Mutagenetix > Incidental Mutation

Incidental Mutation 'R6023:Trim67'

479042

Institutional Source

Beutler Lab

Gene Symbol

Trim67

Ensembl Gene

ENSMUSG00000036913

Gene Name

tripartite motif-containing 67

Synonyms

D130049O21Rik

MMRRC Submission

044195-MU

Accession Numbers

Essential gene?

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

Stock #

R6023 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125519831-125561452 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125541843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 347 (D347V)

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: D347V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040601
Gene: ENSMUSG00000036913
AA Change: D347V

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: D347V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130343
Gene: ENSMUSG00000036913
AA Change: D347V

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: D347V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.0940

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,757,843 (GRCm39)	N1302S	possibly damaging	Het
Aff3	A	T	1: 38,257,451 (GRCm39)	S424T	probably damaging	Het
Ap2b1	C	T	11: 83,226,224 (GRCm39)	T207M	probably damaging	Het
Appl2	T	C	10: 83,484,393 (GRCm39)	Q18R	probably null	Het
Atrn	T	C	2: 130,862,900 (GRCm39)	F1327L	probably benign	Het
Birc6	A	T	17: 74,961,372 (GRCm39)	I47F	probably benign	Het
Cdh23	A	T	10: 60,301,321 (GRCm39)	I451N	probably damaging	Het
Clec3a	A	G	8: 115,144,883 (GRCm39)	T20A	possibly damaging	Het
Cpz	T	A	5: 35,669,922 (GRCm39)	I252F	probably benign	Het
Ctc1	A	G	11: 68,913,433 (GRCm39)	D143G	probably benign	Het
Dhrs1	A	T	14: 55,981,127 (GRCm39)	Y94*	probably null	Het
Dnajc25	A	G	4: 59,013,752 (GRCm39)	K157E	possibly damaging	Het
Dpp6	T	C	5: 27,928,545 (GRCm39)	I789T	probably damaging	Het
Duox1	T	G	2: 122,168,165 (GRCm39)	F1097V	probably benign	Het
Ercc8	A	G	13: 108,315,111 (GRCm39)	T242A	probably damaging	Het
Evc2	T	A	5: 37,505,960 (GRCm39)	M93K	probably benign	Het
Glra1	A	T	11: 55,424,679 (GRCm39)	V94E	probably damaging	Het
Got1l1	A	T	8: 27,689,932 (GRCm39)	Y151*	probably null	Het
Hcrtr2	T	A	9: 76,137,886 (GRCm39)	I410F	probably benign	Het
Ighv1-72	T	A	12: 115,721,532 (GRCm39)		probably benign	Het
Kel	C	A	6: 41,674,409 (GRCm39)	E340D	probably benign	Het
Kif11	A	G	19: 37,379,158 (GRCm39)	E283G	probably damaging	Het
Klk4	T	G	7: 43,533,482 (GRCm39)	F114V	probably benign	Het
Krt7	T	C	15: 101,310,278 (GRCm39)		probably benign	Het
Lrrc74a	A	G	12: 86,805,380 (GRCm39)	I401V	probably damaging	Het
Luzp2	T	C	7: 54,707,815 (GRCm39)	S68P	possibly damaging	Het
Naip1	T	C	13: 100,562,694 (GRCm39)	T824A	probably benign	Het
Nav3	T	C	10: 109,659,376 (GRCm39)	Q747R	possibly damaging	Het
Or13p4	T	A	4: 118,547,271 (GRCm39)	Y126F	probably damaging	Het
Or1j11	A	G	2: 36,311,523 (GRCm39)	T38A	probably damaging	Het
Or4c107	A	G	2: 88,789,059 (GRCm39)	D83G	possibly damaging	Het
Or51f1	T	C	7: 102,506,169 (GRCm39)	I107V	possibly damaging	Het
Or52h2	T	C	7: 103,838,880 (GRCm39)	H178R	probably damaging	Het
Or5b120	A	G	19: 13,480,067 (GRCm39)	D120G	probably damaging	Het
Or7g22	A	C	9: 19,049,021 (GRCm39)	H244P	probably damaging	Het
Pcdhb11	T	C	18: 37,555,978 (GRCm39)	I436T	possibly damaging	Het
Pfdn2	T	C	1: 171,184,319 (GRCm39)	Y65H	probably damaging	Het
Polr2h	T	C	16: 20,537,776 (GRCm39)	Y58H	probably benign	Het
Prrt4	G	A	6: 29,176,452 (GRCm39)	P291L	probably benign	Het
Psg29	G	T	7: 16,944,437 (GRCm39)	V316L	possibly damaging	Het
Rnf112	T	A	11: 61,340,555 (GRCm39)	E525V	probably damaging	Het
Sgms1	T	C	19: 32,101,773 (GRCm39)	K411R	probably benign	Het
Sh3tc1	T	A	5: 35,864,295 (GRCm39)	K631*	probably null	Het
Syne1	T	C	10: 5,393,223 (GRCm39)	M48V	probably benign	Het
Thrb	C	T	14: 18,011,209 (GRCm38)	T226I	probably damaging	Het
Try4	T	C	6: 41,280,355 (GRCm39)	S60P	probably damaging	Het
Ttn	G	T	2: 76,565,744 (GRCm39)	L19876I	probably damaging	Het
Vars1	C	T	17: 35,220,585 (GRCm39)	R56C	probably damaging	Het
Vmn1r9	A	G	6: 57,048,239 (GRCm39)	I105V	probably benign	Het
Vps8	C	A	16: 21,279,988 (GRCm39)	T313K	probably benign	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
R0241:Trim67	UTSW	8	125,549,929 (GRCm39)	missense	probably damaging	0.99
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
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'- CCAGCATGTATTGTCTAGTCGTG -3'
(R):5'- AGGCCTGCCTAAGTACCAAC -3'

Sequencing Primer
(F):5'- CTAGTCGTGAGTCAGTCCTGGC -3'
(R):5'- GTACCAACAGTGTTACCTGCATG -3'

Posted On

2017-06-26