Mutagenetix > Incidental Mutation

Incidental Mutation 'R9015:Trim17'

685934

Institutional Source

Beutler Lab

Gene Symbol

Trim17

Ensembl Gene

ENSMUSG00000036964

Gene Name

tripartite motif-containing 17

Synonyms

Rnf16, terf

MMRRC Submission

068845-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58845511-58863923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58856057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 38 (E38G)

Ref Sequence

ENSEMBL: ENSMUSP00000074639 (fasta)

Gene Model

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

AlphaFold

Q7TPM3

Predicted Effect

probably benign
Transcript: ENSMUST00000047697
AA Change: E38G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000037248
Gene: ENSMUSG00000036964
AA Change: E38G

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: E38G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074639
Gene: ENSMUSG00000036964
AA Change: E38G

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (93/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,136,688 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,150,847 (GRCm39)	D335G	probably damaging	Het
Adcy8	T	C	15: 64,597,206 (GRCm39)		probably benign	Het
Alas1	A	T	9: 106,113,670 (GRCm39)	I525N	probably benign	Het
Aoah	A	T	13: 21,184,197 (GRCm39)		silent	Het
Aox1	G	A	1: 58,382,851 (GRCm39)	V1044M	probably damaging	Het
Apcdd1	A	T	18: 63,083,157 (GRCm39)	Y329F	possibly damaging	Het
Arhgap10	A	C	8: 77,985,687 (GRCm39)	C727G	probably benign	Het
Arid4a	G	A	12: 71,122,168 (GRCm39)	D528N	possibly damaging	Het
Atp8a1	A	G	5: 67,887,250 (GRCm39)	V611A		Het
BC004004	T	C	17: 29,517,637 (GRCm39)	F284L	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,244,264 (GRCm39)	I1397M	probably benign	Het
Cep63	A	G	9: 102,496,111 (GRCm39)	S99P	probably damaging	Het
Coq3	T	A	4: 21,899,107 (GRCm39)	S147T	probably benign	Het
Crym	A	T	7: 119,801,090 (GRCm39)	S20T	probably benign	Het
Ctr9	T	A	7: 110,643,108 (GRCm39)	N493K	probably benign	Het
Dchs2	A	G	3: 83,188,751 (GRCm39)	I1372V	possibly damaging	Het
Ddi2	G	A	4: 141,412,747 (GRCm39)	T55M	probably benign	Het
Dnah1	T	C	14: 30,986,316 (GRCm39)	M3724V	probably damaging	Het
Dst	A	G	1: 34,326,337 (GRCm39)	I4690V	probably benign	Het
Ect2l	T	C	10: 18,039,148 (GRCm39)	T429A	probably benign	Het
Eif3c	G	T	7: 126,155,538 (GRCm39)	H577N	probably damaging	Het
Erg	A	G	16: 95,162,126 (GRCm39)	S334P	possibly damaging	Het
Faf2	A	G	13: 54,796,139 (GRCm39)	S127G	probably benign	Het
Fbxl3	T	A	14: 103,329,790 (GRCm39)	T141S	possibly damaging	Het
Fbxw4	T	A	19: 45,624,874 (GRCm39)	M122L	probably benign	Het
Fgd4	T	C	16: 16,271,941 (GRCm39)	M476V	probably damaging	Het
Flvcr2	A	T	12: 85,829,779 (GRCm39)	I263F	probably benign	Het
Gadl1	A	T	9: 115,794,705 (GRCm39)	R293S	probably benign	Het
Gm11983	G	T	11: 6,787,033 (GRCm39)	F31L	unknown	Het
Gmnn	A	T	13: 24,940,638 (GRCm39)	N70K	probably benign	Het
Gpr3	A	G	4: 132,938,390 (GRCm39)	V94A	possibly damaging	Het
Greb1l	A	G	18: 10,541,675 (GRCm39)	S1141G	probably benign	Het
Helz2	A	T	2: 180,870,792 (GRCm39)	V2892E	probably damaging	Het
Hivep1	T	A	13: 42,311,849 (GRCm39)	M1363K	probably benign	Het
Hk1	T	A	10: 62,128,118 (GRCm39)	T336S	possibly damaging	Het
Hpgds	A	T	6: 65,115,229 (GRCm39)	I18N	possibly damaging	Het
Insrr	T	A	3: 87,720,910 (GRCm39)	L1056Q	probably damaging	Het
Ints10	A	G	8: 69,260,139 (GRCm39)	M288V	probably benign	Het
Itgb6	T	C	2: 60,485,032 (GRCm39)	D237G	probably damaging	Het
Kcnf1	A	G	12: 17,225,303 (GRCm39)	I306T	probably damaging	Het
Kdm3b	G	A	18: 34,963,212 (GRCm39)	G1556D	probably damaging	Het
Kif5b	A	G	18: 6,216,892 (GRCm39)	L477P	probably damaging	Het
Klf5	T	G	14: 99,540,919 (GRCm39)	*310G	probably null	Het
Lnx1	A	G	5: 74,780,783 (GRCm39)	V246A	probably benign	Het
Ly75	C	T	2: 60,146,442 (GRCm39)	E1279K	probably benign	Het
Lztr1	T	A	16: 17,337,305 (GRCm39)	C233S	probably benign	Het
Mfsd6l	T	G	11: 68,447,536 (GRCm39)	I129S	probably benign	Het
Mrgprx2	T	A	7: 48,148,938 (GRCm39)		probably benign	Het
Ncapd2	A	T	6: 125,145,285 (GRCm39)		probably benign	Het
Or10ag53	T	A	2: 87,082,546 (GRCm39)	Y88*	probably null	Het
Or12e9	T	A	2: 87,202,485 (GRCm39)	M203K	possibly damaging	Het
Or2a25	G	T	6: 42,888,825 (GRCm39)	V123L	possibly damaging	Het
Or8g30	A	C	9: 39,230,019 (GRCm39)	V297G	probably damaging	Het
Pde6a	A	G	18: 61,397,047 (GRCm39)	H631R	probably damaging	Het
Pfkl	C	T	10: 77,824,794 (GRCm39)	G665D	probably damaging	Het
Pik3ap1	T	A	19: 41,270,430 (GRCm39)	E753V	probably damaging	Het
Pik3cd	G	T	4: 149,740,055 (GRCm39)	R502S	probably benign	Het
Piwil2	T	A	14: 70,627,984 (GRCm39)	I762L	probably benign	Het
Pkd1	T	A	17: 24,784,636 (GRCm39)	L394*	probably null	Het
Plekhb2	A	G	1: 34,916,046 (GRCm39)	D195G	probably benign	Het
Plppr5	T	C	3: 117,456,103 (GRCm39)	M208T	probably damaging	Het
Polr2i	G	A	7: 29,932,513 (GRCm39)	V115I	unknown	Het
Prkacb	T	C	3: 146,456,239 (GRCm39)	S187G	probably null	Het
Prkag3	G	T	1: 74,780,353 (GRCm39)	H437Q	probably benign	Het
Prlr	T	A	15: 10,319,352 (GRCm39)	Y94N	probably damaging	Het
Prmt6	T	C	3: 110,157,214 (GRCm39)	I358M	probably benign	Het
Psd4	A	G	2: 24,287,492 (GRCm39)	R475G		Het
Rad51b	G	A	12: 79,347,417 (GRCm39)	C27Y	probably damaging	Het
Scfd2	A	G	5: 74,691,625 (GRCm39)	L219P	probably damaging	Het
Scn5a	G	A	9: 119,381,142 (GRCm39)		probably benign	Het
Sec24d	T	C	3: 123,121,287 (GRCm39)	V391A	probably benign	Het
Selenbp2	T	A	3: 94,607,332 (GRCm39)	L251Q	probably damaging	Het
Sh3rf1	T	C	8: 61,827,202 (GRCm39)	V652A	probably benign	Het
Slc11a2	A	G	15: 100,301,186 (GRCm39)	V289A	probably benign	Het
Smim29	T	C	17: 27,783,223 (GRCm39)	D48G	probably benign	Het
Sox8	T	A	17: 25,789,135 (GRCm39)	Y121F	probably damaging	Het
Taar7a	A	T	10: 23,868,733 (GRCm39)	I216N	probably damaging	Het
Tanc1	T	A	2: 59,622,224 (GRCm39)	S448T	probably benign	Het
Tas2r119	G	A	15: 32,178,226 (GRCm39)	G264D	probably damaging	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Trub2	A	T	2: 29,668,276 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,571,964 (GRCm39)	M26310L	probably damaging	Het
Unc13c	T	G	9: 73,453,322 (GRCm39)	I1823L	probably benign	Het
Vav2	C	A	2: 27,160,151 (GRCm39)	E728*	probably null	Het
Virma	A	G	4: 11,540,494 (GRCm39)	D1465G	probably benign	Het
Vmn2r72	T	G	7: 85,398,388 (GRCm39)	M531L	probably benign	Het
Vwa3b	G	A	1: 37,203,597 (GRCm39)	V59I	possibly damaging	Het
Xrcc1	G	A	7: 24,271,642 (GRCm39)	E542K	probably benign	Het
Zdhhc6	T	G	19: 55,287,318 (GRCm39)	T381P	probably benign	Het
Zdhhc8	T	C	16: 18,041,141 (GRCm39)	S740G	probably damaging	Het
Zfp106	T	C	2: 120,364,019 (GRCm39)	K819R	probably 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
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
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'- AGTTGAGCAAGGCGCCATTC -3'
(R):5'- ACAGCTTAAGGGGTTCTTGG -3'

Sequencing Primer
(F):5'- AAGGCGCCATTCTGGGATC -3'
(R):5'- ACAGGTCTCGCTTCTGCAG -3'

Posted On

2021-10-11