Mutagenetix > Incidental Mutations

Incidental Mutation 'R7563:Trim39'

585283

Institutional Source

Beutler Lab

Gene Symbol

Trim39

Ensembl Gene

ENSMUSG00000045409

Gene Name

tripartite motif-containing 39

Synonyms

Rnf23, RING-B box-coiled-coil-B30.2, RBCC-B30.2, tfp, 1100001D15Rik, E130103K13Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7563 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36258873-36272247 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36260915 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 317 (V317E)

Ref Sequence

ENSEMBL: ENSMUSP00000133298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025319] [ENSMUST00000042717] [ENSMUST00000077535] [ENSMUST00000113706] [ENSMUST00000172573] [ENSMUST00000173369] [ENSMUST00000173665]

Predicted Effect

probably benign
Transcript: ENSMUST00000025319

SMART Domains

Protein: ENSMUSP00000025319
Gene: ENSMUSG00000024446

Domain	Start	End	E-Value	Type
Pfam:Rpr2	13	96	1.2e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000042717
AA Change: V309E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039790
Gene: ENSMUSG00000045409
AA Change: V309E

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
RING	29	69	1.9e-10	SMART
BBOX	102	143	3.21e-8	SMART
coiled coil region	184	240	N/A	INTRINSIC
PRY	306	359	2.3e-27	SMART
SPRY	360	485	1.95e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077535

SMART Domains

Protein: ENSMUSP00000076739
Gene: ENSMUSG00000024446

Domain	Start	End	E-Value	Type
low complexity region	28	42	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113706
AA Change: V309E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109336
Gene: ENSMUSG00000045409
AA Change: V309E

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
RING	29	69	1.9e-10	SMART
BBOX	102	143	3.21e-8	SMART
coiled coil region	184	240	N/A	INTRINSIC
PRY	306	359	2.3e-27	SMART
SPRY	360	485	1.95e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172573

SMART Domains

Protein: ENSMUSP00000133400
Gene: ENSMUSG00000024446

Domain	Start	End	E-Value	Type
Pfam:Rpr2	1	48	4.4e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173369
AA Change: V317E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133298
Gene: ENSMUSG00000045409
AA Change: V317E

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
RING	29	69	1.9e-10	SMART
BBOX	102	143	3.21e-8	SMART
coiled coil region	184	240	N/A	INTRINSIC
PRY	314	367	1.23e-27	SMART
SPRY	368	493	1.95e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173665

SMART Domains

Protein: ENSMUSP00000133529
Gene: ENSMUSG00000045409

Domain	Start	End	E-Value	Type
BBOX	1	40	5.81e-6	SMART

Meta Mutation Damage Score

0.9149

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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 function of this protein has not been identified. This gene lies within the major histocompatibility complex class I region on chromosome 6. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	T	17: 23,717,328	F8L	probably benign	Het
Aadacl3	A	G	4: 144,457,894	I98T	probably damaging	Het
Ahnak	T	C	19: 9,011,165	I3271T	probably damaging	Het
Aox1	G	A	1: 58,047,145	V70I	probably benign	Het
Ap1g2	A	G	14: 55,099,749	S710P	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857		probably null	Het
Cacna1e	T	C	1: 154,471,416	K1064E	probably benign	Het
Capn11	T	A	17: 45,633,965	I459F	probably damaging	Het
Ccnc	A	G	4: 21,732,220	I48V	probably damaging	Het
Ces1d	T	A	8: 93,178,039	I358F	probably benign	Het
Clgn	A	T	8: 83,420,556	N379I	probably damaging	Het
Cym	T	C	3: 107,214,232	Y248C	probably damaging	Het
Epha8	T	C	4: 136,938,789	D352G	possibly damaging	Het
Eya2	T	C	2: 165,716,130		probably null	Het
Fam219a	A	C	4: 41,569,208	V10G	probably benign	Het
Fbxl5	C	T	5: 43,821,549	V20I	probably benign	Het
Fscb	T	C	12: 64,473,285	E469G	possibly damaging	Het
Glt8d2	A	T	10: 82,660,825		probably null	Het
Gm13088	A	T	4: 143,654,105	Y449*	probably null	Het
Helt	T	C	8: 46,293,593		probably benign	Het
Igkv8-27	G	T	6: 70,171,903	T89K	probably benign	Het
Ipo5	T	A	14: 120,946,155	H1048Q	probably benign	Het
Kalrn	T	C	16: 34,392,094	D28G	probably damaging	Het
Kcnh4	G	A	11: 100,741,854	P936S	probably benign	Het
Klrd1	A	G	6: 129,593,738	I37M	possibly damaging	Het
Kmt2e	T	C	5: 23,500,273	V1267A	probably damaging	Het
Lrrc29	A	G	8: 105,315,756	C147R	probably benign	Het
March1	A	T	8: 66,468,313	Q214L	probably damaging	Het
Mlip	G	T	9: 77,112,997	H52N	probably damaging	Het
Oas1e	T	C	5: 120,788,956	R229G	probably benign	Het
Ogfr	T	A	2: 180,592,507		probably null	Het
Olfr1023	T	A	2: 85,887,138	Y113N	probably damaging	Het
Olfr1279	T	C	2: 111,306,789	F195L	probably benign	Het
Pde4d	T	C	13: 109,951,007	I636T	probably benign	Het
Pex5l	C	T	3: 32,954,476	V426I	probably damaging	Het
Pmfbp1	A	G	8: 109,525,374	K384E	possibly damaging	Het
Prl6a1	T	G	13: 27,314,238		probably null	Het
Prss23	A	T	7: 89,509,830	W344R	probably damaging	Het
Ptar1	T	A	19: 23,720,316	D397E	probably benign	Het
Qrsl1	G	A	10: 43,876,517	R437C	probably damaging	Het
Rab6a	G	T	7: 100,608,197		probably benign	Het
Samd14	C	A	11: 95,021,413	S205R	probably benign	Het
Sel1l3	T	C	5: 53,185,984	Y322C	probably damaging	Het
Slc30a5	A	T	13: 100,803,972	L669I	probably benign	Het
Ssc4d	A	G	5: 135,963,033	L419P	probably damaging	Het
Tbc1d2b	A	T	9: 90,219,010	Y642*	probably null	Het
Tbc1d2b	A	C	9: 90,226,248	F417V	probably benign	Het
Top2a	T	C	11: 99,016,179	D212G	probably damaging	Het
Uncx	G	A	5: 139,544,506	R113H	probably damaging	Het
Usp4	A	G	9: 108,379,344	S655G	probably benign	Het
Vmn2r114	C	T	17: 23,291,026	V827I	probably benign	Het
Vmn2r28	T	A	7: 5,488,201	N349I	probably benign	Het
Vmn2r3	A	G	3: 64,275,349	W310R	possibly damaging	Het
Xirp2	T	C	2: 67,509,901	W829R	probably damaging	Het
Zfp574	C	A	7: 25,081,352	H600N	possibly damaging	Het

Other mutations in Trim39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Trim39	APN	17	36263963	splice site	probably benign
IGL01462:Trim39	APN	17	36263725	splice site	probably benign
IGL02243:Trim39	APN	17	36260384	missense	probably damaging	1.00
IGL03390:Trim39	APN	17	36260571	missense	probably damaging	0.99
barba	UTSW	17	36268854	missense	probably damaging	1.00
rossa	UTSW	17	36260915	missense	probably damaging	1.00
PIT4305001:Trim39	UTSW	17	36268970	missense	possibly damaging	0.93
R0458:Trim39	UTSW	17	36261512	missense	probably damaging	1.00
R0569:Trim39	UTSW	17	36263731	missense	probably benign	0.36
R1565:Trim39	UTSW	17	36268854	missense	probably damaging	1.00
R1769:Trim39	UTSW	17	36263940	missense	probably damaging	1.00
R1969:Trim39	UTSW	17	36268753	missense	probably benign	0.01
R2009:Trim39	UTSW	17	36263754	missense	possibly damaging	0.92
R2568:Trim39	UTSW	17	36269164	unclassified	probably benign
R5206:Trim39	UTSW	17	36260490	missense	probably damaging	1.00
R5443:Trim39	UTSW	17	36260753	missense	probably damaging	1.00
R6481:Trim39	UTSW	17	36268662	missense	probably benign	0.03
R7132:Trim39	UTSW	17	36260655	missense	probably benign	0.25
R7739:Trim39	UTSW	17	36260504	missense	possibly damaging	0.50
R8433:Trim39	UTSW	17	36260705	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CATACTCCTACTGCCCAGTG -3'
(R):5'- GATATGGATCCTTCTCTCTGGC -3'

Sequencing Primer
(F):5'- CTACTGCCCAGTGGGTCTTG -3'
(R):5'- TCTGGCCCTCACTCAGACAG -3'

Posted On

2019-10-17