Mutagenetix > Incidental Mutation

Incidental Mutation 'R1687:Trim36'

189461

Institutional Source

Beutler Lab

Gene Symbol

Trim36

Ensembl Gene

ENSMUSG00000033949

Gene Name

tripartite motif-containing 36

Synonyms

Haprin, D18Wsu100e

MMRRC Submission

039720-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46298367-46345674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46321724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 108 (H108N)

Ref Sequence

ENSEMBL: ENSMUSP00000129771 (fasta)

Gene Model

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

AlphaFold

Q80WG7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037011
AA Change: H120N

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037978
Gene: ENSMUSG00000033949
AA Change: H120N

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

possibly damaging
Transcript: ENSMUST00000167364
AA Change: H108N

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129771
Gene: ENSMUSG00000033949
AA Change: H108N

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

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 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,184,714 (GRCm39)	F931I	probably benign	Het
Alox15	T	A	11: 70,240,744 (GRCm39)	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,538 (GRCm39)	V268D	probably benign	Het
Armc9	A	G	1: 86,084,677 (GRCm39)	M1V	probably null	Het
Brca1	C	T	11: 101,380,666 (GRCm39)	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,627,585 (GRCm39)	V138A	probably benign	Het
Camsap1	A	G	2: 25,829,627 (GRCm39)	F699S	probably damaging	Het
Ccm2	A	G	11: 6,535,118 (GRCm39)	R67G	probably damaging	Het
Cdk16	G	A	X: 20,562,898 (GRCm39)		probably null	Het
Cep85	T	C	4: 133,875,324 (GRCm39)	H546R	probably benign	Het
Cfap54	T	C	10: 92,768,502 (GRCm39)	D207G	probably damaging	Het
Cldn9	G	T	17: 23,902,050 (GRCm39)	R192S	probably benign	Het
Crybb3	A	G	5: 113,227,633 (GRCm39)	S63P	probably damaging	Het
Cux1	A	G	5: 136,341,523 (GRCm39)	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407 (GRCm39)	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dnah3	A	T	7: 119,645,009 (GRCm39)		probably null	Het
Eif1ad2	A	G	12: 87,786,488 (GRCm39)	D133G	unknown	Het
Eml6	G	A	11: 29,783,187 (GRCm39)	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,594,300 (GRCm39)	V610A	probably benign	Het
Fam234a	T	C	17: 26,434,282 (GRCm39)	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,111,307 (GRCm39)	V154I	probably benign	Het
Frem2	A	T	3: 53,561,373 (GRCm39)	W1045R	probably benign	Het
Fubp1	A	G	3: 151,933,838 (GRCm39)		probably benign	Het
Gja3	T	A	14: 57,274,333 (GRCm39)	N13I	probably damaging	Het
Gpr20	C	A	15: 73,567,751 (GRCm39)	V213L	probably benign	Het
Grk5	T	C	19: 61,065,221 (GRCm39)	I295T	probably damaging	Het
Gucy1b1	A	G	3: 81,945,349 (GRCm39)	F430L	probably damaging	Het
Gzmk	T	A	13: 113,310,462 (GRCm39)	I119L	probably benign	Het
Hadh	T	C	3: 131,038,898 (GRCm39)	I153V	probably benign	Het
Hsfy2	T	C	1: 56,676,012 (GRCm39)	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,665,836 (GRCm39)	I560T	probably benign	Het
Igdcc4	T	C	9: 65,038,945 (GRCm39)	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,508,620 (GRCm39)	D216G	probably benign	Het
Klc2	G	A	19: 5,161,682 (GRCm39)	P303S	probably damaging	Het
Lama5	C	T	2: 179,835,859 (GRCm39)	V1192I	probably benign	Het
Mon2	A	G	10: 122,862,029 (GRCm39)	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,909,935 (GRCm39)	L96Q	probably damaging	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,350,929 (GRCm39)	I726T	probably damaging	Het
Ndnf	A	T	6: 65,680,407 (GRCm39)	T229S	probably benign	Het
Npas3	A	T	12: 54,095,658 (GRCm39)		probably null	Het
Nrap	C	T	19: 56,343,961 (GRCm39)	E729K	probably damaging	Het
Nsun2	T	A	13: 69,775,716 (GRCm39)	F387I	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 163,886,226 (GRCm39)	T452M	probably benign	Het
Pcdh10	T	C	3: 45,334,450 (GRCm39)	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,529,087 (GRCm39)	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,618,629 (GRCm39)		probably benign	Het
Pkp2	T	C	16: 16,086,573 (GRCm39)		probably null	Het
Ppard	A	G	17: 28,516,154 (GRCm39)	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,295,344 (GRCm39)	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,106,109 (GRCm39)	T287A	probably damaging	Het
Sema4b	T	C	7: 79,869,010 (GRCm39)	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,872,983 (GRCm39)	I640N	probably damaging	Het
Smurf2	C	A	11: 106,726,896 (GRCm39)		probably null	Het
Spag5	T	C	11: 78,195,755 (GRCm39)	V354A	probably benign	Het
Sptb	T	C	12: 76,650,473 (GRCm39)	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,686,887 (GRCm39)	L22F	probably benign	Het
Sugp2	T	C	8: 70,695,284 (GRCm39)	S86P	probably damaging	Het
Tnk1	T	C	11: 69,747,299 (GRCm39)	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,645,263 (GRCm39)	I541F	possibly damaging	Het
Ttn	T	C	2: 76,701,251 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,935,317 (GRCm39)	S89R	probably benign	Het
Vmn2r121	T	C	X: 123,042,488 (GRCm39)	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,590,026 (GRCm39)	Y630F	probably benign	Het
Washc2	T	A	6: 116,233,673 (GRCm39)	S900T	probably benign	Het
Wdr72	A	G	9: 74,117,481 (GRCm39)	N731S	probably benign	Het
Xrra1	T	A	7: 99,525,451 (GRCm39)	F123L	probably damaging	Het
Zfp648	A	G	1: 154,079,988 (GRCm39)	D49G	probably benign	Het

Other mutations in Trim36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Trim36	APN	18	46,321,455 (GRCm39)	splice site	probably benign
IGL02728:Trim36	APN	18	46,305,669 (GRCm39)	missense	probably benign	0.00
IGL03166:Trim36	APN	18	46,345,388 (GRCm39)	missense	probably benign
IGL03209:Trim36	APN	18	46,300,575 (GRCm39)	missense	probably benign
R0346:Trim36	UTSW	18	46,332,776 (GRCm39)	unclassified	probably benign
R0426:Trim36	UTSW	18	46,305,592 (GRCm39)	missense	probably damaging	0.97
R0463:Trim36	UTSW	18	46,311,523 (GRCm39)	missense	possibly damaging	0.89
R0590:Trim36	UTSW	18	46,305,643 (GRCm39)	missense	probably benign	0.01
R0751:Trim36	UTSW	18	46,329,318 (GRCm39)	missense	probably damaging	1.00
R1037:Trim36	UTSW	18	46,329,385 (GRCm39)	splice site	probably benign
R1184:Trim36	UTSW	18	46,329,318 (GRCm39)	missense	probably damaging	1.00
R1522:Trim36	UTSW	18	46,319,250 (GRCm39)	nonsense	probably null
R1571:Trim36	UTSW	18	46,305,562 (GRCm39)	missense	probably benign	0.01
R2057:Trim36	UTSW	18	46,329,229 (GRCm39)	missense	probably benign	0.02
R2103:Trim36	UTSW	18	46,329,149 (GRCm39)	missense	probably benign
R2127:Trim36	UTSW	18	46,345,404 (GRCm39)	missense	probably benign	0.27
R3853:Trim36	UTSW	18	46,305,439 (GRCm39)	splice site	probably benign
R4209:Trim36	UTSW	18	46,329,191 (GRCm39)	missense	probably benign	0.44
R4787:Trim36	UTSW	18	46,305,599 (GRCm39)	missense	probably benign	0.10
R4810:Trim36	UTSW	18	46,305,536 (GRCm39)	missense	probably benign	0.07
R4953:Trim36	UTSW	18	46,329,245 (GRCm39)	missense	possibly damaging	0.90
R5107:Trim36	UTSW	18	46,305,705 (GRCm39)	missense	probably benign
R5320:Trim36	UTSW	18	46,300,565 (GRCm39)	missense	probably damaging	1.00
R5683:Trim36	UTSW	18	46,302,359 (GRCm39)	missense	probably damaging	1.00
R5823:Trim36	UTSW	18	46,302,407 (GRCm39)	missense	probably damaging	1.00
R6619:Trim36	UTSW	18	46,321,475 (GRCm39)	missense	probably damaging	0.96
R7349:Trim36	UTSW	18	46,302,495 (GRCm39)	missense	probably benign	0.29
R7814:Trim36	UTSW	18	46,300,691 (GRCm39)	missense	possibly damaging	0.64
R7853:Trim36	UTSW	18	46,305,558 (GRCm39)	missense	probably benign	0.14
R8008:Trim36	UTSW	18	46,305,556 (GRCm39)	missense	probably benign	0.34
R8294:Trim36	UTSW	18	46,331,588 (GRCm39)	missense	probably benign	0.02
R8735:Trim36	UTSW	18	46,302,452 (GRCm39)	missense	probably benign	0.10
R8899:Trim36	UTSW	18	46,302,264 (GRCm39)	missense	possibly damaging	0.69
R9091:Trim36	UTSW	18	46,300,580 (GRCm39)	missense	possibly damaging	0.80
R9106:Trim36	UTSW	18	46,300,664 (GRCm39)	missense	possibly damaging	0.76
R9135:Trim36	UTSW	18	46,302,410 (GRCm39)	missense	probably benign	0.03
R9262:Trim36	UTSW	18	46,300,506 (GRCm39)	missense	probably benign	0.01
R9270:Trim36	UTSW	18	46,300,580 (GRCm39)	missense	possibly damaging	0.80
R9505:Trim36	UTSW	18	46,329,281 (GRCm39)	missense	probably damaging	1.00
R9587:Trim36	UTSW	18	46,308,722 (GRCm39)	missense	probably benign	0.06
R9623:Trim36	UTSW	18	46,308,623 (GRCm39)	missense	probably benign	0.16
R9763:Trim36	UTSW	18	46,309,125 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- CCACATACTCATGCTGGGCTTTTACAG -3'
(R):5'- ACAATGTAGATGGAGCCACTTGGAATG -3'

Sequencing Primer
(F):5'- GCCCCAGGGATGATAAATTTTG -3'
(R):5'- AGCCACTTGGAATGTTTGTTATTG -3'

Posted On

2014-05-14