Mutagenetix > Incidental Mutation

Incidental Mutation 'RF023:Trappc9'

604015

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 #

RF023 (G1)

Quality Score

213.468

Status

Not validated

Chromosome

Chromosomal Location

72461469-72933053 bp(-) (GRCm39)

Type of Mutation

small insertion (5 aa in frame mutation)

DNA Base Change (assembly)

CTGCTGCT to CTGCTGCTGCTGCTGATGCTGCT at 72673173 bp (GRCm39)

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

96% (24/25)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,818 (GRCm39)		probably benign	Het
5430401F13Rik	AAAAACAGAAAGGAAAAGGTGGCCAG	AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,841 (GRCm39)		probably benign	Het
A030005L19Rik	TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG	TGGCTGTGGCTGTGG	1: 82,891,117 (GRCm39)		probably benign	Het
Amot	GCAACAGCAAC	GC	X: 144,233,999 (GRCm39)		probably benign	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Arhgef5	T	A	6: 43,256,407 (GRCm39)	S1172T	probably damaging	Het
Bltp1	T	TTATTATTATTATTAG	3: 37,104,909 (GRCm39)		probably benign	Het
Cacna2d4	G	A	6: 119,245,191 (GRCm39)	V300I	probably benign	Het
Calhm1	GTGGC	GTGGCTGTGGCTTTGGC	19: 47,129,712 (GRCm39)		probably benign	Het
Camk2b	T	C	11: 5,922,301 (GRCm39)	T516A	probably damaging	Het
Ccdc170	CCA	CCAACA	10: 4,511,018 (GRCm39)		probably benign	Het
Cdhr3	G	T	12: 33,110,348 (GRCm39)	S312Y	probably damaging	Het
Cdk1	C	T	10: 69,176,328 (GRCm39)	G260S	possibly damaging	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,865,876 (GRCm39)		probably benign	Het
Cenpp	A	T	13: 49,803,620 (GRCm39)	V88E	probably benign	Het
Cfap46	TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC	TCTTCTCCTTCTCCTTCTCC	7: 139,218,834 (GRCm39)			Het
Dnah11	T	A	12: 117,918,585 (GRCm39)	R3449W	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,821,427 (GRCm39)		probably null	Het
E4f1	AGGC	AGGCGGC	17: 24,674,157 (GRCm39)		probably benign	Het
Efhd2	CCGCCG	CCGCCGGCGCCG	4: 141,602,073 (GRCm39)		probably benign	Het
Entpd2	CTT	CTTT	2: 25,290,907 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,322,378 (GRCm39)		probably null	Het
Exd2	GCAGCAGCCGCAGCCACAGC	GCAGC	12: 80,522,689 (GRCm39)		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 71,313,660 (GRCm39)		probably benign	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
Herc1	G	C	9: 66,365,616 (GRCm39)	G324R		Het
Hsdl2	CAGCCACAGCTGCAG	CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG	4: 59,610,644 (GRCm39)		probably benign	Het
Il2	GCTTGAAG	GCTTGAAGCGGGCCTTGAAG	3: 37,179,969 (GRCm39)		probably benign	Het
Krtap28-10	CAG	CAGCCCTAG	1: 83,019,867 (GRCm39)		probably null	Het
Krtap28-10	ACAGC	ACAGCCACGGCCACCGCAGC	1: 83,020,007 (GRCm39)		probably benign	Het
Krtap4-9	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	11: 99,676,217 (GRCm39)		probably benign	Het
Lce1m	TGCTGCC	TGCTGCCCCCGCCGCTGCC	3: 92,925,587 (GRCm39)		probably benign	Het
Lrch1	TGGTGGTG	T	14: 75,185,006 (GRCm39)		probably null	Het
Mgam	C	T	6: 40,657,642 (GRCm39)	T999I	probably benign	Het
Mrtfa	T	C	15: 80,900,057 (GRCm39)	E740G	probably damaging	Het
Nek1	A	G	8: 61,525,779 (GRCm39)		probably null	Het
Phactr2	T	A	10: 13,121,178 (GRCm39)	Q503H	probably benign	Het
Ptprd	T	C	4: 76,046,802 (GRCm39)	Y241C	probably damaging	Het
Rad51ap2	T	G	12: 11,508,076 (GRCm39)	V666G	possibly damaging	Het
Reep1	CC	CCCGAC	6: 71,684,952 (GRCm39)		probably null	Het
Rfx4	CTCTCTCTCT	CTCTCTCTCTCTCTCTCTGTCTCTCTCT	10: 84,694,349 (GRCm39)		probably benign	Het
Rnf126	AGGACGAGG	AG	10: 79,594,977 (GRCm39)		probably null	Het
Rnpc3	A	T	3: 113,413,723 (GRCm39)	S240T	probably damaging	Het
Rtbdn	GCAGCG	GCAGCGTCAGCG	8: 85,682,795 (GRCm39)		probably benign	Het
Sec31b	G	T	19: 44,524,226 (GRCm39)	A138D	probably damaging	Het
Syne1	A	T	10: 5,205,482 (GRCm39)	W3495R	probably damaging	Het
Tgoln1	CC	CCCGTGGGCTTGCCAGAATTACCTTC	6: 72,593,063 (GRCm39)		probably benign	Het
Tmtc3	T	C	10: 100,313,728 (GRCm39)	H48R	probably benign	Het
Vsig2	T	A	9: 37,450,559 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,300,255 (GRCm39)	T152A	probably benign	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
IGL02214:Trappc9	APN	15	72,884,731 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TCACATACATCTGCCAGCACTG -3'
(R):5'- AAGGATCCTAGTGCTGGACTTG -3'

Sequencing Primer
(F):5'- CAGCACTGCCCCTCCAG -3'
(R):5'- CAGCTGTTTAATGTCAGGC -3'

Posted On

2019-12-04