Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Trim41'

405365

Institutional Source

Beutler Lab

Gene Symbol

Trim41

Ensembl Gene

ENSMUSG00000040365

Gene Name

tripartite motif-containing 41

Synonyms

RINCK

MMRRC Submission

042878-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.411) question?

Stock #

R5295 (G1)

Quality Score

108

Status

Not validated

Chromosome

Chromosomal Location

48697231-48708180 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

TTCCTCCTCCTCCTCCTCCTCCTCCTCC to TTCCTCCTCCTCCTCCTCCTCCTCC at 48707084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047145] [ENSMUST00000131888] [ENSMUST00000140800]

AlphaFold

Q5NCC3

Predicted Effect

probably benign
Transcript: ENSMUST00000047145

SMART Domains

Protein: ENSMUSP00000037055
Gene: ENSMUSG00000040365

Domain	Start	End	E-Value	Type
RING	20	186	2.91e-6	SMART
BBOX	222	263	3.31e-10	SMART
coiled coil region	281	313	N/A	INTRINSIC
coiled coil region	336	374	N/A	INTRINSIC
PRY	430	482	2.04e-19	SMART
Pfam:SPRY	485	629	6.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131888

SMART Domains

Protein: ENSMUSP00000119707
Gene: ENSMUSG00000040365

Domain	Start	End	E-Value	Type
Pfam:DUF3631	9	124	9.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138019

SMART Domains

Protein: ENSMUSP00000118789
Gene: ENSMUSG00000040365

Domain	Start	End	E-Value	Type
Blast:RING	2	45	2e-6	BLAST
SCOP:d1jm7b_	41	75	1e-4	SMART
BBOX	81	122	3.31e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140800

SMART Domains

Protein: ENSMUSP00000121705
Gene: ENSMUSG00000040365

Domain	Start	End	E-Value	Type
BBOX	19	60	3.31e-10	SMART
coiled coil region	78	110	N/A	INTRINSIC
coiled coil region	133	161	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif (TRIM) family. The TRIM family is characterized by a signature motif composed of a RING finger, one or more B-box domains, and a coiled-coil region. This encoded protein may play a role in protein kinase C signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	T	18: 65,438,109 (GRCm39)	E1095K	probably damaging	Het
Alpl	T	C	4: 137,476,919 (GRCm39)	T245A	probably benign	Het
Ank2	T	C	3: 126,825,832 (GRCm39)	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,618,777 (GRCm39)		probably null	Het
Atp5f1c	T	C	2: 10,073,544 (GRCm39)	R10G	possibly damaging	Het
Cbln3	T	C	14: 56,120,920 (GRCm39)		probably null	Het
Ccr10	C	T	11: 101,065,111 (GRCm39)	V140M	possibly damaging	Het
Cep135	T	A	5: 76,741,051 (GRCm39)	H42Q	possibly damaging	Het
Commd5	C	A	15: 76,785,152 (GRCm39)	T183K	possibly damaging	Het
Dnajc16	T	C	4: 141,495,239 (GRCm39)	E493G	possibly damaging	Het
Ears2	T	C	7: 121,647,421 (GRCm39)	R288G	probably damaging	Het
Elovl4	G	A	9: 83,662,714 (GRCm39)	P273L	possibly damaging	Het
Fam186b	T	A	15: 99,181,755 (GRCm39)	I148F	probably damaging	Het
Fryl	T	C	5: 73,270,134 (GRCm39)	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,280,751 (GRCm39)		noncoding transcript	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Ighv1-77	T	A	12: 115,825,528 (GRCm39)	S104C	probably damaging	Het
Kcnv1	T	C	15: 44,977,987 (GRCm39)	D17G	unknown	Het
Lmtk3	G	A	7: 45,440,722 (GRCm39)	D243N	probably damaging	Het
Lrrc7	T	A	3: 157,876,376 (GRCm39)	K571N	probably damaging	Het
Lsm7	T	C	10: 80,690,454 (GRCm39)	E32G	probably damaging	Het
Ly6f	A	G	15: 75,143,488 (GRCm39)	Q65R	probably benign	Het
Perm1	T	C	4: 156,301,975 (GRCm39)	L173P	probably benign	Het
Plvap	T	C	8: 71,964,314 (GRCm39)	Q16R	probably benign	Het
Prb1c	T	G	6: 132,338,840 (GRCm39)	Q126P	unknown	Het
Prl7d1	A	T	13: 27,893,230 (GRCm39)	V227D	probably damaging	Het
Prss54	T	C	8: 96,291,106 (GRCm39)	T165A	probably damaging	Het
Psrc1	A	G	3: 108,293,675 (GRCm39)	I195V	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Rnf213	A	T	11: 119,331,642 (GRCm39)	T2284S	probably benign	Het
Serpina3c	T	C	12: 104,114,637 (GRCm39)	E333G	probably damaging	Het
Serpinb6c	A	G	13: 34,077,800 (GRCm39)	F190S	probably damaging	Het
Sfmbt1	G	A	14: 30,495,986 (GRCm39)	D90N	probably damaging	Het
Tdh	T	C	14: 63,733,558 (GRCm39)	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,018,346 (GRCm39)	L1255*	probably null	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zbtb2	T	C	10: 4,318,508 (GRCm39)	K506R	probably damaging	Het
Zmiz1	T	C	14: 25,656,771 (GRCm39)	L800P	probably damaging	Het
Znhit6	A	G	3: 145,306,248 (GRCm39)	D251G	probably benign	Het

Other mutations in Trim41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Trim41	APN	11	48,703,190 (GRCm39)	missense	possibly damaging	0.94
IGL02959:Trim41	APN	11	48,698,307 (GRCm39)	missense	probably damaging	1.00
R0692:Trim41	UTSW	11	48,699,077 (GRCm39)	splice site	probably null
R1785:Trim41	UTSW	11	48,698,419 (GRCm39)	missense	probably damaging	1.00
R1931:Trim41	UTSW	11	48,698,319 (GRCm39)	missense	probably damaging	0.99
R2130:Trim41	UTSW	11	48,698,419 (GRCm39)	missense	probably damaging	1.00
R2132:Trim41	UTSW	11	48,698,419 (GRCm39)	missense	probably damaging	1.00
R2918:Trim41	UTSW	11	48,707,084 (GRCm39)	intron	probably benign
R3018:Trim41	UTSW	11	48,698,521 (GRCm39)	missense	probably benign	0.00
R3024:Trim41	UTSW	11	48,698,985 (GRCm39)	missense	possibly damaging	0.48
R3770:Trim41	UTSW	11	48,699,911 (GRCm39)	missense	possibly damaging	0.75
R5615:Trim41	UTSW	11	48,698,192 (GRCm39)	unclassified	probably benign
R5616:Trim41	UTSW	11	48,698,192 (GRCm39)	unclassified	probably benign
R6673:Trim41	UTSW	11	48,707,084 (GRCm39)	intron	probably benign
R9549:Trim41	UTSW	11	48,707,084 (GRCm39)	intron	probably benign
RF010:Trim41	UTSW	11	48,698,165 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATGTTGGCCAACTGCAG -3'
(R):5'- ACAACTTCTGCCGAGTGTGTG -3'

Sequencing Primer
(F):5'- AACTGCAGGTTGGGGCG -3'
(R):5'- ACTTCTGCCGAGTGTGTGTAACC -3'

Posted On

2016-07-22