Mutagenetix > Incidental Mutation

Incidental Mutation 'R3879:Trim16'

308688

Institutional Source

Beutler Lab

Gene Symbol

Trim16

Ensembl Gene

ENSMUSG00000047821

Gene Name

tripartite motif-containing 16

Synonyms

9130006M08Rik, EBBP

MMRRC Submission

040793-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62711034-62733774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62731433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 348 (G348S)

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 damaging
Transcript: ENSMUST00000055006
AA Change: G435S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055542
Gene: ENSMUSG00000047821
AA Change: G435S

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: G435S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000072432
Gene: ENSMUSG00000047821
AA Change: G435S

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 damaging
Transcript: ENSMUST00000108703
AA Change: G348S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104343
Gene: ENSMUSG00000047821
AA Change: G348S

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

0.7516

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (38/40)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,970,561 (GRCm39)		probably benign	Het
Aass	G	A	6: 23,122,520 (GRCm39)	H68Y	probably damaging	Het
Abcc8	T	A	7: 45,754,051 (GRCm39)	K1588N	possibly damaging	Het
Calcoco1	T	C	15: 102,615,823 (GRCm39)	D601G	probably damaging	Het
Ccdc175	C	A	12: 72,182,792 (GRCm39)	R409I	probably damaging	Het
Ccnl1	A	G	3: 65,856,179 (GRCm39)	V242A	possibly damaging	Het
Clasp2	T	C	9: 113,719,029 (GRCm39)	F705L	probably damaging	Het
Cyp46a1	A	G	12: 108,324,389 (GRCm39)	T389A	probably benign	Het
Eps8	A	G	6: 137,504,360 (GRCm39)		probably benign	Het
Gm9894	T	C	13: 67,912,916 (GRCm39)		noncoding transcript	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Nup153	A	T	13: 46,837,436 (GRCm39)	V1262E	probably damaging	Het
Nup210l	A	G	3: 90,092,780 (GRCm39)	T1245A	probably damaging	Het
Or10ad1b	C	T	15: 98,125,085 (GRCm39)	C147Y	probably damaging	Het
Or5b121	A	G	19: 13,507,613 (GRCm39)	Y236C	probably damaging	Het
Pcif1	G	A	2: 164,727,878 (GRCm39)	G189D	probably benign	Het
Pdzd2	A	G	15: 12,375,594 (GRCm39)	S1514P	probably damaging	Het
Pigu	A	T	2: 155,141,063 (GRCm39)	F276I	probably damaging	Het
Pramex1	T	C	X: 134,514,194 (GRCm39)	H365R	probably benign	Het
Psmd9	C	T	5: 123,372,653 (GRCm39)		probably benign	Het
Rasgrp2	A	T	19: 6,463,920 (GRCm39)	Q539H	probably benign	Het
Rgs22	T	G	15: 36,107,051 (GRCm39)	I112L	possibly damaging	Het
Slc26a9	A	T	1: 131,696,969 (GRCm39)	T786S	probably benign	Het
Sned1	A	G	1: 93,192,752 (GRCm39)		probably benign	Het
St7l	G	A	3: 104,833,763 (GRCm39)	V475I	probably damaging	Het
Tnfrsf11a	C	T	1: 105,737,085 (GRCm39)	T64I	probably damaging	Het
Top3a	A	G	11: 60,634,765 (GRCm39)	V713A	possibly damaging	Het
Tshz3	C	T	7: 36,470,962 (GRCm39)	Q984*	probably null	Het
Ttn	A	G	2: 76,566,406 (GRCm39)		probably null	Het
Ubfd1	T	A	7: 121,667,999 (GRCm39)		probably benign	Het
Zfp37	A	T	4: 62,109,572 (GRCm39)	Y497*	probably null	Het
Zfp462	G	A	4: 55,060,095 (GRCm39)	C1207Y	probably damaging	Het
Zfp607b	A	G	7: 27,403,476 (GRCm39)	E644G	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTCAGATGCCTGTGACATCAC -3'
(R):5'- TCCTGGGAAGTTTACATAGATACCG -3'

Sequencing Primer
(F):5'- GTGACATCACGTTTGACCCAG -3'
(R):5'- TACATAGATACCGAGCCTTCTGAAG -3'

Posted On

2015-04-17