Mutagenetix > Incidental Mutation

Incidental Mutation 'R8791:Trim17'

670954

Institutional Source

Beutler Lab

Gene Symbol

Trim17

Ensembl Gene

ENSMUSG00000036964

Gene Name

tripartite motif-containing 17

Synonyms

terf, Rnf16

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58954685-58973098 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58971176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 345 (S345G)

Ref Sequence

ENSEMBL: ENSMUSP00000074639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047697] [ENSMUST00000075141]

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: ENSMUST00000075141
AA Change: S345G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074639
Gene: ENSMUSG00000036964
AA Change: S345G

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
PRY	294	347	8.95e-16	SMART
SPRY	348	472	2.54e-30	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,187,260	Y654C	probably damaging	Het
4931422A03Rik	G	T	2: 103,992,677	T87K	possibly damaging	Het
Adar	G	A	3: 89,736,138	R442Q	probably benign	Het
Agtr1b	T	A	3: 20,316,116	S109C	probably damaging	Het
Akr1c6	T	A	13: 4,449,374	Y248N	probably benign	Het
Alpk2	A	T	18: 65,305,526	V932E	probably benign	Het
Apba3	T	A	10: 81,269,270	S126T	probably benign	Het
Brca2	T	A	5: 150,542,596	S1942T	possibly damaging	Het
Ccdc149	C	T	5: 52,439,210	C20Y	probably damaging	Het
Cd63	C	A	10: 128,912,202	N156K	probably benign	Het
Clvs1	A	G	4: 9,429,807	E270G	probably damaging	Het
Dgki	A	T	6: 37,019,940	D574E	probably damaging	Het
Esrrb	A	G	12: 86,470,282	S63G	probably damaging	Het
Exoc1	C	T	5: 76,535,565	R46C	probably damaging	Het
Fcgr4	C	A	1: 171,019,908	A25D	probably damaging	Het
Fgf4	T	C	7: 144,861,671	V56A	probably benign	Het
Gfpt2	A	G	11: 49,823,216	I267V	probably benign	Het
Gm20939	A	C	17: 94,877,220	H432P	probably damaging	Het
Gpr179	A	T	11: 97,351,913	L35Q	probably damaging	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Ildr1	T	C	16: 36,708,400	I69T	probably damaging	Het
Lrfn1	A	G	7: 28,459,919	D421G	probably benign	Het
Mmp15	C	T	8: 95,369,660	Q360*	probably null	Het
Nfatc2	T	C	2: 168,536,294	K484E	probably damaging	Het
Nkpd1	G	C	7: 19,524,170	V625L	probably benign	Het
Nlrp4a	C	A	7: 26,444,136		probably benign	Het
Nme9	T	A	9: 99,468,248	I178N	probably damaging	Het
Nrp2	C	T	1: 62,749,197	T352I	probably damaging	Het
Ntrk1	T	C	3: 87,779,683	I723V	probably damaging	Het
Olfr469	C	T	7: 107,823,350	V40M	possibly damaging	Het
Pias3	C	A	3: 96,704,885	Q553K	probably benign	Het
Pnp2	T	G	14: 50,963,416	H119Q	probably benign	Het
Rapgef6	T	A	11: 54,568,469	D156E	probably benign	Het
Rint1	T	C	5: 23,800,596	V92A	probably damaging	Het
Rnf148	A	T	6: 23,654,994	M1K	probably null	Het
Rnh1	C	T	7: 141,162,433	R404H	probably benign	Het
Slc4a8	T	C	15: 100,807,253	V832A	possibly damaging	Het
Snx31	A	T	15: 36,537,532	C167S	probably benign	Het
Spata13	C	T	14: 60,691,826	R278C	probably damaging	Het
Spg20	A	G	3: 55,121,679	D297G	probably benign	Het
Tmc1	T	C	19: 20,789,845	T716A	probably benign	Het
Tpi1	A	G	6: 124,812,520	V164A	probably damaging	Het
Vmn1r199	T	A	13: 22,383,517	L327Q	probably damaging	Het
Washc4	C	T	10: 83,550,884	T124I	probably benign	Het
Wdr76	C	T	2: 121,527,003	T180I	probably benign	Het
Zcchc8	T	C	5: 123,707,299	N333D	probably benign	Het
Zfp516	T	C	18: 82,957,335	S553P	probably damaging	Het

Other mutations in Trim17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01524:Trim17	APN	11	58970597	missense	probably damaging	1.00
IGL02581:Trim17	APN	11	58971076	nonsense	probably null
P0026:Trim17	UTSW	11	58971258	missense	possibly damaging	0.83
R0518:Trim17	UTSW	11	58968494	missense	probably damaging	0.99
R0521:Trim17	UTSW	11	58968494	missense	probably damaging	0.99
R0765:Trim17	UTSW	11	58971369	missense	possibly damaging	0.73
R1165:Trim17	UTSW	11	58971215	missense	possibly damaging	0.92
R1441:Trim17	UTSW	11	58965192	missense	probably damaging	1.00
R2164:Trim17	UTSW	11	58971411	missense	probably damaging	1.00
R2320:Trim17	UTSW	11	58966798	missense	probably benign
R3436:Trim17	UTSW	11	58965233	missense	probably damaging	1.00
R4715:Trim17	UTSW	11	58968450	intron	probably benign
R4832:Trim17	UTSW	11	58971444	missense	probably damaging	0.97
R4928:Trim17	UTSW	11	58954301	unclassified	probably benign
R4950:Trim17	UTSW	11	58970428	missense	probably damaging	0.98
R5339:Trim17	UTSW	11	58954510	splice site	probably null
R5909:Trim17	UTSW	11	58968680	missense	probably damaging	1.00
R5915:Trim17	UTSW	11	58968562	missense	probably damaging	0.99
R5947:Trim17	UTSW	11	58965543	missense	probably damaging	1.00
R6732:Trim17	UTSW	11	58971025	critical splice acceptor site	probably null
R7027:Trim17	UTSW	11	58968616	missense	probably benign	0.08
R7143:Trim17	UTSW	11	58965184	nonsense	probably null
R7168:Trim17	UTSW	11	58968578	missense	probably benign
R7682:Trim17	UTSW	11	58966808	missense	possibly damaging	0.82
R7707:Trim17	UTSW	11	58965284	nonsense	probably null
R7972:Trim17	UTSW	11	58968568	missense	probably benign	0.01
R8543:Trim17	UTSW	11	58971455	missense	probably damaging	1.00
R8894:Trim17	UTSW	11	58968710	missense	probably benign	0.00
R9015:Trim17	UTSW	11	58965231	missense	probably damaging	0.99
R9026:Trim17	UTSW	11	58971447	missense	probably benign	0.01
R9269:Trim17	UTSW	11	58971431	missense	probably damaging	1.00
R9609:Trim17	UTSW	11	58965138	missense	probably damaging	1.00
Z1177:Trim17	UTSW	11	58965389	missense	probably damaging	0.99
Z1186:Trim17	UTSW	11	58965505	missense	probably benign	0.00
Z1186:Trim17	UTSW	11	58970446	missense	probably benign
Z1187:Trim17	UTSW	11	58965505	missense	probably benign	0.00
Z1187:Trim17	UTSW	11	58970446	missense	probably benign
Z1188:Trim17	UTSW	11	58965505	missense	probably benign	0.00
Z1188:Trim17	UTSW	11	58970446	missense	probably benign
Z1189:Trim17	UTSW	11	58965505	missense	probably benign	0.00
Z1189:Trim17	UTSW	11	58970446	missense	probably benign
Z1190:Trim17	UTSW	11	58965505	missense	probably benign	0.00
Z1190:Trim17	UTSW	11	58970446	missense	probably benign
Z1191:Trim17	UTSW	11	58965505	missense	probably benign	0.00
Z1191:Trim17	UTSW	11	58970446	missense	probably benign
Z1192:Trim17	UTSW	11	58965505	missense	probably benign	0.00
Z1192:Trim17	UTSW	11	58970446	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATCTTGAGGGTTCTGGCTC -3'
(R):5'- TTGGGTAACAGGGACAGCTG -3'

Sequencing Primer
(F):5'- GAGGGTTCTGGCTCATTCACC -3'
(R):5'- GGACTTAAGCACTCTGTCC -3'

Posted On

2021-04-30