Mutagenetix > Incidental Mutation

Incidental Mutation 'R4165:Trappc11'

321695

Institutional Source

Beutler Lab

Gene Symbol

Trappc11

Ensembl Gene

ENSMUSG00000038102

Gene Name

trafficking protein particle complex 11

Synonyms

D030016E14Rik

MMRRC Submission

041007-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47943163-47986505 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 47978003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039061]

AlphaFold

B2RXC1

Predicted Effect

probably benign
Transcript: ENSMUST00000039061

SMART Domains

Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102

Domain	Start	End	E-Value	Type
Pfam:Foie-gras_1	263	522	3e-78	PFAM
Pfam:Gryzun	978	1114	3.9e-10	PFAM
Pfam:Gryzun-like	1036	1095	2.4e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131551

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

97% (38/39)

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 subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,827,044 (GRCm39)	F4I	probably damaging	Het
Adamts8	G	T	9: 30,862,684 (GRCm39)	E296D	probably benign	Het
Alg11	T	C	8: 22,555,573 (GRCm39)	V278A	probably damaging	Het
Ankfy1	G	A	11: 72,605,310 (GRCm39)		probably null	Het
Avil	C	T	10: 126,842,496 (GRCm39)	Q92*	probably null	Het
Cfap300	A	T	9: 8,026,071 (GRCm39)	L167Q	probably damaging	Het
CK137956	A	T	4: 127,864,522 (GRCm39)	S36T	possibly damaging	Het
Epb41l3	T	C	17: 69,514,883 (GRCm39)	S7P	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fsd2	T	C	7: 81,195,608 (GRCm39)	T434A	probably damaging	Het
Gm5174	A	G	10: 86,492,797 (GRCm39)		noncoding transcript	Het
Gpaa1	A	C	15: 76,216,667 (GRCm39)		probably benign	Het
Grina	T	A	15: 76,133,529 (GRCm39)	L334Q	probably damaging	Het
Gvin-ps5	T	A	7: 105,929,895 (GRCm39)		noncoding transcript	Het
Igkv15-103	G	T	6: 68,414,824 (GRCm39)	G88*	probably null	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kdm3b	A	T	18: 34,928,797 (GRCm39)	I183F	probably benign	Het
Kyat3	A	G	3: 142,432,066 (GRCm39)		probably null	Het
Larp7	A	G	3: 127,330,611 (GRCm39)	Y569H	probably benign	Het
Loxhd1	A	T	18: 77,460,025 (GRCm39)	I758F	probably damaging	Het
Nr1d2	T	C	14: 18,215,446 (GRCm38)	I189V	probably benign	Het
Odad2	A	T	18: 7,217,008 (GRCm39)	I668K	probably damaging	Het
Pcdhb19	T	A	18: 37,632,243 (GRCm39)	N679K	probably benign	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prap1	T	A	7: 139,676,091 (GRCm39)	V35E	probably benign	Het
Prdm1	T	A	10: 44,317,572 (GRCm39)	Y417F	probably benign	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rps3	T	C	7: 99,132,816 (GRCm39)	I5V	probably benign	Het
Sema3a	A	T	5: 13,523,364 (GRCm39)		probably null	Het
Serpina3g	A	T	12: 104,206,546 (GRCm39)	T116S	probably benign	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Slc22a28	A	G	19: 8,040,773 (GRCm39)	S493P	possibly damaging	Het
Snapc1	G	T	12: 74,029,354 (GRCm39)		probably null	Het
Sobp	C	T	10: 42,897,644 (GRCm39)	G647D	probably damaging	Het
Tomm22	C	A	15: 79,555,206 (GRCm39)		probably benign	Het
Txnl4a	T	A	18: 80,265,471 (GRCm39)	M112K	probably benign	Het
Vmn2r16	T	C	5: 109,478,427 (GRCm39)	F61L	possibly damaging	Het
Zfp709	C	T	8: 72,644,649 (GRCm39)	Q693*	probably null	Het

Other mutations in Trappc11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Trappc11	APN	8	47,956,337 (GRCm39)	unclassified	probably benign
IGL01300:Trappc11	APN	8	47,954,903 (GRCm39)	missense	probably benign
IGL01312:Trappc11	APN	8	47,958,712 (GRCm39)	missense	possibly damaging	0.95
IGL01344:Trappc11	APN	8	47,972,739 (GRCm39)	missense	probably damaging	1.00
IGL01518:Trappc11	APN	8	47,954,904 (GRCm39)	splice site	probably null
IGL01747:Trappc11	APN	8	47,972,656 (GRCm39)	missense	probably benign	0.41
IGL01781:Trappc11	APN	8	47,967,163 (GRCm39)	missense	possibly damaging	0.95
IGL01908:Trappc11	APN	8	47,957,029 (GRCm39)	missense	probably damaging	1.00
IGL01956:Trappc11	APN	8	47,981,036 (GRCm39)	missense	possibly damaging	0.86
IGL02266:Trappc11	APN	8	47,958,766 (GRCm39)	missense	probably damaging	1.00
IGL02377:Trappc11	APN	8	47,983,685 (GRCm39)	critical splice donor site	probably null
IGL02530:Trappc11	APN	8	47,960,617 (GRCm39)	missense	probably damaging	1.00
IGL02676:Trappc11	APN	8	47,946,448 (GRCm39)	splice site	probably benign
IGL03030:Trappc11	APN	8	47,966,964 (GRCm39)	missense	probably damaging	0.98
IGL03393:Trappc11	APN	8	47,963,912 (GRCm39)	missense	possibly damaging	0.95
bantu	UTSW	8	47,951,701 (GRCm39)	missense	probably benign	0.44
bunyoro	UTSW	8	47,965,320 (GRCm39)	splice site	probably null
nyoro	UTSW	8	47,980,014 (GRCm39)	missense	possibly damaging	0.73
serval	UTSW	8	47,957,000 (GRCm39)	missense	probably damaging	1.00
R0009:Trappc11	UTSW	8	47,956,355 (GRCm39)	missense	possibly damaging	0.70
R0009:Trappc11	UTSW	8	47,956,355 (GRCm39)	missense	possibly damaging	0.70
R0043:Trappc11	UTSW	8	47,958,610 (GRCm39)	splice site	probably benign
R0180:Trappc11	UTSW	8	47,981,009 (GRCm39)	missense	possibly damaging	0.86
R0529:Trappc11	UTSW	8	47,980,014 (GRCm39)	missense	possibly damaging	0.73
R0538:Trappc11	UTSW	8	47,956,447 (GRCm39)	missense	probably benign	0.01
R0740:Trappc11	UTSW	8	47,977,623 (GRCm39)	missense	probably damaging	0.99
R1352:Trappc11	UTSW	8	47,978,081 (GRCm39)	missense	possibly damaging	0.90
R1469:Trappc11	UTSW	8	47,957,000 (GRCm39)	missense	probably damaging	1.00
R1469:Trappc11	UTSW	8	47,957,000 (GRCm39)	missense	probably damaging	1.00
R1502:Trappc11	UTSW	8	47,983,862 (GRCm39)	missense	possibly damaging	0.94
R1589:Trappc11	UTSW	8	47,954,715 (GRCm39)	missense	probably damaging	1.00
R1741:Trappc11	UTSW	8	47,982,362 (GRCm39)	critical splice donor site	probably null
R2292:Trappc11	UTSW	8	47,958,771 (GRCm39)	missense	probably damaging	1.00
R2303:Trappc11	UTSW	8	47,956,451 (GRCm39)	missense	probably damaging	0.99
R2931:Trappc11	UTSW	8	47,956,977 (GRCm39)	missense	probably damaging	0.99
R3522:Trappc11	UTSW	8	47,951,708 (GRCm39)	missense	possibly damaging	0.93
R3714:Trappc11	UTSW	8	47,958,351 (GRCm39)	intron	probably benign
R3739:Trappc11	UTSW	8	47,967,138 (GRCm39)	missense	probably damaging	0.98
R4581:Trappc11	UTSW	8	47,946,380 (GRCm39)	missense	probably damaging	0.97
R4598:Trappc11	UTSW	8	47,966,801 (GRCm39)	missense	probably damaging	0.98
R4939:Trappc11	UTSW	8	47,972,700 (GRCm39)	missense	probably damaging	1.00
R4990:Trappc11	UTSW	8	47,943,930 (GRCm39)	missense	probably benign	0.41
R4994:Trappc11	UTSW	8	47,975,476 (GRCm39)	nonsense	probably null
R5091:Trappc11	UTSW	8	47,965,639 (GRCm39)	missense	probably benign	0.00
R5123:Trappc11	UTSW	8	47,966,437 (GRCm39)	missense	probably damaging	0.99
R5176:Trappc11	UTSW	8	47,963,998 (GRCm39)	missense	possibly damaging	0.79
R5279:Trappc11	UTSW	8	47,958,339 (GRCm39)	intron	probably benign
R5293:Trappc11	UTSW	8	47,946,377 (GRCm39)	missense	possibly damaging	0.83
R5294:Trappc11	UTSW	8	47,983,766 (GRCm39)	missense	possibly damaging	0.88
R5661:Trappc11	UTSW	8	47,965,642 (GRCm39)	missense	probably damaging	0.99
R5838:Trappc11	UTSW	8	47,965,594 (GRCm39)	critical splice donor site	probably null
R5889:Trappc11	UTSW	8	47,972,613 (GRCm39)	missense	probably benign	0.40
R5952:Trappc11	UTSW	8	47,949,952 (GRCm39)	critical splice donor site	probably null
R5959:Trappc11	UTSW	8	47,954,593 (GRCm39)	missense	probably damaging	0.97
R6239:Trappc11	UTSW	8	47,982,529 (GRCm39)	missense	possibly damaging	0.73
R6322:Trappc11	UTSW	8	47,983,808 (GRCm39)	missense	possibly damaging	0.95
R6369:Trappc11	UTSW	8	47,965,320 (GRCm39)	splice site	probably null
R7541:Trappc11	UTSW	8	47,958,617 (GRCm39)	splice site	probably null
R7544:Trappc11	UTSW	8	47,975,449 (GRCm39)	missense	possibly damaging	0.73
R7762:Trappc11	UTSW	8	47,975,411 (GRCm39)	missense	probably damaging	0.99
R7964:Trappc11	UTSW	8	47,979,979 (GRCm39)	missense	possibly damaging	0.54
R8183:Trappc11	UTSW	8	47,982,391 (GRCm39)	missense	possibly damaging	0.93
R8282:Trappc11	UTSW	8	47,969,624 (GRCm39)	missense	probably damaging	0.97
R8733:Trappc11	UTSW	8	47,954,883 (GRCm39)	missense	probably damaging	1.00
R8782:Trappc11	UTSW	8	47,951,701 (GRCm39)	missense	probably benign	0.44
R8853:Trappc11	UTSW	8	47,982,439 (GRCm39)	missense	probably damaging	0.98
R9544:Trappc11	UTSW	8	47,972,713 (GRCm39)	missense	possibly damaging	0.94
R9709:Trappc11	UTSW	8	47,946,348 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCTTCCAAGAGCTCTTACAGG -3'
(R):5'- CAGTTCTCAACAAATGCTGCTC -3'

Sequencing Primer
(F):5'- CTTACAGGTAAGAGTGTGAAAGTAAG -3'
(R):5'- AATGCTGCTCTTAAAATCACTCTGC -3'

Posted On

2015-06-12