Mutagenetix > Incidental Mutation

Incidental Mutation 'R6403:Trappc8'

516237

Institutional Source

Beutler Lab

Gene Symbol

Trappc8

Ensembl Gene

ENSMUSG00000033382

Gene Name

trafficking protein particle complex 8

Synonyms

5033403J15Rik, D030074E01Rik, Trs85

MMRRC Submission

044382-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R6403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20950280-21029150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20999128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 333 (V333A)

Ref Sequence

ENSEMBL: ENSMUSP00000153183 (fasta)

Gene Model

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

AlphaFold

A0A286YCX6

Predicted Effect

probably benign
Transcript: ENSMUST00000025177
AA Change: V334A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382
AA Change: V334A

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
AA Change: V334A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095262
Gene: ENSMUSG00000033382
AA Change: V334A

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 benign
Transcript: ENSMUST00000225661
AA Change: V333A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,768,881 (GRCm39)	D227G	possibly damaging	Het
Aox1	A	G	1: 58,107,594 (GRCm39)	I623V	probably damaging	Het
Camsap2	G	A	1: 136,208,538 (GRCm39)	R317*	probably null	Het
Carmil1	G	A	13: 24,265,950 (GRCm39)	R271C	probably damaging	Het
Ces2b	T	A	8: 105,562,901 (GRCm39)	L323*	probably null	Het
Copb1	T	A	7: 113,837,686 (GRCm39)	I286F	probably damaging	Het
Dnajb11	T	A	16: 22,689,691 (GRCm39)	V285D	probably damaging	Het
Dok5	G	T	2: 170,671,820 (GRCm39)	A79S	probably damaging	Het
Enpp2	T	C	15: 54,727,160 (GRCm39)	N557S	probably damaging	Het
Hexa	G	A	9: 59,464,644 (GRCm39)	R178H	probably damaging	Het
Iars1	T	C	13: 49,840,971 (GRCm39)	S35P	probably damaging	Het
Il3ra	G	T	14: 14,347,137 (GRCm38)	A3S	probably damaging	Het
Iqcm	T	C	8: 76,304,624 (GRCm39)		probably null	Het
Krt9	G	T	11: 100,080,485 (GRCm39)	S420R	probably damaging	Het
Lca5l	T	C	16: 95,975,045 (GRCm39)	N293S	probably benign	Het
Mb21d2	A	G	16: 28,647,269 (GRCm39)	I235T	possibly damaging	Het
Ncbp3	A	G	11: 72,969,802 (GRCm39)	T550A	probably benign	Het
Nckipsd	G	T	9: 108,688,882 (GRCm39)	R139L	possibly damaging	Het
Nxn	A	G	11: 76,289,846 (GRCm39)	V14A	probably benign	Het
Or8d2b	T	C	9: 38,788,538 (GRCm39)	L22P	probably damaging	Het
Pramel22	G	A	4: 143,382,343 (GRCm39)	Q118*	probably null	Het
Rprd2	C	A	3: 95,673,399 (GRCm39)	C668F	possibly damaging	Het
Tmem87a	A	T	2: 120,211,252 (GRCm39)	M231K	possibly damaging	Het
Trit1	C	A	4: 122,933,372 (GRCm39)	T103K	possibly damaging	Het
Tspan13	A	G	12: 36,065,704 (GRCm39)	F203S	probably damaging	Het
Vmn2r114	C	T	17: 23,528,939 (GRCm39)	D388N	probably damaging	Het
Zfp617	C	T	8: 72,683,015 (GRCm39)	A55V	probably benign	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
R2294:Trappc8	UTSW	18	20,999,211 (GRCm39)	nonsense	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
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'- GGGCTCAGGAGAACTTCATCAC -3'
(R):5'- CTGTTGCATTCTGAAAGTAAAGGAG -3'

Sequencing Primer
(F):5'- CGTCTTACCTGATCATTTAACTG -3'
(R):5'- AGAGATTTGTTTTTCAGTAGATGGCC -3'

Posted On

2018-05-04