Mutagenetix > Incidental Mutation

Incidental Mutation 'R9323:Trappc12'

706342

Institutional Source

Beutler Lab

Gene Symbol

Trappc12

Ensembl Gene

ENSMUSG00000020628

Gene Name

trafficking protein particle complex 12

Synonyms

CGI-87, Ttc15, D930014A20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

R9323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28740627-28800471 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 28742491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020954] [ENSMUST00000020954] [ENSMUST00000020954] [ENSMUST00000168129] [ENSMUST00000168129] [ENSMUST00000168129]

AlphaFold

Q8K2L8

Predicted Effect

probably null
Transcript: ENSMUST00000020954

SMART Domains

Protein: ENSMUSP00000020954
Gene: ENSMUSG00000020628

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
low complexity region	232	245	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
TPR	607	640	3.67e-3	SMART
TPR	642	675	1.44e1	SMART
TPR	682	715	3.37e-2	SMART
TPR	716	749	2.99e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000020954

SMART Domains

Protein: ENSMUSP00000020954
Gene: ENSMUSG00000020628

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
low complexity region	232	245	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
TPR	607	640	3.67e-3	SMART
TPR	642	675	1.44e1	SMART
TPR	682	715	3.37e-2	SMART
TPR	716	749	2.99e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000020954

SMART Domains

Protein: ENSMUSP00000020954
Gene: ENSMUSG00000020628

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
low complexity region	232	245	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
TPR	607	640	3.67e-3	SMART
TPR	642	675	1.44e1	SMART
TPR	682	715	3.37e-2	SMART
TPR	716	749	2.99e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000168129

SMART Domains

Protein: ENSMUSP00000127752
Gene: ENSMUSG00000020628

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
low complexity region	232	245	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
TPR	607	640	3.67e-3	SMART
TPR	642	675	1.44e1	SMART
TPR	682	715	3.37e-2	SMART
TPR	716	749	2.99e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000168129

SMART Domains

Protein: ENSMUSP00000127752
Gene: ENSMUSG00000020628

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
low complexity region	232	245	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
TPR	607	640	3.67e-3	SMART
TPR	642	675	1.44e1	SMART
TPR	682	715	3.37e-2	SMART
TPR	716	749	2.99e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000168129

SMART Domains

Protein: ENSMUSP00000127752
Gene: ENSMUSG00000020628

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	183	196	N/A	INTRINSIC
low complexity region	232	245	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
TPR	607	640	3.67e-3	SMART
TPR	642	675	1.44e1	SMART
TPR	682	715	3.37e-2	SMART
TPR	716	749	2.99e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	G	A	16: 8,420,235 (GRCm39)	W178*	probably null	Het
Alx1	G	A	10: 102,858,124 (GRCm39)	R192*	probably null	Het
Apom	A	G	17: 35,350,633 (GRCm39)	C23R	probably damaging	Het
Asap2	A	G	12: 21,162,148 (GRCm39)	N35S	probably benign	Het
Atf6	A	T	1: 170,682,682 (GRCm39)	Y43*	probably null	Het
Atosa	C	T	9: 74,883,415 (GRCm39)		probably benign	Het
Bag4	T	C	8: 26,261,361 (GRCm39)	S127G	possibly damaging	Het
Bag4	G	T	8: 26,275,180 (GRCm39)	S7*	probably null	Het
Ccdc88b	A	G	19: 6,826,475 (GRCm39)	L1080P	probably damaging	Het
Cdcp3	T	A	7: 130,828,401 (GRCm39)	N285K	probably damaging	Het
Cdkl2	A	T	5: 92,168,107 (GRCm39)	D362E	probably benign	Het
Cep170	A	G	1: 176,586,068 (GRCm39)	S575P	probably benign	Het
Col4a2	C	T	8: 11,493,413 (GRCm39)	P1374L	possibly damaging	Het
Cpt2	T	C	4: 107,761,556 (GRCm39)	H617R	probably benign	Het
Cyp2d22	A	G	15: 82,258,207 (GRCm39)	S138P	probably damaging	Het
Cyp2j11	T	C	4: 96,195,619 (GRCm39)	D359G	probably benign	Het
Ddb2	T	C	2: 91,042,337 (GRCm39)	S419G	possibly damaging	Het
Dmrtc2	A	T	7: 24,572,341 (GRCm39)	I121F	probably benign	Het
Dus1l	C	T	11: 120,684,724 (GRCm39)	R149H	probably damaging	Het
Fam90a1a	T	A	8: 22,453,640 (GRCm39)	Y332N	probably benign	Het
Fbxo47	A	T	11: 97,770,254 (GRCm39)	V46D	probably benign	Het
Grep1	A	G	17: 23,937,387 (GRCm39)	S54P	unknown	Het
Grpel1	T	A	5: 36,628,007 (GRCm39)	V96E	possibly damaging	Het
Ifi207	A	T	1: 173,555,143 (GRCm39)	N853K	probably damaging	Het
Igkv4-80	C	T	6: 68,993,751 (GRCm39)	A47T	probably damaging	Het
Il1a	T	A	2: 129,149,826 (GRCm39)	I25F	probably benign	Het
Ireb2	T	A	9: 54,811,523 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,328,979 (GRCm39)	Y131C	probably damaging	Het
Kmt2a	T	C	9: 44,731,261 (GRCm39)		probably benign	Het
Lancl1	T	A	1: 67,077,794 (GRCm39)		probably benign	Het
Lpl	G	A	8: 69,340,196 (GRCm39)	V64M	possibly damaging	Het
Marchf10	T	C	11: 105,280,581 (GRCm39)	H568R	probably damaging	Het
Mib1	G	A	18: 10,775,685 (GRCm39)	V546M	probably damaging	Het
Mss51	A	T	14: 20,534,939 (GRCm39)	I277N	probably benign	Het
Mybpc1	A	G	10: 88,360,829 (GRCm39)		probably null	Het
Myct1	A	C	10: 5,554,195 (GRCm39)	I21L	probably benign	Het
Myo5c	C	A	9: 75,153,531 (GRCm39)	A139E	probably damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Npy2r	A	T	3: 82,447,728 (GRCm39)	I349N	possibly damaging	Het
Nrap	T	C	19: 56,378,255 (GRCm39)	I19V	probably benign	Het
Or10g7	T	C	9: 39,905,360 (GRCm39)	S85P	possibly damaging	Het
Or14j2	A	C	17: 37,886,135 (GRCm39)	Y60D	probably damaging	Het
Or52n20	T	C	7: 104,320,220 (GRCm39)	F104L	possibly damaging	Het
Or5p6	C	T	7: 107,631,230 (GRCm39)	V107I	probably benign	Het
Or6c3b	A	T	10: 129,527,829 (GRCm39)	V27D	probably benign	Het
Or8d23	T	C	9: 38,841,818 (GRCm39)	V117A	probably benign	Het
Pde6b	A	T	5: 108,551,298 (GRCm39)	N194I	probably damaging	Het
Polg	TCTGGATGA	TCTGGATGACTGGATGA	7: 79,114,779 (GRCm39)		probably null	Het
Polg	GA	GACTGGAGCA	7: 79,114,786 (GRCm39)		probably null	Het
Ptpn9	T	C	9: 56,934,701 (GRCm39)	M155T	possibly damaging	Het
Ret	A	G	6: 118,158,975 (GRCm39)	Y146H	probably benign	Het
Sdf2l1	T	C	16: 16,949,498 (GRCm39)	H116R	probably damaging	Het
Shld2	A	G	14: 33,981,596 (GRCm39)	V514A	probably damaging	Het
Slc37a1	T	C	17: 31,552,643 (GRCm39)	I316T	probably damaging	Het
Slc4a11	A	C	2: 130,528,830 (GRCm39)	L473R	possibly damaging	Het
Smg7	A	G	1: 152,731,753 (GRCm39)	M344T	probably benign	Het
Smg9	T	C	7: 24,114,465 (GRCm39)	L268P	probably damaging	Het
Tiparp	C	T	3: 65,439,272 (GRCm39)	T196I	probably benign	Het
Trappc9	A	T	15: 72,565,431 (GRCm39)	N953K	probably benign	Het
Trpa1	A	G	1: 14,968,564 (GRCm39)	V428A	probably benign	Het
Utp20	T	C	10: 88,583,170 (GRCm39)	R2728G	probably damaging	Het
Zfp612	A	G	8: 110,815,372 (GRCm39)	E193G	probably benign	Het

Other mutations in Trappc12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Trappc12	APN	12	28,787,835 (GRCm39)	missense	probably damaging	0.99
IGL01018:Trappc12	APN	12	28,741,853 (GRCm39)	splice site	probably benign
IGL01295:Trappc12	APN	12	28,796,761 (GRCm39)	missense	probably damaging	1.00
IGL01365:Trappc12	APN	12	28,797,401 (GRCm39)	missense	probably damaging	1.00
IGL01490:Trappc12	APN	12	28,796,914 (GRCm39)	missense	probably damaging	1.00
IGL01975:Trappc12	APN	12	28,742,491 (GRCm39)	critical splice donor site	probably null
IGL02851:Trappc12	APN	12	28,741,405 (GRCm39)	missense	probably damaging	0.98
IGL02885:Trappc12	APN	12	28,797,013 (GRCm39)	missense	probably benign
IGL03163:Trappc12	APN	12	28,796,653 (GRCm39)	missense	probably damaging	1.00
R0102:Trappc12	UTSW	12	28,796,751 (GRCm39)	missense	probably damaging	1.00
R0102:Trappc12	UTSW	12	28,796,751 (GRCm39)	missense	probably damaging	1.00
R0330:Trappc12	UTSW	12	28,797,259 (GRCm39)	missense	probably benign	0.00
R0517:Trappc12	UTSW	12	28,747,133 (GRCm39)	splice site	probably benign
R0837:Trappc12	UTSW	12	28,753,596 (GRCm39)	missense	possibly damaging	0.92
R1439:Trappc12	UTSW	12	28,797,160 (GRCm39)	missense	possibly damaging	0.96
R1477:Trappc12	UTSW	12	28,787,751 (GRCm39)	missense	probably benign	0.25
R1651:Trappc12	UTSW	12	28,741,776 (GRCm39)	missense	probably benign	0.32
R1899:Trappc12	UTSW	12	28,796,984 (GRCm39)	missense	probably damaging	0.97
R1900:Trappc12	UTSW	12	28,796,984 (GRCm39)	missense	probably damaging	0.97
R2133:Trappc12	UTSW	12	28,796,597 (GRCm39)	missense	probably benign	0.00
R2174:Trappc12	UTSW	12	28,797,380 (GRCm39)	missense	possibly damaging	0.94
R4449:Trappc12	UTSW	12	28,797,234 (GRCm39)	missense	probably benign	0.05
R5031:Trappc12	UTSW	12	28,742,512 (GRCm39)	missense	possibly damaging	0.86
R5209:Trappc12	UTSW	12	28,787,793 (GRCm39)	missense	probably benign	0.03
R5220:Trappc12	UTSW	12	28,796,696 (GRCm39)	missense	probably damaging	0.97
R5458:Trappc12	UTSW	12	28,796,389 (GRCm39)	missense	probably damaging	0.98
R5471:Trappc12	UTSW	12	28,741,499 (GRCm39)	missense	probably damaging	1.00
R5482:Trappc12	UTSW	12	28,741,324 (GRCm39)	missense	probably damaging	0.97
R5808:Trappc12	UTSW	12	28,796,863 (GRCm39)	missense	probably damaging	1.00
R5916:Trappc12	UTSW	12	28,741,513 (GRCm39)	missense	probably damaging	1.00
R5996:Trappc12	UTSW	12	28,797,113 (GRCm39)	missense	possibly damaging	0.83
R6378:Trappc12	UTSW	12	28,797,082 (GRCm39)	missense	probably damaging	0.97
R7669:Trappc12	UTSW	12	28,761,957 (GRCm39)	missense	probably benign	0.30
R9233:Trappc12	UTSW	12	28,772,414 (GRCm39)	missense	possibly damaging	0.88
R9361:Trappc12	UTSW	12	28,796,417 (GRCm39)	missense	probably damaging	0.99
R9550:Trappc12	UTSW	12	28,761,985 (GRCm39)	critical splice acceptor site	probably null
R9784:Trappc12	UTSW	12	28,797,457 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AGATGGCTCAGCAGGTTGAG -3'
(R):5'- TGACATGATACTGGGAACAACTG -3'

Sequencing Primer
(F):5'- TCAGCAGGTTGAGTCTCCC -3'
(R):5'- ACTGGGAACAACTGTGATTTTTAC -3'

Posted On

2022-04-18