Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01524:Trim17'

89511

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim17

Ensembl Gene

ENSMUSG00000036964

Gene Name

tripartite motif-containing 17

Synonyms

terf, Rnf16

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01524

Quality Score

Status

Chromosome

Chromosomal Location

58954685-58973098 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58970597 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 279 (T279A)

Ref Sequence

ENSEMBL: ENSMUSP00000074639 (fasta)

Gene Model

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

Predicted Effect

silent
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 damaging
Transcript: ENSMUST00000075141
AA Change: T279A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074639
Gene: ENSMUSG00000036964
AA Change: T279A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131221

Coding Region Coverage

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. 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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,942,382	D1081G	possibly damaging	Het
Aadat	A	T	8: 60,516,072	D117V	probably damaging	Het
Abca14	T	C	7: 120,253,421	Y870H	possibly damaging	Het
Ankrd36	T	C	11: 5,635,092	I301T	probably benign	Het
Atp10b	T	A	11: 43,259,845	S1457T	probably benign	Het
Ccdc175	G	A	12: 72,131,142		probably benign	Het
Ccdc93	A	G	1: 121,461,899	K224E	probably benign	Het
Cep131	C	T	11: 120,065,960	A886T	probably damaging	Het
Clip1	A	C	5: 123,579,379	H1282Q	probably damaging	Het
Ctcfl	T	G	2: 173,117,384	D183A	probably benign	Het
Cyp17a1	C	T	19: 46,671,056	V112I	probably benign	Het
D3Ertd254e	T	C	3: 36,164,580	Y251H	possibly damaging	Het
Fhod3	T	C	18: 25,130,602	I1521T	probably damaging	Het
Gipc2	A	G	3: 152,137,577	I141T	probably damaging	Het
Glo1	T	C	17: 30,596,419	R141G	possibly damaging	Het
Ipmk	C	A	10: 71,372,801	A140E	probably damaging	Het
Kynu	A	G	2: 43,671,382	D310G	possibly damaging	Het
Myo1f	T	A	17: 33,579,883	I174N	probably damaging	Het
Nat10	T	A	2: 103,757,757	N8Y	probably damaging	Het
Nhlrc2	A	G	19: 56,576,155	I304V	probably benign	Het
Pdk4	T	C	6: 5,491,979	H31R	probably damaging	Het
Sema6d	T	C	2: 124,664,075	V644A	possibly damaging	Het
Slc30a4	T	A	2: 122,702,388	K11N	possibly damaging	Het
Slc6a3	T	C	13: 73,538,549	S12P	probably benign	Het
Spats2	C	T	15: 99,212,246	A508V	probably benign	Het
Tinag	A	G	9: 77,045,538	Y55H	probably damaging	Het
Topbp1	T	C	9: 103,311,645	I172T	possibly damaging	Het
Vmn1r216	C	A	13: 23,099,349	N67K	probably benign	Het
Washc4	T	C	10: 83,576,132	L709P	probably benign	Het
Xdh	T	C	17: 73,923,137		probably null	Het
Zfhx4	C	T	3: 5,243,976	P754L	probably damaging	Het
Zfp623	C	A	15: 75,947,679	S161R	probably benign	Het
Zmat3	G	A	3: 32,341,678	R227C	possibly damaging	Het

Other mutations in Trim17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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	unclassified	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
Z1177:Trim17	UTSW	11	58965389	missense	probably damaging	0.99

Posted On

2013-12-03