Mutagenetix > Incidental Mutation

Incidental Mutation 'R0007:Trim16'

8032

Institutional Source

Beutler Lab

Gene Symbol

Trim16

Ensembl Gene

ENSMUSG00000047821

Gene Name

tripartite motif-containing 16

Synonyms

9130006M08Rik, EBBP

MMRRC Submission

038302-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0007 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

62711034-62733774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62719944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 84 (M84V)

Ref Sequence

ENSEMBL: ENSMUSP00000104343 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000055006
AA Change: M171V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055542
Gene: ENSMUSG00000047821
AA Change: M171V

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

probably benign
Transcript: ENSMUST00000072639
AA Change: M171V

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

SMART Domains

Protein: ENSMUSP00000072432
Gene: ENSMUSG00000047821
AA Change: M171V

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

probably benign
Transcript: ENSMUST00000108703
AA Change: M84V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104343
Gene: ENSMUSG00000047821
AA Change: M84V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 75.9%
3x: 62.7%
10x: 33.8%
20x: 16.7%

Validation Efficiency

95% (54/57)

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,147,466 (GRCm39)		probably benign	Het
Cdh8	A	T	8: 99,957,088 (GRCm39)	L205*	probably null	Het
Cntnap2	A	C	6: 45,969,007 (GRCm39)	N250H	possibly damaging	Het
Col7a1	T	C	9: 108,790,471 (GRCm39)	V973A	unknown	Het
Denr	T	A	5: 124,062,877 (GRCm39)	Y127N	probably damaging	Het
Diaph3	C	A	14: 87,104,056 (GRCm39)	R776L	possibly damaging	Het
F2	T	C	2: 91,460,952 (GRCm39)	E260G	probably benign	Het
Il1rl1	C	T	1: 40,485,331 (GRCm39)	T261I	possibly damaging	Het
Lama3	T	A	18: 12,630,938 (GRCm39)		probably benign	Het
Map2k5	A	T	9: 63,201,006 (GRCm39)	I209N	probably damaging	Het
Myo1b	T	A	1: 51,815,413 (GRCm39)	R650S	probably damaging	Het
Nek10	T	A	14: 14,840,574 (GRCm38)	H153Q	probably benign	Het
Nlrp9a	T	C	7: 26,250,515 (GRCm39)		probably benign	Het
Pcnx4	T	A	12: 72,602,353 (GRCm39)	F281I	possibly damaging	Het
Pcsk5	C	A	19: 17,632,225 (GRCm39)	G314C	probably damaging	Het
Pkhd1l1	T	C	15: 44,437,794 (GRCm39)		probably benign	Het
Polr2b	T	C	5: 77,488,284 (GRCm39)	V828A	probably benign	Het
Slc44a4	G	A	17: 35,140,230 (GRCm39)	A60T	probably damaging	Het
Sparcl1	T	A	5: 104,234,946 (GRCm39)	Q523L	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trhr	T	C	15: 44,092,547 (GRCm39)		probably benign	Het
Trpm3	G	A	19: 22,964,893 (GRCm39)	A1453T	probably benign	Het
Zfp990	C	A	4: 145,264,008 (GRCm39)	H335Q	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
IGL02662:Trim16	APN	11	62,731,383 (GRCm39)	missense	possibly damaging	0.91
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
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

2012-11-20