Mutagenetix > Incidental Mutation

Incidental Mutation 'R1786:Trappc8'

202870

Institutional Source

Beutler Lab

Gene Symbol

Trappc8

Ensembl Gene

ENSMUSG00000033382

Gene Name

trafficking protein particle complex 8

Synonyms

D030074E01Rik, Trs85, 5033403J15Rik

MMRRC Submission

039817-MU

Accession Numbers

Genbank: NM_029491; MGI: 2443008

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R1786 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20817223-20896093 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 20834940 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025177] [ENSMUST00000225661]

AlphaFold

A0A286YCX6

Predicted Effect

probably null
Transcript: ENSMUST00000025177

SMART Domains

Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382

Domain	Start	End	E-Value	Type
Pfam:TRAPPC-Trs85	157	604	1e-167	PFAM
low complexity region	769	777	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225502

Predicted Effect

probably null
Transcript: ENSMUST00000225661

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (98/101)

Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149	C656S	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260	N178I	probably damaging	Het
Abcc4	G	A	14: 118,553,349	R749C	probably damaging	Het
Acot11	T	C	4: 106,762,035	E201G	probably damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Aldh4a1	T	C	4: 139,644,128	V451A	probably benign	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Asb6	G	A	2: 30,827,076	R46W	probably damaging	Het
Bpifb6	T	C	2: 153,906,861	F259S	probably damaging	Het
Cad	T	A	5: 31,058,072	F76I	probably damaging	Het
Camk2b	T	C	11: 5,977,880	E390G	probably benign	Het
Cars	C	A	7: 143,592,474	R71M	probably damaging	Het
Ccdc170	T	G	10: 4,519,043	I197S	probably benign	Het
Cdc20b	A	T	13: 113,081,134	K362N	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Cpd	T	C	11: 76,792,798	D1045G	probably benign	Het
Crocc	T	C	4: 141,021,802	D1564G	probably damaging	Het
Csf1r	A	T	18: 61,129,077	M802L	probably damaging	Het
Dctn4	T	C	18: 60,546,335		probably null	Het
Dnah5	A	G	15: 28,313,786	Q1916R	probably damaging	Het
Dpysl2	A	G	14: 66,862,665		probably benign	Het
Dync2h1	A	G	9: 7,081,084	Y2871H	probably damaging	Het
Fam221b	T	A	4: 43,665,537	H307L	probably damaging	Het
Foxn4	C	T	5: 114,263,132	D37N	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gm9797	T	C	10: 11,609,325		noncoding transcript	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Gper1	C	T	5: 139,426,722	P274L	probably damaging	Het
Gpr132	A	G	12: 112,852,403	S268P	probably damaging	Het
Gtpbp2	T	C	17: 46,161,202	M21T	probably benign	Het
Hivep1	C	T	13: 42,183,786	A2447V	possibly damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Kcnh8	T	C	17: 52,893,933	V465A	probably damaging	Het
Kif5c	T	A	2: 49,758,805		probably benign	Het
Kmt2a	G	A	9: 44,819,675		probably benign	Het
Lhx6	G	T	2: 36,087,458	C327*	probably null	Het
Lifr	A	G	15: 7,181,856	D625G	possibly damaging	Het
Llgl1	T	C	11: 60,707,240	V370A	probably benign	Het
Lman1	A	T	18: 65,991,582	M362K	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Lpin3	T	A	2: 160,896,809	L227*	probably null	Het
Ltv1	C	G	10: 13,182,536		probably benign	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mettl17	A	T	14: 51,888,735		probably benign	Het
Mnx1	T	A	5: 29,474,189	S299C	unknown	Het
Mov10	A	T	3: 104,818,116	I59N	possibly damaging	Het
Myo7b	T	C	18: 31,994,897	I581V	probably benign	Het
Ncdn	T	A	4: 126,745,273		probably null	Het
Ndufa4	A	T	6: 11,900,575	V37E	probably benign	Het
Nhsl1	T	G	10: 18,524,664	L546R	probably benign	Het
Nop9	T	C	14: 55,751,142	L347P	probably damaging	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,477,935		probably benign	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr372	A	G	8: 72,058,436	Y252C	probably damaging	Het
Olfr968	A	T	9: 39,772,495	C102S	probably benign	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Pard6g	T	C	18: 80,117,308	V212A	probably damaging	Het
Pknox2	A	G	9: 36,909,684	V294A	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Ptgdr	A	T	14: 44,858,579	Y225*	probably null	Het
Ptpn22	A	G	3: 103,874,052	I90V	probably damaging	Het
Pygb	C	T	2: 150,816,772	T372I	probably damaging	Het
Pzp	T	C	6: 128,491,161		probably null	Het
Qrich2	C	T	11: 116,441,449	G2307D	probably damaging	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Slfn9	T	A	11: 82,981,307	I868F	probably damaging	Het
St3gal6	T	C	16: 58,475,871	D137G	probably damaging	Het
Synj1	G	T	16: 90,964,517	A687D	probably damaging	Het
Syt4	A	G	18: 31,443,443		probably benign	Het
Tacc1	A	T	8: 25,164,493	N271K	probably damaging	Het
Tdrd6	T	C	17: 43,624,833	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tmem200a	T	A	10: 25,993,927	H148L	probably damaging	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ubr4	T	A	4: 139,423,945	M1897K	probably damaging	Het
Uggt2	A	G	14: 119,061,376	L391P	probably damaging	Het
Uncx	T	C	5: 139,547,547	S456P	probably benign	Het
Vps13b	A	G	15: 35,879,791	Y3004C	probably damaging	Het
Wisp1	G	A	15: 66,906,489	C53Y	probably damaging	Het
Zbtb46	C	T	2: 181,391,431	C479Y	probably damaging	Het
Zc3h7a	A	T	16: 11,150,605	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,824,644	L548Q	possibly damaging	Het
Zfp236	T	C	18: 82,621,304	M1225V	probably benign	Het
Zfp280d	T	C	9: 72,308,005	F133L	probably damaging	Het
Zfp503	A	T	14: 21,985,520	C443S	possibly damaging	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly damaging	Het

Other mutations in Trappc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Trappc8	APN	18	20836978	missense	probably benign	0.20
IGL01367:Trappc8	APN	18	20866119	missense	probably benign	0.01
IGL01537:Trappc8	APN	18	20835004	missense	probably benign
IGL01563:Trappc8	APN	18	20837046	missense	probably benign	0.00
IGL01982:Trappc8	APN	18	20874712	splice site	probably benign
IGL02709:Trappc8	APN	18	20837178	missense	possibly damaging	0.94
IGL03126:Trappc8	APN	18	20863595	missense	probably damaging	1.00
IGL03290:Trappc8	APN	18	20820935	missense	probably damaging	1.00
IGL03348:Trappc8	APN	18	20852781	missense	probably damaging	1.00
hoppa	UTSW	18	20836900	missense	probably benign	0.05
Lagomorpha	UTSW	18	20818190	missense	probably benign	0.11
rabbit	UTSW	18	20874680	missense	probably damaging	1.00
E7848:Trappc8	UTSW	18	20850918	missense	probably damaging	0.99
R0483:Trappc8	UTSW	18	20845601	missense	possibly damaging	0.60
R0492:Trappc8	UTSW	18	20866186	missense	probably benign	0.07
R0506:Trappc8	UTSW	18	20844188	missense	possibly damaging	0.49
R0610:Trappc8	UTSW	18	20837188	missense	probably damaging	1.00
R0892:Trappc8	UTSW	18	20831608	critical splice donor site	probably null
R1561:Trappc8	UTSW	18	20841623	nonsense	probably null
R1589:Trappc8	UTSW	18	20863551	missense	probably damaging	1.00
R1700:Trappc8	UTSW	18	20832998	missense	probably damaging	1.00
R1785:Trappc8	UTSW	18	20834940	splice site	probably null
R1989:Trappc8	UTSW	18	20845651	missense	probably benign	0.04
R2181:Trappc8	UTSW	18	20819222	critical splice donor site	probably null
R2294:Trappc8	UTSW	18	20866154	nonsense	probably null
R4551:Trappc8	UTSW	18	20874672	missense	probably benign	0.10
R4594:Trappc8	UTSW	18	20836948	missense	probably benign
R4631:Trappc8	UTSW	18	20867808	missense	probably benign	0.22
R4734:Trappc8	UTSW	18	20841572	nonsense	probably null
R4834:Trappc8	UTSW	18	20825065	missense	probably damaging	0.99
R5114:Trappc8	UTSW	18	20844180	missense	probably benign	0.04
R5262:Trappc8	UTSW	18	20818190	missense	probably benign	0.11
R5384:Trappc8	UTSW	18	20833062	splice site	probably null
R5476:Trappc8	UTSW	18	20865108	missense	probably damaging	1.00
R5503:Trappc8	UTSW	18	20836900	missense	probably benign	0.05
R5577:Trappc8	UTSW	18	20836779	nonsense	probably null
R5809:Trappc8	UTSW	18	20818082	missense	probably benign	0.08
R5825:Trappc8	UTSW	18	20873920	missense	probably damaging	1.00
R5886:Trappc8	UTSW	18	20874680	missense	probably damaging	1.00
R5936:Trappc8	UTSW	18	20874688	missense	probably damaging	1.00
R6024:Trappc8	UTSW	18	20833009	missense	probably damaging	0.98
R6105:Trappc8	UTSW	18	20846447	critical splice donor site	probably null
R6229:Trappc8	UTSW	18	20870745	missense	probably benign	0.00
R6376:Trappc8	UTSW	18	20837075	missense	probably benign	0.07
R6403:Trappc8	UTSW	18	20866071	missense	probably benign
R6459:Trappc8	UTSW	18	20836868	missense	probably benign	0.40
R6673:Trappc8	UTSW	18	20885257	missense	probably benign	0.01
R7041:Trappc8	UTSW	18	20874672	missense	probably benign	0.10
R7276:Trappc8	UTSW	18	20818091	missense	probably damaging	0.99
R7341:Trappc8	UTSW	18	20852647	missense	probably damaging	1.00
R7684:Trappc8	UTSW	18	20863502	missense	probably benign	0.01
R7702:Trappc8	UTSW	18	20825062	missense	probably damaging	0.99
R8210:Trappc8	UTSW	18	20873881	critical splice donor site	probably null
R8958:Trappc8	UTSW	18	20870610	missense	probably benign	0.02
R9037:Trappc8	UTSW	18	20828482	missense	probably benign	0.00
R9217:Trappc8	UTSW	18	20867765	missense	probably benign	0.01
R9246:Trappc8	UTSW	18	20860533	missense	possibly damaging	0.64
R9623:Trappc8	UTSW	18	20850918	missense	possibly damaging	0.91
R9766:Trappc8	UTSW	18	20846573	missense	possibly damaging	0.68
X0065:Trappc8	UTSW	18	20860522	missense	probably benign	0.03
Z1177:Trappc8	UTSW	18	20831663	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GTACCATACTATTACCAGCAGATCC -3'
(R):5'- GGAATCCTGGAAGTTACGGTG -3'

Sequencing Primer
(F):5'- ATACTATTACCAGCAGATCCTTTCAC -3'
(R):5'- AATCCTGGAAGTTACGGTGTTTCTG -3'

Posted On

2014-06-23