Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02662:Trim16'

302580

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim16

Ensembl Gene

ENSMUSG00000047821

Gene Name

tripartite motif-containing 16

Synonyms

9130006M08Rik, EBBP

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02662

Quality Score

Status

Chromosome

Chromosomal Location

62711034-62733774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62731383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 331 (L331Q)

Ref Sequence

ENSEMBL: ENSMUSP00000104343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055006] [ENSMUST00000072639] [ENSMUST00000108703]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055006
AA Change: L418Q

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055542
Gene: ENSMUSG00000047821
AA Change: L418Q

Domain	Start	End	E-Value	Type
Blast:BBOX	64	113	6e-24	BLAST
BBOX	117	157	3.24e-4	SMART
coiled coil region	171	196	N/A	INTRINSIC
coiled coil region	237	265	N/A	INTRINSIC
PRY	364	417	1.41e-22	SMART
SPRY	418	543	6.4e-27	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072639
AA Change: L418Q

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072432
Gene: ENSMUSG00000047821
AA Change: L418Q

Domain	Start	End	E-Value	Type
Blast:BBOX	64	113	5e-24	BLAST
BBOX	117	157	3.24e-4	SMART
coiled coil region	171	196	N/A	INTRINSIC
coiled coil region	237	265	N/A	INTRINSIC
PRY	364	417	1.41e-22	SMART
Pfam:SPRY	418	483	1.4e-6	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108703
AA Change: L331Q

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104343
Gene: ENSMUSG00000047821
AA Change: L331Q

Domain	Start	End	E-Value	Type
Blast:BBOX	1	26	9e-10	BLAST
BBOX	30	70	3.24e-4	SMART
coiled coil region	84	109	N/A	INTRINSIC
coiled coil region	150	178	N/A	INTRINSIC
PRY	277	330	1.41e-22	SMART
SPRY	331	456	6.4e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128623

Coding Region Coverage

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 tripartite motif (TRIM) family member that contains two B box domains and a coiled-coiled region that are characteristic of the B box zinc finger protein family. While it lacks a RING domain found in other TRIM proteins, the encoded protein can homodimerize or heterodimerize with other TRIM proteins and has E3 ubiquitin ligase activity. This gene is also a tumor suppressor and is involved in secretory autophagy. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	G	15: 64,618,744 (GRCm39)		probably null	Het
Ap5z1	G	A	5: 142,462,644 (GRCm39)		probably null	Het
Cdhr5	T	G	7: 140,854,416 (GRCm39)	I120L	possibly damaging	Het
Chd5	C	T	4: 152,456,588 (GRCm39)	S975F	probably damaging	Het
Cts3	G	T	13: 61,715,871 (GRCm39)	Q132K	probably damaging	Het
Cylc2	T	A	4: 51,216,698 (GRCm39)		probably benign	Het
Defb39	A	G	8: 19,102,891 (GRCm39)	V68A	probably benign	Het
Dgki	A	G	6: 36,839,421 (GRCm39)		probably benign	Het
Dhtkd1	G	A	2: 5,904,783 (GRCm39)	P867L	probably damaging	Het
Gata5	C	T	2: 179,969,544 (GRCm39)		probably benign	Het
Glt28d2	T	A	3: 85,779,423 (GRCm39)	I17F	probably damaging	Het
Gstm2	T	C	3: 107,892,378 (GRCm39)	Y82C	possibly damaging	Het
Hs6st1	T	A	1: 36,142,893 (GRCm39)	L276*	probably null	Het
Iqgap1	T	C	7: 80,392,827 (GRCm39)	D712G	probably benign	Het
Kdm4c	T	C	4: 74,323,058 (GRCm39)	S997P	probably damaging	Het
Ksr1	G	A	11: 78,927,551 (GRCm39)	T289I	probably damaging	Het
Lingo4	T	C	3: 94,309,124 (GRCm39)		probably benign	Het
Ncapd2	A	G	6: 125,153,694 (GRCm39)	S674P	probably damaging	Het
Nek1	G	A	8: 61,557,218 (GRCm39)	V841I	probably benign	Het
Or10a48	T	C	7: 108,424,952 (GRCm39)	T85A	probably benign	Het
Or8i2	T	C	2: 86,852,346 (GRCm39)	T181A	probably benign	Het
Pigx	A	G	16: 31,906,201 (GRCm39)	V40A	probably damaging	Het
Pla2g2d	T	G	4: 138,506,006 (GRCm39)	M5R	possibly damaging	Het
Ppa2	G	T	3: 133,073,644 (GRCm39)	R234I	probably damaging	Het
Rbms1	A	C	2: 60,592,650 (GRCm39)	L221R	probably damaging	Het
Rnasel	C	A	1: 153,629,857 (GRCm39)	N124K	probably damaging	Het
Serpinb9h	A	G	13: 33,588,513 (GRCm39)	N366S	possibly damaging	Het
Sigirr	T	A	7: 140,674,707 (GRCm39)		probably benign	Het
Tas2r136	A	T	6: 132,754,671 (GRCm39)	V152E	probably damaging	Het
Tlnrd1	C	T	7: 83,532,027 (GRCm39)	V135M	possibly damaging	Het
Tlnrd1	A	G	7: 83,531,744 (GRCm39)	L229S	probably damaging	Het
Top1mt	A	G	15: 75,540,554 (GRCm39)	V239A	probably damaging	Het
Tpd52	A	T	3: 9,009,775 (GRCm39)		probably null	Het
Ttll4	A	G	1: 74,726,390 (GRCm39)		probably null	Het
Vmn1r27	T	A	6: 58,192,272 (GRCm39)	D244V	probably damaging	Het
Vmn2r72	A	C	7: 85,387,391 (GRCm39)	D724E	probably benign	Het
Zfp563	T	C	17: 33,321,253 (GRCm39)	W18R	probably damaging	Het
Zswim8	T	C	14: 20,763,142 (GRCm39)	V347A	probably benign	Het

Other mutations in Trim16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Trim16	APN	11	62,728,058 (GRCm39)	splice site	probably benign
IGL01060:Trim16	APN	11	62,711,530 (GRCm39)	missense	probably benign	0.06
IGL01568:Trim16	APN	11	62,711,684 (GRCm39)	missense	probably benign	0.05
IGL01659:Trim16	APN	11	62,711,521 (GRCm39)	missense	probably benign	0.00
IGL02519:Trim16	APN	11	62,724,905 (GRCm39)	missense	possibly damaging	0.49
FR4589:Trim16	UTSW	11	62,711,521 (GRCm39)	intron	probably benign
FR4976:Trim16	UTSW	11	62,711,515 (GRCm39)	intron	probably benign
R0007:Trim16	UTSW	11	62,719,944 (GRCm39)	missense	probably benign	0.00
R0007:Trim16	UTSW	11	62,719,944 (GRCm39)	missense	probably benign	0.00
R0346:Trim16	UTSW	11	62,731,520 (GRCm39)	missense	probably benign	0.00
R0410:Trim16	UTSW	11	62,711,297 (GRCm39)	start gained	probably benign
R1725:Trim16	UTSW	11	62,711,331 (GRCm39)	start codon destroyed	possibly damaging	0.91
R3845:Trim16	UTSW	11	62,727,498 (GRCm39)	splice site	probably benign
R3879:Trim16	UTSW	11	62,731,433 (GRCm39)	missense	probably damaging	1.00
R5023:Trim16	UTSW	11	62,727,638 (GRCm39)	missense	probably benign	0.36
R5344:Trim16	UTSW	11	62,711,751 (GRCm39)	missense	probably damaging	1.00
R6919:Trim16	UTSW	11	62,731,695 (GRCm39)	missense	possibly damaging	0.86
R7490:Trim16	UTSW	11	62,724,949 (GRCm39)	missense	probably damaging	1.00
R7525:Trim16	UTSW	11	62,711,580 (GRCm39)	missense	probably damaging	1.00
R8354:Trim16	UTSW	11	62,727,587 (GRCm39)	missense	probably benign	0.01
R8439:Trim16	UTSW	11	62,741,414 (GRCm39)	missense	probably benign	0.10
R8754:Trim16	UTSW	11	62,731,763 (GRCm39)	missense	probably benign	0.01
R9581:Trim16	UTSW	11	62,727,557 (GRCm39)	missense	probably damaging	0.98
R9599:Trim16	UTSW	11	62,731,644 (GRCm39)	missense	probably damaging	0.97
R9789:Trim16	UTSW	11	62,720,026 (GRCm39)	critical splice donor site	probably null
X0026:Trim16	UTSW	11	62,719,963 (GRCm39)	missense	probably benign	0.02
Z1186:Trim16	UTSW	11	62,711,428 (GRCm39)	missense	probably benign
Z1186:Trim16	UTSW	11	62,731,675 (GRCm39)	missense	probably benign	0.00
Z1186:Trim16	UTSW	11	62,731,572 (GRCm39)	missense	probably benign
Z1186:Trim16	UTSW	11	62,727,643 (GRCm39)	missense	probably benign	0.00
Z1186:Trim16	UTSW	11	62,711,518 (GRCm39)	intron	probably benign
Z1186:Trim16	UTSW	11	62,711,516 (GRCm39)	intron	probably benign
Z1186:Trim16	UTSW	11	62,711,502 (GRCm39)	missense	probably benign
Z1187:Trim16	UTSW	11	62,731,675 (GRCm39)	missense	probably benign	0.00
Z1187:Trim16	UTSW	11	62,731,572 (GRCm39)	missense	probably benign
Z1187:Trim16	UTSW	11	62,727,643 (GRCm39)	missense	probably benign	0.00
Z1187:Trim16	UTSW	11	62,711,521 (GRCm39)	intron	probably benign
Z1187:Trim16	UTSW	11	62,711,520 (GRCm39)	intron	probably benign
Z1187:Trim16	UTSW	11	62,711,516 (GRCm39)	intron	probably benign
Z1187:Trim16	UTSW	11	62,711,502 (GRCm39)	missense	probably benign
Z1187:Trim16	UTSW	11	62,711,428 (GRCm39)	missense	probably benign
Z1188:Trim16	UTSW	11	62,711,502 (GRCm39)	missense	probably benign
Z1188:Trim16	UTSW	11	62,711,516 (GRCm39)	intron	probably benign
Z1188:Trim16	UTSW	11	62,711,521 (GRCm39)	intron	probably benign
Z1188:Trim16	UTSW	11	62,727,643 (GRCm39)	missense	probably benign	0.00
Z1188:Trim16	UTSW	11	62,731,572 (GRCm39)	missense	probably benign
Z1188:Trim16	UTSW	11	62,731,675 (GRCm39)	missense	probably benign	0.00
Z1188:Trim16	UTSW	11	62,711,428 (GRCm39)	missense	probably benign
Z1189:Trim16	UTSW	11	62,731,675 (GRCm39)	missense	probably benign	0.00
Z1189:Trim16	UTSW	11	62,731,572 (GRCm39)	missense	probably benign
Z1189:Trim16	UTSW	11	62,727,643 (GRCm39)	missense	probably benign	0.00
Z1189:Trim16	UTSW	11	62,711,520 (GRCm39)	intron	probably benign
Z1189:Trim16	UTSW	11	62,711,517 (GRCm39)	intron	probably benign
Z1189:Trim16	UTSW	11	62,711,516 (GRCm39)	intron	probably benign
Z1189:Trim16	UTSW	11	62,711,502 (GRCm39)	missense	probably benign
Z1189:Trim16	UTSW	11	62,711,428 (GRCm39)	missense	probably benign
Z1190:Trim16	UTSW	11	62,731,675 (GRCm39)	missense	probably benign	0.00
Z1190:Trim16	UTSW	11	62,731,572 (GRCm39)	missense	probably benign
Z1190:Trim16	UTSW	11	62,727,643 (GRCm39)	missense	probably benign	0.00
Z1190:Trim16	UTSW	11	62,711,521 (GRCm39)	intron	probably benign
Z1190:Trim16	UTSW	11	62,711,519 (GRCm39)	intron	probably benign
Z1190:Trim16	UTSW	11	62,711,516 (GRCm39)	intron	probably benign
Z1190:Trim16	UTSW	11	62,711,502 (GRCm39)	missense	probably benign
Z1190:Trim16	UTSW	11	62,711,428 (GRCm39)	missense	probably benign
Z1191:Trim16	UTSW	11	62,711,502 (GRCm39)	missense	probably benign
Z1191:Trim16	UTSW	11	62,711,428 (GRCm39)	missense	probably benign
Z1191:Trim16	UTSW	11	62,731,675 (GRCm39)	missense	probably benign	0.00
Z1191:Trim16	UTSW	11	62,731,572 (GRCm39)	missense	probably benign
Z1191:Trim16	UTSW	11	62,727,643 (GRCm39)	missense	probably benign	0.00
Z1191:Trim16	UTSW	11	62,711,516 (GRCm39)	intron	probably benign
Z1192:Trim16	UTSW	11	62,711,428 (GRCm39)	missense	probably benign
Z1192:Trim16	UTSW	11	62,731,675 (GRCm39)	missense	probably benign	0.00
Z1192:Trim16	UTSW	11	62,731,572 (GRCm39)	missense	probably benign
Z1192:Trim16	UTSW	11	62,727,643 (GRCm39)	missense	probably benign	0.00
Z1192:Trim16	UTSW	11	62,711,521 (GRCm39)	intron	probably benign
Z1192:Trim16	UTSW	11	62,711,516 (GRCm39)	intron	probably benign
Z1192:Trim16	UTSW	11	62,711,502 (GRCm39)	missense	probably benign

Posted On

2015-04-16