Mutagenetix > Incidental Mutation

Incidental Mutation 'R2294:Trappc8'

245120

Institutional Source

Beutler Lab

Gene Symbol

Trappc8

Ensembl Gene

ENSMUSG00000033382

Gene Name

trafficking protein particle complex 8

Synonyms

5033403J15Rik, D030074E01Rik, Trs85

MMRRC Submission

040293-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R2294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20950280-21029150 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 20999211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 305 (C305*)

Ref Sequence

ENSEMBL: ENSMUSP00000153183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025177] [ENSMUST00000097658] [ENSMUST00000224530] [ENSMUST00000225661]

AlphaFold

A0A286YCX6

Predicted Effect

probably null
Transcript: ENSMUST00000025177
AA Change: C306*

SMART Domains

Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382
AA Change: C306*

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 null
Transcript: ENSMUST00000097658
AA Change: C306*

SMART Domains

Protein: ENSMUSP00000095262
Gene: ENSMUSG00000033382
AA Change: C306*

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

probably benign
Transcript: ENSMUST00000224530

Predicted Effect

probably null
Transcript: ENSMUST00000225661
AA Change: C305*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (30/30)

Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	C	T	15: 98,495,322 (GRCm39)	V673I	possibly damaging	Het
Bsn	C	T	9: 107,990,266 (GRCm39)	A1829T	possibly damaging	Het
Chchd3	T	C	6: 32,829,122 (GRCm39)	E166G	probably damaging	Het
Chrna7	A	T	7: 62,760,172 (GRCm39)	S135T	probably benign	Het
Dxo	G	A	17: 35,057,962 (GRCm39)		probably null	Het
Fbxw18	A	G	9: 109,505,865 (GRCm39)	S469P	probably damaging	Het
G3bp2	G	A	5: 92,205,887 (GRCm39)	R290C	probably damaging	Het
Hydin	T	C	8: 111,026,591 (GRCm39)	L103P	probably damaging	Het
Lrig3	C	T	10: 125,802,363 (GRCm39)	R7*	probably null	Het
Lrp6	A	G	6: 134,434,705 (GRCm39)	C1333R	probably damaging	Het
Luzp2	T	C	7: 54,821,938 (GRCm39)		probably benign	Het
Lypd8	A	T	11: 58,277,680 (GRCm39)	N154I	probably damaging	Het
Ndufs1	A	T	1: 63,200,155 (GRCm39)	D252E	probably damaging	Het
Nos3	T	A	5: 24,569,855 (GRCm39)	V7E	probably damaging	Het
Or1e33	A	G	11: 73,738,312 (GRCm39)	L213P	probably damaging	Het
Osbpl6	A	T	2: 76,407,423 (GRCm39)	D446V	possibly damaging	Het
Pik3c2b	C	A	1: 132,994,513 (GRCm39)	P159H	probably damaging	Het
Pkhd1l1	C	T	15: 44,343,003 (GRCm39)	T160I	probably damaging	Het
Prelid3a	C	T	18: 67,605,941 (GRCm39)	T16M	probably damaging	Het
Prl7b1	A	T	13: 27,786,854 (GRCm39)	M125K	possibly damaging	Het
Rars1	C	A	11: 35,708,363 (GRCm39)		probably benign	Het
Ripk1	A	G	13: 34,200,991 (GRCm39)	T235A	probably benign	Het
Slc38a2	C	A	15: 96,589,643 (GRCm39)	V363L	probably benign	Het
Slc6a21	G	A	7: 44,929,952 (GRCm39)	A147T	possibly damaging	Het
Tgfb3	T	C	12: 86,116,684 (GRCm39)	N118S	probably benign	Het
Tmem175	T	C	5: 108,786,525 (GRCm39)		probably benign	Het
Tmem232	A	T	17: 65,757,436 (GRCm39)	N252K	probably benign	Het
Tyro3	T	C	2: 119,636,126 (GRCm39)	V223A	probably damaging	Het
Yipf2	C	T	9: 21,501,177 (GRCm39)	V74M	probably damaging	Het

Other mutations in Trappc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01077:Trappc8	APN	18	20,970,035 (GRCm39)	missense	probably benign	0.20
IGL01367:Trappc8	APN	18	20,999,176 (GRCm39)	missense	probably benign	0.01
IGL01537:Trappc8	APN	18	20,968,061 (GRCm39)	missense	probably benign
IGL01563:Trappc8	APN	18	20,970,103 (GRCm39)	missense	probably benign	0.00
IGL01982:Trappc8	APN	18	21,007,769 (GRCm39)	splice site	probably benign
IGL02709:Trappc8	APN	18	20,970,235 (GRCm39)	missense	possibly damaging	0.94
IGL03126:Trappc8	APN	18	20,996,652 (GRCm39)	missense	probably damaging	1.00
IGL03290:Trappc8	APN	18	20,953,992 (GRCm39)	missense	probably damaging	1.00
IGL03348:Trappc8	APN	18	20,985,838 (GRCm39)	missense	probably damaging	1.00
hoppa	UTSW	18	20,969,957 (GRCm39)	missense	probably benign	0.05
Lagomorpha	UTSW	18	20,951,247 (GRCm39)	missense	probably benign	0.11
rabbit	UTSW	18	21,007,737 (GRCm39)	missense	probably damaging	1.00
E7848:Trappc8	UTSW	18	20,983,975 (GRCm39)	missense	probably damaging	0.99
R0483:Trappc8	UTSW	18	20,978,658 (GRCm39)	missense	possibly damaging	0.60
R0492:Trappc8	UTSW	18	20,999,243 (GRCm39)	missense	probably benign	0.07
R0506:Trappc8	UTSW	18	20,977,245 (GRCm39)	missense	possibly damaging	0.49
R0610:Trappc8	UTSW	18	20,970,245 (GRCm39)	missense	probably damaging	1.00
R0892:Trappc8	UTSW	18	20,964,665 (GRCm39)	critical splice donor site	probably null
R1561:Trappc8	UTSW	18	20,974,680 (GRCm39)	nonsense	probably null
R1589:Trappc8	UTSW	18	20,996,608 (GRCm39)	missense	probably damaging	1.00
R1700:Trappc8	UTSW	18	20,966,055 (GRCm39)	missense	probably damaging	1.00
R1785:Trappc8	UTSW	18	20,967,997 (GRCm39)	splice site	probably null
R1786:Trappc8	UTSW	18	20,967,997 (GRCm39)	splice site	probably null
R1989:Trappc8	UTSW	18	20,978,708 (GRCm39)	missense	probably benign	0.04
R2181:Trappc8	UTSW	18	20,952,279 (GRCm39)	critical splice donor site	probably null
R4551:Trappc8	UTSW	18	21,007,729 (GRCm39)	missense	probably benign	0.10
R4594:Trappc8	UTSW	18	20,970,005 (GRCm39)	missense	probably benign
R4631:Trappc8	UTSW	18	21,000,865 (GRCm39)	missense	probably benign	0.22
R4734:Trappc8	UTSW	18	20,974,629 (GRCm39)	nonsense	probably null
R4834:Trappc8	UTSW	18	20,958,122 (GRCm39)	missense	probably damaging	0.99
R5114:Trappc8	UTSW	18	20,977,237 (GRCm39)	missense	probably benign	0.04
R5262:Trappc8	UTSW	18	20,951,247 (GRCm39)	missense	probably benign	0.11
R5384:Trappc8	UTSW	18	20,966,119 (GRCm39)	splice site	probably null
R5476:Trappc8	UTSW	18	20,998,165 (GRCm39)	missense	probably damaging	1.00
R5503:Trappc8	UTSW	18	20,969,957 (GRCm39)	missense	probably benign	0.05
R5577:Trappc8	UTSW	18	20,969,836 (GRCm39)	nonsense	probably null
R5809:Trappc8	UTSW	18	20,951,139 (GRCm39)	missense	probably benign	0.08
R5825:Trappc8	UTSW	18	21,006,977 (GRCm39)	missense	probably damaging	1.00
R5886:Trappc8	UTSW	18	21,007,737 (GRCm39)	missense	probably damaging	1.00
R5936:Trappc8	UTSW	18	21,007,745 (GRCm39)	missense	probably damaging	1.00
R6024:Trappc8	UTSW	18	20,966,066 (GRCm39)	missense	probably damaging	0.98
R6105:Trappc8	UTSW	18	20,979,504 (GRCm39)	critical splice donor site	probably null
R6229:Trappc8	UTSW	18	21,003,802 (GRCm39)	missense	probably benign	0.00
R6376:Trappc8	UTSW	18	20,970,132 (GRCm39)	missense	probably benign	0.07
R6403:Trappc8	UTSW	18	20,999,128 (GRCm39)	missense	probably benign
R6459:Trappc8	UTSW	18	20,969,925 (GRCm39)	missense	probably benign	0.40
R6673:Trappc8	UTSW	18	21,018,314 (GRCm39)	missense	probably benign	0.01
R7041:Trappc8	UTSW	18	21,007,729 (GRCm39)	missense	probably benign	0.10
R7276:Trappc8	UTSW	18	20,951,148 (GRCm39)	missense	probably damaging	0.99
R7341:Trappc8	UTSW	18	20,985,704 (GRCm39)	missense	probably damaging	1.00
R7684:Trappc8	UTSW	18	20,996,559 (GRCm39)	missense	probably benign	0.01
R7702:Trappc8	UTSW	18	20,958,119 (GRCm39)	missense	probably damaging	0.99
R8210:Trappc8	UTSW	18	21,006,938 (GRCm39)	critical splice donor site	probably null
R8958:Trappc8	UTSW	18	21,003,667 (GRCm39)	missense	probably benign	0.02
R9037:Trappc8	UTSW	18	20,961,539 (GRCm39)	missense	probably benign	0.00
R9217:Trappc8	UTSW	18	21,000,822 (GRCm39)	missense	probably benign	0.01
R9246:Trappc8	UTSW	18	20,993,590 (GRCm39)	missense	possibly damaging	0.64
R9623:Trappc8	UTSW	18	20,983,975 (GRCm39)	missense	possibly damaging	0.91
R9766:Trappc8	UTSW	18	20,979,630 (GRCm39)	missense	possibly damaging	0.68
X0065:Trappc8	UTSW	18	20,993,579 (GRCm39)	missense	probably benign	0.03
Z1177:Trappc8	UTSW	18	20,964,720 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCTATGTGTGGCAAAAGGC -3'
(R):5'- ATGATGCTTCACCTGAGCC -3'

Sequencing Primer
(F):5'- GCCACGGAATGTAAACTCTTG -3'
(R):5'- GCCCTTTAACTTGGAATGGGAAATG -3'

Posted On

2014-10-30