Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02493:Trim6'

295730

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim6

Ensembl Gene

ENSMUSG00000072244

Gene Name

tripartite motif-containing 6

Synonyms

D7Ertd684e, C430046K18Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

IGL02493

Quality Score

Status

Chromosome

Chromosomal Location

103868002-103884359 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103881847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 366 (Y366C)

Ref Sequence

ENSEMBL: ENSMUSP00000149805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098180] [ENSMUST00000214578]

AlphaFold

Q8BGE7

Predicted Effect

probably benign
Transcript: ENSMUST00000098180
AA Change: Y392C

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

SMART Domains

Protein: ENSMUSP00000095782
Gene: ENSMUSG00000072244
AA Change: Y392C

Domain	Start	End	E-Value	Type
RING	15	59	8.16e-10	SMART
BBOX	92	133	8.87e-11	SMART
low complexity region	194	211	N/A	INTRINSIC
PRY	300	351	5.31e-9	SMART
Pfam:SPRY	354	482	9.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144538

Predicted Effect

probably benign
Transcript: ENSMUST00000214578
AA Change: Y366C

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

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, B-box type 1 and B-box type 2 domain, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from this gene into the downstream TRIM34 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	G	15: 59,888,312 (GRCm39)	S43R	probably benign	Het
Afap1l1	G	T	18: 61,870,594 (GRCm39)	Q595K	possibly damaging	Het
Alpk2	T	C	18: 65,483,402 (GRCm39)	E202G	probably benign	Het
Ap3b1	T	C	13: 94,540,528 (GRCm39)	V150A	probably damaging	Het
Bcas3	T	C	11: 85,386,708 (GRCm39)	I381T	probably damaging	Het
Best3	A	T	10: 116,860,506 (GRCm39)	R589W	possibly damaging	Het
Birc6	A	G	17: 74,959,054 (GRCm39)		probably benign	Het
Clcn4	A	C	7: 7,287,243 (GRCm39)	D728E	probably damaging	Het
Commd2	C	A	3: 57,559,080 (GRCm39)		probably benign	Het
Csrp1	T	A	1: 135,678,801 (GRCm39)	F175L	probably damaging	Het
Eif3c	A	T	7: 126,158,073 (GRCm39)	N294K	probably damaging	Het
Fam184a	A	G	10: 53,570,789 (GRCm39)		probably null	Het
Fndc1	G	T	17: 7,994,377 (GRCm39)	P297Q	unknown	Het
Galnt13	A	G	2: 54,770,149 (GRCm39)	I314V	probably benign	Het
Gimap6	T	A	6: 48,679,603 (GRCm39)	K144N	probably damaging	Het
Gm10188	A	T	1: 132,157,143 (GRCm39)	C74*	probably null	Het
Gpatch2	C	T	1: 186,965,325 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,464,515 (GRCm39)	M39K	probably damaging	Het
Has2	G	T	15: 56,531,320 (GRCm39)	T465K	probably damaging	Het
Homer3	T	A	8: 70,742,721 (GRCm39)	V144D	probably benign	Het
Ift140	A	T	17: 25,306,898 (GRCm39)	K878*	probably null	Het
Ikbip	A	G	10: 90,932,456 (GRCm39)	N367D	probably damaging	Het
Immt	T	C	6: 71,821,700 (GRCm39)		probably benign	Het
Isca1	A	G	13: 59,910,596 (GRCm39)	V32A	possibly damaging	Het
Kcnu1	T	A	8: 26,427,548 (GRCm39)	N288K	possibly damaging	Het
Kmt2b	C	T	7: 30,268,936 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,106,127 (GRCm39)	D717E	probably benign	Het
Lrp1	C	T	10: 127,417,647 (GRCm39)	G1037E	probably damaging	Het
Man2a2	T	A	7: 80,019,363 (GRCm39)	Q37L	possibly damaging	Het
Msh4	C	T	3: 153,583,545 (GRCm39)		probably null	Het
Mtf1	C	T	4: 124,715,112 (GRCm39)	R246W	probably damaging	Het
Mvb12b	A	G	2: 33,730,221 (GRCm39)	S57P	probably benign	Het
Nat8f5	A	G	6: 85,794,544 (GRCm39)	F139L	probably benign	Het
Npepps	A	G	11: 97,128,985 (GRCm39)	F400L	probably damaging	Het
Ntsr2	T	A	12: 16,708,390 (GRCm39)	S248T	possibly damaging	Het
Oplah	G	A	15: 76,185,155 (GRCm39)	R853*	probably null	Het
Or5b98	T	C	19: 12,931,138 (GRCm39)	F62L	probably benign	Het
Or5p57	A	T	7: 107,665,012 (GRCm39)	M331K	possibly damaging	Het
Plekhh2	G	A	17: 84,914,391 (GRCm39)		probably null	Het
Pskh1	G	A	8: 106,656,388 (GRCm39)	V355I	probably benign	Het
Rab31	A	T	17: 66,024,547 (GRCm39)	M44K	possibly damaging	Het
Slc5a4b	A	G	10: 75,910,849 (GRCm39)	V329A	probably damaging	Het
Slc5a7	A	G	17: 54,600,908 (GRCm39)	Y76H	probably damaging	Het
Trappc14	T	C	5: 138,261,432 (GRCm39)		probably null	Het
Treh	A	T	9: 44,594,246 (GRCm39)	D164V	possibly damaging	Het
Ubr7	T	C	12: 102,734,479 (GRCm39)	V251A	probably benign	Het
Vmn1r35	T	A	6: 66,656,463 (GRCm39)	N69I	possibly damaging	Het
Zan	A	G	5: 137,433,968 (GRCm39)	L2255P	unknown	Het

Other mutations in Trim6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00828:Trim6	APN	7	103,879,950 (GRCm39)	missense	probably benign	0.00
IGL02517:Trim6	APN	7	103,881,564 (GRCm39)	splice site	probably benign
R0026:Trim6	UTSW	7	103,875,016 (GRCm39)	splice site	probably null
R1505:Trim6	UTSW	7	103,881,771 (GRCm39)	missense	probably damaging	1.00
R1711:Trim6	UTSW	7	103,882,044 (GRCm39)	missense	probably damaging	1.00
R2507:Trim6	UTSW	7	103,877,392 (GRCm39)	missense	probably damaging	1.00
R3919:Trim6	UTSW	7	103,882,057 (GRCm39)	missense	probably damaging	1.00
R4731:Trim6	UTSW	7	103,881,855 (GRCm39)	missense	probably damaging	1.00
R4732:Trim6	UTSW	7	103,881,855 (GRCm39)	missense	probably damaging	1.00
R4733:Trim6	UTSW	7	103,881,855 (GRCm39)	missense	probably damaging	1.00
R4858:Trim6	UTSW	7	103,881,692 (GRCm39)	nonsense	probably null
R5120:Trim6	UTSW	7	103,877,447 (GRCm39)	missense	probably damaging	1.00
R7147:Trim6	UTSW	7	103,874,777 (GRCm39)	missense	probably benign	0.00
R7372:Trim6	UTSW	7	103,881,843 (GRCm39)	missense	probably benign	0.04
R7407:Trim6	UTSW	7	103,875,108 (GRCm39)	missense	probably damaging	1.00
R7526:Trim6	UTSW	7	103,882,039 (GRCm39)	missense	probably damaging	1.00
R7657:Trim6	UTSW	7	103,881,068 (GRCm39)	missense	possibly damaging	0.79
R8444:Trim6	UTSW	7	103,881,879 (GRCm39)	missense	probably damaging	1.00
R8783:Trim6	UTSW	7	103,874,853 (GRCm39)	missense	probably damaging	1.00
R8925:Trim6	UTSW	7	103,881,655 (GRCm39)	missense	probably benign	0.00
R8927:Trim6	UTSW	7	103,881,655 (GRCm39)	missense	probably benign	0.00
R9031:Trim6	UTSW	7	103,875,159 (GRCm39)	missense	probably damaging	1.00
R9284:Trim6	UTSW	7	103,882,116 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16