Mutagenetix > Incidental Mutation

Incidental Mutation 'R5448:Trappc1'

429184

Institutional Source

Beutler Lab

Gene Symbol

Trappc1

Ensembl Gene

ENSMUSG00000049299

Gene Name

trafficking protein particle complex 1

Synonyms

MUM2, BET5, D11Ertd172e

MMRRC Submission

043013-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5448 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69214812-69216619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69216361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 136 (S136P)

Ref Sequence

ENSEMBL: ENSMUSP00000099662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018614] [ENSMUST00000060956] [ENSMUST00000092973] [ENSMUST00000102601] [ENSMUST00000102602] [ENSMUST00000108662] [ENSMUST00000123176]

AlphaFold

Q5NCF2

Predicted Effect

probably benign
Transcript: ENSMUST00000018614

SMART Domains

Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470

Domain	Start	End	E-Value	Type
low complexity region	23	49	N/A	INTRINSIC
low complexity region	54	65	N/A	INTRINSIC
Pfam:Aldo_ket_red	92	396	1.6e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060956

SMART Domains

Protein: ENSMUSP00000050153
Gene: ENSMUSG00000049299

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	109	2.2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092973

SMART Domains

Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782

Domain	Start	End	E-Value	Type
coiled coil region	191	218	N/A	INTRINSIC
coiled coil region	249	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102601
AA Change: S136P

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099661
Gene: ENSMUSG00000049299
AA Change: S136P

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	137	1.4e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102602
AA Change: S136P

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099662
Gene: ENSMUSG00000049299
AA Change: S136P

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	137	1.4e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108662
AA Change: S126P

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104302
Gene: ENSMUSG00000049299
AA Change: S126P

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	127	2.2e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140555

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product plays a role in vesicular transport of proteins to the Golgi apparatus from the endoplasmic reticulum. The encoded protein is a component of the multisubunit transport protein particle (TRAPP) complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Actn3	T	C	19: 4,913,239 (GRCm39)	D699G	possibly damaging	Het
C1galt1	C	T	6: 7,866,658 (GRCm39)	A168V	possibly damaging	Het
Ccdc180	A	T	4: 45,920,913 (GRCm39)	E953V	probably damaging	Het
Ccdc88b	T	A	19: 6,831,948 (GRCm39)	D411V	probably damaging	Het
Cdadc1	T	A	14: 59,811,275 (GRCm39)	I412L	possibly damaging	Het
Clip2	T	C	5: 134,542,902 (GRCm39)	N424D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbxo38	A	T	18: 62,655,528 (GRCm39)	I386N	possibly damaging	Het
Gm9887	C	A	12: 69,418,865 (GRCm39)		probably benign	Het
Itgae	T	C	11: 73,024,734 (GRCm39)		probably null	Het
Klhl2	C	A	8: 65,275,642 (GRCm39)		probably null	Het
Krt1	T	A	15: 101,757,464 (GRCm39)	K249*	probably null	Het
L3mbtl2	T	C	15: 81,568,534 (GRCm39)	Y513H	possibly damaging	Het
Maml2	A	C	9: 13,617,763 (GRCm39)	S370R	probably damaging	Het
Or1e35	T	C	11: 73,797,437 (GRCm39)	N294D	probably damaging	Het
Or4c112	T	G	2: 88,853,845 (GRCm39)	L167F	probably benign	Het
Pcnx2	T	C	8: 126,614,888 (GRCm39)	T188A	probably benign	Het
Pde6c	A	G	19: 38,121,623 (GRCm39)	E77G	probably damaging	Het
Pgr	A	G	9: 8,922,638 (GRCm39)	I603V	probably benign	Het
Plce1	T	C	19: 38,768,361 (GRCm39)	V2212A	probably damaging	Het
Ppl	C	T	16: 4,925,430 (GRCm39)	A70T	probably benign	Het
Prpf40a	G	T	2: 53,046,938 (GRCm39)	T266N	possibly damaging	Het
Prrx1	T	C	1: 163,075,867 (GRCm39)	E233G	probably damaging	Het
Rdh16f2	C	T	10: 127,712,932 (GRCm39)	T310I	probably benign	Het
Rfx6	T	C	10: 51,559,733 (GRCm39)	S187P	probably damaging	Het
Scn10a	A	T	9: 119,517,013 (GRCm39)	F135I	probably benign	Het
Shld2	G	A	14: 33,990,327 (GRCm39)	T193I	probably benign	Het
Slc24a1	A	G	9: 64,855,609 (GRCm39)	F433L	probably benign	Het
Slfn3	T	A	11: 83,105,431 (GRCm39)	L476Q	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Tshz3	A	G	7: 36,470,654 (GRCm39)	E881G	possibly damaging	Het
Ubash3b	A	G	9: 40,948,731 (GRCm39)		probably null	Het
Wdtc1	G	A	4: 133,021,608 (GRCm39)	A642V	probably benign	Het
Zdhhc22	T	C	12: 87,035,341 (GRCm39)	D37G	possibly damaging	Het

Other mutations in Trappc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0362:Trappc1	UTSW	11	69,216,402 (GRCm39)	missense	probably benign	0.00
R0785:Trappc1	UTSW	11	69,215,636 (GRCm39)	unclassified	probably benign
R2109:Trappc1	UTSW	11	69,215,243 (GRCm39)	missense	probably damaging	1.00
R3522:Trappc1	UTSW	11	69,215,248 (GRCm39)	missense	probably damaging	0.96
R4663:Trappc1	UTSW	11	69,216,337 (GRCm39)	missense	probably benign
R4676:Trappc1	UTSW	11	69,216,356 (GRCm39)	missense	probably damaging	1.00
R5165:Trappc1	UTSW	11	69,215,060 (GRCm39)	missense	probably benign	0.43
R5817:Trappc1	UTSW	11	69,215,060 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- ACCCGTGTATTCTTATATTCTCGAG -3'
(R):5'- TCTCACAGAGTCAAGCAGGG -3'

Sequencing Primer
(F):5'- CTCGAGATTACACCATGTTTGAG -3'
(R):5'- TAAAACTGGCGTAGACTCCTGTG -3'

Posted On

2016-09-06