Mutagenetix > Incidental Mutation

Incidental Mutation 'RF043:Trappc9'

604935

Institutional Source

Beutler Lab

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 #

RF043 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

72589620-73061204 bp(-) (GRCm38)

Type of Mutation

small insertion (5 aa in frame mutation)

DNA Base Change (assembly)

GCTGCTGCTGCTGCTGCTGCTGCTGCT to GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCT at 72801305 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131997 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023276

SMART Domains

Protein: ENSMUSP00000023276
Gene: ENSMUSG00000047921

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

Predicted Effect

probably benign
Transcript: ENSMUST00000089770

SMART Domains

Protein: ENSMUSP00000087202
Gene: ENSMUSG00000047921

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 benign
Transcript: ENSMUST00000170633

SMART Domains

Protein: ENSMUSP00000131997
Gene: ENSMUSG00000047921

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc2	GCGGCGGCGGCGAC	GC	2: 25,272,561		probably benign	Het
Ankhd1	CGGCGG	CGGCGGTGGCGG	18: 36,560,917		probably benign	Het
Btnl10	CAAA	CAAAAAA	11: 58,923,926		probably benign	Het
Cpne1	TCCAC	TC	2: 156,073,510		probably benign	Het
Cyb5r4	ACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,411		probably benign	Het
Cyb5r4	AGACACACTGCCCAGGGA	AGACACACTGCCCAGGGATGTGACCGACACACTGCCCAGGGA	9: 87,040,431		probably benign	Het
Dbr1	GAGGAG	GAGGAGCAGGAG	9: 99,583,697		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,485,833		probably benign	Het
Emid1	G	T	11: 5,144,322	P63Q	probably damaging	Het
Gabre	GCTCCG	GCTCCGACTCCG	X: 72,270,048		probably benign	Het
Gar1	AACTGCC	A	3: 129,830,688		probably benign	Het
Gm10181	GAGAGAGAGAGAGA	G	9: 25,089,459		probably null	Het
Hic1	GGGA	G	11: 75,169,455		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,125,842		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCGTTTTCCTTTT	9: 106,570,613		probably benign	Het
Krtap4-2	AGGGGCGGCAGC	A	11: 99,634,721		probably null	Het
Lmx1b	CATCTTGATGCCGTCCAA	CA	2: 33,640,509		probably null	Het
Lrch1	TGGTGGTG	T	14: 74,947,575		probably null	Het
Lrmp	TG	TGAGCACATGG	6: 145,173,790		probably benign	Het
Lypd8	CA	CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAAGA	11: 58,390,243		probably benign	Het
Mamld1	AGC	AGCTGC	X: 71,118,835		probably benign	Het
Mrgprx1	GAAC	GAACAAC	7: 48,021,509		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	11: 4,941,016		probably benign	Het
Nusap1	AGTGAGGAGCAAGCTGAGA	AGTGAGGAGCAAGCTGAGATACACGTTAGCCGTGAGGAGCAAGCTGAGA	2: 119,627,592		probably benign	Het
P4ha2	GGTGTTG	GG	11: 54,110,250		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Het
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,479,858		probably benign	Het
Ptms	TCCTCCTC	TCCTCCTCCTC	6: 124,914,448		probably benign	Het
Rassf6	AATGGGGATTC	AATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGCCATGGGGATTC	5: 90,608,932		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCAGGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939		probably benign	Het
Rgs22	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAA	15: 36,010,836		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCGCTC	12: 26,314,014		probably benign	Het
Rpgrip1	GAG	GAGAAG	14: 52,149,395		probably benign	Het
Sgpp1	ACACAC	A	12: 75,722,625		probably null	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCACCATGATCGCTGTGTTC	15: 76,614,870		probably benign	Het
Spaca1	TCTCGC	TCTCGCGCTCGC	4: 34,049,846		probably benign	Het
Stard8	GGA	GGATGA	X: 99,066,520		probably benign	Het
Stard8	GA	GAGCA	X: 99,066,527		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGAAGGGCACTTTCCCAGGGATCCCCTTGGC	18: 60,833,572		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,616,036		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCGCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Tmed6	AGC	AGCTCGC	8: 107,061,596		probably null	Het
Zfp933	TT	TTTGCCT	4: 147,825,731		probably null	Het

Other mutations in Trappc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Trappc9	APN	15	73026026	missense	possibly damaging	0.79
IGL01348:Trappc9	APN	15	72937009	missense	possibly damaging	0.64
IGL01367:Trappc9	APN	15	72590153	missense	probably benign	0.31
IGL01521:Trappc9	APN	15	73052167	missense	probably damaging	1.00
IGL01726:Trappc9	APN	15	72946122	missense	probably damaging	0.98
IGL01881:Trappc9	APN	15	72999992	missense	probably damaging	1.00
IGL02214:Trappc9	APN	15	73012882	nonsense	probably null
IGL02693:Trappc9	APN	15	72963693	splice site	probably benign
IGL03229:Trappc9	APN	15	73058456	missense	probably damaging	1.00
basilio	UTSW	15	73058393	missense	probably damaging	1.00
Boomboom	UTSW	15	72736869	nonsense	probably null
bronto	UTSW	15	73058238	nonsense	probably null
Earl	UTSW	15	72736777	nonsense	probably null
Sotto_aceto	UTSW	15	72685339	missense	probably damaging	0.99
P0026:Trappc9	UTSW	15	72953082	missense	probably damaging	1.00
PIT4453001:Trappc9	UTSW	15	73031598	frame shift	probably null
PIT4519001:Trappc9	UTSW	15	72953094	missense	probably benign
R0001:Trappc9	UTSW	15	72963662	missense	probably damaging	1.00
R0094:Trappc9	UTSW	15	72894929	intron	probably benign
R0745:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R0747:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R0800:Trappc9	UTSW	15	72953132	splice site	probably benign
R0816:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R0819:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R0820:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R0893:Trappc9	UTSW	15	72590107	missense	probably damaging	1.00
R0976:Trappc9	UTSW	15	72999974	missense	probably damaging	0.99
R1119:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R1266:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R1453:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R1454:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R1531:Trappc9	UTSW	15	72693548	nonsense	probably null
R1543:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R1563:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R1565:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R1600:Trappc9	UTSW	15	72937109	nonsense	probably null
R1712:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R1756:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R1789:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R1978:Trappc9	UTSW	15	73000025	missense	probably damaging	1.00
R2001:Trappc9	UTSW	15	73058036	missense	probably damaging	0.99
R2312:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R2334:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R2926:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R3123:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R3124:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R3125:Trappc9	UTSW	15	73025967	missense	probably damaging	1.00
R3813:Trappc9	UTSW	15	73058393	missense	probably damaging	1.00
R4012:Trappc9	UTSW	15	73031623	missense	possibly damaging	0.95
R4080:Trappc9	UTSW	15	72941947	missense	probably damaging	1.00
R4282:Trappc9	UTSW	15	72590792	missense	probably damaging	1.00
R4572:Trappc9	UTSW	15	72937067	missense	possibly damaging	0.61
R4739:Trappc9	UTSW	15	72937060	missense	probably damaging	0.97
R4959:Trappc9	UTSW	15	72937056	missense	probably damaging	1.00
R4973:Trappc9	UTSW	15	72937056	missense	probably damaging	1.00
R5123:Trappc9	UTSW	15	72913366	intron	probably benign
R5128:Trappc9	UTSW	15	73058393	missense	probably damaging	1.00
R5228:Trappc9	UTSW	15	73057995	missense	probably damaging	1.00
R5362:Trappc9	UTSW	15	73058217	missense	possibly damaging	0.68
R5802:Trappc9	UTSW	15	72685339	missense	probably damaging	0.99
R6032:Trappc9	UTSW	15	72925530	missense	probably benign	0.43
R6032:Trappc9	UTSW	15	72925530	missense	probably benign	0.43
R6154:Trappc9	UTSW	15	73058081	missense	probably benign	0.03
R6372:Trappc9	UTSW	15	72590074	missense	possibly damaging	0.75
R6661:Trappc9	UTSW	15	72590144	missense	possibly damaging	0.55
R6864:Trappc9	UTSW	15	72937162	splice site	probably null
R6893:Trappc9	UTSW	15	72925650	missense	possibly damaging	0.93
R7099:Trappc9	UTSW	15	72693619	missense	probably benign	0.00
R7276:Trappc9	UTSW	15	73052270	missense	probably damaging	0.99
R7349:Trappc9	UTSW	15	72736869	nonsense	probably null
R8260:Trappc9	UTSW	15	72941909	nonsense	probably null
R8399:Trappc9	UTSW	15	73052282	missense	probably damaging	1.00
R8683:Trappc9	UTSW	15	73012815	missense	probably benign	0.26
R8839:Trappc9	UTSW	15	73058238	nonsense	probably null
R8945:Trappc9	UTSW	15	73058096	missense	probably benign
R9083:Trappc9	UTSW	15	72736777	nonsense	probably null
R9323:Trappc9	UTSW	15	72693582	missense	probably benign	0.41
R9329:Trappc9	UTSW	15	72801353	missense	unknown
R9366:Trappc9	UTSW	15	72937088	missense	probably benign
R9723:Trappc9	UTSW	15	72590114	missense	possibly damaging	0.87
RF008:Trappc9	UTSW	15	72801289	small insertion	probably benign
RF009:Trappc9	UTSW	15	72801287	small insertion	probably benign
RF014:Trappc9	UTSW	15	72801283	small insertion	probably benign
RF016:Trappc9	UTSW	15	72801289	small insertion	probably benign
RF023:Trappc9	UTSW	15	72801324	small insertion	probably benign
RF023:Trappc9	UTSW	15	72801331	small insertion	probably benign
RF028:Trappc9	UTSW	15	72801290	small insertion	probably benign
RF029:Trappc9	UTSW	15	72801323	small insertion	probably benign
RF030:Trappc9	UTSW	15	72801325	small insertion	probably benign
RF034:Trappc9	UTSW	15	72801298	small insertion	probably benign
RF036:Trappc9	UTSW	15	72801320	small insertion	probably benign
RF038:Trappc9	UTSW	15	72801323	small insertion	probably benign
RF040:Trappc9	UTSW	15	72801292	small insertion	probably benign
RF042:Trappc9	UTSW	15	72801283	small insertion	probably benign
RF049:Trappc9	UTSW	15	72801301	small insertion	probably benign
RF049:Trappc9	UTSW	15	72801306	small insertion	probably benign
RF053:Trappc9	UTSW	15	72801328	small insertion	probably benign
RF057:Trappc9	UTSW	15	72801295	small insertion	probably benign
RF063:Trappc9	UTSW	15	72801320	small insertion	probably benign
RF063:Trappc9	UTSW	15	72801324	small insertion	probably benign
Z1177:Trappc9	UTSW	15	73052162	missense	probably null	0.51

Predicted Primers

PCR Primer
(F):5'- AGGTTGGCAGGGTTTGAAAC -3'
(R):5'- GAAACTGGAAATGAGTCACCTG -3'

Sequencing Primer
(F):5'- AACATAGGTTCTGCCCCGC -3'
(R):5'- GCAGCTGTTTAATGTCAGG -3'

Posted On

2019-12-04