Mutagenetix > Incidental Mutation

Incidental Mutation 'R4274:Trim56'

324700

Institutional Source

Beutler Lab

Gene Symbol

Trim56

Ensembl Gene

ENSMUSG00000043279

Gene Name

tripartite motif-containing 56

Synonyms

A130009K11Rik, RNF109, LOC384309

MMRRC Submission

041077-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4274 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

137140140-137145313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137142541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 325 (E325V)

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: E325V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058109
Gene: ENSMUSG00000043279
AA Change: E325V

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

Meta Mutation Damage Score

0.2986

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,980,930 (GRCm39)	Y36C	probably damaging	Het
Abcc4	T	C	14: 118,867,034 (GRCm39)	R228G	probably damaging	Het
Acap2	A	T	16: 30,926,932 (GRCm39)	S528T	probably benign	Het
Adamts6	T	A	13: 104,450,787 (GRCm39)	D323E	possibly damaging	Het
Ano8	G	T	8: 71,931,385 (GRCm39)		probably benign	Het
Ano9	T	G	7: 140,690,608 (GRCm39)	Q48P	probably benign	Het
Atp13a1	T	G	8: 70,257,942 (GRCm39)	L899R	probably benign	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Csn1s1	T	C	5: 87,828,820 (GRCm39)	*295R	probably null	Het
Dhx9	A	G	1: 153,344,672 (GRCm39)	I505T	probably damaging	Het
Dnajc17	A	T	2: 119,016,866 (GRCm39)	S37T	probably benign	Het
Dot1l	T	A	10: 80,619,822 (GRCm39)		probably null	Het
Dph7	A	G	2: 24,853,512 (GRCm39)	N109S	possibly damaging	Het
Ednra	C	T	8: 78,446,931 (GRCm39)	G49D	probably benign	Het
Fam83g	T	C	11: 61,592,554 (GRCm39)	M259T	probably damaging	Het
Fer1l4	A	T	2: 155,862,464 (GRCm39)	D1736E	probably damaging	Het
Fetub	T	C	16: 22,754,429 (GRCm39)	I212T	probably damaging	Het
Foxc2	C	A	8: 121,844,439 (GRCm39)	S362R	probably benign	Het
Gm8444	A	G	15: 81,727,734 (GRCm39)		probably benign	Het
Gpank1	G	A	17: 35,343,245 (GRCm39)	E242K	probably benign	Het
Hps4	G	A	5: 112,522,896 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ighv1-20	A	T	12: 114,687,819 (GRCm39)	W3R	probably damaging	Het
Kcnq1	T	C	7: 142,738,179 (GRCm39)	I209T	probably damaging	Het
Me3	A	T	7: 89,455,934 (GRCm39)	E262V	probably damaging	Het
Mei1	G	A	15: 82,009,064 (GRCm39)	R1233Q	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgprx3-ps	T	C	7: 46,959,574 (GRCm39)		noncoding transcript	Het
Or4k37	A	T	2: 111,159,160 (GRCm39)	Y132F	probably damaging	Het
Or5p6	C	A	7: 107,630,751 (GRCm39)	K266N	probably benign	Het
Or8a1b	A	T	9: 37,623,364 (GRCm39)	D70E	probably damaging	Het
Ostm1	T	C	10: 42,574,230 (GRCm39)	F153L	probably damaging	Het
Pkd1l3	C	T	8: 110,350,751 (GRCm39)	T532I	possibly damaging	Het
Prpf40a	G	A	2: 53,036,184 (GRCm39)	H624Y	probably damaging	Het
Rtn2	T	C	7: 19,021,249 (GRCm39)	S210P	probably benign	Het
Siglec1	T	C	2: 130,927,734 (GRCm39)	Q24R	probably benign	Het
Smurf1	T	C	5: 144,833,585 (GRCm39)		probably benign	Het
Ssr1	G	A	13: 38,169,266 (GRCm39)	L225F	possibly damaging	Het
Tlr6	A	G	5: 65,110,981 (GRCm39)	I642T	probably benign	Het
Tnpo1	GCACCTCTGCTTCCTC	GCACCTCTGCTTCCTCACCTCTGCTTCCTC	13: 99,003,637 (GRCm39)		probably null	Het
Tnrc18	T	C	5: 142,729,405 (GRCm39)	K1674R	unknown	Het
Tns1	T	A	1: 73,967,257 (GRCm39)	Y1115F	probably damaging	Het
Ttn	T	C	2: 76,606,318 (GRCm39)	T18164A	possibly damaging	Het
Ugt2a3	A	T	5: 87,475,548 (GRCm39)	D361E	probably damaging	Het
Vmn2r125	T	C	4: 156,702,382 (GRCm39)	I56T	probably benign	Het
Xkr5	T	A	8: 18,984,183 (GRCm39)	H453L	probably benign	Het
Zcchc7	C	T	4: 44,931,335 (GRCm39)	H496Y	possibly damaging	Het
Zfp82	C	T	7: 29,755,792 (GRCm39)	R430H	probably damaging	Het
Zscan22	T	C	7: 12,640,251 (GRCm39)	V6A	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
IGL02604:Trim56	APN	5	137,141,930 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCCTTTCGATGAAGACCC -3'
(R):5'- AATCCTCAAGTCCCTGCTGG -3'

Sequencing Primer
(F):5'- GAAGACCCCATCATCTTCTTGG -3'
(R):5'- TGCTGGCCCAGAAGCAG -3'

Posted On

2015-06-24