Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01365:Trappc12'

75897

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trappc12

Ensembl Gene

ENSMUSG00000020628

Gene Name

trafficking protein particle complex 12

Synonyms

Ttc15, D930014A20Rik, CGI-87

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

IGL01365

Quality Score

Status

Chromosome

Chromosomal Location

28690628-28750472 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28747402 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 44 (I44F)

Ref Sequence

ENSEMBL: ENSMUSP00000132009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020954] [ENSMUST00000035657] [ENSMUST00000168129] [ENSMUST00000170994] [ENSMUST00000221555] [ENSMUST00000221877] [ENSMUST00000222407]

AlphaFold

Q8K2L8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020954
AA Change: I44F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020954
Gene: ENSMUSG00000020628
AA Change: I44F

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
low complexity region	232	245	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
TPR	607	640	3.67e-3	SMART
TPR	642	675	1.44e1	SMART
TPR	682	715	3.37e-2	SMART
TPR	716	749	2.99e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000035657

SMART Domains

Protein: ENSMUSP00000038845
Gene: ENSMUSG00000036613

Domain	Start	End	E-Value	Type
low complexity region	43	56	N/A	INTRINSIC
Blast:WD40	57	100	1e-18	BLAST
WD40	122	163	6.39e0	SMART
WD40	172	213	2.29e1	SMART
WD40	216	257	6.38e-7	SMART
WD40	261	301	4.38e-5	SMART
WD40	335	375	1.2e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168129
AA Change: I44F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127752
Gene: ENSMUSG00000020628
AA Change: I44F

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
low complexity region	232	245	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
TPR	607	640	3.67e-3	SMART
TPR	642	675	1.44e1	SMART
TPR	682	715	3.37e-2	SMART
TPR	716	749	2.99e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170994
AA Change: I44F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132009
Gene: ENSMUSG00000020628
AA Change: I44F

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
low complexity region	232	245	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221335

Predicted Effect

probably benign
Transcript: ENSMUST00000221555

Predicted Effect

probably benign
Transcript: ENSMUST00000221877

Predicted Effect

probably benign
Transcript: ENSMUST00000222407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223552

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	G	T	8: 83,723,889		probably null	Het
Agtr1a	A	G	13: 30,381,828	Y292C	probably damaging	Het
Btbd11	T	C	10: 85,633,816	V867A	possibly damaging	Het
CK137956	A	G	4: 127,951,342	S203P	probably benign	Het
Cnbd1	C	T	4: 18,860,576	G390D	probably damaging	Het
Cttnbp2nl	T	C	3: 105,005,030	T513A	probably damaging	Het
Dppa2	A	G	16: 48,313,913	K67R	possibly damaging	Het
Kif3a	A	G	11: 53,593,523	K486E	possibly damaging	Het
Lmnb2	G	T	10: 80,904,984	Q151K	probably benign	Het
Lmtk3	T	A	7: 45,790,907	L223Q	probably damaging	Het
Lrrk1	A	G	7: 66,287,701	I901T	probably damaging	Het
Macf1	T	C	4: 123,391,169	Y3624C	probably damaging	Het
Mios	T	A	6: 8,216,089	Y428*	probably null	Het
Myb	A	G	10: 21,152,502	I154T	probably benign	Het
Olfr294	T	C	7: 86,615,997	Y216C	probably damaging	Het
Parp9	C	T	16: 35,947,954	T168I	possibly damaging	Het
Pramel7	T	C	2: 87,491,413		probably benign	Het
Ptar1	T	A	19: 23,705,801	W140R	probably damaging	Het
Sec14l2	G	T	11: 4,098,317	D400E	probably benign	Het
Setd3	A	T	12: 108,157,906	Y175N	probably damaging	Het
Slc5a8	C	T	10: 88,892,097		probably benign	Het
Slc8a3	A	G	12: 81,315,376	V223A	probably damaging	Het
Srsf1	G	T	11: 88,049,181	R173L	possibly damaging	Het
Svep1	T	A	4: 58,100,878		probably null	Het
Tead2	T	A	7: 45,217,251	D11E	probably damaging	Het
Ttll9	T	C	2: 153,000,134	Y303H	possibly damaging	Het
Vmn1r28	T	A	6: 58,265,191	N6K	possibly damaging	Het

Other mutations in Trappc12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Trappc12	APN	12	28737836	missense	probably damaging	0.99
IGL01018:Trappc12	APN	12	28691854	splice site	probably benign
IGL01295:Trappc12	APN	12	28746762	missense	probably damaging	1.00
IGL01490:Trappc12	APN	12	28746915	missense	probably damaging	1.00
IGL01975:Trappc12	APN	12	28692492	critical splice donor site	probably null
IGL02851:Trappc12	APN	12	28691406	missense	probably damaging	0.98
IGL02885:Trappc12	APN	12	28747014	missense	probably benign
IGL03163:Trappc12	APN	12	28746654	missense	probably damaging	1.00
R0102:Trappc12	UTSW	12	28746752	missense	probably damaging	1.00
R0102:Trappc12	UTSW	12	28746752	missense	probably damaging	1.00
R0330:Trappc12	UTSW	12	28747260	missense	probably benign	0.00
R0517:Trappc12	UTSW	12	28697134	splice site	probably benign
R0837:Trappc12	UTSW	12	28703597	missense	possibly damaging	0.92
R1439:Trappc12	UTSW	12	28747161	missense	possibly damaging	0.96
R1477:Trappc12	UTSW	12	28737752	missense	probably benign	0.25
R1651:Trappc12	UTSW	12	28691777	missense	probably benign	0.32
R1899:Trappc12	UTSW	12	28746985	missense	probably damaging	0.97
R1900:Trappc12	UTSW	12	28746985	missense	probably damaging	0.97
R2133:Trappc12	UTSW	12	28746598	missense	probably benign	0.00
R2174:Trappc12	UTSW	12	28747381	missense	possibly damaging	0.94
R4449:Trappc12	UTSW	12	28747235	missense	probably benign	0.05
R5031:Trappc12	UTSW	12	28692513	missense	possibly damaging	0.86
R5209:Trappc12	UTSW	12	28737794	missense	probably benign	0.03
R5220:Trappc12	UTSW	12	28746697	missense	probably damaging	0.97
R5458:Trappc12	UTSW	12	28746390	missense	probably damaging	0.98
R5471:Trappc12	UTSW	12	28691500	missense	probably damaging	1.00
R5482:Trappc12	UTSW	12	28691325	missense	probably damaging	0.97
R5808:Trappc12	UTSW	12	28746864	missense	probably damaging	1.00
R5916:Trappc12	UTSW	12	28691514	missense	probably damaging	1.00
R5996:Trappc12	UTSW	12	28747114	missense	possibly damaging	0.83
R6378:Trappc12	UTSW	12	28747083	missense	probably damaging	0.97
R7669:Trappc12	UTSW	12	28711958	missense	probably benign	0.30
R9233:Trappc12	UTSW	12	28722415	missense	possibly damaging	0.88
R9323:Trappc12	UTSW	12	28692492	critical splice donor site	probably null
R9361:Trappc12	UTSW	12	28746418	missense	probably damaging	0.99

Posted On

2013-10-07