Mutagenetix > Incidental Mutation

Incidental Mutation 'R7853:Trim2'

607044

Institutional Source

Beutler Lab

Gene Symbol

Trim2

Ensembl Gene

ENSMUSG00000027993

Gene Name

tripartite motif-containing 2

Synonyms

neural activity-related ring finger protein, narf

MMRRC Submission

045906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R7853 (G1)

Quality Score

131.008

Status

Not validated

Chromosome

Chromosomal Location

84067746-84214184 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 84212537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107692] [ENSMUST00000122849] [ENSMUST00000132283]

AlphaFold

Q9ESN6

Predicted Effect

probably benign
Transcript: ENSMUST00000107692

SMART Domains

Protein: ENSMUSP00000103320
Gene: ENSMUSG00000027993

Domain	Start	End	E-Value	Type
RING	23	63	3.5e-9	SMART
BBOX	113	154	3.52e-14	SMART
BBC	161	287	1.7e-38	SMART
IG_FLMN	324	424	2.41e-30	SMART
Pfam:NHL	486	513	8e-8	PFAM
Pfam:NHL	533	560	6.6e-8	PFAM
Pfam:NHL	575	602	1.1e-6	PFAM
Pfam:NHL	622	649	5.6e-9	PFAM
Pfam:NHL	669	696	4.1e-12	PFAM
Pfam:NHL	713	740	5.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122849

SMART Domains

Protein: ENSMUSP00000120981
Gene: ENSMUSG00000027993

Domain	Start	End	E-Value	Type
RING	41	81	3.5e-9	SMART
BBOX	131	172	3.52e-14	SMART
Blast:BBC	179	213	3e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000132283

SMART Domains

Protein: ENSMUSP00000118888
Gene: ENSMUSG00000027993

Domain	Start	End	E-Value	Type
RING	23	63	3.5e-9	SMART
BBOX	113	154	3.52e-14	SMART
Blast:BBC	161	191	2e-12	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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 filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit tremors, ataxia and seizures associated with neurodegeneration of Purkinje cells, deep cerebellar nuclei and retinal ganglion cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,315,600 (GRCm39)	I26T	probably damaging	Het
Aadacl4	G	T	4: 144,344,592 (GRCm39)	A123S	probably benign	Het
Adamts20	A	C	15: 94,243,871 (GRCm39)	C619G	probably damaging	Het
Ahcyl1	C	A	3: 107,575,604 (GRCm39)	V394L	probably benign	Het
Ankrd17	A	C	5: 90,386,825 (GRCm39)	L2378V	possibly damaging	Het
B3gnt3	T	C	8: 72,145,357 (GRCm39)	Y337C	probably damaging	Het
Bcl10	A	G	3: 145,630,266 (GRCm39)	K18R	possibly damaging	Het
Calcr	G	A	6: 3,707,499 (GRCm39)	A267V	probably benign	Het
Ces1d	C	T	8: 93,901,695 (GRCm39)	G425S	probably benign	Het
Col1a1	G	T	11: 94,838,505 (GRCm39)	R899L	unknown	Het
Commd1	C	T	11: 22,906,532 (GRCm39)	R168H	possibly damaging	Het
Cps1	T	C	1: 67,213,640 (GRCm39)	S791P	possibly damaging	Het
Ctsj	T	A	13: 61,151,884 (GRCm39)	I58F	probably damaging	Het
Cyp2j5	T	A	4: 96,529,656 (GRCm39)	K238N	probably benign	Het
Dlgap4	A	G	2: 156,547,802 (GRCm39)	D423G	probably benign	Het
Eef1ece2	T	A	16: 20,463,010 (GRCm39)		probably null	Het
Egln1	T	C	8: 125,675,256 (GRCm39)	N180D	probably benign	Het
Ehd1	T	C	19: 6,327,225 (GRCm39)	F74S	probably damaging	Het
Ext1	G	A	15: 52,970,881 (GRCm39)	A350V	probably damaging	Het
Fam186b	T	A	15: 99,178,628 (GRCm39)	I233F	probably damaging	Het
Fam193a	T	G	5: 34,597,473 (GRCm39)	N91K	probably benign	Het
Far1	T	A	7: 113,153,355 (GRCm39)	N329K	probably damaging	Het
Fhad1	A	G	4: 141,637,134 (GRCm39)	S1111P	probably damaging	Het
Fhl2	A	G	1: 43,180,984 (GRCm39)	S69P	probably damaging	Het
Flg2	C	A	3: 93,128,054 (GRCm39)	P2322Q	unknown	Het
Flvcr1	A	G	1: 190,757,843 (GRCm39)	Y108H	probably damaging	Het
Fos	T	A	12: 85,522,792 (GRCm39)	S235T	probably benign	Het
Foxf1	T	A	8: 121,811,438 (GRCm39)	S101T	probably damaging	Het
Gfer	C	A	17: 24,913,259 (GRCm39)	D198Y	probably damaging	Het
Ggps1	T	C	13: 14,229,034 (GRCm39)	I50V	probably benign	Het
Gkn2	A	G	6: 87,355,255 (GRCm39)	T155A	probably benign	Het
Gna12	C	T	5: 140,746,449 (GRCm39)	C332Y	probably damaging	Het
Hc	T	A	2: 34,900,045 (GRCm39)	Y1096F	probably damaging	Het
Hoxa3	G	A	6: 52,147,267 (GRCm39)		probably benign	Het
Hsd17b8	T	G	17: 34,246,411 (GRCm39)	D117A	probably benign	Het
Ifi206	A	T	1: 173,299,100 (GRCm39)	Y835*	probably null	Het
Ighv13-2	T	G	12: 114,321,544 (GRCm39)	E65A	probably damaging	Het
Kif5a	A	T	10: 127,071,537 (GRCm39)	Y770*	probably null	Het
Lfng	A	G	5: 140,593,384 (GRCm39)	S72G	probably benign	Het
Lipo2	C	T	19: 33,737,344 (GRCm39)		probably benign	Het
Lnpep	C	T	17: 17,783,109 (GRCm39)	S564N	probably benign	Het
Mfhas1	T	A	8: 36,057,025 (GRCm39)	L500*	probably null	Het
Mllt6	G	A	11: 97,561,142 (GRCm39)	V277I	probably benign	Het
Mroh5	C	T	15: 73,663,189 (GRCm39)	D192N	probably benign	Het
Myo1f	T	A	17: 33,795,672 (GRCm39)	V106D	probably damaging	Het
Mypn	T	A	10: 62,981,652 (GRCm39)	I643F	probably benign	Het
Nup188	A	G	2: 30,213,575 (GRCm39)	N669D	possibly damaging	Het
Or14j5	C	G	17: 38,161,714 (GRCm39)	T77R	probably damaging	Het
Or2r11	A	T	6: 42,437,573 (GRCm39)	C127S	probably damaging	Het
Or5g26	T	C	2: 85,494,689 (GRCm39)	T30A	probably benign	Het
Or8s8	T	C	15: 98,354,866 (GRCm39)	V225A	probably benign	Het
Osbpl10	A	G	9: 115,036,726 (GRCm39)	T241A	probably damaging	Het
Peg3	C	T	7: 6,711,839 (GRCm39)	E1128K	possibly damaging	Het
Plch1	C	A	3: 63,681,068 (GRCm39)	M186I	probably benign	Het
Pon3	A	C	6: 5,236,911 (GRCm39)	L152R	probably damaging	Het
Prr36	G	A	8: 4,263,905 (GRCm39)	P587L	unknown	Het
Psma2	T	A	13: 14,799,832 (GRCm39)	I192N	probably damaging	Het
Rbm11	T	C	16: 75,389,923 (GRCm39)	F30L	probably damaging	Het
Rpap3	G	A	15: 97,576,299 (GRCm39)	A622V	possibly damaging	Het
Scgb2b11	T	A	7: 31,908,807 (GRCm39)	N98Y	probably damaging	Het
Siglec1	A	G	2: 130,923,212 (GRCm39)	L511P	probably damaging	Het
Sirpb1c	C	T	3: 15,887,156 (GRCm39)	V228M	probably damaging	Het
Smpd4	T	A	16: 17,460,605 (GRCm39)	Y804N	probably damaging	Het
Sult6b2	T	C	6: 142,747,524 (GRCm39)	D75G	not run	Het
Sycp3	A	C	10: 88,302,368 (GRCm39)	K119N	probably damaging	Het
Syne2	T	C	12: 76,078,278 (GRCm39)	L4703P	probably damaging	Het
Tex12	C	G	9: 50,470,523 (GRCm39)	L20F	possibly damaging	Het
Them5	T	A	3: 94,250,603 (GRCm39)	Y55*	probably null	Het
Tmem43	A	T	6: 91,458,968 (GRCm39)	D213V	probably benign	Het
Tnfrsf10b	A	C	14: 70,005,239 (GRCm39)	Q44P	unknown	Het
Trbv2	A	T	6: 41,024,836 (GRCm39)	Q84L	probably benign	Het
Trim36	A	G	18: 46,305,558 (GRCm39)	V475A	probably benign	Het
Ttbk1	C	A	17: 46,758,269 (GRCm39)	E788D	probably benign	Het
Ttn	T	C	2: 76,543,626 (GRCm39)	D33120G	probably damaging	Het
Ttn	T	A	2: 76,576,256 (GRCm39)	N24879I	probably damaging	Het
Ube4a	T	A	9: 44,864,308 (GRCm39)	Q76L	probably benign	Het
Vmn2r27	T	A	6: 124,168,980 (GRCm39)	I717F	probably damaging	Het
Vmn2r45	T	C	7: 8,485,987 (GRCm39)	K434E	possibly damaging	Het
Vta1	T	C	10: 14,531,461 (GRCm39)	T305A	probably damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het

Other mutations in Trim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Trim2	APN	3	84,115,596 (GRCm39)	missense	probably damaging	1.00
IGL01658:Trim2	APN	3	84,117,592 (GRCm39)	missense	probably benign	0.33
IGL02943:Trim2	APN	3	84,085,483 (GRCm39)	missense	probably benign	0.45
PIT4142001:Trim2	UTSW	3	84,098,164 (GRCm39)	missense	probably benign	0.00
R0149:Trim2	UTSW	3	84,098,083 (GRCm39)	missense	probably damaging	1.00
R0158:Trim2	UTSW	3	84,117,476 (GRCm39)	splice site	probably benign
R0361:Trim2	UTSW	3	84,098,083 (GRCm39)	missense	probably damaging	1.00
R1270:Trim2	UTSW	3	84,074,984 (GRCm39)	missense	probably damaging	1.00
R1651:Trim2	UTSW	3	84,074,957 (GRCm39)	critical splice donor site	probably null
R1756:Trim2	UTSW	3	84,098,107 (GRCm39)	missense	possibly damaging	0.52
R1938:Trim2	UTSW	3	84,085,099 (GRCm39)	missense	possibly damaging	0.94
R2046:Trim2	UTSW	3	84,115,596 (GRCm39)	missense	probably damaging	1.00
R2192:Trim2	UTSW	3	84,098,225 (GRCm39)	nonsense	probably null
R3696:Trim2	UTSW	3	84,098,158 (GRCm39)	missense	probably benign	0.05
R4981:Trim2	UTSW	3	84,085,042 (GRCm39)	missense	probably damaging	1.00
R5389:Trim2	UTSW	3	84,074,960 (GRCm39)	missense	probably null	0.60
R5735:Trim2	UTSW	3	84,075,029 (GRCm39)	missense	probably damaging	1.00
R7228:Trim2	UTSW	3	84,099,488 (GRCm39)	missense	probably benign	0.01
R7297:Trim2	UTSW	3	84,117,540 (GRCm39)	missense	probably damaging	1.00
R7640:Trim2	UTSW	3	84,098,213 (GRCm39)	missense	probably benign	0.07
R7993:Trim2	UTSW	3	84,098,026 (GRCm39)	missense	probably damaging	1.00
R8205:Trim2	UTSW	3	84,100,646 (GRCm39)	missense	probably damaging	1.00
R8516:Trim2	UTSW	3	84,115,627 (GRCm39)	missense	probably damaging	1.00
R9056:Trim2	UTSW	3	84,080,128 (GRCm39)	missense	probably damaging	1.00
X0065:Trim2	UTSW	3	84,072,480 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGCAGCATTTCTTTCGGAAAAC -3'
(R):5'- TGCGGATCGTAACTTTCGG -3'

Sequencing Primer
(F):5'- TACTGTGCAGAAGAGCTAACCTGC -3'
(R):5'- GATCGTAACTTTCGGTGGAATATTC -3'

Posted On

2019-12-20