Mutagenetix > Incidental Mutation

Incidental Mutation 'R0692:Trim41'

63379

Institutional Source

Beutler Lab

Gene Symbol

Trim41

Ensembl Gene

ENSMUSG00000040365

Gene Name

tripartite motif-containing 41

Synonyms

RINCK

MMRRC Submission

038877-MU

Accession Numbers

Essential gene?

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

Stock #

R0692 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

48697231-48708180 bp(-) (GRCm39)

Type of Mutation

splice site (847 bp from exon)

DNA Base Change (assembly)

C to T at 48699077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121705 (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 damaging
Transcript: ENSMUST00000047145
AA Change: C389Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037055
Gene: ENSMUSG00000040365
AA Change: C389Y

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: ENSMUST00000125166

Predicted Effect

probably null
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 null
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 null
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: 98.8%
10x: 97.6%
20x: 95.8%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	A	19: 53,205,383 (GRCm39)	D44E	probably damaging	Het
Bpifb5	T	C	2: 154,076,616 (GRCm39)	V421A	probably benign	Het
Clk4	C	T	11: 51,172,155 (GRCm39)	R273*	probably null	Het
Cmya5	A	T	13: 93,230,357 (GRCm39)	L1577*	probably null	Het
Col14a1	G	C	15: 55,205,134 (GRCm39)	G88A	unknown	Het
Helz2	A	G	2: 180,882,674 (GRCm39)	C40R	probably benign	Het
Kcng1	T	A	2: 168,104,683 (GRCm39)	I388F	probably damaging	Het
Krt35	T	C	11: 99,983,896 (GRCm39)	E368G	possibly damaging	Het
Krt81	T	C	15: 101,358,053 (GRCm39)	D400G	possibly damaging	Het
Mcm3ap	T	C	10: 76,319,003 (GRCm39)	C744R	probably damaging	Het
Or5m3b	A	G	2: 85,872,516 (GRCm39)	M286V	probably benign	Het
Pde6c	A	T	19: 38,168,698 (GRCm39)	Y788F	probably damaging	Het
Plxnc1	A	G	10: 94,673,362 (GRCm39)		probably null	Het
Rflnb	T	C	11: 75,918,279 (GRCm39)	D62G	probably benign	Het
Sema4f	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	6: 82,916,511 (GRCm39)		probably benign	Het
Slc12a1	T	A	2: 125,036,082 (GRCm39)	Y651*	probably null	Het
Srbd1	T	C	17: 86,443,888 (GRCm39)	T113A	probably benign	Het
Svopl	A	T	6: 37,994,131 (GRCm39)	L300Q	probably damaging	Het
Vmn1r23	C	A	6: 57,903,110 (GRCm39)	E223*	probably null	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
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
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'- AGCTTCCAGTAGTCTACACCATCCC -3'
(R):5'- TCTCTGCTGAAGAGAGCAGTGACC -3'

Sequencing Primer
(F):5'- GTAGTCTACACCATCCCAGTAAG -3'
(R):5'- CTGTTATTCCCAGGACATCAAGG -3'

Posted On

2013-07-30