Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Trappc4'

19135

Institutional Source

Beutler Lab

Gene Symbol

Trappc4

Ensembl Gene

ENSMUSG00000032112

Gene Name

trafficking protein particle complex 4

Synonyms

TRS23, 1500017G03Rik, HSPC172, PTD009, Sbd, Sbdn

MMRRC Submission

038305-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

44315057-44318629 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 44316528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034623] [ENSMUST00000053286] [ENSMUST00000080300] [ENSMUST00000165839] [ENSMUST00000213268] [ENSMUST00000217163] [ENSMUST00000216076] [ENSMUST00000217084] [ENSMUST00000216867] [ENSMUST00000215420] [ENSMUST00000213388]

AlphaFold

Q9ES56

Predicted Effect

probably benign
Transcript: ENSMUST00000034623

SMART Domains

Protein: ENSMUSP00000034623
Gene: ENSMUSG00000032112

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	209	2.7e-63	PFAM
Pfam:Sedlin_N	90	207	2.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053286

SMART Domains

Protein: ENSMUSP00000053216
Gene: ENSMUSG00000043923

Domain	Start	End	E-Value	Type
Pfam:CCDC84	6	323	2.5e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080300

SMART Domains

Protein: ENSMUSP00000079180
Gene: ENSMUSG00000009927

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S25	4	112	6.2e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165839

SMART Domains

Protein: ENSMUSP00000129564
Gene: ENSMUSG00000032114

Domain	Start	End	E-Value	Type
Pfam:MFS_1	17	381	3.5e-48	PFAM
transmembrane domain	395	417	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213116

Predicted Effect

probably benign
Transcript: ENSMUST00000213268

Predicted Effect

probably benign
Transcript: ENSMUST00000217163

Predicted Effect

probably benign
Transcript: ENSMUST00000216076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215072

Predicted Effect

probably benign
Transcript: ENSMUST00000217084

Predicted Effect

probably benign
Transcript: ENSMUST00000216867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214370

Predicted Effect

probably benign
Transcript: ENSMUST00000215420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216134

Predicted Effect

probably benign
Transcript: ENSMUST00000213388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217224

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217231

Coding Region Coverage

1x: 79.6%
3x: 70.9%
10x: 47.0%
20x: 26.4%

Validation Efficiency

91% (78/86)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,940,250 (GRCm39)	A1320V	possibly damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,942,143 (GRCm39)	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,161,696 (GRCm39)	E270G	probably benign	Het
Cldnd1	T	A	16: 58,551,622 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,803,997 (GRCm39)	L1112P	probably benign	Het
Evc2	T	A	5: 37,574,793 (GRCm39)	L1016Q	probably damaging	Het
Fam135b	T	C	15: 71,493,881 (GRCm39)	K16R	probably damaging	Het
Frem1	T	C	4: 82,918,335 (GRCm39)	I536V	probably benign	Het
Ginm1	T	C	10: 7,651,138 (GRCm39)		probably benign	Het
Glrb	A	T	3: 80,767,622 (GRCm39)		probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10320	T	C	13: 98,626,054 (GRCm39)	Y110C	probably damaging	Het
Intu	T	C	3: 40,608,702 (GRCm39)		probably benign	Het
Ltbp1	A	G	17: 75,670,386 (GRCm39)	T1476A	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mitf	A	G	6: 97,784,242 (GRCm39)	K33R	probably benign	Het
Nlgn1	G	T	3: 25,490,006 (GRCm39)		probably benign	Het
Nup133	A	T	8: 124,631,318 (GRCm39)	I1072N	probably damaging	Het
Rock1	T	A	18: 10,084,380 (GRCm39)	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,643,774 (GRCm39)	E55D	probably damaging	Het
Scn8a	T	C	15: 100,911,454 (GRCm39)	V958A	probably damaging	Het
Sgk1	G	A	10: 21,873,337 (GRCm39)		probably null	Het
Shprh	C	T	10: 11,027,675 (GRCm39)	T94I	probably benign	Het
Smg1	A	T	7: 117,771,082 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,045,509 (GRCm39)	V1556I	probably benign	Het
Trappc14	T	C	5: 138,258,555 (GRCm39)		probably null	Het
Txlna	T	G	4: 129,522,879 (GRCm39)	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,978,502 (GRCm39)	F51S	possibly damaging	Het
Wdfy3	T	C	5: 101,996,215 (GRCm39)	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,351,268 (GRCm39)	V127G	probably damaging	Het
Zfp608	A	T	18: 55,028,286 (GRCm39)		probably benign	Het

Other mutations in Trappc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0010:Trappc4	UTSW	9	44,316,528 (GRCm39)	splice site	probably benign
R1709:Trappc4	UTSW	9	44,318,508 (GRCm39)	missense	probably benign	0.44
R4881:Trappc4	UTSW	9	44,315,322 (GRCm39)	missense	probably damaging	1.00
R5884:Trappc4	UTSW	9	44,315,385 (GRCm39)	missense	probably damaging	1.00
R6801:Trappc4	UTSW	9	44,315,685 (GRCm39)	missense	probably damaging	0.96
R7218:Trappc4	UTSW	9	44,316,587 (GRCm39)	missense	probably benign	0.00
R8724:Trappc4	UTSW	9	44,316,560 (GRCm39)	missense	probably benign	0.38
R9026:Trappc4	UTSW	9	44,315,655 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-03-25