Mutagenetix > Incidental Mutation

Incidental Mutation 'R3024:Trim41'

265778

Institutional Source

Beutler Lab

Gene Symbol

Trim41

Ensembl Gene

ENSMUSG00000040365

Gene Name

tripartite motif-containing 41

Synonyms

RINCK

MMRRC Submission

040540-MU

Accession Numbers

Essential gene?

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

Stock #

R3024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48697231-48708180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48698985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 420 (K420E)

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

possibly damaging
Transcript: ENSMUST00000047145
AA Change: K420E

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037055
Gene: ENSMUSG00000040365
AA Change: K420E

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: ENSMUST00000142269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139959

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef37	T	C	18: 61,634,959 (GRCm39)	E461G	probably damaging	Het
Bfsp1	A	T	2: 143,687,879 (GRCm39)	V182D	probably benign	Het
Birc6	T	C	17: 74,915,214 (GRCm39)	S1635P	possibly damaging	Het
Chil6	T	C	3: 106,296,086 (GRCm39)	D383G	probably damaging	Het
Itpr2	G	A	6: 146,081,808 (GRCm39)	A175V	probably benign	Het
Kcnh7	G	T	2: 62,595,007 (GRCm39)	R688S	probably damaging	Het
Krt6a	A	T	15: 101,599,724 (GRCm39)	C463S	probably benign	Het
Ksr2	T	A	5: 117,693,125 (GRCm39)	I191N	possibly damaging	Het
Lyst	T	C	13: 13,833,272 (GRCm39)	V1698A	probably benign	Het
Or12d13	A	T	17: 37,647,918 (GRCm39)	D68E	probably damaging	Het
Or4c127	A	T	2: 89,833,584 (GRCm39)	N278I	probably damaging	Het
Pappa2	C	T	1: 158,763,795 (GRCm39)	R572Q	probably benign	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Phf20	A	G	2: 156,129,787 (GRCm39)	H453R	probably damaging	Het
Prex1	G	T	2: 166,430,956 (GRCm39)	H615Q	probably benign	Het
Slc25a54	T	A	3: 108,987,982 (GRCm39)	I41N	probably damaging	Het
Slc35f5	A	G	1: 125,496,335 (GRCm39)	S157G	probably benign	Het
Sstr3	G	A	15: 78,424,187 (GRCm39)	R187W	probably damaging	Het
Tsnaxip1	A	G	8: 106,568,375 (GRCm39)	Y353C	probably damaging	Het
Vmn1r238	T	C	18: 3,123,305 (GRCm39)	I36M	probably benign	Het
Xylt1	T	A	7: 117,147,883 (GRCm39)	V149D	probably damaging	Het
Zfpm2	G	A	15: 40,966,355 (GRCm39)	E815K	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
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'- CACCCTAATTCTAACACCTGCTGG -3'
(R):5'- TCCCCAGAACCTAAGTTTCTGC -3'

Sequencing Primer
(F):5'- AACACCTGCTGGCCTGTC -3'
(R):5'- AGAACCTAAGTTTCTGCTTCTCAG -3'

Posted On

2015-02-05