Mutagenetix > Incidental Mutation

Incidental Mutation 'R7147:Trim6'

553874

Institutional Source

Beutler Lab

Gene Symbol

Trim6

Ensembl Gene

ENSMUSG00000072244

Gene Name

tripartite motif-containing 6

Synonyms

D7Ertd684e, C430046K18Rik

MMRRC Submission

045224-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R7147 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103868002-103884359 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103874777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 5 (V5I)

Ref Sequence

ENSEMBL: ENSMUSP00000095782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098180] [ENSMUST00000128493] [ENSMUST00000144455] [ENSMUST00000153324] [ENSMUST00000214578]

AlphaFold

Q8BGE7

Predicted Effect

probably benign
Transcript: ENSMUST00000098180
AA Change: V5I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095782
Gene: ENSMUSG00000072244
AA Change: V5I

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

probably benign
Transcript: ENSMUST00000128493
AA Change: V5I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000118859
Gene: ENSMUSG00000072244
AA Change: V5I

Domain	Start	End	E-Value	Type
RING	15	59	8.16e-10	SMART
Pfam:zf-B_box	93	125	1.5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144455
AA Change: V5I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116233
Gene: ENSMUSG00000072244
AA Change: V5I

Domain	Start	End	E-Value	Type
RING	15	59	8.16e-10	SMART
Blast:BBOX	92	113	6e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000153324
AA Change: V5I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000119932
Gene: ENSMUSG00000072244
AA Change: V5I

Domain	Start	End	E-Value	Type
RING	15	59	8.16e-10	SMART
BBOX	92	133	8.87e-11	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214578
AA Change: V5I

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	C	T	14: 56,017,182 (GRCm39)	G303D	probably damaging	Het
Adgra3	C	T	5: 50,118,587 (GRCm39)	G987D	probably damaging	Het
Akap11	A	G	14: 78,748,905 (GRCm39)	S1161P		Het
Ampd3	G	A	7: 110,404,059 (GRCm39)	E528K	probably damaging	Het
Arl8b	G	A	6: 108,791,976 (GRCm39)	R79Q	probably damaging	Het
Atf4	AAGCGGGCTGAGC	AAGC	15: 80,141,500 (GRCm39)		probably benign	Het
Cald1	A	T	6: 34,723,231 (GRCm39)	Q105L		Het
Casd1	T	C	6: 4,624,187 (GRCm39)	Y327H	probably benign	Het
Chodl	T	A	16: 78,743,629 (GRCm39)	C239S	probably damaging	Het
D130043K22Rik	A	T	13: 25,066,546 (GRCm39)	H781L	probably benign	Het
Dlg1	A	T	16: 31,610,672 (GRCm39)	M318L	probably benign	Het
Dlgap1	T	C	17: 70,969,753 (GRCm39)	S520P	probably benign	Het
Dmxl2	T	C	9: 54,324,013 (GRCm39)	I950V	probably benign	Het
Dnah17	T	A	11: 117,985,755 (GRCm39)	T1441S	probably benign	Het
Dock7	A	T	4: 98,849,654 (GRCm39)	N1638K	unknown	Het
Ect2	A	T	3: 27,204,239 (GRCm39)	D23E	probably benign	Het
Ephx1	T	A	1: 180,829,384 (GRCm39)	T55S	probably damaging	Het
F11	T	C	8: 45,703,183 (GRCm39)	Y169C	probably damaging	Het
Fbxw27	A	G	9: 109,618,391 (GRCm39)		probably null	Het
Fhl5	T	A	4: 25,213,777 (GRCm39)		probably null	Het
Gm5145	G	A	17: 20,791,323 (GRCm39)	E234K	probably damaging	Het
Gpr39	G	A	1: 125,800,238 (GRCm39)	D330N	possibly damaging	Het
Greb1	C	T	12: 16,783,428 (GRCm39)	R102H	probably damaging	Het
H4c17	A	G	13: 21,996,159 (GRCm39)	D69G	probably damaging	Het
Ighmbp2	T	C	19: 3,321,676 (GRCm39)	K361R	probably benign	Het
Inpp4b	A	G	8: 82,629,400 (GRCm39)	D245G	probably damaging	Het
Ints14	T	C	9: 64,891,267 (GRCm39)	V416A	possibly damaging	Het
Kif21a	A	G	15: 90,865,086 (GRCm39)	S529P	probably benign	Het
Limk1	A	G	5: 134,686,195 (GRCm39)	M609T	probably benign	Het
Lrrc75a	G	A	11: 62,496,795 (GRCm39)	P256S	probably damaging	Het
Mcc	T	C	18: 44,626,580 (GRCm39)	R339G	probably damaging	Het
Mdga1	C	T	17: 30,065,495 (GRCm39)	W371*	probably null	Het
Mei4	T	A	9: 81,809,649 (GRCm39)	L244Q	probably damaging	Het
Mical2	C	T	7: 111,922,810 (GRCm39)	P605L	possibly damaging	Het
Mrgprf	G	T	7: 144,862,128 (GRCm39)	R230L	possibly damaging	Het
Nlgn1	T	A	3: 26,187,509 (GRCm39)	R125S	probably benign	Het
Or52h7	A	G	7: 104,213,273 (GRCm39)		probably benign	Het
Papola	A	T	12: 105,774,897 (GRCm39)		probably benign	Het
Pold2	T	C	11: 5,823,095 (GRCm39)	D360G	probably benign	Het
Prr12	T	C	7: 44,683,274 (GRCm39)	R1797G	unknown	Het
Psmg2	C	T	18: 67,786,338 (GRCm39)	P233S	probably benign	Het
Ptprh	A	G	7: 4,553,781 (GRCm39)	W857R	probably damaging	Het
Raet1e	A	T	10: 22,057,179 (GRCm39)	M168L	probably benign	Het
Rhbdl2	A	T	4: 123,703,908 (GRCm39)	Y61F	probably damaging	Het
Sacm1l	A	G	9: 123,398,016 (GRCm39)	N236S	probably damaging	Het
Sbf2	A	T	7: 110,046,268 (GRCm39)	S310T	probably benign	Het
Sdr42e2	A	T	7: 120,412,238 (GRCm39)	R33S	probably damaging	Het
Sh3d19	T	A	3: 86,011,584 (GRCm39)	I390N	possibly damaging	Het
Slco3a1	A	G	7: 74,154,042 (GRCm39)	Y177H	probably damaging	Het
Smo	G	A	6: 29,758,448 (GRCm39)	G531D	possibly damaging	Het
Snx25	A	C	8: 46,558,233 (GRCm39)	V258G	probably damaging	Het
Spata31d1b	T	A	13: 59,866,028 (GRCm39)	S1059T	probably benign	Het
Srgap2	C	T	1: 131,238,332 (GRCm39)	C274Y		Het
Srrm1	A	G	4: 135,074,137 (GRCm39)	I48T	probably damaging	Het
Syne1	A	T	10: 5,199,340 (GRCm39)	V3719E	probably damaging	Het
Tcerg1	T	A	18: 42,683,128 (GRCm39)	M616K	probably benign	Het
Tgtp2	G	C	11: 48,950,135 (GRCm39)	R146G	probably damaging	Het
Tie1	A	T	4: 118,341,610 (GRCm39)	V234D	probably damaging	Het
Tom1	A	G	8: 75,783,895 (GRCm39)	N293S	probably damaging	Het
Trim13	A	T	14: 61,842,080 (GRCm39)	K32N	probably damaging	Het
Vps11	A	T	9: 44,266,379 (GRCm39)	L436*	probably null	Het
Vps50	C	T	6: 3,567,750 (GRCm39)	Q549*	probably null	Het
Vtcn1	T	A	3: 100,791,210 (GRCm39)	F83I	probably damaging	Het
Zfp131	T	C	13: 120,228,079 (GRCm39)	T523A	probably benign	Het
Zfp758	A	T	17: 22,594,981 (GRCm39)	Y489F	possibly damaging	Het
Zfp804a	T	C	2: 82,088,531 (GRCm39)	Y787H	probably benign	Het
Zfp9	C	T	6: 118,441,963 (GRCm39)	C233Y	probably damaging	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
IGL02493:Trim6	APN	7	103,881,847 (GRCm39)	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- CAAGCTGGTGTTAGATGTGAGC -3'
(R):5'- CTGAGCCTCTTCACTATGGC -3'

Sequencing Primer
(F):5'- GCTGAGGTAAAGTGTTGGAGC -3'
(R):5'- TTCCCAGGCTGATAGGAGGTC -3'

Posted On

2019-05-15