Mutagenetix > Incidental Mutation

Incidental Mutation 'R8713:Trim67'

669715

Institutional Source

Beutler Lab

Gene Symbol

Trim67

Ensembl Gene

ENSMUSG00000036913

Gene Name

tripartite motif-containing 67

Synonyms

D130049O21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R8713 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124793092-124834713 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124820335 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 495 (M495V)

Ref Sequence

ENSEMBL: ENSMUSP00000040601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041106] [ENSMUST00000167588] [ENSMUST00000211867]

AlphaFold

Q505D9

Predicted Effect

probably null
Transcript: ENSMUST00000041106
AA Change: M495V

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000040601
Gene: ENSMUSG00000036913
AA Change: M495V

Domain	Start	End	E-Value	Type
RING	7	157	1.41e-4	SMART
BBOX	198	248	4.65e-5	SMART
BBOX	285	327	3.04e-9	SMART
BBC	334	460	1.18e-28	SMART
FN3	498	579	1.75e-6	SMART
Pfam:SPRY	635	755	1.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167588
AA Change: M495V

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000130343
Gene: ENSMUSG00000036913
AA Change: M495V

Domain	Start	End	E-Value	Type
RING	7	157	1.41e-4	SMART
BBOX	198	248	4.65e-5	SMART
BBOX	285	327	3.04e-9	SMART
BBC	334	460	1.18e-28	SMART
FN3	498	579	1.75e-6	SMART
Pfam:SPRY	633	756	3.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211867
AA Change: M495V

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,873,174	A581V	possibly damaging	Het
Adam18	T	A	8: 24,652,173	M196L	probably benign	Het
Ankrd10	A	G	8: 11,628,491	S134P	probably damaging	Het
Ano8	C	T	8: 71,485,077	G47D	probably damaging	Het
Arl6ip4	T	C	5: 124,116,762	V4A	unknown	Het
Cabp4	C	T	19: 4,136,160	M247I	probably benign	Het
Ccdc30	A	T	4: 119,404,207	L11Q	probably damaging	Het
Cdkl4	A	G	17: 80,533,863	S288P	possibly damaging	Het
Celsr3	A	G	9: 108,829,863	I1182V	probably benign	Het
Dnah17	T	C	11: 118,088,202	D1788G	probably damaging	Het
Dsp	A	G	13: 38,168,725	D193G	probably damaging	Het
Dym	T	G	18: 75,056,738	Y132*	probably null	Het
Dync2h1	G	A	9: 7,141,008	Q1340*	probably null	Het
Elmo1	T	C	13: 20,274,621		probably benign	Het
Fbxw15	A	C	9: 109,555,599	F378V	possibly damaging	Het
Fsip2	G	A	2: 82,981,109	G2591R	probably damaging	Het
Gps2	C	A	11: 69,915,354	D148E	probably benign	Het
Iars2	T	C	1: 185,291,418	D772G	possibly damaging	Het
Ifit1	T	A	19: 34,647,638	L58Q	probably benign	Het
Kctd4	A	T	14: 75,962,926	Q112H	probably benign	Het
Letm1	A	G	5: 33,762,505	L230P	probably damaging	Het
Lrch4	G	T	5: 137,639,863	E136*	probably null	Het
Macc1	T	C	12: 119,443,526		probably benign	Het
Macrod1	T	C	19: 7,057,126	L79P	probably benign	Het
Map2	T	A	1: 66,414,622	N890K	probably damaging	Het
Mctp1	G	A	13: 76,641,803	S270N	probably benign	Het
Mrpl44	C	T	1: 79,777,991	R105C	probably damaging	Het
Mtg1	T	A	7: 140,137,775		probably null	Het
Mtg1	T	C	7: 140,140,223	F68L	probably benign	Het
Nfil3	A	G	13: 52,968,011	S286P	possibly damaging	Het
Nutm1	A	G	2: 112,251,322	V332A	possibly damaging	Het
Obscn	T	A	11: 59,135,966	Q137L	probably benign	Het
Pcnx2	T	G	8: 125,818,786	E1162A	probably damaging	Het
Pgr	A	G	9: 8,900,817	D117G	possibly damaging	Het
Plce1	T	C	19: 38,524,901	C215R	probably benign	Het
Rrm1	T	G	7: 102,460,351	Y461D	probably damaging	Het
Sbk3	C	T	7: 4,969,992	V60I	possibly damaging	Het
Scube1	G	T	15: 83,610,270	A852E	possibly damaging	Het
Sec24d	T	A	3: 123,343,892	I561N	probably damaging	Het
Slc16a4	T	C	3: 107,311,585	*501Q	probably null	Het
Slc6a19	C	A	13: 73,700,621	V5L	probably benign	Het
Spryd3	A	G	15: 102,133,485	I34T	possibly damaging	Het
Syne1	A	G	10: 5,316,040	L2191P	probably damaging	Het
Tbrg1	A	G	9: 37,652,659	C227R	probably damaging	Het
Tdrd6	A	G	17: 43,625,019	S1713P	probably benign	Het
Thap12	C	T	7: 98,707,076	L57F	probably benign	Het
Top1	G	A	2: 160,717,440	V628I	probably damaging	Het
Trio	A	C	15: 27,743,951		probably benign	Het
Vmn2r23	A	T	6: 123,703,032	Y71F		Het
Ywhah	A	G	5: 33,027,191	N246S	probably benign	Het
Zcwpw1	T	C	5: 137,799,532	I125T	probably benign	Het

Other mutations in Trim67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Trim67	APN	8	124815060	splice site	probably benign
IGL01676:Trim67	APN	8	124815160	missense	possibly damaging	0.51
IGL01779:Trim67	APN	8	124828121	missense	probably damaging	1.00
IGL02057:Trim67	APN	8	124823130	missense	probably benign	0.00
IGL02201:Trim67	APN	8	124794058	missense	probably benign	0.26
IGL02304:Trim67	APN	8	124825952	missense	probably damaging	1.00
R0068:Trim67	UTSW	8	124794568	missense	probably damaging	0.97
R0241:Trim67	UTSW	8	124823190	missense	probably damaging	0.99
R0319:Trim67	UTSW	8	124823227	missense	probably damaging	0.98
R0471:Trim67	UTSW	8	124794658	missense	probably benign	0.01
R1171:Trim67	UTSW	8	124829081	missense	probably damaging	0.97
R1175:Trim67	UTSW	8	124817035	missense	probably damaging	0.99
R1444:Trim67	UTSW	8	124823193	missense	probably benign	0.01
R1596:Trim67	UTSW	8	124826139	missense	probably damaging	0.97
R1706:Trim67	UTSW	8	124794421	missense	probably damaging	1.00
R4951:Trim67	UTSW	8	124794667	missense	probably benign
R5200:Trim67	UTSW	8	124824850	missense	probably damaging	0.99
R5787:Trim67	UTSW	8	124794312	nonsense	probably null
R6023:Trim67	UTSW	8	124815104	missense	probably damaging	0.99
R6290:Trim67	UTSW	8	124823179	missense	probably benign	0.00
R6536:Trim67	UTSW	8	124794342	missense	possibly damaging	0.51
R7315:Trim67	UTSW	8	124794330	missense	probably benign	0.18
R7660:Trim67	UTSW	8	124820285	missense	probably damaging	1.00
R8432:Trim67	UTSW	8	124794062	small deletion	probably benign
R8446:Trim67	UTSW	8	124793991	missense	probably damaging	0.99
R8897:Trim67	UTSW	8	124825979	missense	probably benign
R9322:Trim67	UTSW	8	124823228	nonsense	probably null
R9430:Trim67	UTSW	8	124826217	missense	probably damaging	0.98
R9542:Trim67	UTSW	8	124794758	missense	possibly damaging	0.84
Z1088:Trim67	UTSW	8	124817041	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGGCTGGCAGCTCTTCATC -3'
(R):5'- CCTTGGGTCTTTGAAAGGCAG -3'

Sequencing Primer
(F):5'- TGCAGACCCAACCCTTCTG -3'
(R):5'- GTCTTTGAAAGGCAGCTCAAGTTC -3'

Posted On

2021-04-30