Mutagenetix > Incidental Mutation

Incidental Mutation 'R6758:Trim15'

531121

Institutional Source

Beutler Lab

Gene Symbol

Trim15

Ensembl Gene

ENSMUSG00000050747

Gene Name

tripartite motif-containing 15

Synonyms

1810012B10Rik

MMRRC Submission

044874-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R6758 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37171583-37178102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37173233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 284 (L284P)

Ref Sequence

ENSEMBL: ENSMUSP00000133953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025329] [ENSMUST00000053434] [ENSMUST00000123715] [ENSMUST00000124136] [ENSMUST00000130367] [ENSMUST00000144182] [ENSMUST00000174195] [ENSMUST00000179968]

AlphaFold

G3UY57

Predicted Effect

probably benign
Transcript: ENSMUST00000025329
AA Change: L284P

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025329
Gene: ENSMUSG00000050747
AA Change: L284P

Domain	Start	End	E-Value	Type
RING	15	53	2e-4	SMART
BBOX	73	114	2.41e-12	SMART
coiled coil region	145	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000053434

SMART Domains

Protein: ENSMUSP00000060103
Gene: ENSMUSG00000024457

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC
PRY	318	370	6.18e-19	SMART
SPRY	371	545	3.03e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123715

SMART Domains

Protein: ENSMUSP00000118438
Gene: ENSMUSG00000024457

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124136

SMART Domains

Protein: ENSMUSP00000120764
Gene: ENSMUSG00000024457

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
PRY	121	173	6.18e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130367

SMART Domains

Protein: ENSMUSP00000114896
Gene: ENSMUSG00000024457

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC
PRY	318	370	6.18e-19	SMART
SPRY	371	545	3.03e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144182

SMART Domains

Protein: ENSMUSP00000114565
Gene: ENSMUSG00000024457

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC
PRY	318	370	6.18e-19	SMART
low complexity region	379	394	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156872

Predicted Effect

probably benign
Transcript: ENSMUST00000174195
AA Change: L284P

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133953
Gene: ENSMUSG00000050747
AA Change: L284P

Domain	Start	End	E-Value	Type
RING	15	53	2e-4	SMART
BBOX	73	114	2.41e-12	SMART
coiled coil region	145	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173639

SMART Domains

Protein: ENSMUSP00000133638
Gene: ENSMUSG00000050747

Domain	Start	End	E-Value	Type
SCOP:d1dkza_	15	105	1e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179968

SMART Domains

Protein: ENSMUSP00000136651
Gene: ENSMUSG00000024457

Domain	Start	End	E-Value	Type
RING	16	56	2.27e-8	SMART
BBOX	97	138	4.33e-14	SMART
low complexity region	206	219	N/A	INTRINSIC
PRY	318	370	6.18e-19	SMART
SPRY	371	545	3.03e-28	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	T	5: 90,411,172 (GRCm39)	D1374E	probably damaging	Het
Cd96	C	A	16: 45,938,367 (GRCm39)	V33L	possibly damaging	Het
Drd1	T	C	13: 54,207,308 (GRCm39)	E295G	probably benign	Het
Fzd8	T	A	18: 9,213,238 (GRCm39)	C107S	possibly damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gm11595	C	A	11: 99,663,366 (GRCm39)	V105L	unknown	Het
Gm11595	A	T	11: 99,663,367 (GRCm39)	C104*	probably null	Het
Igsf3	T	C	3: 101,332,814 (GRCm39)	Y31H	probably damaging	Het
Ikzf2	A	T	1: 69,578,059 (GRCm39)	H483Q	probably damaging	Het
Itgbl1	A	G	14: 124,094,901 (GRCm39)	K309E	probably benign	Het
Myt1l	T	G	12: 29,892,599 (GRCm39)	Y79D	possibly damaging	Het
Nid2	T	A	14: 19,852,551 (GRCm39)	S1086R	probably damaging	Het
Or1o1	A	G	17: 37,716,586 (GRCm39)	D49G	probably damaging	Het
Or5h24	T	C	16: 58,919,328 (GRCm39)	E9G	probably damaging	Het
Or6c65	T	C	10: 129,603,920 (GRCm39)	I185T	probably damaging	Het
Rorc	A	G	3: 94,294,825 (GRCm39)	N51S	possibly damaging	Het
Sanbr	T	C	11: 23,538,475 (GRCm39)		probably null	Het
Simc1	C	T	13: 54,673,361 (GRCm39)	P570S	possibly damaging	Het
Smn1	T	A	13: 100,268,946 (GRCm39)	M264K	possibly damaging	Het
Tiam2	A	G	17: 3,568,678 (GRCm39)	D1608G	probably benign	Het
Tll1	C	A	8: 64,494,439 (GRCm39)		probably null	Het

Other mutations in Trim15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Trim15	APN	17	37,175,975 (GRCm39)	missense	probably damaging	0.97
IGL02135:Trim15	APN	17	37,177,956 (GRCm39)	missense	probably benign	0.00
IGL03024:Trim15	APN	17	37,177,785 (GRCm39)	missense	probably damaging	1.00
R0310:Trim15	UTSW	17	37,177,878 (GRCm39)	missense	probably damaging	1.00
R0490:Trim15	UTSW	17	37,177,247 (GRCm39)	missense	probably benign
R0992:Trim15	UTSW	17	37,175,903 (GRCm39)	missense	probably damaging	0.98
R1775:Trim15	UTSW	17	37,176,061 (GRCm39)	missense	probably benign	0.15
R1957:Trim15	UTSW	17	37,173,215 (GRCm39)	unclassified	probably benign
R3625:Trim15	UTSW	17	37,177,768 (GRCm39)	missense	possibly damaging	0.74
R4520:Trim15	UTSW	17	37,177,242 (GRCm39)	missense	probably benign	0.01
R4845:Trim15	UTSW	17	37,177,875 (GRCm39)	missense	probably benign	0.00
R5644:Trim15	UTSW	17	37,177,713 (GRCm39)	missense	probably damaging	0.99
R5838:Trim15	UTSW	17	37,173,732 (GRCm39)	missense	probably damaging	1.00
R5930:Trim15	UTSW	17	37,173,252 (GRCm39)	critical splice acceptor site	probably null
R7094:Trim15	UTSW	17	37,173,788 (GRCm39)	missense	probably benign
R7849:Trim15	UTSW	17	37,177,764 (GRCm39)	missense	probably benign	0.31
R9360:Trim15	UTSW	17	37,177,942 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGATGAGTGTCTACATGTAACTG -3'
(R):5'- ATTGTGGTCTCCCCTGTCCAAG -3'

Sequencing Primer
(F):5'- CGGAGGTCCTTGCATGCATTC -3'
(R):5'- TGTCCAAGGATAGAGGCCCTG -3'

Posted On

2018-08-01