Mutagenetix > Incidental Mutation

Incidental Mutation 'R0506:Trappc8'

47628

Institutional Source

Beutler Lab

Gene Symbol

Trappc8

Ensembl Gene

ENSMUSG00000033382

Gene Name

trafficking protein particle complex 8

Synonyms

D030074E01Rik, Trs85, 5033403J15Rik

MMRRC Submission

038701-MU

Accession Numbers

Genbank: NM_029491; MGI: 2443008

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R0506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20817223-20896093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20844188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 841 (N841K)

Ref Sequence

ENSEMBL: ENSMUSP00000153183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025177] [ENSMUST00000097658] [ENSMUST00000225661]

AlphaFold

A0A286YCX6

Predicted Effect

probably benign
Transcript: ENSMUST00000025177
AA Change: N842K

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382
AA Change: N842K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097658

SMART Domains

Protein: ENSMUSP00000095262
Gene: ENSMUSG00000033382

Domain	Start	End	E-Value	Type
Pfam:TRAPPC-Trs85	152	605	9.3e-135	PFAM
low complexity region	769	777	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223584

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225661
AA Change: N841K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.0708

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (100/100)

Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,538,096	C378*	probably null	Het
Ago3	T	C	4: 126,417,252	D56G	possibly damaging	Het
Ahnak	G	T	19: 9,009,128	G2592V	probably damaging	Het
Aldh6a1	C	T	12: 84,433,526	G470D	probably damaging	Het
Ankub1	T	A	3: 57,690,375	N58I	probably damaging	Het
Apol7b	G	T	15: 77,425,528	T23K	probably benign	Het
Arap2	G	A	5: 62,606,131	P1557S	possibly damaging	Het
Arhgap24	T	C	5: 102,875,777	Y136H	probably damaging	Het
Atp1a1	A	G	3: 101,589,812	F393L	probably damaging	Het
Bcdin3d	A	T	15: 99,470,992	C109S	probably damaging	Het
Catsperd	A	G	17: 56,658,078	K475R	possibly damaging	Het
Cblb	A	G	16: 52,204,480	T913A	probably benign	Het
Cbx6	A	G	15: 79,828,203	L341P	probably benign	Het
Cd177	T	C	7: 24,758,356	Y159C	probably damaging	Het
Cdh7	A	G	1: 110,100,114	N530D	probably damaging	Het
Cdk8	T	C	5: 146,298,872	F270L	probably damaging	Het
Ces2c	A	T	8: 104,848,024	T38S	probably damaging	Het
Chst14	T	C	2: 118,927,721	L357P	probably damaging	Het
Clca3b	T	A	3: 144,822,866		probably benign	Het
Cluh	A	G	11: 74,664,894	S839G	probably benign	Het
Cnga4	T	A	7: 105,407,740	V350E	probably damaging	Het
Creb1	G	A	1: 64,570,267	G180R	probably damaging	Het
Csmd3	T	C	15: 48,457,511	E301G	probably benign	Het
Cyp4f18	A	T	8: 71,996,000	D268E	probably benign	Het
Dock5	A	G	14: 67,784,792		probably benign	Het
Dpy19l4	T	A	4: 11,289,715	H332L	probably benign	Het
Dync2h1	T	A	9: 7,113,153	H224L	probably benign	Het
Dzip1l	C	A	9: 99,663,081	Q585K	possibly damaging	Het
Erf	C	T	7: 25,244,376	G510D	probably damaging	Het
Fanci	T	C	7: 79,432,178	L623P	probably benign	Het
Fat1	T	C	8: 45,022,951	V1655A	probably damaging	Het
Fat4	T	C	3: 38,888,314	V452A	probably benign	Het
Gal3st4	C	T	5: 138,265,889	G283S	probably benign	Het
Gm5422	A	G	10: 31,250,322		noncoding transcript	Het
Gnal	C	T	18: 67,088,673	T49I	unknown	Het
Gng5	A	G	3: 146,503,348	N57S	probably damaging	Het
Herc1	A	G	9: 66,448,159	I2231V	probably damaging	Het
Hgfac	G	T	5: 35,044,240	G272W	probably damaging	Het
Hmcn1	T	A	1: 150,742,341	D1265V	possibly damaging	Het
Ifi207	T	A	1: 173,736,312	Q47L	possibly damaging	Het
Klhl40	G	A	9: 121,778,067	E98K	probably damaging	Het
Lepr	G	T	4: 101,773,010		probably benign	Het
Lyst	A	G	13: 13,638,015	H1004R	probably benign	Het
Map3k1	T	A	13: 111,755,764	R986*	probably null	Het
Mmp1b	C	A	9: 7,387,013	Q66H	possibly damaging	Het
Mpo	T	C	11: 87,803,504	S107P	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Myo7b	A	G	18: 31,964,386		probably null	Het
Myom1	T	C	17: 71,092,220		probably benign	Het
Nalcn	C	T	14: 123,596,614	V50I	possibly damaging	Het
Negr1	A	G	3: 157,160,748		probably benign	Het
Nlrc5	T	G	8: 94,493,125		probably benign	Het
Nyap2	G	A	1: 81,087,312	D14N	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr1490	T	A	19: 13,654,897	I151N	possibly damaging	Het
Olfr91	C	A	17: 37,093,311	G188W	probably damaging	Het
Parp14	A	T	16: 35,841,409	S1419T	possibly damaging	Het
Piezo2	A	G	18: 63,027,544	F2347S	probably damaging	Het
Pigf	A	G	17: 87,008,909	V147A	probably benign	Het
Pkhd1	A	T	1: 20,559,469	M637K	probably benign	Het
Plce1	T	C	19: 38,760,138	I1771T	probably benign	Het
Ppp6c	A	T	2: 39,206,648		probably benign	Het
Prag1	T	C	8: 36,103,700	V479A	possibly damaging	Het
Prss33	A	T	17: 23,835,105	D42E	probably benign	Het
Psmb10	A	G	8: 105,937,545	V64A	possibly damaging	Het
Psmd14	A	G	2: 61,800,063	T306A	probably benign	Het
Psmg1	C	T	16: 95,989,487		probably benign	Het
Rc3h2	A	T	2: 37,376,659		probably null	Het
Reln	C	T	5: 21,920,496	V2730I	probably damaging	Het
Sec24a	A	T	11: 51,743,795	H101Q	probably benign	Het
Selenoi	A	G	5: 30,266,956	N385S	probably benign	Het
Slc24a4	T	C	12: 102,131,623		probably null	Het
Slc4a10	G	A	2: 62,250,533	S338N	probably benign	Het
Slfn3	A	T	11: 83,213,160	T286S	probably damaging	Het
Snx29	A	G	16: 11,395,303	D111G	probably benign	Het
Sp8	T	C	12: 118,848,565	S52P	possibly damaging	Het
Srek1	G	T	13: 103,760,590	T81K	probably damaging	Het
Sry	C	G	Y: 2,662,864	Q265H	unknown	Het
Taf3	A	G	2: 9,940,993	V600A	probably benign	Het
Tatdn2	C	A	6: 113,702,589	D298E	probably benign	Het
Tmem253	A	T	14: 52,017,206		probably benign	Het
Tmem63a	T	A	1: 180,958,049		probably null	Het
Tmprss11b	T	C	5: 86,661,640	D331G	probably damaging	Het
Tor1aip1	T	A	1: 156,007,674	K143*	probably null	Het
Trio	T	C	15: 27,854,963	Q711R	probably benign	Het
Trmt10b	C	A	4: 45,304,306	T114N	probably damaging	Het
Trpv2	C	A	11: 62,582,906	A129D	probably benign	Het
Ttll4	T	G	1: 74,688,618	D846E	probably benign	Het
Ugt2a3	A	G	5: 87,336,649	L172P	possibly damaging	Het
Usp19	T	A	9: 108,494,487	F355Y	probably damaging	Het
Vmn1r209	C	T	13: 22,805,944	G192D	probably damaging	Het
Vmn2r107	T	G	17: 20,357,759	D443E	probably benign	Het
Wee2	A	T	6: 40,463,253	E445V	probably benign	Het
Zer1	A	T	2: 30,101,807	I680N	probably damaging	Het
Zfhx4	T	C	3: 5,402,735	L2651P	probably damaging	Het
Zfp692	C	T	11: 58,309,055	Q157*	probably null	Het
Zfp964	T	A	8: 69,663,937	C396S	unknown	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
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
R1786: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'- ACATATGCTTACACATGCTTAGCTGCC -3'
(R):5'- CCATTGCACTTGGGATTTGCTGAC -3'

Sequencing Primer
(F):5'- gtggatgacaacataacatggg -3'
(R):5'- aaaaaaaaaaaggaaggaaggaagg -3'

Posted On

2013-06-12