Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03329:Trim47'

416810

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim47

Ensembl Gene

ENSMUSG00000020773

Gene Name

tripartite motif-containing 47

Synonyms

2210023F24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03329

Quality Score

Status

Chromosome

Chromosomal Location

115996576-116001061 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115997254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 501 (V501A)

Ref Sequence

ENSEMBL: ENSMUSP00000021120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021120] [ENSMUST00000106441]

AlphaFold

Q8C0E3

Predicted Effect

probably damaging
Transcript: ENSMUST00000021120
AA Change: V501A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021120
Gene: ENSMUSG00000020773
AA Change: V501A

Domain	Start	End	E-Value	Type
RING	9	57	3.14e-11	SMART
low complexity region	101	122	N/A	INTRINSIC
BBOX	128	177	8.32e0	SMART
BBOX	181	221	1.76e-5	SMART
low complexity region	337	349	N/A	INTRINSIC
low complexity region	350	358	N/A	INTRINSIC
PRY	431	482	1.4e-2	SMART
Blast:SPRY	483	632	1e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000106441
AA Change: V500A

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

SMART Domains

Protein: ENSMUSP00000102049
Gene: ENSMUSG00000020773
AA Change: V500A

Domain	Start	End	E-Value	Type
RING	9	57	3.14e-11	SMART
low complexity region	101	122	N/A	INTRINSIC
BBOX	128	177	8.32e0	SMART
BBOX	181	221	1.76e-5	SMART
low complexity region	337	349	N/A	INTRINSIC
low complexity region	350	358	N/A	INTRINSIC
PRY	430	481	1.4e-2	SMART
Pfam:SPRY	482	579	1.2e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149957

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,248,047 (GRCm39)	D2598G	probably benign	Het
Abcf2	T	G	5: 24,776,246 (GRCm39)		probably null	Het
Acsl1	T	A	8: 46,946,031 (GRCm39)	C55S	possibly damaging	Het
Adam22	T	A	5: 8,199,210 (GRCm39)	M249L	possibly damaging	Het
Alk	A	G	17: 72,206,159 (GRCm39)		probably benign	Het
Ambn	T	G	5: 88,609,527 (GRCm39)	S78R	probably benign	Het
Apbb1ip	T	A	2: 22,757,729 (GRCm39)	V449D	possibly damaging	Het
Atp13a5	A	T	16: 29,152,883 (GRCm39)	Y194*	probably null	Het
Cacul1	A	T	19: 60,531,489 (GRCm39)	F260Y	probably damaging	Het
Cfap46	A	G	7: 139,181,081 (GRCm39)	I2640T	probably damaging	Het
Chd7	T	C	4: 8,841,108 (GRCm39)	S1446P	probably damaging	Het
Cimap2	G	T	4: 106,464,601 (GRCm39)	R353S	possibly damaging	Het
Clcn2	G	A	16: 20,530,902 (GRCm39)	T276I	probably damaging	Het
Dcbld1	T	G	10: 52,195,721 (GRCm39)	Y310D	probably damaging	Het
Dennd4c	G	A	4: 86,696,113 (GRCm39)	V157I	probably damaging	Het
Dennd5b	G	T	6: 148,899,758 (GRCm39)	T1213K	possibly damaging	Het
Dusp8	A	T	7: 141,638,097 (GRCm39)	L177*	probably null	Het
Erbb4	T	C	1: 68,367,281 (GRCm39)	S479G	probably benign	Het
Gpbp1	T	A	13: 111,589,787 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,608,661 (GRCm39)	Q1507L	probably damaging	Het
Inppl1	G	T	7: 101,473,587 (GRCm39)	T1021K	possibly damaging	Het
Klk1b9	A	G	7: 43,628,838 (GRCm39)	E114G	probably benign	Het
Klre1	T	C	6: 129,562,660 (GRCm39)		probably benign	Het
Lancl1	T	C	1: 67,060,209 (GRCm39)	Y72C	probably damaging	Het
Lilra6	A	G	7: 3,917,647 (GRCm39)		probably benign	Het
Magi2	T	C	5: 20,671,126 (GRCm39)	V490A	possibly damaging	Het
Myo3b	T	A	2: 70,084,803 (GRCm39)	N720K	probably damaging	Het
Or2ah1	A	C	2: 85,653,729 (GRCm39)	D138A	probably benign	Het
Or7e166	T	C	9: 19,624,597 (GRCm39)	V158A	probably benign	Het
Ppp2r3d	T	A	9: 101,003,630 (GRCm39)		probably benign	Het
Rbm47	T	C	5: 66,184,036 (GRCm39)	D189G	probably damaging	Het
Scn2a	G	A	2: 65,594,973 (GRCm39)	D1941N	probably benign	Het
Sgpp2	T	C	1: 78,367,200 (GRCm39)	I111T	probably benign	Het
Sh3bp2	T	C	5: 34,716,546 (GRCm39)	V319A	probably benign	Het
Slc12a3	A	C	8: 95,092,519 (GRCm39)	Q980P	possibly damaging	Het
Slc39a8	G	T	3: 135,590,474 (GRCm39)	G389V	probably damaging	Het
Slc5a3	T	C	16: 91,874,348 (GRCm39)	I135T	probably damaging	Het
Smu1	A	G	4: 40,739,568 (GRCm39)	V414A	possibly damaging	Het
Tlr12	A	G	4: 128,510,645 (GRCm39)	F535S	possibly damaging	Het
Vmn1r16	A	T	6: 57,300,603 (GRCm39)	N6K	probably damaging	Het
Vwce	G	A	19: 10,637,360 (GRCm39)	C711Y	possibly damaging	Het
Wdr25	C	T	12: 108,864,262 (GRCm39)	L136F	probably benign	Het
Xpo1	A	G	11: 23,234,306 (GRCm39)	Q437R	probably benign	Het
Zfp169	C	A	13: 48,644,270 (GRCm39)		probably benign	Het
Zfp607b	A	T	7: 27,403,295 (GRCm39)	I584F	probably damaging	Het
Zzef1	T	A	11: 72,808,099 (GRCm39)		probably benign	Het

Other mutations in Trim47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Trim47	APN	11	115,997,020 (GRCm39)	missense	probably damaging	1.00
IGL02040:Trim47	APN	11	115,998,734 (GRCm39)	missense	probably damaging	1.00
IGL02419:Trim47	APN	11	115,997,027 (GRCm39)	missense	probably damaging	1.00
trix	UTSW	11	115,998,783 (GRCm39)	missense	probably benign
R0190:Trim47	UTSW	11	115,997,053 (GRCm39)	missense	probably damaging	1.00
R0379:Trim47	UTSW	11	115,997,344 (GRCm39)	missense	probably damaging	1.00
R0523:Trim47	UTSW	11	115,998,716 (GRCm39)	missense	probably damaging	1.00
R0671:Trim47	UTSW	11	115,999,178 (GRCm39)	missense	probably benign
R1730:Trim47	UTSW	11	115,996,864 (GRCm39)	missense	probably damaging	1.00
R1778:Trim47	UTSW	11	116,000,646 (GRCm39)	missense	probably damaging	1.00
R1862:Trim47	UTSW	11	115,996,963 (GRCm39)	missense	probably damaging	1.00
R1901:Trim47	UTSW	11	115,998,605 (GRCm39)	missense	probably damaging	1.00
R2054:Trim47	UTSW	11	115,999,109 (GRCm39)	missense	probably benign	0.43
R2081:Trim47	UTSW	11	115,997,239 (GRCm39)	missense	probably damaging	1.00
R2099:Trim47	UTSW	11	115,997,170 (GRCm39)	missense	probably damaging	1.00
R3832:Trim47	UTSW	11	115,998,783 (GRCm39)	missense	probably benign
R4948:Trim47	UTSW	11	115,996,918 (GRCm39)	missense	probably damaging	1.00
R5097:Trim47	UTSW	11	115,997,260 (GRCm39)	missense	probably benign	0.38
R5148:Trim47	UTSW	11	115,998,678 (GRCm39)	missense	possibly damaging	0.89
R7585:Trim47	UTSW	11	115,998,383 (GRCm39)	missense	probably damaging	1.00
R8695:Trim47	UTSW	11	116,000,926 (GRCm39)	missense	probably benign
R9240:Trim47	UTSW	11	115,999,148 (GRCm39)	missense	probably benign

Posted On

2016-08-02