Mutagenetix > Incidental Mutations

Incidental Mutation 'R0346:Trim36'

34308

Institutional Source

Beutler Lab

Gene Symbol

Trim36

Ensembl Gene

ENSMUSG00000033949

Gene Name

tripartite motif-containing 36

Synonyms

Haprin, D18Wsu100e

MMRRC Submission

038553-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46165302-46212607 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 46199709 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037011] [ENSMUST00000167364]

Predicted Effect

probably benign
Transcript: ENSMUST00000037011

SMART Domains

Protein: ENSMUSP00000037978
Gene: ENSMUSG00000033949

Domain	Start	End	E-Value	Type
RING	33	118	1.25e-5	SMART
BBOX	207	249	1.82e-7	SMART
Blast:BBC	256	381	5e-11	BLAST
FN3	418	498	1.32e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167364

SMART Domains

Protein: ENSMUSP00000129771
Gene: ENSMUSG00000033949

Domain	Start	End	E-Value	Type
RING	21	106	1.25e-5	SMART
BBOX	195	237	1.82e-7	SMART
Blast:BBC	244	369	4e-11	BLAST
FN3	406	486	1.32e-1	SMART
Pfam:SPRY	560	704	1.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195587

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (79/79)

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. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,566,278	I4406L	probably damaging	Het
Abca16	T	A	7: 120,435,932	C314S	probably damaging	Het
Add3	C	T	19: 53,216,956	R46*	probably null	Het
Alas1	A	T	9: 106,243,351	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,538,741	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,445,971	R365*	probably null	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
AU021092	T	C	16: 5,216,854	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Caln1	C	A	5: 130,822,921	H184N	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,938,952	V372A	probably damaging	Het
Ccng2	T	G	5: 93,270,894	I126S	probably damaging	Het
Cep85	A	T	4: 134,132,422	N643K	probably damaging	Het
Clvs2	G	C	10: 33,622,546	S129R	possibly damaging	Het
Cntn1	G	T	15: 92,232,087		probably benign	Het
Cttn	A	T	7: 144,452,539		probably benign	Het
Dedd2	T	C	7: 25,211,269	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,503,925	D263G	probably damaging	Het
Dppa4	T	A	16: 48,289,324		probably benign	Het
Ear2	A	G	14: 44,102,906	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,188,108		probably benign	Het
Etl4	G	T	2: 20,759,652		probably null	Het
Fbxo15	T	A	18: 84,960,221		probably null	Het
Gm8765	T	C	13: 50,703,310	Y995H	probably benign	Het
Gm9970	A	G	5: 31,240,838		probably benign	Het
Hap1	A	G	11: 100,356,029	S17P	probably benign	Het
Hgd	C	T	16: 37,588,774		probably benign	Het
Inpp5f	T	A	7: 128,690,668	L16Q	probably damaging	Het
Islr2	G	A	9: 58,198,343	R545*	probably null	Het
Itgav	G	T	2: 83,792,609	C675F	probably damaging	Het
Kif13a	T	A	13: 46,814,219	I403L	possibly damaging	Het
Kif14	T	A	1: 136,468,160	I68N	probably damaging	Het
Kif26a	G	T	12: 112,179,348	K1764N	probably null	Het
Lrrd1	C	A	5: 3,850,215	F173L	probably benign	Het
Mroh4	G	C	15: 74,614,292		probably benign	Het
Mrvi1	T	C	7: 110,898,976	D404G	probably damaging	Het
Msh5	A	G	17: 35,029,888	V723A	probably benign	Het
Mybph	T	G	1: 134,197,754	I279S	probably damaging	Het
Myh4	A	T	11: 67,260,326	I1936L	probably benign	Het
Myo1h	A	T	5: 114,355,209	T704S	probably benign	Het
Nav2	C	A	7: 49,604,585	T2377K	probably benign	Het
Nipbl	T	G	15: 8,360,956	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 20,024,515	L559P	probably damaging	Het
Nup210l	T	A	3: 90,189,438	V1318E	probably damaging	Het
Olfr1427	A	T	19: 12,099,439	S67T	probably damaging	Het
Olfr18	A	G	9: 20,314,411	S170P	probably benign	Het
Olfr385	A	G	11: 73,589,457	Y94H	probably damaging	Het
Olfr765	C	A	10: 129,046,473	V197F	possibly damaging	Het
P2ry13	T	C	3: 59,209,566	T264A	possibly damaging	Het
Plekhg5	T	C	4: 152,114,253	L966P	probably benign	Het
Prss35	A	G	9: 86,755,351	K58R	probably benign	Het
Ptafr	T	A	4: 132,580,079	L260*	probably null	Het
Pum1	A	T	4: 130,779,805	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf145	A	G	11: 44,555,164	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,208,491	K218N	possibly damaging	Het
Rps6	T	C	4: 86,855,981	T128A	probably benign	Het
Ryr1	G	T	7: 29,067,588		probably benign	Het
Scel	A	T	14: 103,529,984	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,858,673	D57E	probably benign	Het
Slc35d1	A	C	4: 103,190,847	L240R	probably damaging	Het
Smcr8	A	G	11: 60,779,750	I575V	probably benign	Het
Syk	G	A	13: 52,640,659	M476I	probably damaging	Het
Tbcel	A	T	9: 42,437,243		probably benign	Het
Tob2	C	A	15: 81,858,223	G65W	probably damaging	Het
Trim16	A	G	11: 62,840,694	N464D	probably benign	Het
Trpv4	C	A	5: 114,630,529		probably benign	Het
Tsga10	T	A	1: 37,840,519	T64S	possibly damaging	Het
Ttc26	T	C	6: 38,409,435	C364R	probably damaging	Het
Vars2	A	T	17: 35,664,864		probably benign	Het
Vmn1r72	C	A	7: 11,669,694	V276L	probably benign	Het
Vps13a	T	A	19: 16,677,969	K1898N	probably benign	Het
Vps18	A	G	2: 119,297,164	M823V	probably damaging	Het
Washc2	T	C	6: 116,220,523		probably benign	Het
Zfp763	A	T	17: 33,019,747	H141Q	probably benign	Het

Other mutations in Trim36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Trim36	APN	18	46188388	splice site	probably benign
IGL02728:Trim36	APN	18	46172602	missense	probably benign	0.00
IGL03166:Trim36	APN	18	46212321	missense	probably benign
IGL03209:Trim36	APN	18	46167508	missense	probably benign
R0426:Trim36	UTSW	18	46172525	missense	probably damaging	0.97
R0463:Trim36	UTSW	18	46178456	missense	possibly damaging	0.89
R0590:Trim36	UTSW	18	46172576	missense	probably benign	0.01
R0751:Trim36	UTSW	18	46196251	missense	probably damaging	1.00
R1037:Trim36	UTSW	18	46196318	splice site	probably benign
R1184:Trim36	UTSW	18	46196251	missense	probably damaging	1.00
R1522:Trim36	UTSW	18	46186183	nonsense	probably null
R1571:Trim36	UTSW	18	46172495	missense	probably benign	0.01
R1687:Trim36	UTSW	18	46188657	missense	possibly damaging	0.93
R2057:Trim36	UTSW	18	46196162	missense	probably benign	0.02
R2103:Trim36	UTSW	18	46196082	missense	probably benign
R2127:Trim36	UTSW	18	46212337	missense	probably benign	0.27
R3853:Trim36	UTSW	18	46172372	splice site	probably benign
R4209:Trim36	UTSW	18	46196124	missense	probably benign	0.44
R4787:Trim36	UTSW	18	46172532	missense	probably benign	0.10
R4810:Trim36	UTSW	18	46172469	missense	probably benign	0.07
R4953:Trim36	UTSW	18	46196178	missense	possibly damaging	0.90
R5107:Trim36	UTSW	18	46172638	missense	probably benign
R5320:Trim36	UTSW	18	46167498	missense	probably damaging	1.00
R5683:Trim36	UTSW	18	46169292	missense	probably damaging	1.00
R5823:Trim36	UTSW	18	46169340	missense	probably damaging	1.00
R6619:Trim36	UTSW	18	46188408	missense	probably damaging	0.96
R7349:Trim36	UTSW	18	46169428	missense	probably benign	0.29
R7814:Trim36	UTSW	18	46167624	missense	possibly damaging	0.64
R7853:Trim36	UTSW	18	46172491	missense	probably benign	0.14
R7936:Trim36	UTSW	18	46172491	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- CCTTGTGGTTCCGCATCTGAAGAG -3'
(R):5'- GCTATGCCATTAGACGCTGTAGTCC -3'

Sequencing Primer
(F):5'- CGCATCTGAAGAGCGTGG -3'
(R):5'- CCTGGTTGACAAAGAAGTTACC -3'

Posted On

2013-05-09