Mutagenetix > Incidental Mutation

Incidental Mutation 'R0751:Trim36'

70364

Institutional Source

Beutler Lab

Gene Symbol

Trim36

Ensembl Gene

ENSMUSG00000033949

Gene Name

tripartite motif-containing 36

Synonyms

Haprin, D18Wsu100e

MMRRC Submission

038931-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R0751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46298367-46345674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46329318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 41 (T41A)

Ref Sequence

ENSEMBL: ENSMUSP00000037978 (fasta)

Gene Model

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

AlphaFold

Q80WG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037011
AA Change: T41A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037978
Gene: ENSMUSG00000033949
AA Change: T41A

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 damaging
Transcript: ENSMUST00000167364
AA Change: T29A

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

SMART Domains

Protein: ENSMUSP00000129771
Gene: ENSMUSG00000033949
AA Change: T29A

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

0.1078

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	A	4: 132,792,707 (GRCm39)	M1316K	probably benign	Het
Alox12	T	C	11: 70,137,776 (GRCm39)	I455V	probably benign	Het
Ankrd28	A	G	14: 31,486,225 (GRCm39)	L89P	probably damaging	Het
Aqp9	A	T	9: 71,045,487 (GRCm39)	C41S	probably damaging	Het
Arhgap17	T	C	7: 122,913,913 (GRCm39)	Y199C	probably damaging	Het
Aspm	A	T	1: 139,384,636 (GRCm39)		probably benign	Het
Cacfd1	T	C	2: 26,908,993 (GRCm39)		probably null	Het
Cd33	T	C	7: 43,181,545 (GRCm39)	D205G	probably damaging	Het
Chadl	T	C	15: 81,577,258 (GRCm39)	S198G	probably benign	Het
Chtf8	A	G	8: 107,613,109 (GRCm39)		probably null	Het
Clec4a4	G	T	6: 122,989,671 (GRCm39)	W104L	probably benign	Het
Clock	A	T	5: 76,377,208 (GRCm39)	I696K	possibly damaging	Het
Crtc2	T	A	3: 90,169,940 (GRCm39)	Y445*	probably null	Het
Dapk1	A	T	13: 60,844,112 (GRCm39)	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,270,204 (GRCm39)		probably null	Het
Derl2	T	C	11: 70,905,373 (GRCm39)		probably null	Het
Dnah7c	A	G	1: 46,505,065 (GRCm39)	T154A	probably benign	Het
Dnmt3b	T	A	2: 153,516,762 (GRCm39)		probably null	Het
Dusp3	A	T	11: 101,872,554 (GRCm39)	S106T	probably benign	Het
Eftud2	A	G	11: 102,730,079 (GRCm39)	V897A	probably damaging	Het
Eif3l	T	A	15: 78,959,966 (GRCm39)		probably null	Het
Fbxo33	A	C	12: 59,265,878 (GRCm39)	F130V	probably damaging	Het
Ffar3	T	A	7: 30,554,529 (GRCm39)	N264Y	probably damaging	Het
Fig4	T	C	10: 41,148,978 (GRCm39)	D158G	probably damaging	Het
Fyco1	A	G	9: 123,648,218 (GRCm39)	F1239L	probably damaging	Het
Gabra2	A	G	5: 71,249,442 (GRCm39)		probably benign	Het
Gabra6	C	A	11: 42,205,844 (GRCm39)	R336S	probably benign	Het
Hkdc1	T	C	10: 62,234,452 (GRCm39)	D581G	probably damaging	Het
Ift70a2	C	T	2: 75,808,375 (GRCm39)	A46T	probably damaging	Het
Iqgap1	A	G	7: 80,375,321 (GRCm39)		probably benign	Het
Larp4b	T	C	13: 9,216,345 (GRCm39)		probably benign	Het
Lcp1	A	T	14: 75,436,827 (GRCm39)	M58L	probably benign	Het
Lrrc8a	T	C	2: 30,146,362 (GRCm39)	V392A	possibly damaging	Het
Mavs	A	T	2: 131,088,684 (GRCm39)	Y496F	probably damaging	Het
Mpi	A	T	9: 57,457,897 (GRCm39)	S102T	probably damaging	Het
Mroh9	G	A	1: 162,893,693 (GRCm39)	R161W	possibly damaging	Het
Myo1h	A	T	5: 114,458,747 (GRCm39)	S161C	probably damaging	Het
Napg	T	G	18: 63,127,409 (GRCm39)	H204Q	probably benign	Het
Nelfcd	C	A	2: 174,264,807 (GRCm39)	A182D	probably benign	Het
Ntsr2	G	T	12: 16,704,031 (GRCm39)	K91N	probably damaging	Het
Obscn	A	G	11: 58,972,645 (GRCm39)	S2134P	probably damaging	Het
Ogfod2	G	A	5: 124,251,539 (GRCm39)		probably benign	Het
Or13a19	G	A	7: 139,903,238 (GRCm39)	V209I	probably benign	Het
Or1e26	G	T	11: 73,479,970 (GRCm39)	T198K	probably benign	Het
Pcdha8	T	C	18: 37,127,123 (GRCm39)	V535A	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pik3r1	T	C	13: 101,822,866 (GRCm39)		probably null	Het
Pimreg	C	A	11: 71,933,939 (GRCm39)	Q22K	probably benign	Het
Pld5	A	G	1: 175,872,462 (GRCm39)	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,667,195 (GRCm39)		probably benign	Het
Ppip5k2	A	T	1: 97,677,377 (GRCm39)	C306*	probably null	Het
Ptprc	A	G	1: 138,020,668 (GRCm39)	Y588H	probably damaging	Het
Rac2	T	G	15: 78,450,145 (GRCm39)	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,888,676 (GRCm39)		probably null	Het
Serpinb1a	T	C	13: 33,027,199 (GRCm39)	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,443,757 (GRCm39)	E259A	probably benign	Het
Slc12a4	A	T	8: 106,678,532 (GRCm39)	V266E	probably damaging	Het
Slc8b1	A	G	5: 120,662,260 (GRCm39)		probably benign	Het
Spink6	T	C	18: 44,204,605 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,012,256 (GRCm39)	R354H	probably damaging	Het
Ssb	T	A	2: 69,700,909 (GRCm39)	S330T	probably benign	Het
Stard9	G	T	2: 120,527,966 (GRCm39)	V1408F	probably benign	Het
Sumf2	A	T	5: 129,878,846 (GRCm39)	T61S	probably benign	Het
Sypl2	T	C	3: 108,124,072 (GRCm39)	T157A	probably damaging	Het
Tgfbr3	A	T	5: 107,287,749 (GRCm39)	D483E	probably damaging	Het
Tnrc6a	A	G	7: 122,769,563 (GRCm39)	N451S	possibly damaging	Het
Tradd	T	C	8: 105,986,403 (GRCm39)	E123G	probably damaging	Het
Ttll7	C	T	3: 146,645,746 (GRCm39)	P535S	probably damaging	Het
Ubr4	C	T	4: 139,164,509 (GRCm39)		probably benign	Het
Uqcc5	G	T	14: 30,810,953 (GRCm39)		probably benign	Het
Vmn1r195	A	G	13: 22,463,181 (GRCm39)	Y217C	probably damaging	Het
Vmn2r63	A	C	7: 42,577,459 (GRCm39)	F360V	probably damaging	Het
Vmn2r78	G	A	7: 86,603,588 (GRCm39)	V589M	possibly damaging	Het
Vmn2r-ps158	A	G	7: 42,696,833 (GRCm39)	Y630C	probably damaging	Het
Vrk2	A	G	11: 26,433,331 (GRCm39)		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
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
R1687:Trim36	UTSW	18	46,321,724 (GRCm39)	missense	possibly damaging	0.93
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'- CACGTACCTGGTCTGTTAATCTTGTCG -3'
(R):5'- CCGTAAAGTCCTAAGTCAGGGACTCG -3'

Sequencing Primer
(F):5'- CGATTTTATCCATGCTAGGGGAG -3'
(R):5'- caagacaggatttctctttggaac -3'

Posted On

2013-09-30