Mutagenetix > Incidental Mutation

Incidental Mutation 'R1184:Trim36'

101992

Institutional Source

Beutler Lab

Gene Symbol

Trim36

Ensembl Gene

ENSMUSG00000033949

Gene Name

tripartite motif-containing 36

Synonyms

Haprin, D18Wsu100e

MMRRC Submission

039256-MU

Accession Numbers

Essential gene?

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

Stock #

R1184 (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: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (83/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,137,894 (GRCm39)	R7G	probably damaging	Het
Ahdc1	T	A	4: 132,792,707 (GRCm39)	M1316K	probably benign	Het
Alkal1	A	G	1: 6,459,712 (GRCm39)	Y96C	probably damaging	Het
Anxa2r1	A	T	13: 120,496,667 (GRCm39)	N67K	probably benign	Het
Arhgap17	T	C	7: 122,913,913 (GRCm39)	Y199C	probably damaging	Het
Bmp2	T	C	2: 133,403,388 (GRCm39)	V313A	probably damaging	Het
Cacna1b	C	T	2: 24,577,757 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,140,876 (GRCm39)	T141A	probably damaging	Het
Ccdc57	A	G	11: 120,764,637 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,970,183 (GRCm39)		probably null	Het
Chadl	T	C	15: 81,577,258 (GRCm39)	S198G	probably benign	Het
Chd6	G	C	2: 160,872,722 (GRCm39)	P286R	probably damaging	Het
Clec4a4	G	T	6: 122,989,671 (GRCm39)	W104L	probably benign	Het
Coq4	G	A	2: 29,678,346 (GRCm39)		probably benign	Het
Cplane1	G	T	15: 8,245,971 (GRCm39)	V1448L	probably benign	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
Dcun1d4	T	C	5: 73,668,455 (GRCm39)		probably benign	Het
Depdc7	A	T	2: 104,560,523 (GRCm39)		probably benign	Het
Dna2	A	G	10: 62,794,977 (GRCm39)	D416G	probably benign	Het
Dnah2	A	T	11: 69,390,016 (GRCm39)	I743N	probably damaging	Het
Dnah9	A	G	11: 65,975,438 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,846,999 (GRCm39)	S877P	probably damaging	Het
Eif3l	T	A	15: 78,959,966 (GRCm39)		probably null	Het
Epha5	A	T	5: 84,219,134 (GRCm39)		probably null	Het
Ffar3	T	A	7: 30,554,529 (GRCm39)	N264Y	probably damaging	Het
Fyb1	A	T	15: 6,668,381 (GRCm39)	I525F	probably damaging	Het
Fyco1	A	G	9: 123,648,218 (GRCm39)	F1239L	probably damaging	Het
Gcdh	T	C	8: 85,620,071 (GRCm39)		probably benign	Het
Gk5	T	C	9: 96,032,473 (GRCm39)		probably benign	Het
Grm1	A	G	10: 10,595,778 (GRCm39)	Y617H	probably benign	Het
Gvin-ps3	A	G	7: 105,683,159 (GRCm39)	V32A	probably benign	Het
Hhipl2	A	T	1: 183,206,042 (GRCm39)	I131L	probably damaging	Het
Larp4b	T	C	13: 9,216,345 (GRCm39)		probably benign	Het
Lrig2	T	A	3: 104,398,227 (GRCm39)	I301F	possibly damaging	Het
Man2a2	A	T	7: 80,012,713 (GRCm39)	I600N	possibly damaging	Het
Mylk2	G	C	2: 152,755,661 (GRCm39)		probably null	Het
Myo6	C	T	9: 80,193,664 (GRCm39)	Q870*	probably null	Het
Napg	T	G	18: 63,127,409 (GRCm39)	H204Q	probably benign	Het
Neb	G	A	2: 52,153,959 (GRCm39)	T2384M	probably damaging	Het
Nek10	A	G	14: 14,931,325 (GRCm38)		probably benign	Het
Or11h23	A	C	14: 50,948,071 (GRCm39)	T95P	probably benign	Het
Or4c111	A	G	2: 88,844,057 (GRCm39)	M117T	probably damaging	Het
Or5an6	T	C	19: 12,372,221 (GRCm39)	V198A	probably benign	Het
Or5b108	T	G	19: 13,168,739 (GRCm39)	L236R	probably damaging	Het
Pclo	A	G	5: 14,572,276 (GRCm39)	T554A	unknown	Het
Perm1	C	A	4: 156,301,771 (GRCm39)	T105K	probably damaging	Het
Pik3r1	T	C	13: 101,822,866 (GRCm39)		probably null	Het
Pld5	A	G	1: 175,872,462 (GRCm39)	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,667,195 (GRCm39)		probably benign	Het
Ptpn12	A	C	5: 21,203,354 (GRCm39)	S475A	possibly damaging	Het
Ptprt	A	G	2: 161,769,692 (GRCm39)	V391A	possibly 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
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sebox	A	T	11: 78,394,675 (GRCm39)	T47S	probably damaging	Het
Sema4b	A	G	7: 79,874,388 (GRCm39)	T593A	probably benign	Het
Serpina3a	C	T	12: 104,082,787 (GRCm39)	Q187*	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
Slc30a3	T	A	5: 31,247,510 (GRCm39)	H44L	probably damaging	Het
Smarca2	T	C	19: 26,748,333 (GRCm39)		probably benign	Het
Snrnp200	T	A	2: 127,078,737 (GRCm39)	C1801S	probably damaging	Het
Soat1	G	A	1: 156,269,944 (GRCm39)		probably null	Het
Spink6	T	C	18: 44,204,605 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,012,256 (GRCm39)	R354H	probably damaging	Het
Tbck	T	A	3: 132,543,733 (GRCm39)	H861Q	probably benign	Het
Tgfbrap1	G	A	1: 43,088,856 (GRCm39)	T849M	possibly damaging	Het
Tnrc6a	A	G	7: 122,769,563 (GRCm39)	N451S	possibly damaging	Het
Trmt112	C	A	19: 6,887,721 (GRCm39)		probably benign	Het
Trpc4ap	A	G	2: 155,486,990 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,645,746 (GRCm39)	P535S	probably damaging	Het
Ttn	A	T	2: 76,691,776 (GRCm39)		probably benign	Het
Txndc11	C	T	16: 10,946,364 (GRCm39)	R149Q	probably benign	Het
Ubr4	C	T	4: 139,164,509 (GRCm39)		probably benign	Het
Usp30	G	A	5: 114,241,888 (GRCm39)		probably null	Het
Vmn1r195	A	G	13: 22,463,181 (GRCm39)	Y217C	probably damaging	Het
Vps33b	T	A	7: 79,932,234 (GRCm39)	D135E	probably benign	Het
Vrk2	A	G	11: 26,433,331 (GRCm39)		probably benign	Het
Wdr81	G	T	11: 75,343,809 (GRCm39)	P486Q	probably damaging	Het
Zfp788	T	C	7: 41,297,750 (GRCm39)	Y129H	probably damaging	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
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

2014-01-15