Mutagenetix > Incidental Mutation

Incidental Mutation 'R7329:Tmtc3'

569131

Institutional Source

Beutler Lab

Gene Symbol

Tmtc3

Ensembl Gene

ENSMUSG00000036676

Gene Name

transmembrane and tetratricopeptide repeat containing 3

Synonyms

B130008E12Rik, mSmile, 9130014E20Rik

MMRRC Submission

045422-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.855) question?

Stock #

R7329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100279764-100323212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100283281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 758 (I758T)

Ref Sequence

ENSEMBL: ENSMUSP00000061470 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000058154
AA Change: I758T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000061470
Gene: ENSMUSG00000036676
AA Change: I758T

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 benign
Transcript: ENSMUST00000099318

SMART Domains

Protein: ENSMUSP00000096921
Gene: ENSMUSG00000036676

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

0.0603

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (78/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actb	T	C	5: 142,890,146 (GRCm39)	N252S	probably benign	Het
Adgrb1	C	A	15: 74,411,094 (GRCm39)	T330K	probably damaging	Het
Ahnak	A	G	19: 8,979,156 (GRCm39)	T147A	probably damaging	Het
Ankfy1	T	C	11: 72,603,034 (GRCm39)	V21A	probably damaging	Het
Arrdc4	T	A	7: 68,390,775 (GRCm39)	N322Y	probably damaging	Het
Bfsp2	C	A	9: 103,327,121 (GRCm39)	E205D	probably benign	Het
C2cd4b	T	A	9: 67,667,419 (GRCm39)	S138R	possibly damaging	Het
Camkk1	C	G	11: 72,917,873 (GRCm39)	N147K	probably damaging	Het
Ckap2l	T	A	2: 129,127,284 (GRCm39)	Q298L	possibly damaging	Het
Clstn2	G	T	9: 97,343,422 (GRCm39)	A675D	probably benign	Het
Cntnap2	G	A	6: 47,248,205 (GRCm39)	V1204M	possibly damaging	Het
Col4a1	C	T	8: 11,276,494 (GRCm39)		probably null	Het
Ctrc	T	C	4: 141,571,022 (GRCm39)	T73A	probably benign	Het
Cubn	A	G	2: 13,473,582 (GRCm39)	F454L	probably damaging	Het
Cuedc1	A	T	11: 88,060,692 (GRCm39)	S12C	unknown	Het
Cyb561a3	G	T	19: 10,565,268 (GRCm39)	G211C	probably damaging	Het
D5Ertd579e	A	T	5: 36,773,739 (GRCm39)	S219T	probably benign	Het
Dennd4c	T	A	4: 86,759,318 (GRCm39)	Y1783N	probably damaging	Het
Dennd4c	C	T	4: 86,698,111 (GRCm39)	P200S	possibly damaging	Het
Dnah6	G	A	6: 73,121,705 (GRCm39)	Q1426*	probably null	Het
Dync2h1	T	G	9: 7,011,247 (GRCm39)	T3649P	probably benign	Het
E2f8	T	C	7: 48,521,858 (GRCm39)	S415G	probably damaging	Het
Fbxo22	A	G	9: 55,122,261 (GRCm39)	I147V	probably benign	Het
Gclc	A	G	9: 77,683,473 (GRCm39)	Y110C	probably damaging	Het
Gstm5	A	G	3: 107,803,647 (GRCm39)	T27A	possibly damaging	Het
Heatr4	A	G	12: 84,024,856 (GRCm39)	S322P	probably benign	Het
Htt	T	A	5: 34,987,099 (GRCm39)	I1106N	probably benign	Het
Hunk	T	C	16: 90,183,570 (GRCm39)	V76A	probably benign	Het
Igkv12-98	C	T	6: 68,548,087 (GRCm39)	T72I	possibly damaging	Het
Igkv9-123	A	T	6: 67,931,629 (GRCm39)	W16R	possibly damaging	Het
Ipo7	T	C	7: 109,648,224 (GRCm39)	L674S	possibly damaging	Het
Kcnh6	T	C	11: 105,908,203 (GRCm39)	F273S	probably benign	Het
Lamb3	C	A	1: 193,002,848 (GRCm39)	Q98K	possibly damaging	Het
Lingo4	A	T	3: 94,310,162 (GRCm39)	T367S	probably benign	Het
Lypd6b	A	T	2: 49,832,512 (GRCm39)	I26F	probably benign	Het
Maneal	T	C	4: 124,750,512 (GRCm39)	T415A	probably benign	Het
Mapk1ip1l	A	G	14: 47,547,920 (GRCm39)	T23A	unknown	Het
Mrps17	T	A	5: 129,793,705 (GRCm39)		probably benign	Het
Mup13	T	G	4: 61,183,688 (GRCm39)	D45A	probably damaging	Het
Mycbpap	T	A	11: 94,400,073 (GRCm39)	D408V	probably damaging	Het
Myh10	A	G	11: 68,701,017 (GRCm39)	H1742R	probably benign	Het
Mylk4	A	G	13: 32,900,766 (GRCm39)	Y255H	probably damaging	Het
Nbeal1	A	G	1: 60,256,355 (GRCm39)	Q200R	probably benign	Het
Nkain2	TTTACTCGTT	TTT	10: 32,765,892 (GRCm39)		probably null	Het
Olfm4	T	C	14: 80,249,369 (GRCm39)	V162A	possibly damaging	Het
Or1j15	A	G	2: 36,458,708 (GRCm39)	T33A	probably benign	Het
Or51a8	T	C	7: 102,550,039 (GRCm39)	L155P	probably damaging	Het
Or5w8	T	C	2: 87,687,585 (GRCm39)	V22A	probably benign	Het
Or8c11	C	A	9: 38,289,456 (GRCm39)	T87K	probably benign	Het
Ovol3	T	A	7: 29,934,677 (GRCm39)	R43S	probably benign	Het
Pcbp1	A	G	6: 86,502,098 (GRCm39)	V267A	probably benign	Het
Phf20	T	A	2: 156,146,552 (GRCm39)	V903E	probably damaging	Het
Pi4k2b	T	G	5: 52,914,211 (GRCm39)	S316A	probably benign	Het
Pira1	G	A	7: 3,742,875 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,617,743 (GRCm39)	H947Q	probably damaging	Het
Ppip5k2	A	C	1: 97,678,478 (GRCm39)		probably null	Het
Prkca	T	A	11: 107,905,103 (GRCm39)	T212S	possibly damaging	Het
Psg16	A	T	7: 16,824,611 (GRCm39)	I41F	possibly damaging	Het
Rae1	T	A	2: 172,851,238 (GRCm39)	F204I	probably benign	Het
Rasef	T	A	4: 73,662,374 (GRCm39)	N192I	probably damaging	Het
Rfc1	T	A	5: 65,420,478 (GRCm39)	R1122S	unknown	Het
Rfx2	A	T	17: 57,110,681 (GRCm39)	S102T	probably benign	Het
Sez6l	A	G	5: 112,588,773 (GRCm39)	Y647H	probably damaging	Het
Siglecf	A	G	7: 43,001,395 (GRCm39)	Y121C	probably damaging	Het
Slc27a5	T	C	7: 12,725,089 (GRCm39)	T453A	possibly damaging	Het
Slc44a2	G	A	9: 21,254,048 (GRCm39)	R171Q	probably damaging	Het
Slc4a9	A	C	18: 36,673,874 (GRCm39)	E889A	possibly damaging	Het
Snx31	C	A	15: 36,555,621 (GRCm39)	R13L	probably benign	Het
Spag6l	A	T	16: 16,584,883 (GRCm39)	Y422N	probably benign	Het
Spmip5	T	C	19: 58,777,654 (GRCm39)	E52G	probably damaging	Het
Sulf2	T	C	2: 165,959,008 (GRCm39)	T67A	probably damaging	Het
Syne2	G	A	12: 76,013,758 (GRCm39)	R2983Q	probably benign	Het
Top2a	T	A	11: 98,895,072 (GRCm39)	I843L	possibly damaging	Het
Tph1	T	C	7: 46,306,285 (GRCm39)		probably null	Het
Trdmt1	A	G	2: 13,520,933 (GRCm39)	L323P	probably damaging	Het
Ush2a	A	T	1: 188,285,395 (GRCm39)	E1977V	probably damaging	Het
Utp4	A	G	8: 107,640,095 (GRCm39)	E468G	probably benign	Het
Uts2r	A	G	11: 121,051,558 (GRCm39)	T141A	possibly damaging	Het
Vmn1r230	A	G	17: 21,066,952 (GRCm39)	Y47C	probably damaging	Het

Other mutations in Tmtc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Tmtc3	APN	10	100,307,342 (GRCm39)	missense	probably benign
IGL00962:Tmtc3	APN	10	100,307,815 (GRCm39)	missense	probably damaging	1.00
IGL01670:Tmtc3	APN	10	100,282,987 (GRCm39)	missense	probably benign	0.02
IGL01729:Tmtc3	APN	10	100,283,017 (GRCm39)	missense	probably benign
IGL01933:Tmtc3	APN	10	100,283,467 (GRCm39)	missense	probably benign	0.00
IGL01961:Tmtc3	APN	10	100,282,893 (GRCm39)	missense	probably benign
IGL03063:Tmtc3	APN	10	100,283,468 (GRCm39)	missense	probably benign	0.00
IGL03176:Tmtc3	APN	10	100,301,993 (GRCm39)	missense	possibly damaging	0.57
IGL03195:Tmtc3	APN	10	100,294,896 (GRCm39)	missense	probably benign	0.00
IGL03238:Tmtc3	APN	10	100,313,702 (GRCm39)	missense	probably damaging	1.00
IGL03272:Tmtc3	APN	10	100,292,942 (GRCm39)	missense	probably benign	0.00
IGL03335:Tmtc3	APN	10	100,302,116 (GRCm39)	missense	probably damaging	0.97
IGL03375:Tmtc3	APN	10	100,283,581 (GRCm39)	missense	possibly damaging	0.67
IGL03409:Tmtc3	APN	10	100,287,294 (GRCm39)	missense	possibly damaging	0.75
concordat	UTSW	10	100,286,214 (GRCm39)	nonsense	probably null
R0078:Tmtc3	UTSW	10	100,284,823 (GRCm39)	missense	probably damaging	1.00
R0121:Tmtc3	UTSW	10	100,294,770 (GRCm39)	splice site	probably benign
R0234:Tmtc3	UTSW	10	100,286,184 (GRCm39)	missense	probably benign	0.44
R0234:Tmtc3	UTSW	10	100,286,184 (GRCm39)	missense	probably benign	0.44
R0480:Tmtc3	UTSW	10	100,307,266 (GRCm39)	missense	probably damaging	1.00
R1136:Tmtc3	UTSW	10	100,307,905 (GRCm39)	unclassified	probably benign
R1203:Tmtc3	UTSW	10	100,312,606 (GRCm39)	missense	probably damaging	1.00
R1253:Tmtc3	UTSW	10	100,287,252 (GRCm39)	missense	probably benign	0.05
R2181:Tmtc3	UTSW	10	100,284,835 (GRCm39)	missense	probably benign	0.00
R3011:Tmtc3	UTSW	10	100,283,444 (GRCm39)	missense	possibly damaging	0.76
R3430:Tmtc3	UTSW	10	100,283,437 (GRCm39)	missense	probably benign	0.29
R3910:Tmtc3	UTSW	10	100,284,888 (GRCm39)	missense	probably damaging	1.00
R3911:Tmtc3	UTSW	10	100,284,888 (GRCm39)	missense	probably damaging	1.00
R3912:Tmtc3	UTSW	10	100,284,888 (GRCm39)	missense	probably damaging	1.00
R4773:Tmtc3	UTSW	10	100,293,001 (GRCm39)	missense	possibly damaging	0.66
R4838:Tmtc3	UTSW	10	100,302,082 (GRCm39)	missense	probably damaging	1.00
R4996:Tmtc3	UTSW	10	100,283,086 (GRCm39)	missense	probably damaging	0.99
R5131:Tmtc3	UTSW	10	100,284,841 (GRCm39)	missense	probably damaging	1.00
R5976:Tmtc3	UTSW	10	100,312,534 (GRCm39)	missense	probably benign	0.00
R6700:Tmtc3	UTSW	10	100,307,339 (GRCm39)	missense	probably benign	0.00
R7187:Tmtc3	UTSW	10	100,313,774 (GRCm39)	missense	probably damaging	1.00
R7211:Tmtc3	UTSW	10	100,283,467 (GRCm39)	missense	probably benign	0.05
R7299:Tmtc3	UTSW	10	100,283,336 (GRCm39)	missense	not run
R7301:Tmtc3	UTSW	10	100,283,336 (GRCm39)	missense	not run
R7509:Tmtc3	UTSW	10	100,301,956 (GRCm39)	missense	probably damaging	1.00
R7614:Tmtc3	UTSW	10	100,286,214 (GRCm39)	nonsense	probably null
R8329:Tmtc3	UTSW	10	100,283,296 (GRCm39)	missense	probably damaging	0.99
R8394:Tmtc3	UTSW	10	100,282,808 (GRCm39)	missense	probably damaging	1.00
R8771:Tmtc3	UTSW	10	100,286,180 (GRCm39)	missense	possibly damaging	0.80
R9317:Tmtc3	UTSW	10	100,301,896 (GRCm39)	missense	probably benign
RF023:Tmtc3	UTSW	10	100,313,728 (GRCm39)	missense	probably benign
Z1176:Tmtc3	UTSW	10	100,307,318 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TGGCGTTGAATATACTCCTCATG -3'
(R):5'- TCAATTTGGGGATGCTCGC -3'

Sequencing Primer
(F):5'- CCTCATGAGGTGCTAATGCCAATG -3'
(R):5'- ATGCTCGCCATGGATGAC -3'

Posted On

2019-09-13