Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02604:Trim56'

300196

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim56

Ensembl Gene

ENSMUSG00000043279

Gene Name

tripartite motif-containing 56

Synonyms

A130009K11Rik, RNF109, LOC384309

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02604

Quality Score

Status

Chromosome

Chromosomal Location

137140140-137145313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 137141930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 529 (C529G)

Ref Sequence

ENSEMBL: ENSMUSP00000058109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054384] [ENSMUST00000152207]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000054384
AA Change: C529G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058109
Gene: ENSMUSG00000043279
AA Change: C529G

Domain	Start	End	E-Value	Type
RING	21	59	9.09e-8	SMART
low complexity region	118	133	N/A	INTRINSIC
Pfam:zf-B_box	164	205	1.9e-7	PFAM
coiled coil region	257	291	N/A	INTRINSIC
low complexity region	302	309	N/A	INTRINSIC
low complexity region	381	399	N/A	INTRINSIC
low complexity region	432	447	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152207

SMART Domains

Protein: ENSMUSP00000117874
Gene: ENSMUSG00000043279

Domain	Start	End	E-Value	Type
RING	21	59	9.09e-8	SMART
low complexity region	118	133	N/A	INTRINSIC
Pfam:zf-B_box	164	205	2.4e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,878,845 (GRCm39)	V61A	probably benign	Het
Arfgef1	G	A	1: 10,251,275 (GRCm39)		probably benign	Het
Arhgef4	T	A	1: 34,850,804 (GRCm39)	L594*	probably null	Het
Cacna2d3	T	C	14: 29,015,066 (GRCm39)	T375A	possibly damaging	Het
Calb2	A	C	8: 110,875,160 (GRCm39)	Y155D	probably damaging	Het
Camkmt	A	G	17: 85,404,053 (GRCm39)	T92A	possibly damaging	Het
Cfap91	A	G	16: 38,141,921 (GRCm39)		probably benign	Het
Chsy3	A	G	18: 59,542,187 (GRCm39)	S442G	probably benign	Het
Cyp4f13	T	C	17: 33,151,395 (GRCm39)	I173V	probably benign	Het
Dapk1	A	G	13: 60,896,134 (GRCm39)	T741A	probably benign	Het
Dennd3	T	C	15: 73,428,252 (GRCm39)	I866T	probably damaging	Het
Dhrs2	A	T	14: 55,474,778 (GRCm39)	I138F	possibly damaging	Het
Dscaml1	C	T	9: 45,655,626 (GRCm39)		probably benign	Het
Fsbp	A	G	4: 11,584,147 (GRCm39)	E282G	probably damaging	Het
Hpgds	A	T	6: 65,100,594 (GRCm39)	L128Q	probably damaging	Het
Hspa9	A	G	18: 35,087,266 (GRCm39)	V13A	unknown	Het
Itgb3	A	G	11: 104,553,269 (GRCm39)	E709G	probably damaging	Het
Jarid2	T	C	13: 45,027,877 (GRCm39)	S148P	probably damaging	Het
Kcna6	C	T	6: 126,716,167 (GRCm39)	G241R	probably benign	Het
Kdm5a	T	A	6: 120,408,941 (GRCm39)	N1541K	probably benign	Het
Kel	C	A	6: 41,664,516 (GRCm39)	E640D	probably damaging	Het
Lcp1	A	T	14: 75,461,566 (GRCm39)	I520F	probably benign	Het
Lgr4	A	G	2: 109,841,658 (GRCm39)	I524V	probably damaging	Het
Mup20	A	C	4: 61,970,141 (GRCm39)	Y139D	probably damaging	Het
Notch4	T	C	17: 34,784,362 (GRCm39)		probably null	Het
Obox7	A	G	7: 14,399,293 (GRCm39)	E173G	probably benign	Het
Or10a49	T	A	7: 108,467,857 (GRCm39)	Y168F	probably benign	Het
Or2a25	T	A	6: 42,888,992 (GRCm39)	C178*	probably null	Het
Or5w22	A	T	2: 87,362,949 (GRCm39)	T191S	probably damaging	Het
Or8b40	C	T	9: 38,027,148 (GRCm39)	Q19*	probably null	Het
Or9i1	T	A	19: 13,839,170 (GRCm39)	N4K	probably benign	Het
Patl2	T	G	2: 121,955,814 (GRCm39)	T241P	possibly damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plekhg6	T	C	6: 125,354,342 (GRCm39)		probably benign	Het
Pon1	C	A	6: 5,168,375 (GRCm39)	G344V	probably damaging	Het
Ppp1r21	G	T	17: 88,880,171 (GRCm39)	K529N	probably benign	Het
Prdm15	A	G	16: 97,623,142 (GRCm39)	S203P	probably benign	Het
Psmc2	T	A	5: 22,000,098 (GRCm39)		probably null	Het
Ptn	T	C	6: 36,692,653 (GRCm39)	M166V	unknown	Het
Ptpn13	A	G	5: 103,649,769 (GRCm39)	N391D	probably benign	Het
Rnf214	A	G	9: 45,780,841 (GRCm39)	S383P	probably damaging	Het
Rufy4	T	A	1: 74,173,348 (GRCm39)	L438H	probably damaging	Het
Scarf2	A	G	16: 17,621,608 (GRCm39)	T353A	probably damaging	Het
Serpinb9e	A	C	13: 33,441,742 (GRCm39)	I225L	probably benign	Het
Slc25a40	T	C	5: 8,503,219 (GRCm39)	V312A	probably benign	Het
Tmc3	A	G	7: 83,271,827 (GRCm39)	Y993C	possibly damaging	Het
Trim8	T	C	19: 46,503,917 (GRCm39)	S490P	probably damaging	Het
Trmt6	A	T	2: 132,652,357 (GRCm39)	Y147*	probably null	Het
Vmn2r109	T	A	17: 20,760,963 (GRCm39)	H798L	probably damaging	Het
Vps35	A	G	8: 86,013,018 (GRCm39)	L153P	probably damaging	Het
Wdr82	T	C	9: 106,060,880 (GRCm39)	I131T	probably damaging	Het
Zfp69	A	T	4: 120,788,660 (GRCm39)	D218E	probably benign	Het

Other mutations in Trim56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Trim56	APN	5	137,143,354 (GRCm39)	missense	possibly damaging	0.95
IGL02653:Trim56	APN	5	137,141,760 (GRCm39)	missense	probably damaging	1.00
IGL03069:Trim56	APN	5	137,142,616 (GRCm39)	missense	probably damaging	0.99
R0711:Trim56	UTSW	5	137,141,846 (GRCm39)	missense	probably benign	0.00
R1167:Trim56	UTSW	5	137,141,374 (GRCm39)	missense	probably damaging	0.98
R1470:Trim56	UTSW	5	137,142,017 (GRCm39)	missense	probably damaging	0.99
R1470:Trim56	UTSW	5	137,142,017 (GRCm39)	missense	probably damaging	0.99
R1508:Trim56	UTSW	5	137,142,791 (GRCm39)	missense	probably benign	0.00
R1791:Trim56	UTSW	5	137,143,252 (GRCm39)	missense	probably damaging	1.00
R2484:Trim56	UTSW	5	137,141,528 (GRCm39)	missense	possibly damaging	0.95
R4274:Trim56	UTSW	5	137,142,541 (GRCm39)	missense	probably damaging	1.00
R4579:Trim56	UTSW	5	137,142,918 (GRCm39)	missense	possibly damaging	0.60
R4766:Trim56	UTSW	5	137,141,579 (GRCm39)	missense	probably benign	0.07
R4932:Trim56	UTSW	5	137,143,343 (GRCm39)	missense	probably damaging	1.00
R5117:Trim56	UTSW	5	137,142,832 (GRCm39)	missense	probably benign	0.13
R6444:Trim56	UTSW	5	137,141,470 (GRCm39)	missense	probably damaging	0.99
R6747:Trim56	UTSW	5	137,143,375 (GRCm39)	missense	probably damaging	1.00
R6962:Trim56	UTSW	5	137,141,501 (GRCm39)	missense	probably damaging	0.97
R7115:Trim56	UTSW	5	137,142,514 (GRCm39)	missense	probably damaging	0.98
R7266:Trim56	UTSW	5	137,143,097 (GRCm39)	missense	probably damaging	0.98
R7706:Trim56	UTSW	5	137,143,510 (GRCm39)	missense	probably benign	0.00
R8347:Trim56	UTSW	5	137,141,446 (GRCm39)	missense	probably damaging	1.00
R8492:Trim56	UTSW	5	137,141,783 (GRCm39)	missense	probably benign
R8695:Trim56	UTSW	5	137,143,429 (GRCm39)	missense	probably benign	0.15
R9152:Trim56	UTSW	5	137,143,387 (GRCm39)	missense	probably benign	0.06
R9166:Trim56	UTSW	5	137,142,751 (GRCm39)	missense	probably damaging	1.00
R9232:Trim56	UTSW	5	137,141,632 (GRCm39)	missense	probably damaging	1.00
X0019:Trim56	UTSW	5	137,143,064 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16