Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02454:Trappc6b'

293776

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trappc6b

Ensembl Gene

ENSMUSG00000020993

Gene Name

trafficking protein particle complex 6B

Synonyms

5830498C14Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

IGL02454

Quality Score

Status

Chromosome

Chromosomal Location

59089878-59108258 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 59090433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 97 (*97Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021380] [ENSMUST00000217660] [ENSMUST00000217863] [ENSMUST00000218686] [ENSMUST00000218799]

AlphaFold

Q9D289

Predicted Effect

probably null
Transcript: ENSMUST00000021380
AA Change: *159Q

SMART Domains

Protein: ENSMUSP00000021380
Gene: ENSMUSG00000020993
AA Change: *159Q

Domain	Start	End	E-Value	Type
Pfam:TRAPP	7	156	3.3e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083298

Predicted Effect

probably benign
Transcript: ENSMUST00000217660

Predicted Effect

probably benign
Transcript: ENSMUST00000217863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218150

Predicted Effect

probably null
Transcript: ENSMUST00000218686
AA Change: *97Q

Predicted Effect

probably benign
Transcript: ENSMUST00000218799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218936

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amz2	T	G	11: 109,324,887 (GRCm39)		probably benign	Het
Atp13a5	A	G	16: 29,051,560 (GRCm39)	F1104S	probably benign	Het
Cacna1c	T	C	6: 118,579,141 (GRCm39)	N1610S	probably damaging	Het
Ccnl1	A	T	3: 65,864,318 (GRCm39)	D122E	probably damaging	Het
Crtc2	G	A	3: 90,166,474 (GRCm39)	G65S	probably benign	Het
Dnah17	T	C	11: 117,971,593 (GRCm39)	T2160A	probably damaging	Het
Fads3	T	G	19: 10,032,483 (GRCm39)	L278R	probably damaging	Het
Foxp4	A	T	17: 48,186,507 (GRCm39)	L424*	probably null	Het
Gm10392	A	T	11: 77,409,216 (GRCm39)	E310V	probably damaging	Het
Gm11554	T	A	11: 99,694,815 (GRCm39)	S133C	unknown	Het
Hacd2	T	A	16: 34,926,761 (GRCm39)	F253L	probably benign	Het
Il3ra	T	C	14: 14,351,113 (GRCm38)	S212P	probably benign	Het
Mdn1	T	C	4: 32,694,674 (GRCm39)		probably null	Het
Mtfr1l	A	T	4: 134,257,696 (GRCm39)	L111H	probably damaging	Het
Mysm1	A	G	4: 94,858,741 (GRCm39)		probably benign	Het
Or10j2	C	A	1: 173,098,507 (GRCm39)	S255Y	probably damaging	Het
Or52d1	T	C	7: 103,755,819 (GRCm39)	V111A	probably damaging	Het
Plec	A	T	15: 76,075,231 (GRCm39)	F357I	probably damaging	Het
Polr3a	C	A	14: 24,525,891 (GRCm39)	V450L	possibly damaging	Het
Prkd1	T	C	12: 50,411,456 (GRCm39)	K764R	probably benign	Het
Pxn	C	T	5: 115,690,325 (GRCm39)	P256S	probably damaging	Het
Rbm25	T	A	12: 83,707,096 (GRCm39)	F247L	probably benign	Het
Rfx4	C	T	10: 84,675,970 (GRCm39)	T62M	possibly damaging	Het
Rps4l-ps	T	C	7: 114,526,499 (GRCm39)		noncoding transcript	Het
Scn11a	A	G	9: 119,587,610 (GRCm39)	I1378T	probably benign	Het
Siglecg	T	C	7: 43,058,319 (GRCm39)	S69P	probably benign	Het
Stox1	T	C	10: 62,503,605 (GRCm39)	Y61C	probably damaging	Het
Tex55	T	A	16: 38,648,309 (GRCm39)	T267S	probably benign	Het
Tnks	C	T	8: 35,298,882 (GRCm39)		probably benign	Het
Tpr	A	G	1: 150,306,943 (GRCm39)	S1587G	probably benign	Het
Usf3	T	C	16: 44,037,545 (GRCm39)	V675A	probably damaging	Het
Wdr7	C	T	18: 63,929,299 (GRCm39)	T1045M	probably benign	Het
Zc3h11a	A	T	1: 133,552,254 (GRCm39)	C618S	probably benign	Het
Zfp398	T	C	6: 47,817,301 (GRCm39)	V47A	possibly damaging	Het
Zzz3	A	G	3: 152,134,211 (GRCm39)	N423S	probably benign	Het

Other mutations in Trappc6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1160:Trappc6b	UTSW	12	59,097,064 (GRCm39)	missense	probably damaging	1.00
R1478:Trappc6b	UTSW	12	59,094,953 (GRCm39)	missense	possibly damaging	0.63
R1668:Trappc6b	UTSW	12	59,094,907 (GRCm39)	critical splice donor site	probably null
R2248:Trappc6b	UTSW	12	59,097,167 (GRCm39)	missense	probably damaging	1.00
R5076:Trappc6b	UTSW	12	59,097,094 (GRCm39)	missense	probably damaging	1.00
R8943:Trappc6b	UTSW	12	59,097,149 (GRCm39)	missense	probably damaging	1.00
R9134:Trappc6b	UTSW	12	59,097,160 (GRCm39)	missense	probably damaging	1.00
R9498:Trappc6b	UTSW	12	59,097,127 (GRCm39)	missense	possibly damaging	0.86

Posted On

2015-04-16