Mutagenetix > Incidental Mutation

Incidental Mutation 'R0234:Tmtc3'

66029

Institutional Source

Beutler Lab

Gene Symbol

Tmtc3

Ensembl Gene

ENSMUSG00000036676

Gene Name

transmembrane and tetratricopeptide repeat containing 3

Synonyms

B130008E12Rik, mSmile, 9130014E20Rik

MMRRC Submission

038475-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.855) question?

Stock #

R0234 (G1)

Quality Score

136

Status

Not validated

Chromosome

Chromosomal Location

100279764-100323212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100286184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 546 (N546K)

Ref Sequence

ENSEMBL: ENSMUSP00000096921 (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: N546K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000061470
Gene: ENSMUSG00000036676
AA Change: N546K

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
AA Change: N546K

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096921
Gene: ENSMUSG00000036676
AA Change: N546K

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

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.1%
20x: 83.3%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,660,941 (GRCm39)	R197G	possibly damaging	Het
Acacb	A	T	5: 114,347,878 (GRCm39)	H983L	probably damaging	Het
Adal	T	A	2: 120,978,798 (GRCm39)	D139E	probably benign	Het
Adam6b	G	A	12: 113,454,230 (GRCm39)	R349H	probably damaging	Het
Agap1	A	G	1: 89,598,934 (GRCm39)	K331E	probably damaging	Het
B3gat1	A	G	9: 26,667,377 (GRCm39)	E203G	probably damaging	Het
Bsn	T	C	9: 107,993,595 (GRCm39)	E719G	possibly damaging	Het
Cap2	G	C	13: 46,791,498 (GRCm39)		probably null	Het
Ccni	A	G	5: 93,350,186 (GRCm39)	V31A	probably benign	Het
Cdcp3	T	A	7: 130,796,032 (GRCm39)		probably null	Het
Clns1a	T	A	7: 97,363,239 (GRCm39)	Y204N	possibly damaging	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Dsp	A	G	13: 38,371,869 (GRCm39)	N940S	probably benign	Het
Erbb2	T	C	11: 98,327,265 (GRCm39)	V1181A	probably benign	Het
Exoc4	T	C	6: 33,839,022 (GRCm39)	V686A	possibly damaging	Het
F830045P16Rik	A	G	2: 129,305,384 (GRCm39)	V330A	possibly damaging	Het
Fbf1	A	C	11: 116,045,860 (GRCm39)	F245V	probably damaging	Het
Fut10	T	A	8: 31,726,225 (GRCm39)	F327I	probably damaging	Het
Galnt1	C	T	18: 24,387,690 (GRCm39)	P144S	probably damaging	Het
Garin4	T	C	1: 190,895,105 (GRCm39)	S513G	probably benign	Het
Ghrhr	A	T	6: 55,356,171 (GRCm39)	D88V	possibly damaging	Het
Greb1l	T	A	18: 10,560,331 (GRCm39)	C1864S	probably damaging	Het
H1f2	T	C	13: 23,923,106 (GRCm39)	I92T	probably benign	Het
Hps1	T	C	19: 42,750,992 (GRCm39)	E336G	probably damaging	Het
Irgc	C	A	7: 24,132,753 (GRCm39)	E21D	possibly damaging	Het
Itsn1	A	T	16: 91,625,168 (GRCm39)	R590*	probably null	Het
Katnip	T	C	7: 125,394,557 (GRCm39)	V211A	probably benign	Het
Lmln	T	C	16: 32,886,694 (GRCm39)	V67A	probably damaging	Het
Lsm14a	T	C	7: 34,065,042 (GRCm39)	Q179R	probably damaging	Het
Ltbr	A	C	6: 125,289,836 (GRCm39)	D119E	probably benign	Het
Mrc1	A	G	2: 14,284,705 (GRCm39)	T565A	possibly damaging	Het
Muc6	A	C	7: 141,235,939 (GRCm39)	N473K	possibly damaging	Het
Myocd	A	T	11: 65,078,066 (GRCm39)	D448E	probably benign	Het
Neil2	T	A	14: 63,420,975 (GRCm39)	I239F	probably damaging	Het
Npnt	A	G	3: 132,620,175 (GRCm39)	F123S	possibly damaging	Het
Or2g25	T	A	17: 37,970,997 (GRCm39)	I76F	probably damaging	Het
Or4f15	T	C	2: 111,813,645 (GRCm39)	Y258C	probably damaging	Het
Or52x1	C	A	7: 104,852,821 (GRCm39)	C243F	probably damaging	Het
Or56a5	T	C	7: 104,793,281 (GRCm39)	D73G	probably damaging	Het
Or5d37	T	A	2: 87,923,366 (GRCm39)	R305*	probably null	Het
Or8d1b	A	C	9: 38,887,547 (GRCm39)		probably null	Het
Or9i2	C	T	19: 13,815,902 (GRCm39)	V212M	possibly damaging	Het
Pcnx3	T	C	19: 5,722,646 (GRCm39)	T941A	probably benign	Het
Pitrm1	C	A	13: 6,625,115 (GRCm39)	Y864*	probably null	Het
Plcb4	T	C	2: 135,823,995 (GRCm39)	I844T	probably benign	Het
Ppp1r3b	T	A	8: 35,851,655 (GRCm39)	F165I	probably damaging	Het
Prr5	T	A	15: 84,587,322 (GRCm39)	F357L	probably damaging	Het
Rbm15b	T	C	9: 106,762,563 (GRCm39)	Y535C	probably damaging	Het
Rbp3	A	T	14: 33,677,858 (GRCm39)	E602V	probably damaging	Het
Rimklb	T	C	6: 122,433,292 (GRCm39)	N343S	probably benign	Het
Rrp12	A	G	19: 41,860,199 (GRCm39)	L1008P	probably damaging	Het
Sec63	C	T	10: 42,674,794 (GRCm39)	R226C	probably damaging	Het
Sirpa	T	C	2: 129,457,388 (GRCm39)	V154A	probably damaging	Het
Slc22a23	G	A	13: 34,367,244 (GRCm39)	T588I	probably damaging	Het
Slc22a27	C	A	19: 7,904,156 (GRCm39)		probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc5a5	A	T	8: 71,342,277 (GRCm39)	M258K	probably damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Stk11ip	A	G	1: 75,505,711 (GRCm39)	D460G	possibly damaging	Het
Syn3	T	A	10: 86,284,750 (GRCm39)	I117F	possibly damaging	Het
Tead4	C	T	6: 128,220,365 (GRCm39)	A224T	probably damaging	Het
Tnn	T	A	1: 159,916,036 (GRCm39)	H1227L	probably damaging	Het
Tor2a	G	A	2: 32,648,716 (GRCm39)	G62D	probably damaging	Het
Trf	T	C	9: 103,104,078 (GRCm39)		probably null	Het
Ubr5	T	C	15: 37,968,737 (GRCm39)	T2727A	probably damaging	Het
Vmn2r27	T	A	6: 124,208,578 (GRCm39)	T56S	probably benign	Het
Wipf3	T	G	6: 54,473,486 (GRCm39)	L458R	probably damaging	Het
Zfp236	T	C	18: 82,648,119 (GRCm39)	K966R	probably damaging	Het
Zfp27	T	A	7: 29,593,532 (GRCm39)	H811L	possibly damaging	Het
Zfp366	A	G	13: 99,370,768 (GRCm39)	H496R	probably damaging	Het
Zfp467	A	T	6: 48,415,689 (GRCm39)	V321E	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
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
R7329:Tmtc3	UTSW	10	100,283,281 (GRCm39)	missense	probably benign	0.00
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

Posted On

2013-08-19