Mutagenetix > Incidental Mutation

Incidental Mutation 'R6742:Trim43a'

530491

Institutional Source

Beutler Lab

Gene Symbol

Trim43a

Ensembl Gene

ENSMUSG00000090693

Gene Name

tripartite motif-containing 43A

Synonyms

Gm6021

MMRRC Submission

044859-MU

Accession Numbers

Essential gene?

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

Stock #

R6742 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88462944-88470872 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88470399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 402 (V402I)

Ref Sequence

ENSEMBL: ENSMUSP00000127527 (fasta)

Gene Model

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

AlphaFold

Q3TL54

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164661
AA Change: V402I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127527
Gene: ENSMUSG00000090693
AA Change: V402I

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

0.3254

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,654,995 (GRCm39)	R1440G	probably benign	Het
Abca13	T	A	11: 9,278,168 (GRCm39)	L3116Q	probably damaging	Het
Adgb	G	A	10: 10,287,593 (GRCm39)	H55Y	probably damaging	Het
AI182371	G	T	2: 34,974,717 (GRCm39)		probably benign	Het
Ank3	T	C	10: 69,827,412 (GRCm39)		probably benign	Het
Ccdc127	G	T	13: 74,501,042 (GRCm39)	G20W	probably damaging	Het
Ccdc149	G	A	5: 52,562,475 (GRCm39)	Q184*	probably null	Het
Cntrob	G	A	11: 69,213,749 (GRCm39)	P14S	probably damaging	Het
Dnah11	T	C	12: 118,077,629 (GRCm39)	E1288G	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Evpl	T	C	11: 116,113,640 (GRCm39)	D1350G	possibly damaging	Het
Fasn	T	C	11: 120,701,279 (GRCm39)	T1990A	probably damaging	Het
Itga2	T	A	13: 114,973,061 (GRCm39)	N1166I	possibly damaging	Het
Lmtk2	T	A	5: 144,085,175 (GRCm39)	C216S	probably damaging	Het
Lrp1b	T	C	2: 41,361,132 (GRCm39)	D557G	probably benign	Het
Lrrc32	T	C	7: 98,148,039 (GRCm39)	V273A	probably benign	Het
Nlrp4f	C	T	13: 65,335,254 (GRCm39)		probably null	Het
Ntng2	T	G	2: 29,090,940 (GRCm39)	M360L	probably benign	Het
Pik3c2b	A	G	1: 133,003,559 (GRCm39)	S504G	probably benign	Het
Ppfia4	A	C	1: 134,256,909 (GRCm39)	L104R	probably damaging	Het
Raph1	A	G	1: 60,564,879 (GRCm39)	S203P	probably damaging	Het
Rbl1	G	A	2: 157,011,918 (GRCm39)	T679I	probably benign	Het
Rnase4	G	T	14: 51,342,486 (GRCm39)	R70L	probably benign	Het
Rnf146	A	C	10: 29,223,528 (GRCm39)	D119E	probably damaging	Het
Rrp1b	A	G	17: 32,275,908 (GRCm39)	H485R	probably benign	Het
Rwdd4a	T	A	8: 48,000,998 (GRCm39)		probably null	Het
Scarf2	G	A	16: 17,624,351 (GRCm39)	C552Y	probably damaging	Het
Skic2	G	A	17: 35,064,166 (GRCm39)	R507*	probably null	Het
Sox10	T	C	15: 79,040,676 (GRCm39)	N127S	probably damaging	Het
Speer4a1	A	T	5: 26,241,054 (GRCm39)		probably null	Het
Tars1	A	T	15: 11,394,427 (GRCm39)	I70N	probably damaging	Het
Thsd7a	C	T	6: 12,408,815 (GRCm39)	V736M	probably damaging	Het
Timp3	G	A	10: 86,136,742 (GRCm39)	V9M	probably benign	Het
Tnfrsf1a	A	T	6: 125,333,911 (GRCm39)	N55Y	probably damaging	Het
Tshz2	A	G	2: 169,725,677 (GRCm39)	D91G	probably damaging	Het
Ubac1	T	C	2: 25,895,418 (GRCm39)	D345G	possibly damaging	Het
Usp4	G	A	9: 108,251,438 (GRCm39)	V538I	possibly damaging	Het
Vmn2r19	A	T	6: 123,306,917 (GRCm39)	Y475F	possibly damaging	Het
Vmn2r87	A	T	10: 130,308,396 (GRCm39)	V614E	probably damaging	Het
Wfdc2	A	T	2: 164,404,706 (GRCm39)	T21S	probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zfp78	A	G	7: 6,381,277 (GRCm39)	E109G	probably damaging	Het
Zfp873	C	A	10: 81,894,256 (GRCm39)	A19D	probably damaging	Het
Zfp935	T	A	13: 62,602,293 (GRCm39)	K302N	probably damaging	Het
Zfpm2	G	A	15: 40,965,114 (GRCm39)	S401N	probably benign	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
R5488:Trim43a	UTSW	9	88,464,229 (GRCm39)	missense	probably damaging	0.97
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
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'- AACCCATCGTGTTTCCTGGG -3'
(R):5'- AGCACTAGCATACTGGATTCC -3'

Sequencing Primer
(F):5'- CTTCTCCAGGGGAAAATACTACTGG -3'
(R):5'- CCAGCTTCCTATGATTATGTGTAGAC -3'

Posted On

2018-08-01