Mutagenetix > Incidental Mutation

Incidental Mutation 'R2981:Trim58'

257081

Institutional Source

Beutler Lab

Gene Symbol

Trim58

Ensembl Gene

ENSMUSG00000037124

Gene Name

tripartite motif-containing 58

Synonyms

LOC386443, LOC216781

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R2981 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58531291-58543230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58542387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 449 (V449D)

Ref Sequence

ENSEMBL: ENSMUSP00000074594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075084]

AlphaFold

Q5NCC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000075084
AA Change: V449D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074594
Gene: ENSMUSG00000037124
AA Change: V449D

Domain	Start	End	E-Value	Type
RING	15	58	2.95e-7	SMART
BBOX	90	131	2.93e-11	SMART
coiled coil region	192	241	N/A	INTRINSIC
PRY	289	341	5.33e-23	SMART
SPRY	342	461	6.16e-29	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,965,938 (GRCm39)	T163A	probably benign	Het
Adgrg7	C	T	16: 56,570,769 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,977,512 (GRCm39)	Q17K	probably damaging	Het
Cacna2d3	T	C	14: 28,785,875 (GRCm39)	Y604C	probably damaging	Het
Carf	A	T	1: 60,178,391 (GRCm39)	E268V	probably damaging	Het
Dmxl2	C	A	9: 54,300,986 (GRCm39)	R2375L	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fer1l6	A	G	15: 58,435,926 (GRCm39)	K440E	probably damaging	Het
Grin2a	A	T	16: 9,462,087 (GRCm39)	F682I	possibly damaging	Het
Irf3	C	A	7: 44,648,124 (GRCm39)		probably null	Het
Kif1b	C	T	4: 149,304,998 (GRCm39)		probably null	Het
Pcdha5	A	G	18: 37,094,529 (GRCm39)	N346S	probably damaging	Het
Prex2	T	A	1: 11,252,186 (GRCm39)	V1077D	probably damaging	Het
Rptor	T	C	11: 119,756,420 (GRCm39)	L71S	probably damaging	Het
Timeless	A	G	10: 128,084,327 (GRCm39)	T791A	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vrk1	A	G	12: 106,018,052 (GRCm39)	Y107C	probably damaging	Het
Yeats2	C	T	16: 20,005,051 (GRCm39)	P400S	probably damaging	Het

Other mutations in Trim58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02351:Trim58	APN	11	58,542,176 (GRCm39)	missense	probably damaging	1.00
IGL02358:Trim58	APN	11	58,542,176 (GRCm39)	missense	probably damaging	1.00
IGL02792:Trim58	APN	11	58,531,292 (GRCm39)	utr 5 prime	probably benign
IGL02794:Trim58	APN	11	58,531,292 (GRCm39)	utr 5 prime	probably benign
IGL02875:Trim58	APN	11	58,531,292 (GRCm39)	utr 5 prime	probably benign
IGL02934:Trim58	APN	11	58,531,292 (GRCm39)	utr 5 prime	probably benign
IGL03083:Trim58	APN	11	58,542,216 (GRCm39)	missense	probably benign	0.01
IGL03213:Trim58	APN	11	58,541,993 (GRCm39)	missense	probably benign	0.00
R0011:Trim58	UTSW	11	58,533,946 (GRCm39)	missense	probably benign	0.02
R0011:Trim58	UTSW	11	58,533,946 (GRCm39)	missense	probably benign	0.02
R0735:Trim58	UTSW	11	58,542,219 (GRCm39)	missense	probably benign	0.16
R1294:Trim58	UTSW	11	58,533,953 (GRCm39)	missense	probably benign	0.28
R1929:Trim58	UTSW	11	58,531,493 (GRCm39)	missense	possibly damaging	0.84
R2104:Trim58	UTSW	11	58,533,964 (GRCm39)	splice site	probably benign
R2311:Trim58	UTSW	11	58,533,934 (GRCm39)	missense	probably benign	0.02
R3432:Trim58	UTSW	11	58,537,787 (GRCm39)	splice site	probably benign
R4270:Trim58	UTSW	11	58,542,093 (GRCm39)	missense	probably damaging	1.00
R4450:Trim58	UTSW	11	58,542,191 (GRCm39)	missense	probably benign	0.03
R4841:Trim58	UTSW	11	58,542,150 (GRCm39)	missense	probably damaging	0.96
R4842:Trim58	UTSW	11	58,542,150 (GRCm39)	missense	probably damaging	0.96
R5262:Trim58	UTSW	11	58,542,494 (GRCm39)	missense	possibly damaging	0.88
R5979:Trim58	UTSW	11	58,536,909 (GRCm39)	missense	probably damaging	1.00
R6101:Trim58	UTSW	11	58,542,441 (GRCm39)	missense	probably benign	0.01
R6684:Trim58	UTSW	11	58,542,446 (GRCm39)	missense	probably benign	0.00
R6747:Trim58	UTSW	11	58,542,090 (GRCm39)	missense	probably benign	0.02
R7126:Trim58	UTSW	11	58,531,405 (GRCm39)	missense	probably damaging	1.00
R7981:Trim58	UTSW	11	58,542,138 (GRCm39)	missense	probably benign	0.26
R8307:Trim58	UTSW	11	58,537,909 (GRCm39)	missense	probably benign	0.00
R9221:Trim58	UTSW	11	58,542,075 (GRCm39)	missense	probably damaging	1.00
R9318:Trim58	UTSW	11	58,542,093 (GRCm39)	missense	probably damaging	1.00
X0026:Trim58	UTSW	11	58,536,795 (GRCm39)	missense	probably damaging	1.00
X0067:Trim58	UTSW	11	58,537,931 (GRCm39)	missense	possibly damaging	0.89
Z1186:Trim58	UTSW	11	58,542,486 (GRCm39)	missense	probably benign
Z1186:Trim58	UTSW	11	58,531,684 (GRCm39)	missense	possibly damaging	0.83
Z1187:Trim58	UTSW	11	58,542,486 (GRCm39)	missense	probably benign
Z1187:Trim58	UTSW	11	58,531,684 (GRCm39)	missense	possibly damaging	0.83
Z1188:Trim58	UTSW	11	58,542,486 (GRCm39)	missense	probably benign
Z1188:Trim58	UTSW	11	58,531,684 (GRCm39)	missense	possibly damaging	0.83
Z1189:Trim58	UTSW	11	58,542,486 (GRCm39)	missense	probably benign
Z1189:Trim58	UTSW	11	58,531,684 (GRCm39)	missense	possibly damaging	0.83
Z1190:Trim58	UTSW	11	58,542,486 (GRCm39)	missense	probably benign
Z1190:Trim58	UTSW	11	58,531,684 (GRCm39)	missense	possibly damaging	0.83
Z1191:Trim58	UTSW	11	58,542,486 (GRCm39)	missense	probably benign
Z1191:Trim58	UTSW	11	58,531,684 (GRCm39)	missense	possibly damaging	0.83
Z1192:Trim58	UTSW	11	58,542,486 (GRCm39)	missense	probably benign
Z1192:Trim58	UTSW	11	58,531,684 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- ACGAGTACATGGTCCTGTCC -3'
(R):5'- TCAGAATGTGAACCACCCG -3'

Sequencing Primer
(F):5'- GAGTACATGGTCCTGTCCTCTCC -3'
(R):5'- CCTGCAGAATAGGCGTTGG -3'

Posted On

2015-01-11