Mutagenetix > Incidental Mutation

Incidental Mutation 'R8399:Trappc9'

647788

Institutional Source

Beutler Lab

Gene Symbol

Trappc9

Ensembl Gene

ENSMUSG00000047921

Gene Name

trafficking protein particle complex 9

Synonyms

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

MMRRC Submission

067762-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72461469-72933053 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72924131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 204 (R204C)

Ref Sequence

ENSEMBL: ENSMUSP00000087202 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023276
AA Change: R16C

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

SMART Domains

Protein: ENSMUSP00000023276
Gene: ENSMUSG00000047921
AA Change: R16C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000089770
AA Change: R204C

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

SMART Domains

Protein: ENSMUSP00000087202
Gene: ENSMUSG00000047921
AA Change: R204C

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 damaging
Transcript: ENSMUST00000168191
AA Change: R204C

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

SMART Domains

Protein: ENSMUSP00000131295
Gene: ENSMUSG00000047921
AA Change: R204C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170633
AA Change: R204C

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

SMART Domains

Protein: ENSMUSP00000131997
Gene: ENSMUSG00000047921
AA Change: R204C

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 damaging
Transcript: ENSMUST00000228960
AA Change: R204C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,637,289 (GRCm39)	V3384D	possibly damaging	Het
Apba3	C	A	10: 81,104,832 (GRCm39)	T35N	probably benign	Het
Bcl6	T	C	16: 23,791,698 (GRCm39)	M219V	probably benign	Het
Bco2	T	A	9: 50,452,418 (GRCm39)	T217S	probably benign	Het
C1s1	C	T	6: 124,512,252 (GRCm39)	V277I	probably benign	Het
Ccdc162	T	A	10: 41,415,517 (GRCm39)	R2149W	probably damaging	Het
Cers6	T	C	2: 68,692,115 (GRCm39)	F46L	probably benign	Het
Chpf	T	C	1: 75,452,864 (GRCm39)	I359V	probably benign	Het
Chrnb4	A	C	9: 54,951,107 (GRCm39)	L52R	probably benign	Het
Cox6a1	T	C	5: 115,483,958 (GRCm39)	T95A	probably damaging	Het
Def8	T	A	8: 124,182,238 (GRCm39)	Y197*	probably null	Het
Dmbt1	C	G	7: 130,684,317 (GRCm39)	D778E	unknown	Het
Dnaaf3	C	T	7: 4,526,936 (GRCm39)		probably null	Het
Dnm1l	T	A	16: 16,139,536 (GRCm39)	H484L	probably damaging	Het
Eml1	G	A	12: 108,504,390 (GRCm39)	S783N	possibly damaging	Het
Frmd4a	T	C	2: 4,577,244 (GRCm39)	S367P	probably damaging	Het
Hck	A	C	2: 152,980,237 (GRCm39)	K355N	probably damaging	Het
Hexim2	G	T	11: 103,029,329 (GRCm39)	R127L	probably damaging	Het
Hivep2	T	C	10: 14,008,178 (GRCm39)	L1592P	possibly damaging	Het
Htr1d	G	A	4: 136,170,686 (GRCm39)	G305E	probably damaging	Het
Ifi207	G	A	1: 173,557,844 (GRCm39)	S298L	unknown	Het
Ighv1-11	A	G	12: 114,576,047 (GRCm39)	V56A	possibly damaging	Het
Ighv7-1	G	A	12: 113,860,532 (GRCm39)	T12I	unknown	Het
Kctd14	T	C	7: 97,106,811 (GRCm39)	L22P	probably damaging	Het
Klra17	T	C	6: 129,851,900 (GRCm39)		probably benign	Het
Kndc1	C	T	7: 139,493,434 (GRCm39)	R467W	probably damaging	Het
Maf	T	A	8: 116,433,251 (GRCm39)	I118F	unknown	Het
Mppe1	T	C	18: 67,358,946 (GRCm39)	T341A	probably benign	Het
Mtmr2	T	A	9: 13,703,363 (GRCm39)	V186E	probably benign	Het
Nedd9	G	T	13: 41,471,950 (GRCm39)	Y176*	probably null	Het
Omd	A	G	13: 49,743,345 (GRCm39)	I132V	possibly damaging	Het
Or12e10	A	C	2: 87,640,568 (GRCm39)	M135L	probably damaging	Het
Or4a39	T	C	2: 89,237,028 (GRCm39)	T132A	probably benign	Het
Pcnx4	T	A	12: 72,620,985 (GRCm39)	M935K	probably benign	Het
Pecr	G	A	1: 72,306,624 (GRCm39)	T219I	probably benign	Het
Pkd1l3	C	T	8: 110,350,520 (GRCm39)	P455L	possibly damaging	Het
Plcg2	T	C	8: 118,323,101 (GRCm39)	Y719H	probably damaging	Het
Plk4	C	T	3: 40,763,265 (GRCm39)	R479*	probably null	Het
Pms1	T	A	1: 53,307,091 (GRCm39)		probably null	Het
Raph1	C	T	1: 60,528,477 (GRCm39)	S928N	unknown	Het
Rtp4	G	T	16: 23,339,164 (GRCm39)		probably benign	Het
Skor1	C	T	9: 63,052,440 (GRCm39)	V510I	possibly damaging	Het
Smg1	T	C	7: 117,789,794 (GRCm39)	T699A	unknown	Het
Tcp11l1	T	C	2: 104,515,720 (GRCm39)	D381G	probably benign	Het
Tnik	T	A	3: 28,548,159 (GRCm39)	M56K	unknown	Het
Trmt10b	A	T	4: 45,305,870 (GRCm39)	M184L	possibly damaging	Het
Vmn1r224	T	A	17: 20,640,011 (GRCm39)	I196N	probably damaging	Het
Vmn1r49	A	T	6: 90,049,689 (GRCm39)	C104*	probably null	Het
Vmn2r35	A	C	7: 7,819,897 (GRCm39)	S124R	probably benign	Het
Wdr62	T	C	7: 29,957,486 (GRCm39)	E547G	probably damaging	Het
Zfp68	A	T	5: 138,606,082 (GRCm39)	D80E	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCCCACAGAGCAATTAGC -3'
(R):5'- AATGACTGCTGCTGGCTTC -3'

Sequencing Primer
(F):5'- GTGCCATTTCCTCATAGTCAAATAC -3'
(R):5'- GCTGGCTTCCAACCTTAGAG -3'

Posted On

2020-09-02