efficiency

81% (203/250)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired bronchial smooth muscle and alveolar myofibroblast development that leads to cyanosis and postnatal lethality in some mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	T	A	2: 148,785,825	*131K	probably null	Het
Abcb5	T	A	12: 118,927,394	Q456L	probably benign	Het
Abcf1	A	G	17: 35,958,062		probably benign	Het
Adamts7	A	T	9: 90,179,411	S357C	probably damaging	Het
Ankrd26	A	G	6: 118,535,069		probably benign	Het
Asb17	T	A	3: 153,844,664	V111E	probably damaging	Het
C1qtnf4	C	A	2: 90,889,549	N55K	probably damaging	Het
C77080	T	C	4: 129,227,723		probably null	Het
Cacng5	G	T	11: 107,877,433	D249E	probably benign	Het
Camkk2	C	A	5: 122,757,559		probably null	Het
Ccdc27	T	G	4: 154,035,738		probably benign	Het
Cngb1	T	A	8: 95,264,545		probably null	Het
Col7a1	A	G	9: 108,974,913		probably benign	Het
Corin	T	A	5: 72,454,473	D148V	possibly damaging	Het
Defb26	A	C	2: 152,508,068	D97E	possibly damaging	Het
Dgkb	A	G	12: 38,136,541	N237D	probably benign	Het
Dsp	A	G	13: 38,196,017	N1647S	probably benign	Het
Dtna	G	A	18: 23,621,442	A438T	probably damaging	Het
Erbb3	G	T	10: 128,583,441	F219L	probably damaging	Het
EU599041	G	A	7: 43,225,851		noncoding transcript	Het
Fat1	A	G	8: 44,953,299	N1029S	probably damaging	Het
Fat4	T	C	3: 38,888,931	S658P	probably benign	Het
Fgfr2	C	T	7: 130,201,075	D168N	possibly damaging	Het
Fstl5	T	A	3: 76,659,645		probably benign	Het
Glmn	C	T	5: 107,557,970	V451I	probably benign	Het
Gm8909	A	T	17: 36,165,461	S304T	possibly damaging	Het
Gm9938	T	A	19: 23,724,624		probably benign	Het
Gpat2	T	C	2: 127,428,249	S61P	probably damaging	Het
Gpr22	T	A	12: 31,711,641	M6L	probably benign	Het
Grm5	T	C	7: 88,074,977	L825P	probably damaging	Het
Gstz1	A	T	12: 87,159,703	I66F	probably benign	Het
H2-T22	A	G	17: 36,040,609	V243A	probably damaging	Het
Hivep1	C	T	13: 42,156,041	L586F	probably damaging	Het
Hmcn2	T	G	2: 31,388,344	L1686R	probably damaging	Het
Ice1	T	C	13: 70,603,348	R1540G	probably damaging	Het
Igha	T	A	12: 113,259,927		probably benign	Het
Kif3a	C	A	11: 53,578,985	T141K	probably benign	Het
Knl1	G	A	2: 119,069,892	M691I	probably benign	Het
L3mbtl1	T	C	2: 162,947,226	V13A	probably benign	Het
Lamc1	T	A	1: 153,229,190	N1282I	probably damaging	Het
Lemd2	G	T	17: 27,203,728	L231I	probably benign	Het
Lrrk2	G	A	15: 91,734,009	V904M	probably benign	Het
Lyzl6	C	T	11: 103,633,969	S103N	probably benign	Het
Macf1	T	A	4: 123,473,868	R2367W	probably damaging	Het
Mapk3	T	C	7: 126,759,805	Y54H	probably damaging	Het
Mlh3	A	T	12: 85,268,818	V198D	probably damaging	Het
Myocd	T	C	11: 65,187,464	S374G	possibly damaging	Het
Ngef	T	C	1: 87,540,665	E124G	probably benign	Het
Nr4a2	T	C	2: 57,112,228	Y8C	probably damaging	Het
Nynrin	T	A	14: 55,863,332	V193D	probably damaging	Het
Olfr1280	A	T	2: 111,315,904	I142F	probably benign	Het
Olfr1331	T	A	4: 118,869,227	S148T	probably benign	Het
Olfr1490	G	T	19: 13,654,815	V129F	probably benign	Het
Olfr215	A	G	6: 116,582,740	S69P	probably damaging	Het
Olfr59	A	T	11: 74,289,266	I207F	probably damaging	Het
Pcdh18	T	C	3: 49,756,344	Y174C	probably damaging	Het
Pcf11	T	C	7: 92,669,559	D21G	possibly damaging	Het
Pdia4	A	C	6: 47,798,410	F489V	possibly damaging	Het
Pitrm1	C	T	13: 6,575,032	P849S	probably damaging	Het
Plcz1	T	C	6: 139,989,784	Y644C	probably damaging	Het
Ppp5c	T	C	7: 17,027,725	E28G	probably benign	Het
Prkcb	A	G	7: 122,590,170	Y507C	probably damaging	Het
Rims2	A	G	15: 39,534,855	D1072G	probably benign	Het
Scarf1	A	G	11: 75,515,162		probably benign	Het
Scoc	T	A	8: 83,458,258		probably null	Het
Sh2d4a	A	T	8: 68,282,321	M31L	probably damaging	Het
Spta1	T	A	1: 174,207,032		probably benign	Het
Stard7	A	G	2: 127,292,207	Y270C	probably damaging	Het
Svs3b	T	C	2: 164,255,961	T147A	probably benign	Het
Trim30b	A	T	7: 104,365,895	N95K	probably benign	Het
Trpm8	C	A	1: 88,328,148		probably benign	Het
Tspan9	T	C	6: 127,966,485		probably null	Het
Tubgcp5	C	T	7: 55,818,895	R713C	probably damaging	Het
Tyro3	A	T	2: 119,817,006	Q872L	probably damaging	Het
Vmn1r204	G	A	13: 22,556,209	M3I	probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Wdfy3	A	G	5: 101,888,105	I2149T	possibly damaging	Het
Wdr66	G	A	5: 123,298,570	R1054H	probably benign	Het
Zfp668	A	T	7: 127,868,038	M122K	possibly damaging	Het
Zkscan1	A	T	5: 138,093,101	D32V	probably damaging	Het

Other mutations in Tmtc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Tmtc3	APN	10	100471480	missense	probably benign
IGL00962:Tmtc3	APN	10	100471953	missense	probably damaging	1.00
IGL01670:Tmtc3	APN	10	100447125	missense	probably benign	0.02
IGL01729:Tmtc3	APN	10	100447155	missense	probably benign
IGL01933:Tmtc3	APN	10	100447605	missense	probably benign	0.00
IGL01961:Tmtc3	APN	10	100447031	missense	probably benign
IGL03063:Tmtc3	APN	10	100447606	missense	probably benign	0.00
IGL03176:Tmtc3	APN	10	100466131	missense	possibly damaging	0.57
IGL03195:Tmtc3	APN	10	100459034	missense	probably benign	0.00
IGL03238:Tmtc3	APN	10	100477840	missense	probably damaging	1.00
IGL03272:Tmtc3	APN	10	100457080	missense	probably benign	0.00
IGL03335:Tmtc3	APN	10	100466254	missense	probably damaging	0.97
IGL03375:Tmtc3	APN	10	100447719	missense	possibly damaging	0.67
IGL03409:Tmtc3	APN	10	100451432	missense	possibly damaging	0.75
R0121:Tmtc3	UTSW	10	100458908	splice site	probably benign
R0234:Tmtc3	UTSW	10	100450322	missense	probably benign	0.44
R0234:Tmtc3	UTSW	10	100450322	missense	probably benign	0.44
R0480:Tmtc3	UTSW	10	100471404	missense	probably damaging	1.00
R1136:Tmtc3	UTSW	10	100472043	unclassified	probably benign
R1203:Tmtc3	UTSW	10	100476744	missense	probably damaging	1.00
R1253:Tmtc3	UTSW	10	100451390	missense	probably benign	0.05
R2181:Tmtc3	UTSW	10	100448973	missense	probably benign	0.00
R3011:Tmtc3	UTSW	10	100447582	missense	possibly damaging	0.76
R3430:Tmtc3	UTSW	10	100447575	missense	probably benign	0.29
R3910:Tmtc3	UTSW	10	100449026	missense	probably damaging	1.00
R3911:Tmtc3	UTSW	10	100449026	missense	probably damaging	1.00
R3912:Tmtc3	UTSW	10	100449026	missense	probably damaging	1.00
R4773:Tmtc3	UTSW	10	100457139	missense	possibly damaging	0.66
R4838:Tmtc3	UTSW	10	100466220	missense	probably damaging	1.00
R4996:Tmtc3	UTSW	10	100447224	missense	probably damaging	0.99
R5131:Tmtc3	UTSW	10	100448979	missense	probably damaging	1.00
R5976:Tmtc3	UTSW	10	100476672	missense	probably benign	0.00
R6700:Tmtc3	UTSW	10	100471477	missense	probably benign	0.00
R7187:Tmtc3	UTSW	10	100477912	missense	probably damaging	1.00
R7211:Tmtc3	UTSW	10	100447605	missense	probably benign	0.05
R7299:Tmtc3	UTSW	10	100447474	missense	not run
R7301:Tmtc3	UTSW	10	100447474	missense	not run
R7329:Tmtc3	UTSW	10	100447419	missense	probably benign	0.00
R7509:Tmtc3	UTSW	10	100466094	missense	probably damaging	1.00
R7614:Tmtc3	UTSW	10	100450352	nonsense	probably null
RF023:Tmtc3	UTSW	10	100477866	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCTCTTCATGTCACTTGAAAGGAC -3'
(R):5'- AAAGATTCATCCAGAGCAGCTTCCC -3'

Sequencing Primer
(F):5'- CATGTCACTTGAAAGGACTTTATGTC -3'
(R):5'- TAGTATCTGAAAGCACATGCAGC -3'

Posted On

2013-04-11