Mutagenetix > Incidental Mutation

Incidental Mutation 'R1769:Trim39'

194738

Institutional Source

Beutler Lab

Gene Symbol

Trim39

Ensembl Gene

ENSMUSG00000045409

Gene Name

tripartite motif-containing 39

Synonyms

1100001D15Rik, RING-B box-coiled-coil-B30.2, E130103K13Rik, Rnf23, tfp, RBCC-B30.2

MMRRC Submission

039800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1769 (G1)

Quality Score

174

Status

Validated

Chromosome

Chromosomal Location

36569764-36582896 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36574832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 190 (R190Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042717] [ENSMUST00000113706] [ENSMUST00000173369] [ENSMUST00000173665]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042717
AA Change: R190Q

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

SMART Domains

Protein: ENSMUSP00000039790
Gene: ENSMUSG00000045409
AA Change: R190Q

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
RING	29	69	1.9e-10	SMART
BBOX	102	143	3.21e-8	SMART
coiled coil region	184	240	N/A	INTRINSIC
PRY	306	359	2.3e-27	SMART
SPRY	360	485	1.95e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113704

Predicted Effect

probably damaging
Transcript: ENSMUST00000113706
AA Change: R190Q

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

SMART Domains

Protein: ENSMUSP00000109336
Gene: ENSMUSG00000045409
AA Change: R190Q

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
RING	29	69	1.9e-10	SMART
BBOX	102	143	3.21e-8	SMART
coiled coil region	184	240	N/A	INTRINSIC
PRY	306	359	2.3e-27	SMART
SPRY	360	485	1.95e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172832

Predicted Effect

probably damaging
Transcript: ENSMUST00000173369
AA Change: R190Q

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

SMART Domains

Protein: ENSMUSP00000133298
Gene: ENSMUSG00000045409
AA Change: R190Q

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
RING	29	69	1.9e-10	SMART
BBOX	102	143	3.21e-8	SMART
coiled coil region	184	240	N/A	INTRINSIC
PRY	314	367	1.23e-27	SMART
SPRY	368	493	1.95e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173665

SMART Domains

Protein: ENSMUSP00000133529
Gene: ENSMUSG00000045409

Domain	Start	End	E-Value	Type
BBOX	1	40	5.81e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174197

Meta Mutation Damage Score

0.2105

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (91/91)

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 function of this protein has not been identified. This gene lies within the major histocompatibility complex class I region on chromosome 6. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,644,519 (GRCm39)	I135V	probably benign	Het
Abca1	T	A	4: 53,074,325 (GRCm39)	K1119N	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Abcc9	T	C	6: 142,573,194 (GRCm39)		probably benign	Het
Akap3	A	G	6: 126,842,809 (GRCm39)	E476G	possibly damaging	Het
Aldh3b1	A	G	19: 3,968,740 (GRCm39)	F271S	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ascc3	T	C	10: 50,576,586 (GRCm39)	V847A	probably damaging	Het
Best3	A	G	10: 116,859,883 (GRCm39)	N381S	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Bmpr2	T	A	1: 59,907,520 (GRCm39)	L871Q	probably damaging	Het
Car13	T	A	3: 14,715,795 (GRCm39)	H104Q	probably benign	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Ccnb1ip1	T	C	14: 51,029,568 (GRCm39)	M165V	probably benign	Het
Cd4	A	T	6: 124,843,618 (GRCm39)	M431K	possibly damaging	Het
Cdh20	C	T	1: 109,980,606 (GRCm39)	T178I	probably damaging	Het
Ceacam3	C	T	7: 16,892,301 (GRCm39)	T348I	probably damaging	Het
Cfap54	C	T	10: 92,740,125 (GRCm39)		probably null	Het
Clcn6	A	T	4: 148,098,758 (GRCm39)		probably null	Het
Csf3	A	G	11: 98,593,246 (GRCm39)	Y121C	probably damaging	Het
Csmd3	C	T	15: 47,567,505 (GRCm39)		probably benign	Het
Cyp2c69	A	G	19: 39,864,815 (GRCm39)	I221T	probably benign	Het
Dgcr2	T	C	16: 17,675,115 (GRCm39)		probably benign	Het
Dhcr7	T	C	7: 143,401,250 (GRCm39)	F474S	probably damaging	Het
Dnah1	T	C	14: 31,032,839 (GRCm39)	I399V	probably null	Het
Efcab14	T	A	4: 115,610,188 (GRCm39)	L183Q	probably damaging	Het
Evx2	A	G	2: 74,489,501 (GRCm39)	V88A	probably benign	Het
Exph5	A	G	9: 53,285,109 (GRCm39)	N730S	probably benign	Het
Farsb	T	A	1: 78,443,620 (GRCm39)	K196I	probably benign	Het
Fbln7	C	T	2: 128,735,682 (GRCm39)		probably benign	Het
Fhdc1	A	G	3: 84,356,085 (GRCm39)	F453S	probably damaging	Het
Gast	T	A	11: 100,227,684 (GRCm39)	W89R	probably damaging	Het
Gata2	A	G	6: 88,182,237 (GRCm39)	S402G	probably benign	Het
Gin1	T	A	1: 97,720,162 (GRCm39)	S386T	probably benign	Het
Golgb1	A	G	16: 36,736,363 (GRCm39)	E1870G	probably damaging	Het
Hivep3	T	A	4: 119,954,768 (GRCm39)	V1028E	possibly damaging	Het
Ifi203	G	A	1: 173,756,326 (GRCm39)	R486*	probably null	Het
Ifi209	G	A	1: 173,468,728 (GRCm39)	S186N	probably benign	Het
Ifih1	C	T	2: 62,436,738 (GRCm39)	A562T	probably damaging	Het
Itch	T	C	2: 155,014,481 (GRCm39)	L106S	probably damaging	Het
Itga4	T	A	2: 79,146,050 (GRCm39)		probably null	Het
Kdm4c	A	G	4: 74,199,234 (GRCm39)	S141G	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klra3	T	C	6: 130,307,226 (GRCm39)		probably null	Het
Lama2	A	T	10: 27,084,402 (GRCm39)	S923T	probably damaging	Het
Lama2	G	C	10: 27,084,403 (GRCm39)	F922L	probably benign	Het
Llgl1	G	A	11: 60,597,873 (GRCm39)	V331M	probably damaging	Het
Lrrc30	T	C	17: 67,938,676 (GRCm39)	*301W	probably null	Het
Map1lc3b	C	T	8: 122,320,226 (GRCm39)		probably benign	Het
Mbd2	A	G	18: 70,749,690 (GRCm39)	I302V	probably benign	Het
Med27	A	G	2: 29,390,307 (GRCm39)	Y78C	probably damaging	Het
Mei1	C	T	15: 81,996,771 (GRCm39)		probably null	Het
Mideas	G	A	12: 84,205,124 (GRCm39)		probably benign	Het
Miga1	T	C	3: 151,993,191 (GRCm39)	E346G	probably damaging	Het
Myef2	A	G	2: 124,957,363 (GRCm39)	S131P	probably damaging	Het
Myocd	T	C	11: 65,069,527 (GRCm39)	H899R	probably benign	Het
Ncam1	A	G	9: 49,456,556 (GRCm39)		probably benign	Het
Ngf	T	A	3: 102,427,513 (GRCm39)	N87K	possibly damaging	Het
Nol10	T	A	12: 17,466,709 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,385,231 (GRCm39)	I221V	probably benign	Het
Nup205	G	A	6: 35,182,366 (GRCm39)	G777D	probably damaging	Het
Or5ac17	A	G	16: 59,036,344 (GRCm39)	F211L	probably benign	Het
Or5b96	A	G	19: 12,867,047 (GRCm39)	V298A	probably damaging	Het
Or6c1	T	A	10: 129,518,081 (GRCm39)	T176S	probably benign	Het
Or7g35	A	T	9: 19,496,682 (GRCm39)	Q283L	probably damaging	Het
Or8d6	G	T	9: 39,854,251 (GRCm39)	D232Y	probably benign	Het
Oxt	A	T	2: 130,418,220 (GRCm39)	R31W	probably damaging	Het
Pde4dip	A	G	3: 97,603,246 (GRCm39)	S2248P	probably benign	Het
Pias1	A	G	9: 62,859,460 (GRCm39)	V16A	probably damaging	Het
Pkp2	T	C	16: 16,080,561 (GRCm39)	S616P	probably damaging	Het
Plch2	T	C	4: 155,084,540 (GRCm39)	Y379C	probably damaging	Het
Pnpt1	A	G	11: 29,104,159 (GRCm39)	N540D	probably benign	Het
Ptpn23	G	A	9: 110,220,746 (GRCm39)	H255Y	possibly damaging	Het
Rad21	T	C	15: 51,835,703 (GRCm39)	N237D	probably benign	Het
Ryr3	A	C	2: 112,582,113 (GRCm39)		probably null	Het
Sgk1	C	A	10: 21,873,007 (GRCm39)		probably benign	Het
Slc1a5	G	T	7: 16,531,464 (GRCm39)	A490S	probably damaging	Het
Slc5a8	T	C	10: 88,755,326 (GRCm39)	Y478H	probably benign	Het
Slc5a8	T	A	10: 88,755,328 (GRCm39)	Y478*	probably null	Het
Slc9a3	A	T	13: 74,311,190 (GRCm39)	M562L	probably benign	Het
Spmip4	A	G	6: 50,568,801 (GRCm39)		probably benign	Het
Thsd7a	G	A	6: 12,555,714 (GRCm39)	R57*	probably null	Het
Tiam1	T	C	16: 89,657,167 (GRCm39)	R690G	probably damaging	Het
Tmem150b	A	G	7: 4,727,365 (GRCm39)	S47P	probably damaging	Het
Ttc32	A	T	12: 9,085,073 (GRCm39)	I98L	possibly damaging	Het
Vps13c	A	G	9: 67,873,003 (GRCm39)	T3304A	probably benign	Het
Wdr35	A	C	12: 9,062,728 (GRCm39)	D638A	probably damaging	Het
Wwc1	G	T	11: 35,752,671 (GRCm39)	P797T	probably benign	Het
Zan	T	A	5: 137,462,780 (GRCm39)	T800S	unknown	Het
Zbbx	A	G	3: 74,990,926 (GRCm39)		probably benign	Het
Zup1	T	C	10: 33,811,172 (GRCm39)	M291V	probably damaging	Het

Other mutations in Trim39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Trim39	APN	17	36,574,855 (GRCm39)	splice site	probably benign
IGL01462:Trim39	APN	17	36,574,617 (GRCm39)	splice site	probably benign
IGL02243:Trim39	APN	17	36,571,276 (GRCm39)	missense	probably damaging	1.00
IGL03390:Trim39	APN	17	36,571,463 (GRCm39)	missense	probably damaging	0.99
barba	UTSW	17	36,579,746 (GRCm39)	missense	probably damaging	1.00
rossa	UTSW	17	36,571,807 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Trim39	UTSW	17	36,579,862 (GRCm39)	missense	possibly damaging	0.93
R0458:Trim39	UTSW	17	36,572,404 (GRCm39)	missense	probably damaging	1.00
R0569:Trim39	UTSW	17	36,574,623 (GRCm39)	missense	probably benign	0.36
R1565:Trim39	UTSW	17	36,579,746 (GRCm39)	missense	probably damaging	1.00
R1969:Trim39	UTSW	17	36,579,645 (GRCm39)	missense	probably benign	0.01
R2009:Trim39	UTSW	17	36,574,646 (GRCm39)	missense	possibly damaging	0.92
R2568:Trim39	UTSW	17	36,580,056 (GRCm39)	unclassified	probably benign
R5206:Trim39	UTSW	17	36,571,382 (GRCm39)	missense	probably damaging	1.00
R5443:Trim39	UTSW	17	36,571,645 (GRCm39)	missense	probably damaging	1.00
R6481:Trim39	UTSW	17	36,579,554 (GRCm39)	missense	probably benign	0.03
R7132:Trim39	UTSW	17	36,571,547 (GRCm39)	missense	probably benign	0.25
R7563:Trim39	UTSW	17	36,571,807 (GRCm39)	missense	probably damaging	1.00
R7739:Trim39	UTSW	17	36,571,396 (GRCm39)	missense	possibly damaging	0.50
R8433:Trim39	UTSW	17	36,571,597 (GRCm39)	missense	possibly damaging	0.87
R9200:Trim39	UTSW	17	36,579,667 (GRCm39)	missense	probably benign	0.04
R9468:Trim39	UTSW	17	36,571,492 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- AGCCTGACTGTAAGCACTTGCC -3'
(R):5'- AGTGATCCAACTGCTGTTTGAGTCC -3'

Sequencing Primer
(F):5'- GTAAGCACTTGCCCTCCAC -3'
(R):5'- CGTTAGCAAAAGCACGTTTCAG -3'

Posted On

2014-05-23