Mutagenetix > Incidental Mutation

Incidental Mutation 'R4832:Trim17'

372921

Institutional Source

Beutler Lab

Gene Symbol

Trim17

Ensembl Gene

ENSMUSG00000036964

Gene Name

tripartite motif-containing 17

Synonyms

Rnf16, terf

MMRRC Submission

042448-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4832 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58845511-58863923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58862270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 434 (V434E)

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: V434E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074639
Gene: ENSMUSG00000036964
AA Change: V434E

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

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (106/108)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,597 (GRCm39)	V186A	possibly damaging	Het
1700088E04Rik	A	T	15: 79,019,409 (GRCm39)	M198K	probably damaging	Het
4933402J07Rik	A	G	8: 88,294,601 (GRCm39)	K84R	probably null	Het
Aamdc	T	C	7: 97,199,773 (GRCm39)		probably null	Het
Abcc9	A	G	6: 142,617,282 (GRCm39)	V594A	probably damaging	Het
Adamts13	G	A	2: 26,879,414 (GRCm39)	D656N	probably benign	Het
Adcy10	G	T	1: 165,334,213 (GRCm39)	C122F	probably damaging	Het
Adi1	A	G	12: 28,725,252 (GRCm39)	M1V	probably null	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Akt1	G	T	12: 112,623,521 (GRCm39)	P313Q	probably damaging	Het
Ano3	A	T	2: 110,498,067 (GRCm39)	M758K	probably damaging	Het
Baz2a	T	A	10: 127,958,999 (GRCm39)	N1168K	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bcap29	A	G	12: 31,674,202 (GRCm39)	I131T	probably benign	Het
Brd10	G	T	19: 29,694,616 (GRCm39)	L1626I	possibly damaging	Het
Btnl6	T	C	17: 34,732,966 (GRCm39)	D299G	possibly damaging	Het
Ccdc66	A	G	14: 27,222,524 (GRCm39)	I73T	probably benign	Het
Cdh2	A	G	18: 16,760,754 (GRCm39)	S538P	probably benign	Het
Cfap54	T	A	10: 92,803,390 (GRCm39)	M1551L	probably benign	Het
Chd2	G	A	7: 73,151,873 (GRCm39)	A243V	probably damaging	Het
Cntnap1	T	A	11: 101,073,845 (GRCm39)	N665K	probably damaging	Het
Colgalt2	C	T	1: 152,360,749 (GRCm39)	T262I	possibly damaging	Het
Cyp24a1	T	C	2: 170,338,098 (GRCm39)	I149V	probably benign	Het
Cyp2a5	T	A	7: 26,534,970 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,366,080 (GRCm39)		probably null	Het
Dnah17	T	A	11: 117,917,606 (GRCm39)	I4158F	probably damaging	Het
Dnm2	G	A	9: 21,385,975 (GRCm39)		probably null	Het
Dpp7	A	T	2: 25,242,398 (GRCm39)		probably benign	Het
Epha6	T	A	16: 59,780,776 (GRCm39)	I642F	probably damaging	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Fancd2	A	G	6: 113,530,683 (GRCm39)	T439A	probably benign	Het
Fat1	G	A	8: 45,466,102 (GRCm39)	V1431M	possibly damaging	Het
Fhod3	G	A	18: 25,223,305 (GRCm39)	A884T	probably benign	Het
Fsip2	A	G	2: 82,820,515 (GRCm39)	D5416G	possibly damaging	Het
Gabarap	C	T	11: 69,882,678 (GRCm39)		probably benign	Het
Garre1	T	C	7: 33,938,333 (GRCm39)		probably benign	Het
Gm11544	C	T	11: 94,736,532 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,964 (GRCm39)	K304Q	probably benign	Het
Gpr141b	T	A	13: 19,913,840 (GRCm39)		noncoding transcript	Het
Gramd4	C	T	15: 86,019,057 (GRCm39)	A575V	probably benign	Het
Gtpbp10	G	A	5: 5,589,295 (GRCm39)	A274V	possibly damaging	Het
Gzmb	A	G	14: 56,497,679 (GRCm39)	I187T	probably damaging	Het
H2-M10.2	G	A	17: 36,595,219 (GRCm39)	T315I	probably damaging	Het
Haus5	A	T	7: 30,356,452 (GRCm39)	F524I	probably damaging	Het
Herc1	A	G	9: 66,403,253 (GRCm39)	S4391G	probably benign	Het
Herc2	T	A	7: 55,748,165 (GRCm39)	L511*	probably null	Het
Htt	T	A	5: 34,982,184 (GRCm39)	C923S	probably benign	Het
Idua	T	C	5: 108,817,247 (GRCm39)	S7P	probably benign	Het
Ighv16-1	A	T	12: 114,032,466 (GRCm39)	L112Q	probably damaging	Het
Igkv1-110	A	G	6: 68,248,185 (GRCm39)	K98R	probably benign	Het
Kif15	G	A	9: 122,831,191 (GRCm39)		probably null	Het
Leng9	C	A	7: 4,152,029 (GRCm39)	G216W	probably damaging	Het
Lrpprc	A	G	17: 85,014,584 (GRCm39)	L1306S	probably benign	Het
Lztfl1	C	A	9: 123,544,454 (GRCm39)	E20D	possibly damaging	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Map3k4	C	T	17: 12,490,667 (GRCm39)	E255K	probably damaging	Het
Megf9	G	A	4: 70,452,665 (GRCm39)	T132M	probably damaging	Het
Mob4	T	C	1: 55,184,411 (GRCm39)		probably benign	Het
Mttp	G	A	3: 137,821,811 (GRCm39)	A252V	probably benign	Het
Mxi1	A	G	19: 53,358,745 (GRCm39)	D226G	probably damaging	Het
Myh14	A	G	7: 44,274,566 (GRCm39)	S1249P	probably benign	Het
Mylk	G	A	16: 34,742,737 (GRCm39)	G1083D	probably benign	Het
Mylk4	T	G	13: 32,905,960 (GRCm39)	I408L	probably benign	Het
Nbas	A	G	12: 13,533,740 (GRCm39)	S1792G	probably benign	Het
Nelfb	A	G	2: 25,099,981 (GRCm39)	V212A	probably damaging	Het
Nisch	T	C	14: 30,899,587 (GRCm39)		probably benign	Het
Nqo1	C	G	8: 108,115,477 (GRCm39)	D267H	probably benign	Het
Or8u10	C	A	2: 85,915,190 (GRCm39)	L310F	probably benign	Het
Pcid2	T	A	8: 13,135,425 (GRCm39)	I195F	probably damaging	Het
Pcnx2	A	T	8: 126,478,927 (GRCm39)	M2107K	probably damaging	Het
Pgd	A	T	4: 149,241,048 (GRCm39)		probably benign	Het
Prim2	T	C	1: 33,503,145 (GRCm39)	M430V	probably benign	Het
Prkaa1	A	G	15: 5,190,101 (GRCm39)	T40A	probably damaging	Het
Ptges	T	C	2: 30,793,232 (GRCm39)		probably benign	Het
Ptprn	T	C	1: 75,234,909 (GRCm39)	E226G	probably benign	Het
Rab14	A	G	2: 35,079,978 (GRCm39)	F55S	probably damaging	Het
Ralgps2	A	T	1: 156,684,637 (GRCm39)		probably benign	Het
Rgs11	C	T	17: 26,426,542 (GRCm39)	H258Y	probably benign	Het
Rhpn2	T	C	7: 35,075,774 (GRCm39)		probably null	Het
Rprd2	A	T	3: 95,681,483 (GRCm39)	V452E	probably damaging	Het
Scube3	C	A	17: 28,384,989 (GRCm39)	H646Q	probably damaging	Het
Selp	A	T	1: 163,953,909 (GRCm39)	I70F	probably damaging	Het
Septin2	A	G	1: 93,426,849 (GRCm39)	I153V	probably damaging	Het
Sh3rf3	G	A	10: 58,649,905 (GRCm39)	S170N	probably benign	Het
Skint4	A	T	4: 112,000,963 (GRCm39)	I353F	possibly damaging	Het
Slc16a12	A	G	19: 34,657,780 (GRCm39)	I41T	possibly damaging	Het
Snai2	T	C	16: 14,524,881 (GRCm39)	F129S	probably damaging	Het
Top3b	C	T	16: 16,708,526 (GRCm39)	R629*	probably null	Het
Ttn	G	A	2: 76,615,327 (GRCm39)	P15051L	probably damaging	Het
Uggt2	A	T	14: 119,239,259 (GRCm39)	I1391N	probably damaging	Het
Usp8	A	T	2: 126,596,958 (GRCm39)	M923L	probably damaging	Het
Vmn1r176	T	C	7: 23,534,463 (GRCm39)	H230R	possibly damaging	Het
Vmn1r217	C	A	13: 23,298,159 (GRCm39)	D248Y	probably damaging	Het
Vmn2r14	A	T	5: 109,363,976 (GRCm39)	C647S	probably damaging	Het
Vwa5b1	A	G	4: 138,332,851 (GRCm39)	I237T	probably damaging	Het
Zan	T	A	5: 137,391,423 (GRCm39)	D4687V	unknown	Het
Zfp273	T	C	13: 67,973,484 (GRCm39)	V204A	probably benign	Het
Zfp956	T	G	6: 47,928,987 (GRCm39)		probably benign	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
R4928:Trim17	UTSW	11	58,845,127 (GRCm39)	unclassified	probably benign
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'- CAGAGTGCTTAAGTCCCCAG -3'
(R):5'- ATTAACTCTTAGTGCCCCAGG -3'

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

Posted On

2016-03-01