Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03351:Trappc10'

419726

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trappc10

Ensembl Gene

ENSMUSG00000000374

Gene Name

trafficking protein particle complex 10

Synonyms

Tmem1, LOC380642, B230307C21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

78186725-78244641 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78188761 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1178 (D1178G)

Ref Sequence

ENSEMBL: ENSMUSP00000000384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000384] [ENSMUST00000042556]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000000384
AA Change: D1178G

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

SMART Domains

Protein: ENSMUSP00000000384
Gene: ENSMUSG00000000374
AA Change: D1178G

Domain	Start	End	E-Value	Type
Pfam:TRAPPC10	1016	1245	1.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042556

SMART Domains

Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834

Domain	Start	End	E-Value	Type
WD40	43	83	1.47e2	SMART
WD40	86	123	1.78e1	SMART
WD40	133	172	5.35e-1	SMART
WD40	177	216	8.29e-1	SMART
low complexity region	239	254	N/A	INTRINSIC
WD40	273	316	1.9e2	SMART
WD40	319	359	4.44e0	SMART
WD40	362	401	7.44e-8	SMART
WD40	404	443	3.87e-6	SMART
WD40	446	487	5.7e1	SMART
WD40	490	529	1.28e-11	SMART
WD40	533	571	9.94e-1	SMART
WD40	594	633	4.95e0	SMART
WD40	692	729	2.21e1	SMART
Pfam:Utp12	771	875	9.4e-25	PFAM
low complexity region	890	902	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219948

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit cardiovascular phenotypes, including atrioventricular or ventricular septal defects, thymus hypoplasia, and eye defects such as microphthalmia or anophthalmia. Holoprosencephaly, anencephaly and severe craniofacial defects may be also present. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550L24Rik	G	A	X: 58,918,937	V19I	probably benign	Het
4932414N04Rik	T	A	2: 68,731,083	D251E	probably benign	Het
4932415D10Rik	T	C	10: 82,283,567		probably benign	Het
5730460C07Rik	C	T	3: 153,789,958		noncoding transcript	Het
Coch	G	A	12: 51,603,206	R326Q	probably benign	Het
Cpa3	A	G	3: 20,215,962	V366A	probably benign	Het
Csf1r	C	T	18: 61,117,108	Q382*	probably null	Het
Csta1	C	A	16: 36,131,041	G4*	probably null	Het
Cts7	T	C	13: 61,356,603	R49G	probably damaging	Het
Dlg5	A	G	14: 24,170,454	V575A	probably benign	Het
Ero1l	G	T	14: 45,294,533	N227K	probably benign	Het
Faap24	G	T	7: 35,395,309	C58*	probably null	Het
Gm13089	G	A	4: 143,697,088	T377I	possibly damaging	Het
Hfm1	G	A	5: 106,911,575	Q194*	probably null	Het
Hs3st5	T	A	10: 36,833,323	Y285N	probably damaging	Het
Hyal6	G	A	6: 24,743,429	G375R	probably damaging	Het
Itgb5	T	C	16: 33,910,552	S93P	probably benign	Het
Kcnj6	A	T	16: 94,832,583	M205K	probably damaging	Het
Kdm6a	C	T	X: 18,247,104	Q92*	probably null	Het
Klhl38	A	G	15: 58,323,330	M1T	probably null	Het
Krtap7-1	T	C	16: 89,507,996		probably benign	Het
L1cam	T	C	X: 73,863,028	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,016	N45S	probably benign	Het
Mmp2	A	G	8: 92,839,342	I424V	probably benign	Het
Myh8	A	G	11: 67,303,913	Q1650R	possibly damaging	Het
Naalad2	T	A	9: 18,364,187	E313V	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652	M368I	probably benign	Het
Nupl1	T	C	14: 60,228,775	T445A	probably benign	Het
Olfr294	A	G	7: 86,615,677	Y323H	possibly damaging	Het
Olfr582	A	G	7: 103,042,130	D212G	probably damaging	Het
Pkp3	A	G	7: 141,082,693	T73A	probably benign	Het
Pole	A	G	5: 110,301,998		probably benign	Het
Ppp2r3a	C	T	9: 101,211,192	G644D	probably benign	Het
Ptprb	T	C	10: 116,339,582	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,437,943	K264N	probably damaging	Het
Rasal2	T	C	1: 157,192,741		probably benign	Het
Serpina6	A	T	12: 103,646,913	I376N	probably damaging	Het
Setx	T	G	2: 29,161,799	I2062M	probably benign	Het
Slc9c1	A	G	16: 45,543,168	D99G	probably benign	Het
Taok1	A	G	11: 77,560,328	Y309H	probably damaging	Het
Trav5-1	G	A	14: 52,622,845	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,314,837	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,307,750	S152C	probably damaging	Het
Washc5	C	A	15: 59,363,350		probably benign	Het
Zfp369	T	G	13: 65,296,153	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,513,347	Y234C	probably damaging	Het

Other mutations in Trappc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Trappc10	APN	10	78203877	splice site	probably benign
IGL01375:Trappc10	APN	10	78188899	missense	possibly damaging	0.75
IGL01413:Trappc10	APN	10	78197844	missense	possibly damaging	0.87
IGL02413:Trappc10	APN	10	78210776	missense	probably damaging	0.99
IGL03037:Trappc10	APN	10	78199035	unclassified	probably benign
IGL03094:Trappc10	APN	10	78228920	splice site	probably benign
IGL03164:Trappc10	APN	10	78220242	missense	probably damaging	1.00
IGL03055:Trappc10	UTSW	10	78214686	missense	probably damaging	1.00
IGL03098:Trappc10	UTSW	10	78214686	missense	probably damaging	1.00
R0304:Trappc10	UTSW	10	78210760	splice site	probably benign
R0605:Trappc10	UTSW	10	78201497	missense	possibly damaging	0.70
R1806:Trappc10	UTSW	10	78210776	missense	probably damaging	0.99
R1856:Trappc10	UTSW	10	78196451	missense	probably benign	0.00
R2045:Trappc10	UTSW	10	78209479	splice site	probably benign
R2088:Trappc10	UTSW	10	78196334	missense	probably benign	0.00
R2126:Trappc10	UTSW	10	78203924	missense	possibly damaging	0.94
R2202:Trappc10	UTSW	10	78199042	critical splice donor site	probably null
R2509:Trappc10	UTSW	10	78211523	missense	possibly damaging	0.51
R2510:Trappc10	UTSW	10	78211523	missense	possibly damaging	0.51
R2511:Trappc10	UTSW	10	78211523	missense	possibly damaging	0.51
R2893:Trappc10	UTSW	10	78193401	missense	probably benign	0.00
R3744:Trappc10	UTSW	10	78199090	missense	probably benign	0.00
R3778:Trappc10	UTSW	10	78200802	missense	possibly damaging	0.89
R3876:Trappc10	UTSW	10	78220186	splice site	probably null
R3930:Trappc10	UTSW	10	78210403	missense	probably benign	0.03
R4078:Trappc10	UTSW	10	78210382	missense	probably damaging	1.00
R4111:Trappc10	UTSW	10	78196430	missense	probably benign	0.09
R4418:Trappc10	UTSW	10	78217188	missense	probably damaging	1.00
R4549:Trappc10	UTSW	10	78231458	missense	probably damaging	1.00
R4695:Trappc10	UTSW	10	78197863	missense	probably damaging	0.99
R4799:Trappc10	UTSW	10	78201590	missense	possibly damaging	0.71
R5022:Trappc10	UTSW	10	78217160	missense	possibly damaging	0.72
R5023:Trappc10	UTSW	10	78217160	missense	possibly damaging	0.72
R5026:Trappc10	UTSW	10	78204288	missense	possibly damaging	0.82
R5057:Trappc10	UTSW	10	78217160	missense	possibly damaging	0.72
R5282:Trappc10	UTSW	10	78187860	missense	probably damaging	1.00
R5363:Trappc10	UTSW	10	78188840	missense	possibly damaging	0.92
R5813:Trappc10	UTSW	10	78222739	missense	probably damaging	1.00
R5831:Trappc10	UTSW	10	78209426	missense	probably damaging	1.00
R6209:Trappc10	UTSW	10	78214812	missense	possibly damaging	0.50
R6450:Trappc10	UTSW	10	78209450	missense	possibly damaging	0.92
R6520:Trappc10	UTSW	10	78201453	missense	probably benign	0.00
R6533:Trappc10	UTSW	10	78188894	missense	probably damaging	0.96
R6767:Trappc10	UTSW	10	78193511	missense	possibly damaging	0.75
R6798:Trappc10	UTSW	10	78188831	missense	probably benign	0.00
R7205:Trappc10	UTSW	10	78210428	missense	probably damaging	1.00
R7282:Trappc10	UTSW	10	78207493	missense	probably damaging	0.98
R7378:Trappc10	UTSW	10	78193418	missense	probably damaging	0.96
R7384:Trappc10	UTSW	10	78209384	missense	possibly damaging	0.85
R7770:Trappc10	UTSW	10	78210845	missense	probably damaging	0.96
R7829:Trappc10	UTSW	10	78199075	missense	probably benign
R7839:Trappc10	UTSW	10	78188812	missense	possibly damaging	0.84
R8298:Trappc10	UTSW	10	78202919	missense	probably damaging	1.00
R8306:Trappc10	UTSW	10	78200626	missense	possibly damaging	0.54
R8814:Trappc10	UTSW	10	78202919	missense	probably damaging	1.00
R9035:Trappc10	UTSW	10	78207889	unclassified	probably benign
R9075:Trappc10	UTSW	10	78204296	missense	possibly damaging	0.77
R9112:Trappc10	UTSW	10	78193367	missense	probably damaging	0.99
R9182:Trappc10	UTSW	10	78214630	missense	probably damaging	1.00
R9444:Trappc10	UTSW	10	78197778	missense	probably benign	0.10
R9801:Trappc10	UTSW	10	78209429	missense	probably benign	0.00
Z1177:Trappc10	UTSW	10	78217153	missense	probably damaging	1.00

Posted On

2016-08-02