Mutagenetix > Incidental Mutation

Incidental Mutation 'R6356:Trim8'

513042

Institutional Source

Beutler Lab

Gene Symbol

Trim8

Ensembl Gene

ENSMUSG00000025034

Gene Name

tripartite motif-containing 8

Synonyms

GERP, Rnf27

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46490087-46504894 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 46503797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 450 (S450A)

Ref Sequence

ENSEMBL: ENSMUSP00000026008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026008]

AlphaFold

Q99PJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000026008
AA Change: S450A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000026008
Gene: ENSMUSG00000025034
AA Change: S450A

Domain	Start	End	E-Value	Type
RING	15	55	3.05e-9	SMART
coiled coil region	181	245	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,161,292 (GRCm39)	S152T	probably benign	Het
Aass	A	G	6: 23,093,901 (GRCm39)	V140A	probably damaging	Het
Add1	A	G	5: 34,776,740 (GRCm39)	N32S	probably null	Het
Agap2	T	C	10: 126,918,865 (GRCm39)	S414P	unknown	Het
Arhgef38	A	G	3: 132,846,638 (GRCm39)	F376L	probably benign	Het
Cd22	A	T	7: 30,577,127 (GRCm39)	I60N	probably damaging	Het
Cdh23	T	A	10: 60,274,626 (GRCm39)	D488V	probably damaging	Het
Cfap251	G	A	5: 123,392,729 (GRCm39)		probably benign	Het
Cox16	T	G	12: 81,519,115 (GRCm39)	D148A	probably damaging	Het
Dclre1b	G	A	3: 103,715,471 (GRCm39)	T9I	probably damaging	Het
Dennd4c	T	C	4: 86,743,686 (GRCm39)	V1176A	probably benign	Het
Echdc1	A	C	10: 29,220,522 (GRCm39)		probably null	Het
Efcab3	A	G	11: 104,784,533 (GRCm39)	K2772E	probably benign	Het
Efnb3	G	A	11: 69,446,966 (GRCm39)	A248V	probably benign	Het
Glud1	A	G	14: 34,033,173 (GRCm39)	R107G	probably benign	Het
Gtf2h4	A	G	17: 35,980,647 (GRCm39)	S279P	probably damaging	Het
Hectd1	A	G	12: 51,791,402 (GRCm39)	C2579R	probably damaging	Het
Igkv15-103	A	G	6: 68,414,441 (GRCm39)		probably benign	Het
Ivl	CCTGCTGCTGCTGCT	CCTGCTGCTGCT	3: 92,479,217 (GRCm39)		probably benign	Het
Krtap5-2	T	C	7: 141,729,119 (GRCm39)		probably benign	Het
Lcn11	G	T	2: 25,668,132 (GRCm39)	G97*	probably null	Het
Lrrtm3	G	A	10: 63,765,943 (GRCm39)	T548M	probably benign	Het
Map3k2	A	T	18: 32,345,023 (GRCm39)	T283S	probably damaging	Het
Mast4	T	C	13: 102,872,493 (GRCm39)	K2292E	possibly damaging	Het
Med23	G	T	10: 24,764,311 (GRCm39)	C98F	probably damaging	Het
Morc1	T	A	16: 48,257,652 (GRCm39)	F26Y	probably damaging	Het
Muc5ac	T	A	7: 141,366,416 (GRCm39)	M2160K	probably benign	Het
Myocd	T	C	11: 65,109,396 (GRCm39)		probably null	Het
Nup160	T	A	2: 90,542,279 (GRCm39)		probably null	Het
Obi1	A	G	14: 104,716,313 (GRCm39)	S687P	probably damaging	Het
Olr1	A	T	6: 129,470,522 (GRCm39)	L215Q	probably benign	Het
Or5ak23	T	A	2: 85,245,031 (GRCm39)	Q64L	probably damaging	Het
Or6c216	T	A	10: 129,678,477 (GRCm39)	S145C	probably benign	Het
Pik3c2a	T	C	7: 115,947,440 (GRCm39)	K1414R	possibly damaging	Het
Ppfibp2	T	C	7: 107,280,976 (GRCm39)	V96A	probably benign	Het
Prim1	T	A	10: 127,859,704 (GRCm39)	Y299N	probably damaging	Het
Rsf1	T	C	7: 97,311,141 (GRCm39)	S624P	probably benign	Het
Samd4b	A	T	7: 28,101,018 (GRCm39)	I687N	probably damaging	Het
Sbf2	A	T	7: 109,971,830 (GRCm39)	F801L	probably damaging	Het
St6gal2	T	C	17: 55,789,014 (GRCm39)	I16T	probably damaging	Het
Tiam2	CGGG	CGGGG	17: 3,464,897 (GRCm39)		probably null	Het
Trp53bp2	A	G	1: 182,276,562 (GRCm39)	T848A	probably benign	Het
Vmn2r24	A	G	6: 123,783,368 (GRCm39)	S523G	possibly damaging	Het
Vmn2r52	T	A	7: 9,902,926 (GRCm39)	M501L	probably benign	Het
Vmn2r68	C	T	7: 84,883,048 (GRCm39)	V235M	possibly damaging	Het
Zfhx3	G	A	8: 109,673,251 (GRCm39)	V1434M	probably damaging	Het
Zmym5	A	T	14: 57,031,622 (GRCm39)	N495K	possibly damaging	Het

Other mutations in Trim8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02604:Trim8	APN	19	46,503,917 (GRCm39)	missense	probably damaging	1.00
R0681:Trim8	UTSW	19	46,503,532 (GRCm39)	missense	possibly damaging	0.68
R0732:Trim8	UTSW	19	46,503,178 (GRCm39)	critical splice donor site	probably null
R2509:Trim8	UTSW	19	46,503,734 (GRCm39)	missense	probably benign	0.01
R4945:Trim8	UTSW	19	46,491,214 (GRCm39)	missense	probably benign	0.04
R5855:Trim8	UTSW	19	46,503,849 (GRCm39)	missense	possibly damaging	0.69
R6167:Trim8	UTSW	19	46,503,626 (GRCm39)	missense	probably benign	0.00
R6414:Trim8	UTSW	19	46,491,346 (GRCm39)	missense	probably benign	0.21
R7793:Trim8	UTSW	19	46,504,053 (GRCm39)	missense	probably damaging	1.00
R8252:Trim8	UTSW	19	46,504,059 (GRCm39)	missense	probably damaging	1.00
R8973:Trim8	UTSW	19	46,503,903 (GRCm39)	missense	possibly damaging	0.69
R9391:Trim8	UTSW	19	46,503,955 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCCTGGAGACTTCGTCAGG -3'
(R):5'- CTGTAGAAATCCTGGTGGCC -3'

Sequencing Primer
(F):5'- AGACTTCGTCAGGCCCAGTG -3'
(R):5'- AGGCTGCTGAGAAGCGTC -3'

Posted On

2018-04-27