Mutagenetix > Incidental Mutation

Incidental Mutation 'R7509:Tmtc3'

581969

Institutional Source

Beutler Lab

Gene Symbol

Tmtc3

Ensembl Gene

ENSMUSG00000036676

Gene Name

transmembrane and tetratricopeptide repeat containing 3

Synonyms

B130008E12Rik, mSmile, 9130014E20Rik

MMRRC Submission

045582-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.836) question?

Stock #

R7509 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100279764-100323212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100301956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 331 (F331Y)

Ref Sequence

ENSEMBL: ENSMUSP00000061470 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000058154
AA Change: F331Y

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

SMART Domains

Protein: ENSMUSP00000061470
Gene: ENSMUSG00000036676
AA Change: F331Y

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: F331Y

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

SMART Domains

Protein: ENSMUSP00000096921
Gene: ENSMUSG00000036676
AA Change: F331Y

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	A	G	7: 119,133,611 (GRCm39)	S259G	probably benign	Het
Adamts16	G	T	13: 70,935,283 (GRCm39)	N436K	probably damaging	Het
Asb3	T	A	11: 30,948,507 (GRCm39)	M61K	probably benign	Het
Catspere2	A	G	1: 177,905,078 (GRCm39)	T163A	possibly damaging	Het
Ccser2	A	G	14: 36,660,602 (GRCm39)	L517P	probably damaging	Het
Cd226	A	G	18: 89,265,195 (GRCm39)	T158A	probably benign	Het
Chd6	A	T	2: 160,855,074 (GRCm39)	I778N	probably damaging	Het
Cnga4	T	C	7: 105,056,097 (GRCm39)	V336A	probably benign	Het
Cpd	C	T	11: 76,688,702 (GRCm39)	V857I	probably benign	Het
Cpm	A	G	10: 117,495,745 (GRCm39)	Y78C	probably damaging	Het
Cst7	A	T	2: 150,419,624 (GRCm39)	T97S	probably benign	Het
Cttnbp2nl	T	C	3: 104,940,046 (GRCm39)	K8E	possibly damaging	Het
Erbb4	A	T	1: 68,289,739 (GRCm39)	D767E	possibly damaging	Het
Esyt2	T	C	12: 116,329,496 (GRCm39)	S685P	probably damaging	Het
Fam110d	A	C	4: 133,979,424 (GRCm39)	V18G	probably damaging	Het
Gcfc2	T	C	6: 81,930,256 (GRCm39)	L641P	probably damaging	Het
Gcnt4	T	A	13: 97,083,678 (GRCm39)	F325I	probably benign	Het
Glg1	T	G	8: 111,985,675 (GRCm39)	S52R	probably benign	Het
Gm10577	G	A	4: 100,877,848 (GRCm39)	L16F	unknown	Het
Gm14326	C	T	2: 177,587,493 (GRCm39)	G501D	probably benign	Het
Gm1587	G	A	14: 78,034,464 (GRCm39)	P35S	unknown	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Helb	T	A	10: 119,925,719 (GRCm39)	H886L	probably damaging	Het
Hgsnat	A	G	8: 26,445,754 (GRCm39)	V380A	probably damaging	Het
Hmbs	T	A	9: 44,248,208 (GRCm39)	R125S		Het
Hsd17b4	A	T	18: 50,297,749 (GRCm39)	Y346F	probably damaging	Het
Inpp4a	T	C	1: 37,426,911 (GRCm39)	L624P	probably damaging	Het
Irak2	AC	ACC	6: 113,667,859 (GRCm39)		probably null	Het
Itga11	C	T	9: 62,689,222 (GRCm39)	T1129I	probably benign	Het
Itih4	G	A	14: 30,617,404 (GRCm39)	V575I	probably benign	Het
Kcnn2	A	G	18: 45,816,187 (GRCm39)	T473A	probably benign	Het
Kidins220	T	C	12: 25,032,360 (GRCm39)	V31A	probably damaging	Het
Lrch1	G	A	14: 75,185,048 (GRCm39)	T18I	probably benign	Het
Ly6e	T	C	15: 74,830,135 (GRCm39)	F30L	probably damaging	Het
Med13l	A	G	5: 118,886,995 (GRCm39)	D1632G	probably damaging	Het
Mei4	T	A	9: 81,907,630 (GRCm39)	L320Q	probably damaging	Het
Mlip	T	G	9: 77,088,678 (GRCm39)	T197P	probably damaging	Het
Mon2	G	A	10: 122,868,457 (GRCm39)	A532V	probably benign	Het
Myh1	C	T	11: 67,101,287 (GRCm39)	P688S	probably benign	Het
Ncapg	G	A	5: 45,853,450 (GRCm39)	D900N	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Ntn4	A	G	10: 93,546,430 (GRCm39)	N361S	probably benign	Het
Nudt16l1	T	A	16: 4,757,082 (GRCm39)	H26Q	probably damaging	Het
Obscn	G	A	11: 58,942,455 (GRCm39)	T4348I	probably benign	Het
Or10d4b	T	A	9: 39,534,623 (GRCm39)	I66N	probably damaging	Het
Or8c20	T	A	9: 38,260,868 (GRCm39)	M157K	probably benign	Het
Pcdh7	T	A	5: 57,877,529 (GRCm39)	D361E	probably damaging	Het
Pcdhb7	C	A	18: 37,475,074 (GRCm39)	T70K	possibly damaging	Het
Pcdhga3	T	A	18: 37,808,910 (GRCm39)	Y454*	probably null	Het
Pigc	A	T	1: 161,798,545 (GRCm39)	T176S	probably benign	Het
Pola2	A	T	19: 6,011,194 (GRCm39)	S43R	probably benign	Het
Pole	A	T	5: 110,478,571 (GRCm39)		probably benign	Het
Polq	C	A	16: 36,880,705 (GRCm39)	D956E	probably benign	Het
Polq	T	A	16: 36,880,706 (GRCm39)	C957S	probably benign	Het
Ppp3cc	G	A	14: 70,504,131 (GRCm39)	T107I	probably damaging	Het
Prss39	C	A	1: 34,539,280 (GRCm39)	H173Q	possibly damaging	Het
Reep4	A	G	14: 70,785,928 (GRCm39)	D256G	probably benign	Het
Rfc3	A	G	5: 151,570,975 (GRCm39)	V107A	probably damaging	Het
Slc19a3	A	G	1: 83,003,981 (GRCm39)	L40P	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Strada	C	A	11: 106,077,920 (GRCm39)	V15F	unknown	Het
Suco	A	T	1: 161,672,903 (GRCm39)	S440T	probably damaging	Het
Svep1	A	T	4: 58,090,683 (GRCm39)	C1595S	probably benign	Het
Synpo	G	T	18: 60,736,566 (GRCm39)	T460K	probably damaging	Het
Tagap	A	T	17: 8,147,568 (GRCm39)	I93F	probably damaging	Het
Tnpo1	A	C	13: 99,006,751 (GRCm39)	I225M	probably benign	Het
Tollip	A	T	7: 141,445,878 (GRCm39)	M70K	probably benign	Het
Trpm7	A	T	2: 126,691,842 (GRCm39)	I171N	probably damaging	Het
Ttc41	G	T	10: 86,549,296 (GRCm39)	E163D	probably damaging	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Vmn2r20	C	T	6: 123,362,382 (GRCm39)	V801I	probably benign	Het
Vmn2r82	G	A	10: 79,231,842 (GRCm39)	V614I	possibly damaging	Het
Vmn2r96	G	A	17: 18,802,995 (GRCm39)	E302K	probably benign	Het
Vwf	T	C	6: 125,619,132 (GRCm39)	F1270S		Het
Wdr3	A	T	3: 100,058,503 (GRCm39)	F367L	probably benign	Het
Zfp592	A	G	7: 80,688,088 (GRCm39)	S1005G	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
R7329:Tmtc3	UTSW	10	100,283,281 (GRCm39)	missense	probably benign	0.00
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'- GACAAAGGGATGCACTGTTTTC -3'
(R):5'- AATCCAGCTGCTGTAAGCCC -3'

Sequencing Primer
(F):5'- GCAATCCAACAGGTTTATAAATCAGG -3'
(R):5'- GCTGCTGTAAGCCCAACCC -3'

Posted On

2019-10-17