Mutagenetix > Incidental Mutation

Incidental Mutation 'R7094:Trim15'

550390

Institutional Source

Beutler Lab

Gene Symbol

Trim15

Ensembl Gene

ENSMUSG00000050747

Gene Name

tripartite motif-containing 15

Synonyms

1810012B10Rik

MMRRC Submission

045187-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R7094 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37171583-37178102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37173788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 240 (Y240C)

Ref Sequence

ENSEMBL: ENSMUSP00000133953 (fasta)

Gene Model

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

AlphaFold

G3UY57

Predicted Effect

probably benign
Transcript: ENSMUST00000025329
AA Change: Y240C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025329
Gene: ENSMUSG00000050747
AA Change: Y240C

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: 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: ENSMUST00000174195
AA Change: Y240C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133953
Gene: ENSMUSG00000050747
AA Change: Y240C

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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,610 (GRCm39)	I2786F	probably damaging	Het
Actl6a	A	T	3: 32,760,487 (GRCm39)		probably benign	Het
Actn2	A	G	13: 12,324,543 (GRCm39)	V100A	probably damaging	Het
Arfgef3	G	T	10: 18,522,187 (GRCm39)	A613E	probably damaging	Het
Atf6b	G	A	17: 34,872,790 (GRCm39)		probably null	Het
Bub1	T	A	2: 127,663,681 (GRCm39)	E240V	probably null	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc141	C	A	2: 76,871,797 (GRCm39)	R829L	possibly damaging	Het
Ccdc85c	GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC	GCCGCCGCCGCCAGCGCC	12: 108,240,877 (GRCm39)		probably null	Het
Cd209g	T	C	8: 4,186,790 (GRCm39)	F112L	possibly damaging	Het
Cebpe	C	T	14: 54,948,060 (GRCm39)	R261H	probably damaging	Het
Cfap100	T	C	6: 90,390,436 (GRCm39)	E68G		Het
Chd9	A	G	8: 91,716,189 (GRCm39)	N921S	unknown	Het
Chil6	T	C	3: 106,311,486 (GRCm39)	N98S	probably damaging	Het
Clip1	T	C	5: 123,761,333 (GRCm39)	K734E	probably benign	Het
Cracd	C	T	5: 77,006,879 (GRCm39)	P1080L	unknown	Het
Cyp11b2	A	G	15: 74,725,507 (GRCm39)	F204S	possibly damaging	Het
Dnah5	A	G	15: 28,453,482 (GRCm39)	T4418A	probably damaging	Het
Dysf	T	C	6: 84,077,184 (GRCm39)	V649A	probably benign	Het
Ergic3	G	A	2: 155,858,683 (GRCm39)	V270M	possibly damaging	Het
Eva1a	C	T	6: 82,069,024 (GRCm39)	T117I	probably damaging	Het
Fat4	G	A	3: 38,944,023 (GRCm39)	G972D	probably damaging	Het
Gm14412	A	T	2: 177,009,138 (GRCm39)	N39K	probably damaging	Het
Gm5565	T	C	5: 146,095,084 (GRCm39)	T221A	probably benign	Het
Gnptab	T	G	10: 88,215,366 (GRCm39)	V29G	possibly damaging	Het
Grem2	T	C	1: 174,664,555 (GRCm39)	Y98C	probably damaging	Het
Grik2	A	T	10: 49,232,012 (GRCm39)	I506N	possibly damaging	Het
Has2	T	A	15: 56,545,017 (GRCm39)	Y195F	probably damaging	Het
Kics2	A	G	10: 121,576,098 (GRCm39)	Y73C	possibly damaging	Het
Lars2	T	C	9: 123,288,650 (GRCm39)	L832P	probably damaging	Het
Lipo5	T	A	19: 33,446,249 (GRCm39)	E49D	probably damaging	Het
Macc1	T	A	12: 119,414,126 (GRCm39)	Y767*	probably null	Het
Map2	G	T	1: 66,451,886 (GRCm39)	E259*	probably null	Het
Mcm9	T	C	10: 53,496,253 (GRCm39)	D310G	probably damaging	Het
Mink1	C	A	11: 70,500,901 (GRCm39)		probably null	Het
Mtrr	T	C	13: 68,727,803 (GRCm39)	T48A	possibly damaging	Het
Nrsn1	A	T	13: 25,437,724 (GRCm39)	I68N	possibly damaging	Het
Or1ab2	A	T	8: 72,863,347 (GRCm39)		probably benign	Het
Or4a71	A	T	2: 89,357,902 (GRCm39)	I284K	probably damaging	Het
Or51f23b	A	G	7: 102,402,305 (GRCm39)	M277T	probably benign	Het
Or5p60	G	T	7: 107,723,840 (GRCm39)	T210N	probably benign	Het
Or8k36-ps1	T	C	2: 86,437,672 (GRCm39)	N81S	unknown	Het
Pcdh17	A	G	14: 84,684,835 (GRCm39)	D434G	probably damaging	Het
Rnf213	T	A	11: 119,328,430 (GRCm39)		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sez6l2	A	G	7: 126,552,096 (GRCm39)	E121G	probably damaging	Het
Slc35e4	T	C	11: 3,863,118 (GRCm39)	S24G	probably benign	Het
Slc39a2	G	T	14: 52,131,146 (GRCm39)		probably benign	Het
Slitrk5	C	T	14: 111,918,268 (GRCm39)	P631S	probably benign	Het
Taf2	A	G	15: 54,923,482 (GRCm39)	V265A	probably benign	Het
Tas2r106	T	C	6: 131,655,542 (GRCm39)	N103S	probably benign	Het
Tgm1	T	C	14: 55,942,300 (GRCm39)	T684A	possibly damaging	Het
Tgm7	C	T	2: 120,929,489 (GRCm39)	G262S	probably damaging	Het
Tpp2	T	A	1: 44,008,148 (GRCm39)	S451T	probably damaging	Het
Trio	A	T	15: 27,891,534 (GRCm39)	C465S	unknown	Het
Ttc22	G	A	4: 106,493,104 (GRCm39)	W250*	probably null	Het
Upb1	C	A	10: 75,274,042 (GRCm39)	F356L	probably damaging	Het
Vmn2r99	T	A	17: 19,599,573 (GRCm39)	M419K	probably benign	Het
Vstm2a	G	A	11: 16,207,990 (GRCm39)		probably benign	Het
Zfp820	T	C	17: 22,038,246 (GRCm39)	T361A	probably benign	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
R6758:Trim15	UTSW	17	37,173,233 (GRCm39)	missense	probably benign	0.16
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'- CCAGGTATTGAAATTGAGGAAAGATG -3'
(R):5'- CCCTGTGTCTCCCAAGTATTAC -3'

Sequencing Primer
(F):5'- TATTGAAATTGAGGAAAGATGGAGAC -3'
(R):5'- TTCCCAGAAGACTGCAGTTG -3'

Posted On

2019-05-15