Mutagenetix > Incidental Mutation

Incidental Mutation 'R3018:Trim41'

257691

Institutional Source

Beutler Lab

Gene Symbol

Trim41

Ensembl Gene

ENSMUSG00000040365

Gene Name

tripartite motif-containing 41

Synonyms

RINCK

Accession Numbers

Essential gene?

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

Stock #

R3018 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48697231-48708180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 48698521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 482 (R482S)

Ref Sequence

ENSEMBL: ENSMUSP00000037055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020640] [ENSMUST00000047145] [ENSMUST00000131888] [ENSMUST00000140800]

AlphaFold

Q5NCC3

Predicted Effect

probably benign
Transcript: ENSMUST00000020640

SMART Domains

Protein: ENSMUSP00000020640
Gene: ENSMUSG00000020372

Domain	Start	End	E-Value	Type
WD40	4	44	5.55e-7	SMART
WD40	52	91	6.48e-8	SMART
WD40	94	133	2.95e-11	SMART
WD40	135	178	8.55e-8	SMART
WD40	181	220	2.42e-7	SMART
WD40	223	260	6.34e-2	SMART
WD40	271	311	2.4e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047145
AA Change: R482S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000037055
Gene: ENSMUSG00000040365
AA Change: R482S

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

noncoding transcript
Transcript: ENSMUST00000082846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125166

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

noncoding transcript
Transcript: ENSMUST00000136849

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

noncoding transcript
Transcript: ENSMUST00000139959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142269

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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	C	1: 127,676,853 (GRCm39)	V126A	probably benign	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Dnm3	T	A	1: 162,149,328 (GRCm39)	K206*	probably null	Het
Grxcr1	C	T	5: 68,267,860 (GRCm39)	S203F	probably damaging	Het
Matn3	A	T	12: 9,013,578 (GRCm39)	D420V	probably benign	Het
Mlf2	G	T	6: 124,909,467 (GRCm39)	M48I	probably benign	Het
Moxd2	T	A	6: 40,855,820 (GRCm39)	T590S	probably benign	Het
Myh2	A	G	11: 67,070,410 (GRCm39)	D451G	possibly damaging	Het
Neurod4	T	C	10: 130,106,824 (GRCm39)	E150G	probably damaging	Het
Nynrin	A	T	14: 56,100,867 (GRCm39)	E219V	probably benign	Het
Rad51ap1	T	C	6: 126,916,485 (GRCm39)		probably null	Het
Rpl38	T	A	11: 114,559,761 (GRCm39)	F11L	possibly damaging	Het
Serinc5	T	C	13: 92,825,189 (GRCm39)	M206T	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Tnk1	C	T	11: 69,745,737 (GRCm39)		probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Zfp292	G	A	4: 34,808,814 (GRCm39)	T1410I	probably damaging	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
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
R5295:Trim41	UTSW	11	48,707,084 (GRCm39)	intron	probably benign
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'- TGAGCTCTGTGCCTGGTATC -3'
(R):5'- TATGTCTCTTTCCAAGTGGACC -3'

Sequencing Primer
(F):5'- ACACTTCGCGCTGGAGTAG -3'
(R):5'- TTTCCAAGTGGACCTGACAC -3'

Posted On

2015-01-11