Mutagenetix > Incidental Mutation

Incidental Mutation 'R4928:Trim17'

381021

Institutional Source

Beutler Lab

Gene Symbol

Trim17

Ensembl Gene

ENSMUSG00000036964

Gene Name

tripartite motif-containing 17

Synonyms

Rnf16, terf

MMRRC Submission

042529-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58845511-58863923 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 58845127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047697] [ENSMUST00000078267] [ENSMUST00000108817]

AlphaFold

Q7TPM3

Predicted Effect

probably benign
Transcript: ENSMUST00000047697

SMART Domains

Protein: ENSMUSP00000037248
Gene: ENSMUSG00000036964

Domain	Start	End	E-Value	Type
RING	16	65	1.17e-10	SMART
BBOX	94	135	4.1e-15	SMART
coiled coil region	143	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078267

SMART Domains

Protein: ENSMUSP00000076397
Gene: ENSMUSG00000056895

Domain	Start	End	E-Value	Type
H2B	28	124	4.33e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108817

SMART Domains

Protein: ENSMUSP00000104445
Gene: ENSMUSG00000078851

Domain	Start	End	E-Value	Type
H2A	3	123	1.33e-81	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198018

Meta Mutation Damage Score

0.1683

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

98% (123/126)

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 protein localizes to cytoplasmic bodies. The protein is expressed almost exclusively in the testis, but its function is unknown. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530021J07Rik	G	T	7: 82,805,086 (GRCm39)		noncoding transcript	Het
Aasdh	T	A	5: 77,044,535 (GRCm39)	K118N	possibly damaging	Het
Abca14	A	T	7: 119,923,803 (GRCm39)	N1620I	possibly damaging	Het
Acap1	A	T	11: 69,776,641 (GRCm39)	S149T	possibly damaging	Het
Adgre1	T	A	17: 57,751,064 (GRCm39)	Y579*	probably null	Het
Aifm3	T	C	16: 17,318,296 (GRCm39)		probably benign	Het
Aldh16a1	A	G	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Amer2	A	T	14: 60,616,894 (GRCm39)	H363L	possibly damaging	Het
Arhgap10	A	G	8: 78,152,957 (GRCm39)		probably null	Het
Arhgef6	A	T	X: 56,280,238 (GRCm39)	D742E	probably damaging	Het
Astn2	A	T	4: 65,647,644 (GRCm39)	N731K	probably damaging	Het
Atp1a2	T	C	1: 172,105,954 (GRCm39)	T904A	possibly damaging	Het
Atr	C	T	9: 95,789,352 (GRCm39)	R1503W	probably damaging	Het
Cdh3	G	T	8: 107,263,242 (GRCm39)	R97L	probably benign	Het
Chst2	C	T	9: 95,288,059 (GRCm39)	V96I	probably benign	Het
Cit	T	A	5: 116,123,856 (GRCm39)	N1464K	probably benign	Het
Col17a1	A	T	19: 47,658,897 (GRCm39)		probably null	Het
Col4a3	G	A	1: 82,688,698 (GRCm39)		probably benign	Het
Copz1	T	A	15: 103,199,757 (GRCm39)	S57R	probably damaging	Het
Cpped1	A	T	16: 11,646,143 (GRCm39)	F227Y	probably damaging	Het
Cyp2j12	A	T	4: 95,990,388 (GRCm39)		probably null	Het
Dctn1	T	A	6: 83,166,189 (GRCm39)	I195N	possibly damaging	Het
Dhrs7b	A	G	11: 60,742,751 (GRCm39)	I148V	probably benign	Het
Dnah17	T	C	11: 117,918,259 (GRCm39)	D4096G	probably damaging	Het
Dnajc13	T	C	9: 104,110,837 (GRCm39)	N145D	possibly damaging	Het
Ecpas	A	G	4: 58,827,073 (GRCm39)	V1020A	probably damaging	Het
Entrep2	G	T	7: 64,409,116 (GRCm39)	S426*	probably null	Het
Ercc6l2	T	C	13: 64,042,627 (GRCm39)		probably benign	Het
Fads6	T	G	11: 115,187,387 (GRCm39)	I103L	probably benign	Het
Fat4	T	G	3: 39,064,614 (GRCm39)	Y4857D	probably damaging	Het
Fbxl14	T	A	6: 119,457,671 (GRCm39)	L284Q	probably damaging	Het
Fkbp9	T	C	6: 56,826,655 (GRCm39)	V85A	possibly damaging	Het
Galnt13	T	A	2: 54,406,577 (GRCm39)	V9E	probably damaging	Het
Gm14412	A	T	2: 177,006,373 (GRCm39)	S507R	probably benign	Het
Gm15142	T	A	X: 153,421,415 (GRCm39)		noncoding transcript	Het
Gm4787	T	C	12: 81,425,612 (GRCm39)	E182G	probably benign	Het
Gm6811	C	A	17: 21,314,893 (GRCm39)		noncoding transcript	Het
Gm9791	A	T	3: 34,059,218 (GRCm39)		noncoding transcript	Het
Hoxb7	A	T	11: 96,180,336 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,892,819 (GRCm39)		probably benign	Het
Krt28	C	T	11: 99,265,458 (GRCm39)	V70I	probably benign	Het
Lig1	T	C	7: 13,032,664 (GRCm39)	S459P	probably damaging	Het
Lrfn3	C	T	7: 30,060,048 (GRCm39)	R59H	possibly damaging	Het
Mavs	T	C	2: 131,088,663 (GRCm39)	V489A	probably benign	Het
Mcm8	C	T	2: 132,681,399 (GRCm39)	P625L	probably benign	Het
Megf10	G	T	18: 57,373,745 (GRCm39)	R181L	probably benign	Het
Mgrn1	G	A	16: 4,745,726 (GRCm39)	G440D	probably benign	Het
Mllt3	T	C	4: 87,700,642 (GRCm39)		probably null	Het
Muc5ac	T	A	7: 141,371,639 (GRCm39)	Y2613*	probably null	Het
Myh14	C	T	7: 44,284,926 (GRCm39)	G662S	probably benign	Het
Myod1	T	A	7: 46,026,474 (GRCm39)	N126K	probably damaging	Het
Nae1	A	T	8: 105,242,774 (GRCm39)	H439Q	possibly damaging	Het
Narf	T	A	11: 121,135,765 (GRCm39)	V136E	possibly damaging	Het
Ncapd3	T	A	9: 26,983,031 (GRCm39)	C926*	probably null	Het
Ndufv2	C	A	17: 66,399,653 (GRCm39)		probably null	Het
Neb	T	C	2: 52,102,987 (GRCm39)	S449G	possibly damaging	Het
Nek10	C	T	14: 14,930,577 (GRCm38)	P698L	probably damaging	Het
Nox3	T	A	17: 3,685,550 (GRCm39)	E566V	probably null	Het
Oas1a	C	T	5: 121,043,787 (GRCm39)	R115H	probably benign	Het
Or10ag60	C	A	2: 87,438,487 (GRCm39)	L252I	probably benign	Het
Or51b6	A	G	7: 103,555,879 (GRCm39)	T78A	probably damaging	Het
Or5w19	A	G	2: 87,698,574 (GRCm39)	M80V	probably benign	Het
Or8k30	T	A	2: 86,339,469 (GRCm39)	L222H	probably damaging	Het
Pbld2	A	G	10: 62,883,778 (GRCm39)	H142R	probably damaging	Het
Pcdha4	C	T	18: 37,087,869 (GRCm39)	T684M	probably benign	Het
Phc3	G	T	3: 31,005,068 (GRCm39)	T175N	probably damaging	Het
Pigs	G	T	11: 78,219,828 (GRCm39)	V68L	probably damaging	Het
Pik3c2g	T	A	6: 139,913,528 (GRCm39)	D857E	possibly damaging	Het
Pitpnm3	G	A	11: 71,953,998 (GRCm39)	P550S	probably damaging	Het
Pla2g15	G	A	8: 106,889,850 (GRCm39)	W374*	probably null	Het
Ptpn14	G	A	1: 189,554,839 (GRCm39)	C133Y	probably damaging	Het
Ptpn20	A	G	14: 33,336,446 (GRCm39)	N95S	probably benign	Het
Ptrh2	G	T	11: 86,580,862 (GRCm39)	V160F	probably damaging	Het
Rapgef3	T	C	15: 97,655,256 (GRCm39)	D486G	probably damaging	Het
Rev3l	T	G	10: 39,699,981 (GRCm39)	S1493A	probably benign	Het
Rgs9	T	A	11: 109,116,570 (GRCm39)	D411V	probably benign	Het
Rgsl1	A	T	1: 153,669,514 (GRCm39)	Y291N	probably damaging	Het
Rprd2	A	G	3: 95,671,849 (GRCm39)	Y1185H	probably damaging	Het
Rpusd3	A	G	6: 113,393,167 (GRCm39)		probably benign	Het
Scnn1a	T	C	6: 125,299,136 (GRCm39)	I72T	probably damaging	Het
Sdk1	A	T	5: 141,842,758 (GRCm39)		probably benign	Het
Sfmbt2	T	C	2: 10,450,556 (GRCm39)	L277P	probably benign	Het
Sgf29	A	G	7: 126,264,154 (GRCm39)	E73G	probably damaging	Het
Slc12a6	T	A	2: 112,183,306 (GRCm39)	F764L	probably damaging	Het
Slc4a2	T	C	5: 24,640,340 (GRCm39)		probably null	Het
Slc9a3	T	G	13: 74,305,838 (GRCm39)	V285G	probably damaging	Het
Slc9c1	A	G	16: 45,395,772 (GRCm39)	T608A	probably benign	Het
Slfnl1	C	T	4: 120,392,882 (GRCm39)	R325C	probably damaging	Het
Smarcad1	T	A	6: 65,051,898 (GRCm39)	F344I	probably benign	Het
Snrnp70	A	T	7: 45,026,705 (GRCm39)		probably null	Het
Sod2	C	T	17: 13,227,073 (GRCm39)	T9M	probably benign	Het
Spag5	T	A	11: 78,205,199 (GRCm39)	S633T	probably damaging	Het
Spta1	A	T	1: 174,018,622 (GRCm39)	I531L	probably benign	Het
Stra8	A	G	6: 34,910,091 (GRCm39)	E60G	probably benign	Het
Sult2a3	T	A	7: 13,845,482 (GRCm39)	I126F	probably benign	Het
Syt1	T	C	10: 108,340,373 (GRCm39)	H315R	possibly damaging	Het
Tanc2	T	C	11: 105,758,588 (GRCm39)	L783P	probably damaging	Het
Thbs2	C	T	17: 14,899,162 (GRCm39)	C646Y	probably damaging	Het
Ticam2	T	A	18: 46,693,989 (GRCm39)	K33*	probably null	Het
Tsr1	G	A	11: 74,798,705 (GRCm39)	M691I	probably benign	Het
Ttn	T	A	2: 76,592,763 (GRCm39)	I20790F	probably damaging	Het
Tubb2b	A	T	13: 34,312,168 (GRCm39)	Y208*	probably null	Het
Ubr1	T	A	2: 120,745,419 (GRCm39)	I890F	probably damaging	Het
Usp54	T	C	14: 20,612,260 (GRCm39)	E852G	probably damaging	Het
Vmn2r78	T	C	7: 86,603,835 (GRCm39)	V671A	probably damaging	Het
Wipi1	T	C	11: 109,470,475 (GRCm39)	K315E	probably benign	Het
Xrn2	T	C	2: 146,893,638 (GRCm39)	V735A	possibly damaging	Het
Zdbf2	T	A	1: 63,347,973 (GRCm39)	D2117E	possibly damaging	Het
Zfp287	A	T	11: 62,604,962 (GRCm39)	C648*	probably null	Het
Zfp369	A	G	13: 65,444,614 (GRCm39)	T586A	possibly damaging	Het

Other mutations in Trim17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Trim17	APN	11	58,861,423 (GRCm39)	missense	probably damaging	1.00
IGL02581:Trim17	APN	11	58,861,902 (GRCm39)	nonsense	probably null
P0026:Trim17	UTSW	11	58,862,084 (GRCm39)	missense	possibly damaging	0.83
R0518:Trim17	UTSW	11	58,859,320 (GRCm39)	missense	probably damaging	0.99
R0521:Trim17	UTSW	11	58,859,320 (GRCm39)	missense	probably damaging	0.99
R0765:Trim17	UTSW	11	58,862,195 (GRCm39)	missense	possibly damaging	0.73
R1165:Trim17	UTSW	11	58,862,041 (GRCm39)	missense	possibly damaging	0.92
R1441:Trim17	UTSW	11	58,856,018 (GRCm39)	missense	probably damaging	1.00
R2164:Trim17	UTSW	11	58,862,237 (GRCm39)	missense	probably damaging	1.00
R2320:Trim17	UTSW	11	58,857,624 (GRCm39)	missense	probably benign
R3436:Trim17	UTSW	11	58,856,059 (GRCm39)	missense	probably damaging	1.00
R4715:Trim17	UTSW	11	58,859,276 (GRCm39)	intron	probably benign
R4832:Trim17	UTSW	11	58,862,270 (GRCm39)	missense	probably damaging	0.97
R4950:Trim17	UTSW	11	58,861,254 (GRCm39)	missense	probably damaging	0.98
R5339:Trim17	UTSW	11	58,845,336 (GRCm39)	splice site	probably null
R5909:Trim17	UTSW	11	58,859,506 (GRCm39)	missense	probably damaging	1.00
R5915:Trim17	UTSW	11	58,859,388 (GRCm39)	missense	probably damaging	0.99
R5947:Trim17	UTSW	11	58,856,369 (GRCm39)	missense	probably damaging	1.00
R6732:Trim17	UTSW	11	58,861,851 (GRCm39)	critical splice acceptor site	probably null
R7027:Trim17	UTSW	11	58,859,442 (GRCm39)	missense	probably benign	0.08
R7143:Trim17	UTSW	11	58,856,010 (GRCm39)	nonsense	probably null
R7168:Trim17	UTSW	11	58,859,404 (GRCm39)	missense	probably benign
R7682:Trim17	UTSW	11	58,857,634 (GRCm39)	missense	possibly damaging	0.82
R7707:Trim17	UTSW	11	58,856,110 (GRCm39)	nonsense	probably null
R7972:Trim17	UTSW	11	58,859,394 (GRCm39)	missense	probably benign	0.01
R8543:Trim17	UTSW	11	58,862,281 (GRCm39)	missense	probably damaging	1.00
R8791:Trim17	UTSW	11	58,862,002 (GRCm39)	missense	probably benign	0.00
R8894:Trim17	UTSW	11	58,859,536 (GRCm39)	missense	probably benign	0.00
R9015:Trim17	UTSW	11	58,856,057 (GRCm39)	missense	probably damaging	0.99
R9026:Trim17	UTSW	11	58,862,273 (GRCm39)	missense	probably benign	0.01
R9269:Trim17	UTSW	11	58,862,257 (GRCm39)	missense	probably damaging	1.00
R9609:Trim17	UTSW	11	58,855,964 (GRCm39)	missense	probably damaging	1.00
Z1177:Trim17	UTSW	11	58,856,215 (GRCm39)	missense	probably damaging	0.99
Z1186:Trim17	UTSW	11	58,861,272 (GRCm39)	missense	probably benign
Z1186:Trim17	UTSW	11	58,856,331 (GRCm39)	missense	probably benign	0.00
Z1187:Trim17	UTSW	11	58,861,272 (GRCm39)	missense	probably benign
Z1187:Trim17	UTSW	11	58,856,331 (GRCm39)	missense	probably benign	0.00
Z1188:Trim17	UTSW	11	58,861,272 (GRCm39)	missense	probably benign
Z1188:Trim17	UTSW	11	58,856,331 (GRCm39)	missense	probably benign	0.00
Z1189:Trim17	UTSW	11	58,861,272 (GRCm39)	missense	probably benign
Z1189:Trim17	UTSW	11	58,856,331 (GRCm39)	missense	probably benign	0.00
Z1190:Trim17	UTSW	11	58,861,272 (GRCm39)	missense	probably benign
Z1190:Trim17	UTSW	11	58,856,331 (GRCm39)	missense	probably benign	0.00
Z1191:Trim17	UTSW	11	58,861,272 (GRCm39)	missense	probably benign
Z1191:Trim17	UTSW	11	58,856,331 (GRCm39)	missense	probably benign	0.00
Z1192:Trim17	UTSW	11	58,861,272 (GRCm39)	missense	probably benign
Z1192:Trim17	UTSW	11	58,856,331 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCCTTTGAATTGAGGGCAC -3'
(R):5'- TATTCTTGCTACAGGGGCGTC -3'

Sequencing Primer
(F):5'- TCGGACACAGCATGCTTG -3'
(R):5'- CCGCGTTTCCGTAGTACAACTAG -3'

Posted On

2016-04-15