Mutagenetix > Incidental Mutation

Incidental Mutation 'R7299:Tmtc3'

566877

Institutional Source

Beutler Lab

Gene Symbol

Tmtc3

Ensembl Gene

ENSMUSG00000036676

Gene Name

transmembrane and tetratricopeptide repeat containing 3

Synonyms

B130008E12Rik, mSmile, 9130014E20Rik

MMRRC Submission

045403-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.855) question?

Stock #

R7299 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100279764-100323212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100283336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 740 (H740N)

Ref Sequence

ENSEMBL: ENSMUSP00000061470 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

not run
Transcript: ENSMUST00000058154
AA Change: H740N

SMART Domains

Protein: ENSMUSP00000061470
Gene: ENSMUSG00000036676
AA Change: H740N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

99% (71/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,095 (GRCm39)	K83N	unknown	Het
Abca13	A	T	11: 9,244,649 (GRCm39)	N2171Y	probably damaging	Het
Abcc8	G	A	7: 45,754,922 (GRCm39)	T1532I	possibly damaging	Het
Abtb2	A	T	2: 103,532,769 (GRCm39)		probably null	Het
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Agk	A	T	6: 40,306,451 (GRCm39)	T7S	possibly damaging	Het
Akap9	C	A	5: 4,082,696 (GRCm39)	T1940K	probably damaging	Het
Ccdc8	A	G	7: 16,729,956 (GRCm39)	T482A	unknown	Het
Cd2ap	G	A	17: 43,140,904 (GRCm39)	R212*	probably null	Het
Cenpt	G	A	8: 106,576,536 (GRCm39)	Q45*	probably null	Het
Cnga1	T	C	5: 72,762,775 (GRCm39)	I246M	probably benign	Het
Cnot7	A	G	8: 40,960,586 (GRCm39)	I74T	probably damaging	Het
Cog6	T	C	3: 52,909,928 (GRCm39)	S275G	probably benign	Het
Csmd2	C	A	4: 128,422,055 (GRCm39)	D2797E		Het
Ddx24	A	G	12: 103,385,709 (GRCm39)	M298T	possibly damaging	Het
Eif2b3	T	A	4: 116,910,019 (GRCm39)	S185T	probably benign	Het
Ergic2	T	A	6: 148,089,610 (GRCm39)	Y249F	probably damaging	Het
Exoc1	T	A	5: 76,690,006 (GRCm39)	M182K	probably damaging	Het
Fhdc1	T	C	3: 84,351,847 (GRCm39)	E1126G	probably damaging	Het
Gabrr2	T	A	4: 33,095,284 (GRCm39)	M391K	probably benign	Het
Gap43	T	C	16: 42,112,615 (GRCm39)	K49E	probably damaging	Het
Gata4	T	A	14: 63,441,191 (GRCm39)	T276S	probably damaging	Het
Gca	C	T	2: 62,520,320 (GRCm39)	P160L	probably benign	Het
Ghdc	C	T	11: 100,658,942 (GRCm39)	V397I	possibly damaging	Het
Gm3409	T	A	5: 146,476,357 (GRCm39)	D169E	probably benign	Het
Gtf3c3	G	A	1: 54,456,867 (GRCm39)	P511L	probably benign	Het
Hal	T	C	10: 93,328,423 (GRCm39)	V233A	probably benign	Het
Ighv1-4	T	C	12: 114,450,908 (GRCm39)	I67V	probably benign	Het
Itgb8	T	C	12: 119,166,196 (GRCm39)	N112D	probably benign	Het
Klhl38	G	A	15: 58,186,376 (GRCm39)	R118W	probably damaging	Het
Krtap26-1	T	C	16: 88,444,132 (GRCm39)	Y163C	possibly damaging	Het
Kyat1	T	C	2: 30,082,007 (GRCm39)	D44G	probably benign	Het
Mob1a	G	A	6: 83,315,431 (GRCm39)		probably null	Het
Mst1r	G	T	9: 107,791,989 (GRCm39)	A842S	possibly damaging	Het
Nhsl1	A	G	10: 18,403,419 (GRCm39)		probably null	Het
Nos1	A	T	5: 118,005,970 (GRCm39)	D230V	possibly damaging	Het
Nppb	T	C	4: 148,070,780 (GRCm39)	S52P	probably benign	Het
Odad2	T	C	18: 7,222,635 (GRCm39)	K545E	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or1s2	G	A	19: 13,758,688 (GRCm39)	W235*	probably null	Het
Pcdha3	G	A	18: 37,079,977 (GRCm39)	E240K	possibly damaging	Het
Podxl	G	T	6: 31,501,371 (GRCm39)	P395T	probably damaging	Het
Prr5l	T	A	2: 101,547,631 (GRCm39)	D298V	probably damaging	Het
Ptpro	G	A	6: 137,418,142 (GRCm39)		probably null	Het
Rad9b	A	G	5: 122,490,677 (GRCm39)	V13A	possibly damaging	Het
Ralgps1	T	C	2: 33,047,885 (GRCm39)	K365R	probably benign	Het
Reep1	A	T	6: 71,738,373 (GRCm39)	I44L	probably benign	Het
Ripor2	T	C	13: 24,908,984 (GRCm39)	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,812,016 (GRCm39)	Y338H	probably damaging	Het
Shisa5	G	T	9: 108,883,952 (GRCm39)		probably benign	Het
Snx24	G	T	18: 53,473,244 (GRCm39)	V63F	probably damaging	Het
Svep1	G	A	4: 58,046,587 (GRCm39)	Q3515*	probably null	Het
Tfap2a	T	C	13: 40,874,784 (GRCm39)	K276E	probably damaging	Het
Tmem158	C	A	9: 123,089,366 (GRCm39)	S82I	probably damaging	Het
Tmem263	T	A	10: 84,950,261 (GRCm39)		probably null	Het
Tnrc6a	A	C	7: 122,770,136 (GRCm39)	N642T	probably benign	Het
Top3a	A	T	11: 60,638,974 (GRCm39)	F559I	probably damaging	Het
Trak1	A	G	9: 121,280,929 (GRCm39)		probably null	Het
Trpc4	T	C	3: 54,225,048 (GRCm39)	I799T	possibly damaging	Het
Ttc7	T	C	17: 87,653,970 (GRCm39)	I549T	possibly damaging	Het
Tysnd1	C	A	10: 61,532,328 (GRCm39)	P327T	possibly damaging	Het
Ulk4	T	A	9: 120,974,125 (GRCm39)	D969V	probably benign	Het
Vcan	T	A	13: 89,853,385 (GRCm39)	Y525F	probably benign	Het
Vmn1r204	G	A	13: 22,740,975 (GRCm39)	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,565,878 (GRCm39)	I64M	probably benign	Het
Wrn	A	G	8: 33,782,746 (GRCm39)	F728S	probably damaging	Het
Zfp280b	C	G	10: 75,874,537 (GRCm39)	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,541,313 (GRCm39)	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,541,314 (GRCm39)	G143S	probably benign	Het
Zfp418	T	A	7: 7,185,827 (GRCm39)	C597S	possibly damaging	Het
Zfp568	A	G	7: 29,716,669 (GRCm39)	T190A	probably benign	Het
Zfyve26	A	T	12: 79,329,758 (GRCm39)	V476D	probably benign	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
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

2019-06-26