Mutagenetix > Incidental Mutation

Incidental Mutation 'R1119:Trappc9'

97788

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

039192-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72589620-73061204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73025967 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 377 (R377W)

Ref Sequence

ENSEMBL: ENSMUSP00000131997 (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: R189W

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023276
Gene: ENSMUSG00000047921
AA Change: R189W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000089770
AA Change: R368W

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087202
Gene: ENSMUSG00000047921
AA Change: R368W

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: R368W

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131295
Gene: ENSMUSG00000047921
AA Change: R368W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170633
AA Change: R377W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131997
Gene: ENSMUSG00000047921
AA Change: R377W

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

possibly damaging
Transcript: ENSMUST00000228960
AA Change: R368W

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230270

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.4%

Validation Efficiency

100% (51/51)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	G	3: 36,987,045 (GRCm38)	V2524G	probably damaging	Het
Adamtsl3	A	C	7: 82,540,317 (GRCm38)	E583A	probably damaging	Het
Aoah	T	A	13: 20,914,938 (GRCm38)		probably benign	Het
Atf7ip2	A	G	16: 10,240,612 (GRCm38)	K305R	possibly damaging	Het
Ccdc129	T	C	6: 55,889,170 (GRCm38)	F183L	probably damaging	Het
Cd200r2	A	G	16: 44,909,606 (GRCm38)	N171S	probably damaging	Het
Cfap57	G	A	4: 118,606,676 (GRCm38)	Q327*	probably null	Het
Ckap2l	A	T	2: 129,272,572 (GRCm38)		probably benign	Het
Cul2	A	G	18: 3,419,335 (GRCm38)		probably benign	Het
Ddx60	G	A	8: 61,942,544 (GRCm38)	V172M	probably damaging	Het
Drp2	T	C	X: 134,441,322 (GRCm38)	L545P	probably damaging	Het
Ezh1	A	G	11: 101,210,535 (GRCm38)		probably benign	Het
Gipc2	A	G	3: 152,094,196 (GRCm38)	F299S	probably damaging	Het
Gsk3b	T	C	16: 38,207,984 (GRCm38)		probably benign	Het
Gtf3c3	C	T	1: 54,417,778 (GRCm38)	A488T	probably damaging	Het
Hikeshi	A	G	7: 89,935,730 (GRCm38)	S89P	probably benign	Het
Hmcn1	C	T	1: 150,618,928 (GRCm38)	A4137T	possibly damaging	Het
Larp1b	C	A	3: 41,033,528 (GRCm38)	R62S	possibly damaging	Het
Lgr5	A	T	10: 115,460,811 (GRCm38)		probably null	Het
Lpin1	C	A	12: 16,563,721 (GRCm38)	D449Y	probably damaging	Het
Macrod2	A	T	2: 140,400,906 (GRCm38)	I31L	probably benign	Het
Meig1	T	C	2: 3,409,274 (GRCm38)	D63G	probably damaging	Het
Ndufa9	A	T	6: 126,822,068 (GRCm38)	L362Q	probably damaging	Het
Nlrp9c	A	T	7: 26,384,437 (GRCm38)	D572E	probably benign	Het
Nxpe5	G	A	5: 138,239,396 (GRCm38)	D61N	probably benign	Het
Ogdh	T	A	11: 6,340,544 (GRCm38)	H376Q	probably damaging	Het
P4ha3	T	C	7: 100,313,328 (GRCm38)	I431T	probably damaging	Het
Pcdhb14	G	A	18: 37,448,587 (GRCm38)	V249M	probably damaging	Het
Pcnp	A	G	16: 56,024,391 (GRCm38)	S49P	probably damaging	Het
Pik3r6	C	T	11: 68,545,872 (GRCm38)	T654I	probably benign	Het
Rptn	A	G	3: 93,396,245 (GRCm38)	Y295C	possibly damaging	Het
Sec16b	A	G	1: 157,564,834 (GRCm38)	D924G	possibly damaging	Het
Setd1b	C	A	5: 123,147,716 (GRCm38)	T275K	unknown	Het
Sgcb	T	A	5: 73,644,414 (GRCm38)	K36I	probably damaging	Het
Smg7	A	T	1: 152,866,575 (GRCm38)		probably benign	Het
Sned1	G	A	1: 93,281,654 (GRCm38)	V830M	possibly damaging	Het
Stab2	T	C	10: 86,859,755 (GRCm38)	D599G	possibly damaging	Het
Stk36	A	G	1: 74,632,766 (GRCm38)	E875G	probably benign	Het
Tagln3	C	A	16: 45,724,272 (GRCm38)	R12L	probably damaging	Het
Tax1bp1	C	A	6: 52,741,948 (GRCm38)		probably benign	Het
Thnsl1	A	G	2: 21,213,046 (GRCm38)	N16S	probably damaging	Het
Ticrr	C	T	7: 79,693,953 (GRCm38)	P1189S	probably benign	Het
Tnxb	G	A	17: 34,685,043 (GRCm38)	V1053M	probably damaging	Het
Tpp2	T	C	1: 43,992,396 (GRCm38)		probably null	Het
Vmn2r60	A	T	7: 42,194,941 (GRCm38)	Q576L	possibly damaging	Het
Zfp62	G	T	11: 49,216,690 (GRCm38)	R536L	probably damaging	Het
Zfp958	A	T	8: 4,626,169 (GRCm38)	N46Y	possibly damaging	Het

Other mutations in Trappc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Trappc9	APN	15	73,026,026 (GRCm38)	missense	possibly damaging	0.79
IGL01348:Trappc9	APN	15	72,937,009 (GRCm38)	missense	possibly damaging	0.64
IGL01367:Trappc9	APN	15	72,590,153 (GRCm38)	missense	probably benign	0.31
IGL01521:Trappc9	APN	15	73,052,167 (GRCm38)	missense	probably damaging	1.00
IGL01726:Trappc9	APN	15	72,946,122 (GRCm38)	missense	probably damaging	0.98
IGL01881:Trappc9	APN	15	72,999,992 (GRCm38)	missense	probably damaging	1.00
IGL02214:Trappc9	APN	15	73,012,882 (GRCm38)	nonsense	probably null
IGL02693:Trappc9	APN	15	72,963,693 (GRCm38)	splice site	probably benign
IGL03229:Trappc9	APN	15	73,058,456 (GRCm38)	missense	probably damaging	1.00
basilio	UTSW	15	73,058,393 (GRCm38)	missense	probably damaging	1.00
Boomboom	UTSW	15	72,736,869 (GRCm38)	nonsense	probably null
bronto	UTSW	15	73,058,238 (GRCm38)	nonsense	probably null
Earl	UTSW	15	72,736,777 (GRCm38)	nonsense	probably null
Sotto_aceto	UTSW	15	72,685,339 (GRCm38)	missense	probably damaging	0.99
P0026:Trappc9	UTSW	15	72,953,082 (GRCm38)	missense	probably damaging	1.00
PIT4453001:Trappc9	UTSW	15	73,031,598 (GRCm38)	frame shift	probably null
PIT4519001:Trappc9	UTSW	15	72,953,094 (GRCm38)	missense	probably benign
R0001:Trappc9	UTSW	15	72,963,662 (GRCm38)	missense	probably damaging	1.00
R0094:Trappc9	UTSW	15	72,894,929 (GRCm38)	intron	probably benign
R0745:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R0747:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R0800:Trappc9	UTSW	15	72,953,132 (GRCm38)	splice site	probably benign
R0816:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R0819:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R0820:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R0893:Trappc9	UTSW	15	72,590,107 (GRCm38)	missense	probably damaging	1.00
R0976:Trappc9	UTSW	15	72,999,974 (GRCm38)	missense	probably damaging	0.99
R1266:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R1453:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R1454:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R1531:Trappc9	UTSW	15	72,693,548 (GRCm38)	nonsense	probably null
R1543:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R1563:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R1565:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R1600:Trappc9	UTSW	15	72,937,109 (GRCm38)	nonsense	probably null
R1712:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R1756:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R1789:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R1978:Trappc9	UTSW	15	73,000,025 (GRCm38)	missense	probably damaging	1.00
R2001:Trappc9	UTSW	15	73,058,036 (GRCm38)	missense	probably damaging	0.99
R2312:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R2334:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R2926:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R3123:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R3124:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R3125:Trappc9	UTSW	15	73,025,967 (GRCm38)	missense	probably damaging	1.00
R3813:Trappc9	UTSW	15	73,058,393 (GRCm38)	missense	probably damaging	1.00
R4012:Trappc9	UTSW	15	73,031,623 (GRCm38)	missense	possibly damaging	0.95
R4080:Trappc9	UTSW	15	72,941,947 (GRCm38)	missense	probably damaging	1.00
R4282:Trappc9	UTSW	15	72,590,792 (GRCm38)	missense	probably damaging	1.00
R4572:Trappc9	UTSW	15	72,937,067 (GRCm38)	missense	possibly damaging	0.61
R4739:Trappc9	UTSW	15	72,937,060 (GRCm38)	missense	probably damaging	0.97
R4959:Trappc9	UTSW	15	72,937,056 (GRCm38)	missense	probably damaging	1.00
R4973:Trappc9	UTSW	15	72,937,056 (GRCm38)	missense	probably damaging	1.00
R5123:Trappc9	UTSW	15	72,913,366 (GRCm38)	intron	probably benign
R5128:Trappc9	UTSW	15	73,058,393 (GRCm38)	missense	probably damaging	1.00
R5228:Trappc9	UTSW	15	73,057,995 (GRCm38)	missense	probably damaging	1.00
R5362:Trappc9	UTSW	15	73,058,217 (GRCm38)	missense	possibly damaging	0.68
R5802:Trappc9	UTSW	15	72,685,339 (GRCm38)	missense	probably damaging	0.99
R6032:Trappc9	UTSW	15	72,925,530 (GRCm38)	missense	probably benign	0.43
R6032:Trappc9	UTSW	15	72,925,530 (GRCm38)	missense	probably benign	0.43
R6154:Trappc9	UTSW	15	73,058,081 (GRCm38)	missense	probably benign	0.03
R6372:Trappc9	UTSW	15	72,590,074 (GRCm38)	missense	possibly damaging	0.75
R6661:Trappc9	UTSW	15	72,590,144 (GRCm38)	missense	possibly damaging	0.55
R6864:Trappc9	UTSW	15	72,937,162 (GRCm38)	splice site	probably null
R6893:Trappc9	UTSW	15	72,925,650 (GRCm38)	missense	possibly damaging	0.93
R7099:Trappc9	UTSW	15	72,693,619 (GRCm38)	missense	probably benign	0.00
R7276:Trappc9	UTSW	15	73,052,270 (GRCm38)	missense	probably damaging	0.99
R7349:Trappc9	UTSW	15	72,736,869 (GRCm38)	nonsense	probably null
R8260:Trappc9	UTSW	15	72,941,909 (GRCm38)	nonsense	probably null
R8399:Trappc9	UTSW	15	73,052,282 (GRCm38)	missense	probably damaging	1.00
R8683:Trappc9	UTSW	15	73,012,815 (GRCm38)	missense	probably benign	0.26
R8839:Trappc9	UTSW	15	73,058,238 (GRCm38)	nonsense	probably null
R8945:Trappc9	UTSW	15	73,058,096 (GRCm38)	missense	probably benign
R9083:Trappc9	UTSW	15	72,736,777 (GRCm38)	nonsense	probably null
R9323:Trappc9	UTSW	15	72,693,582 (GRCm38)	missense	probably benign	0.41
R9329:Trappc9	UTSW	15	72,801,353 (GRCm38)	missense	unknown
R9366:Trappc9	UTSW	15	72,937,088 (GRCm38)	missense	probably benign
R9723:Trappc9	UTSW	15	72,590,114 (GRCm38)	missense	possibly damaging	0.87
RF008:Trappc9	UTSW	15	72,801,289 (GRCm38)	small insertion	probably benign
RF009:Trappc9	UTSW	15	72,801,287 (GRCm38)	small insertion	probably benign
RF014:Trappc9	UTSW	15	72,801,283 (GRCm38)	small insertion	probably benign
RF016:Trappc9	UTSW	15	72,801,289 (GRCm38)	small insertion	probably benign
RF023:Trappc9	UTSW	15	72,801,331 (GRCm38)	small insertion	probably benign
RF023:Trappc9	UTSW	15	72,801,324 (GRCm38)	small insertion	probably benign
RF028:Trappc9	UTSW	15	72,801,290 (GRCm38)	small insertion	probably benign
RF029:Trappc9	UTSW	15	72,801,323 (GRCm38)	small insertion	probably benign
RF030:Trappc9	UTSW	15	72,801,325 (GRCm38)	small insertion	probably benign
RF034:Trappc9	UTSW	15	72,801,298 (GRCm38)	small insertion	probably benign
RF036:Trappc9	UTSW	15	72,801,320 (GRCm38)	small insertion	probably benign
RF038:Trappc9	UTSW	15	72,801,323 (GRCm38)	small insertion	probably benign
RF040:Trappc9	UTSW	15	72,801,292 (GRCm38)	small insertion	probably benign
RF042:Trappc9	UTSW	15	72,801,283 (GRCm38)	small insertion	probably benign
RF043:Trappc9	UTSW	15	72,801,305 (GRCm38)	small insertion	probably benign
RF049:Trappc9	UTSW	15	72,801,306 (GRCm38)	small insertion	probably benign
RF049:Trappc9	UTSW	15	72,801,301 (GRCm38)	small insertion	probably benign
RF053:Trappc9	UTSW	15	72,801,328 (GRCm38)	small insertion	probably benign
RF057:Trappc9	UTSW	15	72,801,295 (GRCm38)	small insertion	probably benign
RF063:Trappc9	UTSW	15	72,801,324 (GRCm38)	small insertion	probably benign
RF063:Trappc9	UTSW	15	72,801,320 (GRCm38)	small insertion	probably benign
Z1177:Trappc9	UTSW	15	73,052,162 (GRCm38)	missense	probably null	0.51

Predicted Primers

PCR Primer
(F):5'- GCATCTCACAAGTGACAAAGGCAAG -3'
(R):5'- TTGTGCCCGTTAAGACAGACCCTC -3'

Sequencing Primer
(F):5'- caaatcccagcaaccacac -3'
(R):5'- TCGGAAATAGCTTTCCCCGAG -3'

Posted On

2014-01-05