Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02604:Trim8'

300165

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02604

Quality Score

Status

Chromosome

Chromosomal Location

46490087-46504894 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46503917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 490 (S490P)

Ref Sequence

ENSEMBL: ENSMUSP00000026008 (fasta)

Gene Model

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

AlphaFold

Q99PJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000026008
AA Change: S490P

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

SMART Domains

Protein: ENSMUSP00000026008
Gene: ENSMUSG00000025034
AA Change: S490P

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

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,878,845 (GRCm39)	V61A	probably benign	Het
Arfgef1	G	A	1: 10,251,275 (GRCm39)		probably benign	Het
Arhgef4	T	A	1: 34,850,804 (GRCm39)	L594*	probably null	Het
Cacna2d3	T	C	14: 29,015,066 (GRCm39)	T375A	possibly damaging	Het
Calb2	A	C	8: 110,875,160 (GRCm39)	Y155D	probably damaging	Het
Camkmt	A	G	17: 85,404,053 (GRCm39)	T92A	possibly damaging	Het
Cfap91	A	G	16: 38,141,921 (GRCm39)		probably benign	Het
Chsy3	A	G	18: 59,542,187 (GRCm39)	S442G	probably benign	Het
Cyp4f13	T	C	17: 33,151,395 (GRCm39)	I173V	probably benign	Het
Dapk1	A	G	13: 60,896,134 (GRCm39)	T741A	probably benign	Het
Dennd3	T	C	15: 73,428,252 (GRCm39)	I866T	probably damaging	Het
Dhrs2	A	T	14: 55,474,778 (GRCm39)	I138F	possibly damaging	Het
Dscaml1	C	T	9: 45,655,626 (GRCm39)		probably benign	Het
Fsbp	A	G	4: 11,584,147 (GRCm39)	E282G	probably damaging	Het
Hpgds	A	T	6: 65,100,594 (GRCm39)	L128Q	probably damaging	Het
Hspa9	A	G	18: 35,087,266 (GRCm39)	V13A	unknown	Het
Itgb3	A	G	11: 104,553,269 (GRCm39)	E709G	probably damaging	Het
Jarid2	T	C	13: 45,027,877 (GRCm39)	S148P	probably damaging	Het
Kcna6	C	T	6: 126,716,167 (GRCm39)	G241R	probably benign	Het
Kdm5a	T	A	6: 120,408,941 (GRCm39)	N1541K	probably benign	Het
Kel	C	A	6: 41,664,516 (GRCm39)	E640D	probably damaging	Het
Lcp1	A	T	14: 75,461,566 (GRCm39)	I520F	probably benign	Het
Lgr4	A	G	2: 109,841,658 (GRCm39)	I524V	probably damaging	Het
Mup20	A	C	4: 61,970,141 (GRCm39)	Y139D	probably damaging	Het
Notch4	T	C	17: 34,784,362 (GRCm39)		probably null	Het
Obox7	A	G	7: 14,399,293 (GRCm39)	E173G	probably benign	Het
Or10a49	T	A	7: 108,467,857 (GRCm39)	Y168F	probably benign	Het
Or2a25	T	A	6: 42,888,992 (GRCm39)	C178*	probably null	Het
Or5w22	A	T	2: 87,362,949 (GRCm39)	T191S	probably damaging	Het
Or8b40	C	T	9: 38,027,148 (GRCm39)	Q19*	probably null	Het
Or9i1	T	A	19: 13,839,170 (GRCm39)	N4K	probably benign	Het
Patl2	T	G	2: 121,955,814 (GRCm39)	T241P	possibly damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plekhg6	T	C	6: 125,354,342 (GRCm39)		probably benign	Het
Pon1	C	A	6: 5,168,375 (GRCm39)	G344V	probably damaging	Het
Ppp1r21	G	T	17: 88,880,171 (GRCm39)	K529N	probably benign	Het
Prdm15	A	G	16: 97,623,142 (GRCm39)	S203P	probably benign	Het
Psmc2	T	A	5: 22,000,098 (GRCm39)		probably null	Het
Ptn	T	C	6: 36,692,653 (GRCm39)	M166V	unknown	Het
Ptpn13	A	G	5: 103,649,769 (GRCm39)	N391D	probably benign	Het
Rnf214	A	G	9: 45,780,841 (GRCm39)	S383P	probably damaging	Het
Rufy4	T	A	1: 74,173,348 (GRCm39)	L438H	probably damaging	Het
Scarf2	A	G	16: 17,621,608 (GRCm39)	T353A	probably damaging	Het
Serpinb9e	A	C	13: 33,441,742 (GRCm39)	I225L	probably benign	Het
Slc25a40	T	C	5: 8,503,219 (GRCm39)	V312A	probably benign	Het
Tmc3	A	G	7: 83,271,827 (GRCm39)	Y993C	possibly damaging	Het
Trim56	A	C	5: 137,141,930 (GRCm39)	C529G	probably damaging	Het
Trmt6	A	T	2: 132,652,357 (GRCm39)	Y147*	probably null	Het
Vmn2r109	T	A	17: 20,760,963 (GRCm39)	H798L	probably damaging	Het
Vps35	A	G	8: 86,013,018 (GRCm39)	L153P	probably damaging	Het
Wdr82	T	C	9: 106,060,880 (GRCm39)	I131T	probably damaging	Het
Zfp69	A	T	4: 120,788,660 (GRCm39)	D218E	probably benign	Het

Other mutations in Trim8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6356:Trim8	UTSW	19	46,503,797 (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

Posted On

2015-04-16