Mutagenetix > Incidental Mutation

Incidental Mutation 'R5488:Trim43a'

430473

Institutional Source

Beutler Lab

Gene Symbol

Trim43a

Ensembl Gene

ENSMUSG00000090693

Gene Name

tripartite motif-containing 43A

Synonyms

Gm6021

MMRRC Submission

043049-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R5488 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88462944-88470872 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88464229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 47 (I47F)

Ref Sequence

ENSEMBL: ENSMUSP00000127527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164661] [ENSMUST00000215498] [ENSMUST00000216686]

AlphaFold

Q3TL54

Predicted Effect

probably damaging
Transcript: ENSMUST00000164661
AA Change: I47F

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

SMART Domains

Protein: ENSMUSP00000127527
Gene: ENSMUSG00000090693
AA Change: I47F

Domain	Start	End	E-Value	Type
RING	16	56	9.6e-7	SMART
Blast:BBOX	88	129	1e-7	BLAST
PDB:2VOK\|B	328	445	5e-14	PDB
Blast:SPRY	335	441	1e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000215498

Predicted Effect

probably benign
Transcript: ENSMUST00000216686

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 95.1%
20x: 90.5%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,851,473 (GRCm39)	V817D	probably damaging	Het
Abca5	A	G	11: 110,183,009 (GRCm39)	V1016A	probably benign	Het
Ano2	G	T	6: 126,016,216 (GRCm39)	M916I	possibly damaging	Het
Aqr	T	C	2: 113,963,554 (GRCm39)	N632S	probably damaging	Het
Cd48	G	A	1: 171,523,273 (GRCm39)	V39I	possibly damaging	Het
Cdcp3	A	G	7: 130,848,324 (GRCm39)	D710G	probably damaging	Het
Cdk17	A	G	10: 93,068,274 (GRCm39)	T344A	probably damaging	Het
Chd8	A	T	14: 52,450,505 (GRCm39)		probably benign	Het
Col4a1	A	T	8: 11,362,550 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,258,318 (GRCm39)	R579H	probably damaging	Het
Cripto	G	A	9: 110,772,265 (GRCm39)	R44C	probably benign	Het
Cyp2c69	T	G	19: 39,839,603 (GRCm39)	Q340P	probably null	Het
D630003M21Rik	T	A	2: 158,058,941 (GRCm39)	T320S	probably benign	Het
D630045J12Rik	A	T	6: 38,173,782 (GRCm39)	S129T	possibly damaging	Het
Eif4a3l1	C	G	6: 136,306,555 (GRCm39)	R339G	probably damaging	Het
Fam13a	A	T	6: 59,001,303 (GRCm39)	L8Q	probably null	Het
Fam83b	T	C	9: 76,452,881 (GRCm39)	N62S	probably benign	Het
Foxred1	A	T	9: 35,121,266 (GRCm39)	V94E	probably damaging	Het
Gprc5a	T	C	6: 135,055,868 (GRCm39)	V105A	probably damaging	Het
Gvin3	T	A	7: 106,200,797 (GRCm39)		noncoding transcript	Het
Itga2	A	T	13: 114,979,971 (GRCm39)	W1077R	probably damaging	Het
Kat6b	A	G	14: 21,719,332 (GRCm39)	D1228G	probably damaging	Het
Kctd3	A	G	1: 188,713,563 (GRCm39)	Y391H	probably damaging	Het
Kdelr2	T	A	5: 143,389,784 (GRCm39)	I23N	probably damaging	Het
Kmt2a	A	T	9: 44,752,335 (GRCm39)		probably benign	Het
Lao1	A	G	4: 118,824,566 (GRCm39)	E216G	probably damaging	Het
Mark4	G	T	7: 19,163,532 (GRCm39)		probably null	Het
Mcm10	A	G	2: 4,996,929 (GRCm39)	W851R	probably damaging	Het
Mettl21e	T	C	1: 44,257,276 (GRCm39)	Y14C	probably benign	Het
Miga1	CACAACAACAACAACAACA	CACAACAACAACAACA	3: 152,039,083 (GRCm39)		probably benign	Het
Mmp20	A	G	9: 7,643,958 (GRCm39)		probably null	Het
Nlrp5	A	T	7: 23,117,359 (GRCm39)	D361V	probably benign	Het
Nrip3	T	C	7: 109,361,045 (GRCm39)	T210A	probably damaging	Het
Or12d2	T	C	17: 37,624,559 (GRCm39)	T239A	probably damaging	Het
Or52s1b	T	C	7: 102,822,658 (GRCm39)	Y62C	probably damaging	Het
Pcdh10	G	A	3: 45,335,803 (GRCm39)	G706S	probably damaging	Het
Pdzd2	G	A	15: 12,382,762 (GRCm39)	P1197L	probably benign	Het
Pfkfb3	T	C	2: 11,489,480 (GRCm39)	S273G	probably benign	Het
Pkn3	T	C	2: 29,978,596 (GRCm39)		probably null	Het
Rab40c	G	A	17: 26,109,643 (GRCm39)	T78I	probably damaging	Het
Rec8	A	T	14: 55,860,283 (GRCm39)	Q291L	probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sart3	A	G	5: 113,909,441 (GRCm39)	W86R	probably damaging	Het
Slc6a11	A	G	6: 114,220,855 (GRCm39)	D462G	probably damaging	Het
Syne2	A	G	12: 75,934,946 (GRCm39)	T143A	probably benign	Het
Tardbp	A	G	4: 148,703,097 (GRCm39)	F289S	probably benign	Het
Tdpoz1	T	A	3: 93,577,974 (GRCm39)	Y270F	possibly damaging	Het
Tmem117	ACCC	ACC	15: 94,992,698 (GRCm39)		probably null	Het
Vim	A	T	2: 13,580,392 (GRCm39)	T202S	probably benign	Het
Vps13b	A	T	15: 35,770,688 (GRCm39)	I2044L	probably benign	Het
Wdr5	T	G	2: 27,415,165 (GRCm39)	D192E	probably damaging	Het
Zmym2	A	G	14: 57,193,712 (GRCm39)	K1176E	possibly damaging	Het

Other mutations in Trim43a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02400:Trim43a	APN	9	88,464,165 (GRCm39)	missense	probably benign	0.00
IGL02864:Trim43a	APN	9	88,470,165 (GRCm39)	missense	probably benign	0.20
R0114:Trim43a	UTSW	9	88,466,213 (GRCm39)	missense	probably damaging	1.00
R0436:Trim43a	UTSW	9	88,470,240 (GRCm39)	missense	probably damaging	1.00
R0514:Trim43a	UTSW	9	88,466,389 (GRCm39)	nonsense	probably null
R0682:Trim43a	UTSW	9	88,464,199 (GRCm39)	missense	probably benign	0.08
R0709:Trim43a	UTSW	9	88,464,199 (GRCm39)	missense	probably benign	0.08
R0727:Trim43a	UTSW	9	88,464,199 (GRCm39)	missense	probably benign	0.08
R1237:Trim43a	UTSW	9	88,465,042 (GRCm39)	intron	probably benign
R1239:Trim43a	UTSW	9	88,465,042 (GRCm39)	intron	probably benign
R1445:Trim43a	UTSW	9	88,465,042 (GRCm39)	intron	probably benign
R1448:Trim43a	UTSW	9	88,464,146 (GRCm39)	missense	probably damaging	1.00
R1584:Trim43a	UTSW	9	88,470,211 (GRCm39)	missense	probably damaging	1.00
R1925:Trim43a	UTSW	9	88,464,371 (GRCm39)	missense	probably benign	0.08
R1992:Trim43a	UTSW	9	88,466,312 (GRCm39)	missense	probably damaging	1.00
R2074:Trim43a	UTSW	9	88,468,147 (GRCm39)	missense	possibly damaging	0.91
R3927:Trim43a	UTSW	9	88,465,042 (GRCm39)	intron	probably benign
R3930:Trim43a	UTSW	9	88,465,131 (GRCm39)	missense	probably benign	0.04
R4418:Trim43a	UTSW	9	88,464,206 (GRCm39)	missense	probably damaging	1.00
R5489:Trim43a	UTSW	9	88,464,229 (GRCm39)	missense	probably damaging	0.97
R6498:Trim43a	UTSW	9	88,464,395 (GRCm39)	missense	probably damaging	1.00
R6742:Trim43a	UTSW	9	88,470,399 (GRCm39)	missense	possibly damaging	0.92
R7535:Trim43a	UTSW	9	88,470,201 (GRCm39)	missense	probably damaging	0.99
R7539:Trim43a	UTSW	9	88,465,096 (GRCm39)	missense	probably benign	0.08
R7580:Trim43a	UTSW	9	88,465,042 (GRCm39)	intron	probably benign
R7943:Trim43a	UTSW	9	88,464,238 (GRCm39)	missense	probably benign	0.16
R8073:Trim43a	UTSW	9	88,464,490 (GRCm39)	missense	possibly damaging	0.71
R8983:Trim43a	UTSW	9	88,464,404 (GRCm39)	missense	probably benign	0.23
R9030:Trim43a	UTSW	9	88,465,042 (GRCm39)	intron	probably benign
R9646:Trim43a	UTSW	9	88,466,392 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CTCTCTGGCCCAATAATAACACTG -3'
(R):5'- TCCTGGGAGTCAGAACACAG -3'

Sequencing Primer
(F):5'- AGGAAACACTCACCTGCT -3'
(R):5'- CAGAGGAGGATCTTGCTCTTATCAC -3'

Posted On

2016-10-05