Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03069:Trim56'

409808

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 #

IGL03069

Quality Score

Status

Chromosome

Chromosomal Location

137140140-137145313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137142616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 300 (Q300R)

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: Q300R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058109
Gene: ENSMUSG00000043279
AA Change: Q300R

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	G	8: 13,607,704 (GRCm39)		probably null	Het
Acp3	T	C	9: 104,197,204 (GRCm39)	E145G	possibly damaging	Het
Ankrd28	T	A	14: 31,477,743 (GRCm39)	K42*	probably null	Het
Arsg	A	T	11: 109,454,082 (GRCm39)	K429N	probably damaging	Het
Bsn	G	A	9: 107,991,462 (GRCm39)	T1430I	probably damaging	Het
Calu	A	G	6: 29,356,582 (GRCm39)	D36G	possibly damaging	Het
Ccdc18	T	C	5: 108,376,767 (GRCm39)	S1403P	probably damaging	Het
Cdca2	A	G	14: 67,952,385 (GRCm39)		probably benign	Het
Cfh	C	A	1: 140,026,793 (GRCm39)		probably benign	Het
Cyp2c69	C	T	19: 39,869,537 (GRCm39)	G161S	probably benign	Het
Dennd4c	C	A	4: 86,692,674 (GRCm39)	Y61*	probably null	Het
Diaph3	A	G	14: 87,009,555 (GRCm39)	S1075P	probably damaging	Het
Dpp7	T	A	2: 25,245,735 (GRCm39)		probably null	Het
Dtd1	T	A	2: 144,588,981 (GRCm39)		probably benign	Het
Dtl	C	A	1: 191,289,008 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,390,457 (GRCm39)	D344G	probably damaging	Het
Hsp90ab1	A	T	17: 45,879,954 (GRCm39)	C159S	possibly damaging	Het
Kcnip2	T	C	19: 45,784,710 (GRCm39)		probably benign	Het
Krba1	A	G	6: 48,391,483 (GRCm39)	T755A	possibly damaging	Het
L2hgdh	C	T	12: 69,739,173 (GRCm39)	V433I	probably benign	Het
Lamc1	A	T	1: 153,115,127 (GRCm39)	L1050I	probably damaging	Het
Lgals4	A	T	7: 28,540,343 (GRCm39)	I213L	probably benign	Het
Lysmd1	A	G	3: 95,044,945 (GRCm39)	I64V	probably damaging	Het
Mfsd4b4	A	C	10: 39,768,311 (GRCm39)	C261G	probably benign	Het
Mrgprb3	T	A	7: 48,293,198 (GRCm39)	I118F	possibly damaging	Het
Mtmr2	T	A	9: 13,704,501 (GRCm39)	Y137*	probably null	Het
Ofcc1	A	T	13: 40,226,140 (GRCm39)	H797Q	probably benign	Het
Omd	A	T	13: 49,745,870 (GRCm39)		probably benign	Het
Or5d46	C	T	2: 88,170,643 (GRCm39)		probably null	Het
Or8g21	A	T	9: 38,906,728 (GRCm39)	M1K	probably null	Het
Polr3a	T	A	14: 24,511,808 (GRCm39)	D916V	probably damaging	Het
Prpf38a	T	C	4: 108,432,628 (GRCm39)	Y117C	probably damaging	Het
Scn11a	C	T	9: 119,619,029 (GRCm39)	G771D	probably benign	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Snx1	T	A	9: 66,001,906 (GRCm39)	I306F	probably benign	Het
Snx31	T	A	15: 36,525,749 (GRCm39)	R317*	probably null	Het
Sorl1	T	C	9: 41,902,722 (GRCm39)	T1612A	probably benign	Het
Spag1	G	T	15: 36,224,245 (GRCm39)		probably benign	Het
Stambp	A	G	6: 83,538,914 (GRCm39)	F162S	probably damaging	Het
Tkfc	T	A	19: 10,576,518 (GRCm39)	M122L	probably benign	Het
Tnni3k	T	A	3: 154,647,242 (GRCm39)		probably null	Het
Ttc24	T	A	3: 87,977,408 (GRCm39)	T113S	probably benign	Het
Xirp2	A	T	2: 67,339,876 (GRCm39)	T706S	possibly damaging	Het
Yipf5	T	A	18: 40,339,290 (GRCm39)		probably benign	Het
Zfp202	T	C	9: 40,122,695 (GRCm39)	S486P	probably damaging	Het
Zfp407	A	G	18: 84,369,100 (GRCm39)	S1676P	probably damaging	Het
Znrd2	G	T	19: 5,780,450 (GRCm39)	L183I	possibly damaging	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
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

2016-08-02