Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02214:Trappc9'

284804

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trappc9

Ensembl Gene

ENSMUSG00000047921

Gene Name

trafficking protein particle complex 9

Synonyms

TRS130, Nibp, 2900005P22Rik, 4632408O18Rik, 1810044A24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02214

Quality Score

Status

Chromosome

Chromosomal Location

72461469-72933053 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 72884731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 416 (W416*)

Ref Sequence

ENSEMBL: ENSMUSP00000155105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023276] [ENSMUST00000089770] [ENSMUST00000168191] [ENSMUST00000170633] [ENSMUST00000228960]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000023276
AA Change: W237*

SMART Domains

Protein: ENSMUSP00000023276
Gene: ENSMUSG00000047921
AA Change: W237*

Domain	Start	End	E-Value	Type
Pfam:TRAPPC9-Trs120	2	920	3.6e-239	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000089770
AA Change: W416*

SMART Domains

Protein: ENSMUSP00000087202
Gene: ENSMUSG00000047921
AA Change: W416*

Domain	Start	End	E-Value	Type
Pfam:TRAPPC9-Trs120	182	350	4.1e-20	PFAM
Pfam:TRAPPC9-Trs120	434	664	2.2e-16	PFAM
low complexity region	993	1004	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000168191
AA Change: W416*

SMART Domains

Protein: ENSMUSP00000131295
Gene: ENSMUSG00000047921
AA Change: W416*

Domain	Start	End	E-Value	Type
Pfam:TRAPPC9-Trs120	1	810	3.7e-222	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000170633
AA Change: W425*

SMART Domains

Protein: ENSMUSP00000131997
Gene: ENSMUSG00000047921
AA Change: W425*

Domain	Start	End	E-Value	Type
Pfam:TRAPPC9-Trs120	1	820	7.6e-224	PFAM
coiled coil region	857	885	N/A	INTRINSIC
low complexity region	906	929	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000228960
AA Change: W416*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230270

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,464,736 (GRCm39)		probably benign	Het
A330008L17Rik	T	A	8: 100,148,390 (GRCm39)		noncoding transcript	Het
A930004D18Rik	A	G	2: 18,032,067 (GRCm39)	L17P	unknown	Het
Abca14	A	T	7: 119,893,398 (GRCm39)	M1283L	probably benign	Het
Adarb1	A	T	10: 77,158,135 (GRCm39)	V104E	probably damaging	Het
Ano1	T	A	7: 144,209,445 (GRCm39)	N252Y	possibly damaging	Het
Atp6v0a1	A	G	11: 100,930,666 (GRCm39)	S498G	probably benign	Het
Bdp1	A	G	13: 100,178,043 (GRCm39)	V1942A	probably benign	Het
Carf	T	A	1: 60,187,240 (GRCm39)	D579E	probably damaging	Het
Cltc	A	T	11: 86,623,412 (GRCm39)	S200R	probably benign	Het
Cpeb1	T	C	7: 81,021,805 (GRCm39)	S113G	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ehd3	T	A	17: 74,127,541 (GRCm39)	L158H	probably damaging	Het
Etfa	C	A	9: 55,372,095 (GRCm39)	G289W	probably damaging	Het
Fndc3c1	G	A	X: 105,469,435 (GRCm39)	T1029I	probably benign	Het
Gipr	C	A	7: 18,891,471 (GRCm39)	G402V	possibly damaging	Het
Hacd1	C	T	2: 14,031,758 (GRCm39)	V242M	probably damaging	Het
Hecw1	A	G	13: 14,474,978 (GRCm39)	L520P	probably damaging	Het
Ibtk	A	T	9: 85,596,232 (GRCm39)		probably benign	Het
Igkv16-104	A	C	6: 68,402,778 (GRCm39)	I24L	probably benign	Het
Kcnh8	A	T	17: 53,184,939 (GRCm39)	Y407F	possibly damaging	Het
Mansc1	C	T	6: 134,587,323 (GRCm39)	V285M	probably benign	Het
Mindy4	A	G	6: 55,193,636 (GRCm39)	R110G	possibly damaging	Het
Morn1	C	T	4: 155,176,776 (GRCm39)	H100Y	probably damaging	Het
Naip6	A	T	13: 100,452,567 (GRCm39)	S165T	probably damaging	Het
Or13a24	A	T	7: 140,154,470 (GRCm39)	R135*	probably null	Het
Or5aq1	T	G	2: 86,965,849 (GRCm39)	K272T	probably damaging	Het
Prx	G	T	7: 27,218,337 (GRCm39)	R946M	probably damaging	Het
Ptchd1	A	G	X: 154,356,706 (GRCm39)	V833A	possibly damaging	Het
Rgl2	A	G	17: 34,154,163 (GRCm39)	D481G	probably benign	Het
Serpinb3a	A	G	1: 106,976,218 (GRCm39)		probably null	Het
Shtn1	T	C	19: 58,988,318 (GRCm39)		probably benign	Het
Slco1a7	T	A	6: 141,668,911 (GRCm39)	D507V	possibly damaging	Het
Sult1b1	C	T	5: 87,682,949 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,923,106 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,155,894 (GRCm39)	Y2240H	possibly damaging	Het
Ubr4	G	A	4: 139,189,138 (GRCm39)		probably null	Het
Vmn2r76	A	C	7: 85,879,138 (GRCm39)	F387L	probably benign	Het
Vps8	G	A	16: 21,336,035 (GRCm39)	C729Y	probably damaging	Het

Other mutations in Trappc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Trappc9	APN	15	72,897,875 (GRCm39)	missense	possibly damaging	0.79
IGL01348:Trappc9	APN	15	72,808,858 (GRCm39)	missense	possibly damaging	0.64
IGL01367:Trappc9	APN	15	72,462,002 (GRCm39)	missense	probably benign	0.31
IGL01521:Trappc9	APN	15	72,924,016 (GRCm39)	missense	probably damaging	1.00
IGL01726:Trappc9	APN	15	72,817,971 (GRCm39)	missense	probably damaging	0.98
IGL01881:Trappc9	APN	15	72,871,841 (GRCm39)	missense	probably damaging	1.00
IGL02693:Trappc9	APN	15	72,835,542 (GRCm39)	splice site	probably benign
IGL03229:Trappc9	APN	15	72,930,305 (GRCm39)	missense	probably damaging	1.00
basilio	UTSW	15	72,930,242 (GRCm39)	missense	probably damaging	1.00
Boomboom	UTSW	15	72,608,718 (GRCm39)	nonsense	probably null
bronto	UTSW	15	72,930,087 (GRCm39)	nonsense	probably null
Earl	UTSW	15	72,608,626 (GRCm39)	nonsense	probably null
Sotto_aceto	UTSW	15	72,557,188 (GRCm39)	missense	probably damaging	0.99
P0026:Trappc9	UTSW	15	72,824,931 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Trappc9	UTSW	15	72,903,447 (GRCm39)	frame shift	probably null
PIT4519001:Trappc9	UTSW	15	72,824,943 (GRCm39)	missense	probably benign
R0001:Trappc9	UTSW	15	72,835,511 (GRCm39)	missense	probably damaging	1.00
R0094:Trappc9	UTSW	15	72,894,929 (GRCm38)	intron	probably benign
R0745:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R0747:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R0800:Trappc9	UTSW	15	72,824,981 (GRCm39)	splice site	probably benign
R0816:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R0819:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R0820:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R0893:Trappc9	UTSW	15	72,461,956 (GRCm39)	missense	probably damaging	1.00
R0976:Trappc9	UTSW	15	72,871,823 (GRCm39)	missense	probably damaging	0.99
R1119:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R1266:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R1453:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R1454:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R1531:Trappc9	UTSW	15	72,565,397 (GRCm39)	nonsense	probably null
R1543:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R1563:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R1565:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R1600:Trappc9	UTSW	15	72,808,958 (GRCm39)	nonsense	probably null
R1712:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R1756:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R1789:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R1978:Trappc9	UTSW	15	72,871,874 (GRCm39)	missense	probably damaging	1.00
R2001:Trappc9	UTSW	15	72,929,885 (GRCm39)	missense	probably damaging	0.99
R2312:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R2334:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R2926:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R3123:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R3124:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R3125:Trappc9	UTSW	15	72,897,816 (GRCm39)	missense	probably damaging	1.00
R3813:Trappc9	UTSW	15	72,930,242 (GRCm39)	missense	probably damaging	1.00
R4012:Trappc9	UTSW	15	72,903,472 (GRCm39)	missense	possibly damaging	0.95
R4080:Trappc9	UTSW	15	72,813,796 (GRCm39)	missense	probably damaging	1.00
R4282:Trappc9	UTSW	15	72,462,641 (GRCm39)	missense	probably damaging	1.00
R4572:Trappc9	UTSW	15	72,808,916 (GRCm39)	missense	possibly damaging	0.61
R4739:Trappc9	UTSW	15	72,808,909 (GRCm39)	missense	probably damaging	0.97
R4959:Trappc9	UTSW	15	72,808,905 (GRCm39)	missense	probably damaging	1.00
R4973:Trappc9	UTSW	15	72,808,905 (GRCm39)	missense	probably damaging	1.00
R5123:Trappc9	UTSW	15	72,785,215 (GRCm39)	intron	probably benign
R5128:Trappc9	UTSW	15	72,930,242 (GRCm39)	missense	probably damaging	1.00
R5228:Trappc9	UTSW	15	72,929,844 (GRCm39)	missense	probably damaging	1.00
R5362:Trappc9	UTSW	15	72,930,066 (GRCm39)	missense	possibly damaging	0.68
R5802:Trappc9	UTSW	15	72,557,188 (GRCm39)	missense	probably damaging	0.99
R6032:Trappc9	UTSW	15	72,797,379 (GRCm39)	missense	probably benign	0.43
R6032:Trappc9	UTSW	15	72,797,379 (GRCm39)	missense	probably benign	0.43
R6154:Trappc9	UTSW	15	72,929,930 (GRCm39)	missense	probably benign	0.03
R6372:Trappc9	UTSW	15	72,461,923 (GRCm39)	missense	possibly damaging	0.75
R6661:Trappc9	UTSW	15	72,461,993 (GRCm39)	missense	possibly damaging	0.55
R6864:Trappc9	UTSW	15	72,809,011 (GRCm39)	splice site	probably null
R6893:Trappc9	UTSW	15	72,797,499 (GRCm39)	missense	possibly damaging	0.93
R7099:Trappc9	UTSW	15	72,565,468 (GRCm39)	missense	probably benign	0.00
R7276:Trappc9	UTSW	15	72,924,119 (GRCm39)	missense	probably damaging	0.99
R7349:Trappc9	UTSW	15	72,608,718 (GRCm39)	nonsense	probably null
R8260:Trappc9	UTSW	15	72,813,758 (GRCm39)	nonsense	probably null
R8399:Trappc9	UTSW	15	72,924,131 (GRCm39)	missense	probably damaging	1.00
R8683:Trappc9	UTSW	15	72,884,664 (GRCm39)	missense	probably benign	0.26
R8839:Trappc9	UTSW	15	72,930,087 (GRCm39)	nonsense	probably null
R8945:Trappc9	UTSW	15	72,929,945 (GRCm39)	missense	probably benign
R9083:Trappc9	UTSW	15	72,608,626 (GRCm39)	nonsense	probably null
R9323:Trappc9	UTSW	15	72,565,431 (GRCm39)	missense	probably benign	0.41
R9329:Trappc9	UTSW	15	72,673,202 (GRCm39)	missense	unknown
R9366:Trappc9	UTSW	15	72,808,937 (GRCm39)	missense	probably benign
R9723:Trappc9	UTSW	15	72,461,963 (GRCm39)	missense	possibly damaging	0.87
RF008:Trappc9	UTSW	15	72,673,138 (GRCm39)	small insertion	probably benign
RF009:Trappc9	UTSW	15	72,673,136 (GRCm39)	small insertion	probably benign
RF014:Trappc9	UTSW	15	72,673,132 (GRCm39)	small insertion	probably benign
RF016:Trappc9	UTSW	15	72,673,138 (GRCm39)	small insertion	probably benign
RF023:Trappc9	UTSW	15	72,673,180 (GRCm39)	small insertion	probably benign
RF023:Trappc9	UTSW	15	72,673,173 (GRCm39)	small insertion	probably benign
RF028:Trappc9	UTSW	15	72,673,139 (GRCm39)	small insertion	probably benign
RF029:Trappc9	UTSW	15	72,673,172 (GRCm39)	small insertion	probably benign
RF030:Trappc9	UTSW	15	72,673,174 (GRCm39)	small insertion	probably benign
RF034:Trappc9	UTSW	15	72,673,147 (GRCm39)	small insertion	probably benign
RF036:Trappc9	UTSW	15	72,673,169 (GRCm39)	small insertion	probably benign
RF038:Trappc9	UTSW	15	72,673,172 (GRCm39)	small insertion	probably benign
RF040:Trappc9	UTSW	15	72,673,141 (GRCm39)	small insertion	probably benign
RF042:Trappc9	UTSW	15	72,673,132 (GRCm39)	small insertion	probably benign
RF043:Trappc9	UTSW	15	72,673,154 (GRCm39)	small insertion	probably benign
RF049:Trappc9	UTSW	15	72,673,155 (GRCm39)	small insertion	probably benign
RF049:Trappc9	UTSW	15	72,673,150 (GRCm39)	small insertion	probably benign
RF053:Trappc9	UTSW	15	72,673,177 (GRCm39)	small insertion	probably benign
RF057:Trappc9	UTSW	15	72,673,144 (GRCm39)	small insertion	probably benign
RF063:Trappc9	UTSW	15	72,673,173 (GRCm39)	small insertion	probably benign
RF063:Trappc9	UTSW	15	72,673,169 (GRCm39)	small insertion	probably benign
Z1177:Trappc9	UTSW	15	72,924,011 (GRCm39)	missense	probably null	0.51

Posted On

2015-04-16