Mutagenetix > Incidental Mutation

Incidental Mutation 'R8543:Trim17'

659480

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 #

R8543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58954685-58973098 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58971455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 438 (S438T)

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 damaging
Transcript: ENSMUST00000075141
AA Change: S438T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074639
Gene: ENSMUSG00000036964
AA Change: S438T

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: 99.8%
20x: 99.3%

Validation Efficiency

96% (47/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	T	A	17: 43,313,206	L839Q	probably null	Het
Ampd1	T	A	3: 103,079,170	F55Y	possibly damaging	Het
Ank3	A	G	10: 70,002,436	E891G	probably damaging	Het
Ankrd13c	A	G	3: 158,004,075		probably null	Het
Ankrd63	A	G	2: 118,703,123		probably benign	Het
Arhgap30	T	C	1: 171,404,962	S392P	probably damaging	Het
Arhgef11	A	T	3: 87,681,874	K16M	probably damaging	Het
Birc6	T	C	17: 74,565,865	V373A	probably damaging	Het
Blm	A	G	7: 80,494,216	M822T	probably damaging	Het
Car15	T	C	16: 17,836,849	N102D	probably benign	Het
Cdk14	A	T	5: 5,380,079	M16K	probably benign	Het
Cep350	A	G	1: 155,862,376	Y2574H	probably damaging	Het
Coro1a	C	A	7: 126,702,016	C104F	probably damaging	Het
D130043K22Rik	T	A	13: 24,889,869	L977Q	probably benign	Het
Dcaf1	T	G	9: 106,858,078	S742A	probably benign	Het
Dnajb11	A	T	16: 22,862,585	I38L	probably benign	Het
Eppk1	C	T	15: 76,110,119	R854Q	probably benign	Het
Fat4	A	C	3: 38,977,494	H2476P	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Gm14326	G	A	2: 177,945,659	R515W	probably damaging	Het
Gm49368	T	C	7: 128,080,261	Y192H	probably damaging	Het
Gm7579	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	7: 142,212,045		probably benign	Het
Gpr182	T	C	10: 127,750,992	H30R	probably benign	Het
Gprc5c	T	A	11: 114,864,268	V257E	probably damaging	Het
Iars2	T	C	1: 185,287,144	T982A	probably benign	Het
Ighg2b	C	A	12: 113,306,932	A193S	probably damaging	Het
Izumo1	T	A	7: 45,626,254	V329E	possibly damaging	Het
Kcnj6	A	T	16: 94,762,391	V398E	possibly damaging	Het
Lef1	T	A	3: 131,115,489	N117K	possibly damaging	Het
Ltbp4	T	C	7: 27,325,241	S655G	possibly damaging	Het
Magi3	A	T	3: 104,219,668	I100N	probably damaging	Het
Mettl17	G	A	14: 51,888,800	A222T	probably benign	Het
Notch4	A	G	17: 34,568,420	E318G	probably damaging	Het
Nqo2	A	T	13: 33,985,314		probably null	Het
Olfr1077-ps1	A	T	2: 86,526,042	M45K	probably damaging	Het
Ptpn18	T	C	1: 34,472,148	S324P	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rin1	A	G	19: 5,052,072	D203G	probably damaging	Het
Serpinb9c	T	A	13: 33,156,434	E128V	probably damaging	Het
Slc3a1	C	A	17: 85,028,497	N22K	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Tmco4	G	T	4: 139,053,940	V472L	probably benign	Het
Tmem132d	T	C	5: 128,268,735	E241G	probably benign	Het
Trmt44	T	C	5: 35,575,030	R6G	probably benign	Het
Vcl	G	T	14: 20,995,059	L277F	probably benign	Het
Vmn2r68	C	T	7: 85,234,440	M152I	probably benign	Het
Vmn2r94	C	T	17: 18,243,722	V769I	possibly damaging	Het
Vps13d	G	T	4: 145,016,783	S3027*	probably null	Het
Zfp282	A	G	6: 47,904,627	Q416R	probably benign	Het
Zfp668	A	G	7: 127,867,220	L264P	probably damaging	Het
Zfp747	A	G	7: 127,374,483	Y172H	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
R8791:Trim17	UTSW	11	58971176	missense	probably benign	0.00
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'- GCTTAAGTCCCCAGAAAACGG -3'
(R):5'- TTAACTCTTAGTGCCCCAGGG -3'

Sequencing Primer
(F):5'- AAAACGGCTTCTGGGTAGTGC -3'
(R):5'- GTGAAGCACCCTGCCTTCTG -3'

Posted On

2021-01-18