Mutagenetix > Incidental Mutation

Incidental Mutation 'R2303:Trappc11'

244496

Institutional Source

Beutler Lab

Gene Symbol

Trappc11

Ensembl Gene

ENSMUSG00000038102

Gene Name

trafficking protein particle complex 11

Synonyms

D030016E14Rik

MMRRC Submission

040302-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2303 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47943163-47986505 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47956451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 842 (Y842H)

Ref Sequence

ENSEMBL: ENSMUSP00000047562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039061] [ENSMUST00000120987]

AlphaFold

B2RXC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039061
AA Change: Y842H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102
AA Change: Y842H

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

probably benign
Transcript: ENSMUST00000120987

SMART Domains

Protein: ENSMUSP00000113779
Gene: ENSMUSG00000038102

Domain	Start	End	E-Value	Type
Pfam:Gryzun	1	155	4e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125065

Meta Mutation Damage Score

0.3996

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (40/40)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930583I09Rik	T	G	17: 65,141,561 (GRCm39)	D14A	unknown	Het
Aars1	C	A	8: 111,779,134 (GRCm39)	T756K	possibly damaging	Het
Abca9	A	T	11: 110,049,052 (GRCm39)	M252K	probably benign	Het
Acan	A	G	7: 78,749,705 (GRCm39)	E1492G	probably benign	Het
Arid1a	C	A	4: 133,414,562 (GRCm39)	R1223L	unknown	Het
Ash1l	T	C	3: 88,933,733 (GRCm39)	L2003S	probably damaging	Het
Cct8	A	T	16: 87,287,220 (GRCm39)		probably null	Het
Dagla	T	C	19: 10,229,467 (GRCm39)	T598A	probably damaging	Het
Ercc3	A	G	18: 32,378,600 (GRCm39)	I194V	probably benign	Het
Fbxo46	A	G	7: 18,870,541 (GRCm39)	N387D	possibly damaging	Het
Fn1	C	T	1: 71,653,195 (GRCm39)		probably null	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gnrhr	C	T	5: 86,345,608 (GRCm39)	G26D	probably benign	Het
Hmcn1	A	T	1: 150,579,977 (GRCm39)	L1920Q	probably damaging	Het
Kank2	T	A	9: 21,681,061 (GRCm39)	I823F	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Mfsd6	T	A	1: 52,715,672 (GRCm39)	N535I	probably damaging	Het
Mgat5	T	C	1: 127,374,036 (GRCm39)	Y479H	probably benign	Het
Ncoa7	G	A	10: 30,530,431 (GRCm39)	T701I	probably damaging	Het
Or6c2	T	C	10: 129,362,918 (GRCm39)	V274A	probably benign	Het
Pcdh18	T	C	3: 49,709,723 (GRCm39)	R531G	probably damaging	Het
Pcdhb6	A	G	18: 37,469,284 (GRCm39)	H51R	probably damaging	Het
Pdik1l	G	A	4: 134,011,559 (GRCm39)	Q95*	probably null	Het
Ppp4r3b	A	T	11: 29,150,741 (GRCm39)	H469L	possibly damaging	Het
Prnp	A	G	2: 131,779,046 (GRCm39)	T233A	probably benign	Het
Rcan1	T	C	16: 92,190,484 (GRCm39)	T152A	possibly damaging	Het
Sema3g	T	C	14: 30,944,572 (GRCm39)	F329L	probably damaging	Het
Setd1a	G	A	7: 127,398,327 (GRCm39)		probably benign	Het
Slc40a1	G	A	1: 45,950,044 (GRCm39)		probably benign	Het
Slco5a1	C	T	1: 12,949,486 (GRCm39)	G635S	probably damaging	Het
Spg11	C	T	2: 121,899,318 (GRCm39)	C1589Y	probably damaging	Het
Stab1	T	C	14: 30,868,027 (GRCm39)	T1616A	probably damaging	Het
Vwde	T	A	6: 13,215,806 (GRCm39)		probably benign	Het
Zcchc8	A	G	5: 123,838,660 (GRCm39)	L626P	probably benign	Het
Zfhx4	A	G	3: 5,462,120 (GRCm39)	H1240R	probably damaging	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
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
R4165:Trappc11	UTSW	8	47,978,003 (GRCm39)	splice site	probably benign
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'- ATCAATTCCTGGGCCTTTGC -3'
(R):5'- CAGCTCAGGGTTCTATGTGG -3'

Sequencing Primer
(F):5'- GATGATATATTACTGCCAAGACCAAG -3'
(R):5'- GCTGGTGGCAGACTTTCC -3'

Posted On

2014-10-30