Mutagenetix > Incidental Mutation

Incidental Mutation 'R0241:Trim67'

59494

Institutional Source

Beutler Lab

Gene Symbol

Trim67

Ensembl Gene

ENSMUSG00000036913

Gene Name

tripartite motif-containing 67

Synonyms

D130049O21Rik

MMRRC Submission

038479-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R0241 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

125519831-125561452 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125549929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 520 (R520G)

Ref Sequence

ENSEMBL: ENSMUSP00000148625 (fasta)

Gene Model

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

AlphaFold

Q505D9

Predicted Effect

probably damaging
Transcript: ENSMUST00000041106
AA Change: R520G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040601
Gene: ENSMUSG00000036913
AA Change: R520G

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 damaging
Transcript: ENSMUST00000167588
AA Change: R520G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130343
Gene: ENSMUSG00000036913
AA Change: R520G

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 damaging
Transcript: ENSMUST00000211867
AA Change: R520G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.1805

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	T	A	6: 39,560,752 (GRCm39)	V380E	probably benign	Het
Anapc1	A	T	2: 128,470,549 (GRCm39)	M1527K	possibly damaging	Het
Arfgef3	T	A	10: 18,474,962 (GRCm39)	I1575F	probably damaging	Het
Atp4a	G	T	7: 30,416,560 (GRCm39)	G446C	probably benign	Het
Bicra	A	T	7: 15,709,070 (GRCm39)	M1188K	probably damaging	Het
Brd7	G	A	8: 89,072,478 (GRCm39)	R331W	probably benign	Het
Cactin	A	G	10: 81,158,486 (GRCm39)	T151A	probably benign	Het
Cadps	G	A	14: 12,376,675 (GRCm38)	T1274M	probably damaging	Het
Catsper3	T	C	13: 55,952,667 (GRCm39)	M175T	probably damaging	Het
Chd5	A	G	4: 152,450,589 (GRCm39)	D605G	probably damaging	Het
Chst12	G	A	5: 140,510,054 (GRCm39)	R227H	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cimap1d	C	T	10: 79,480,564 (GRCm39)		probably null	Het
Cobl	A	T	11: 12,204,524 (GRCm39)	V644E	probably benign	Het
Ddx31	A	G	2: 28,738,303 (GRCm39)	T155A	probably damaging	Het
Dnah3	T	C	7: 119,521,953 (GRCm39)	Q4069R	probably damaging	Het
Dnah8	T	C	17: 30,984,653 (GRCm39)	I3117T	probably damaging	Het
Doc2b	A	G	11: 75,663,387 (GRCm39)	V355A	probably damaging	Het
Dock10	A	T	1: 80,556,340 (GRCm39)	S578T	probably benign	Het
Duox1	T	C	2: 122,163,878 (GRCm39)		probably benign	Het
Epb41l5	T	C	1: 119,495,509 (GRCm39)		probably null	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fcer2a	A	G	8: 3,738,796 (GRCm39)		probably null	Het
Fmnl1	G	A	11: 103,072,996 (GRCm39)		probably null	Het
Fry	A	T	5: 150,183,811 (GRCm39)		probably benign	Het
Git2	T	C	5: 114,871,290 (GRCm39)	E208G	probably damaging	Het
Hs6st3	T	C	14: 119,376,232 (GRCm39)	F136L	probably benign	Het
Hydin	G	A	8: 111,124,655 (GRCm39)	V555I	probably benign	Het
Kcns1	A	T	2: 164,010,300 (GRCm39)	I153N	probably damaging	Het
Kmt2b	A	G	7: 30,276,494 (GRCm39)	L1726S	probably damaging	Het
Loxl3	A	G	6: 83,027,114 (GRCm39)	D615G	probably damaging	Het
Negr1	T	A	3: 156,914,036 (GRCm39)		probably benign	Het
Nfasc	C	A	1: 132,564,731 (GRCm39)	A70S	probably benign	Het
Or4d1	T	A	11: 87,804,860 (GRCm39)	N291Y	probably damaging	Het
Or4p21	A	T	2: 88,276,889 (GRCm39)	M131K	possibly damaging	Het
Or52n4	A	G	7: 104,294,450 (GRCm39)	M41T	probably benign	Het
Or5g29	A	G	2: 85,421,154 (GRCm39)	K90R	probably benign	Het
Otud7a	T	C	7: 63,346,992 (GRCm39)		probably benign	Het
Pacs2	T	C	12: 113,032,890 (GRCm39)		probably benign	Het
Pde7b	A	G	10: 20,311,962 (GRCm39)	C239R	probably damaging	Het
Pdzd2	A	T	15: 12,368,027 (GRCm39)	L2654Q	probably damaging	Het
Pgap1	T	C	1: 54,575,110 (GRCm39)		probably null	Het
Proz	T	A	8: 13,115,356 (GRCm39)	M124K	probably benign	Het
Raet1d	A	G	10: 22,247,328 (GRCm39)	T135A	probably benign	Het
Rapgef1	A	G	2: 29,592,682 (GRCm39)	N558S	possibly damaging	Het
Rpl7	C	G	1: 16,173,446 (GRCm39)	G101A	possibly damaging	Het
Sec14l1	G	A	11: 117,037,924 (GRCm39)		probably benign	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Simc1	G	T	13: 54,698,338 (GRCm39)	L1319F	probably damaging	Het
Sspo	A	G	6: 48,438,429 (GRCm39)	E1499G	possibly damaging	Het
Tango6	C	T	8: 107,473,993 (GRCm39)		probably benign	Het
Tas2r118	T	C	6: 23,969,338 (GRCm39)	Y241C	probably damaging	Het
Tbck	A	G	3: 132,430,636 (GRCm39)	E344G	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Thop1	T	A	10: 80,916,079 (GRCm39)		probably benign	Het
Tmbim7	A	T	5: 3,716,866 (GRCm39)	Y66F	probably benign	Het
Tmc8	C	T	11: 117,677,207 (GRCm39)		probably benign	Het
Tnfrsf19	A	G	14: 61,211,041 (GRCm39)	S216P	possibly damaging	Het
Trappc2l	A	G	8: 123,341,132 (GRCm39)		probably benign	Het
Ubp1	T	A	9: 113,795,655 (GRCm39)		probably null	Het
Vil1	T	C	1: 74,465,853 (GRCm39)	L548P	probably damaging	Het
Wdr3	A	G	3: 100,052,973 (GRCm39)	V593A	probably damaging	Het
Wdr5	A	G	2: 27,423,025 (GRCm39)	Y243C	probably damaging	Het
Zan	T	C	5: 137,420,084 (GRCm39)	T2858A	unknown	Het
Zbtb37	A	T	1: 160,847,939 (GRCm39)	V356E	probably benign	Het
Zfp36	C	T	7: 28,077,759 (GRCm39)	V50I	probably damaging	Het
Zfp563	A	T	17: 33,323,659 (GRCm39)	S85C	possibly damaging	Het

Other mutations in Trim67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Trim67	APN	8	125,541,799 (GRCm39)	splice site	probably benign
IGL01676:Trim67	APN	8	125,541,899 (GRCm39)	missense	possibly damaging	0.51
IGL01779:Trim67	APN	8	125,554,860 (GRCm39)	missense	probably damaging	1.00
IGL02057:Trim67	APN	8	125,549,869 (GRCm39)	missense	probably benign	0.00
IGL02201:Trim67	APN	8	125,520,797 (GRCm39)	missense	probably benign	0.26
IGL02304:Trim67	APN	8	125,552,691 (GRCm39)	missense	probably damaging	1.00
R0068:Trim67	UTSW	8	125,521,307 (GRCm39)	missense	probably damaging	0.97
R0319:Trim67	UTSW	8	125,549,966 (GRCm39)	missense	probably damaging	0.98
R0471:Trim67	UTSW	8	125,521,397 (GRCm39)	missense	probably benign	0.01
R1171:Trim67	UTSW	8	125,555,820 (GRCm39)	missense	probably damaging	0.97
R1175:Trim67	UTSW	8	125,543,774 (GRCm39)	missense	probably damaging	0.99
R1444:Trim67	UTSW	8	125,549,932 (GRCm39)	missense	probably benign	0.01
R1596:Trim67	UTSW	8	125,552,878 (GRCm39)	missense	probably damaging	0.97
R1706:Trim67	UTSW	8	125,521,160 (GRCm39)	missense	probably damaging	1.00
R4951:Trim67	UTSW	8	125,521,406 (GRCm39)	missense	probably benign
R5200:Trim67	UTSW	8	125,551,589 (GRCm39)	missense	probably damaging	0.99
R5787:Trim67	UTSW	8	125,521,051 (GRCm39)	nonsense	probably null
R6023:Trim67	UTSW	8	125,541,843 (GRCm39)	missense	probably damaging	0.99
R6290:Trim67	UTSW	8	125,549,918 (GRCm39)	missense	probably benign	0.00
R6536:Trim67	UTSW	8	125,521,081 (GRCm39)	missense	possibly damaging	0.51
R7315:Trim67	UTSW	8	125,521,069 (GRCm39)	missense	probably benign	0.18
R7660:Trim67	UTSW	8	125,547,024 (GRCm39)	missense	probably damaging	1.00
R8432:Trim67	UTSW	8	125,520,801 (GRCm39)	small deletion	probably benign
R8446:Trim67	UTSW	8	125,520,730 (GRCm39)	missense	probably damaging	0.99
R8713:Trim67	UTSW	8	125,547,074 (GRCm39)	missense	probably null	0.06
R8897:Trim67	UTSW	8	125,552,718 (GRCm39)	missense	probably benign
R9322:Trim67	UTSW	8	125,549,967 (GRCm39)	nonsense	probably null
R9430:Trim67	UTSW	8	125,552,956 (GRCm39)	missense	probably damaging	0.98
R9542:Trim67	UTSW	8	125,521,497 (GRCm39)	missense	possibly damaging	0.84
Z1088:Trim67	UTSW	8	125,543,780 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACATGTAACATGCGCGGTACGG -3'
(R):5'- TGTCCTACAGGGTTCTCAGACAGC -3'

Sequencing Primer
(F):5'- GGAAAAGAGGACTTCCTTCCTTG -3'
(R):5'- GGTTCTCAGACAGCACAGG -3'

Posted On

2013-07-11