Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02419:Trim47'

292592

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 #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

115996576-116001061 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115997027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 576 (R576W)

Ref Sequence

ENSEMBL: ENSMUSP00000102049 (fasta)

Gene Model

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

AlphaFold

Q8C0E3

Predicted Effect

probably damaging
Transcript: ENSMUST00000021120
AA Change: R577W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021120
Gene: ENSMUSG00000020773
AA Change: R577W

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: R576W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102049
Gene: ENSMUSG00000020773
AA Change: R576W

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	C	8: 88,312,727 (GRCm39)	F171L	possibly damaging	Het
Abca2	A	G	2: 25,336,849 (GRCm39)	N2291D	probably benign	Het
Adamts9	A	G	6: 92,773,978 (GRCm39)	V1145A	probably benign	Het
Adcy2	A	G	13: 69,130,482 (GRCm39)	V135A	probably benign	Het
Akr1c14	A	T	13: 4,130,617 (GRCm39)		probably null	Het
Aptx	G	T	4: 40,691,032 (GRCm39)	A229E	probably benign	Het
Ash1l	T	C	3: 88,892,872 (GRCm39)	S1584P	probably benign	Het
Catsper3	A	T	13: 55,955,881 (GRCm39)	T329S	possibly damaging	Het
Cntrl	A	G	2: 35,024,055 (GRCm39)	D27G	probably damaging	Het
Cobll1	A	T	2: 64,981,392 (GRCm39)	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,463,799 (GRCm39)	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777 (GRCm39)		probably null	Het
Cyp11b2	A	T	15: 74,722,904 (GRCm39)	F498Y	probably damaging	Het
Dnpep	A	G	1: 75,292,332 (GRCm39)	I162T	probably damaging	Het
Efcab9	T	C	11: 32,472,950 (GRCm39)	I166V	probably benign	Het
Ep400	A	T	5: 110,845,242 (GRCm39)		probably null	Het
Gata6	G	A	18: 11,054,220 (GRCm39)	G50R	probably damaging	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Grifin	T	C	5: 140,550,455 (GRCm39)	T20A	probably benign	Het
Hnf4a	A	T	2: 163,408,202 (GRCm39)	I352F	probably damaging	Het
Ifi204	T	C	1: 173,576,946 (GRCm39)	T552A	possibly damaging	Het
Ifi205	C	T	1: 173,845,180 (GRCm39)	A201T	probably damaging	Het
Kcnk6	A	G	7: 28,924,627 (GRCm39)	V259A	probably benign	Het
Kif21b	A	G	1: 136,079,005 (GRCm39)	N451S	probably benign	Het
Klhl24	T	A	16: 19,926,118 (GRCm39)	Y215*	probably null	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mical1	A	G	10: 41,358,273 (GRCm39)	K429E	possibly damaging	Het
Misp	A	G	10: 79,663,705 (GRCm39)		probably benign	Het
Mon2	T	C	10: 122,852,352 (GRCm39)	N1007S	probably benign	Het
Or10v1	A	T	19: 11,874,186 (GRCm39)	Y267F	probably benign	Het
Or14a260	C	A	7: 85,984,870 (GRCm39)	V245F	probably damaging	Het
Or51v8	A	T	7: 103,319,682 (GRCm39)	C185*	probably null	Het
Or8k41	T	A	2: 86,313,259 (GRCm39)	I276F	probably damaging	Het
Pex6	C	A	17: 47,035,361 (GRCm39)	T840N	possibly damaging	Het
Prox1	C	T	1: 189,893,327 (GRCm39)	A373T	probably benign	Het
Rapgef3	G	T	15: 97,648,171 (GRCm39)	N679K	probably benign	Het
Serpina3n	T	C	12: 104,379,777 (GRCm39)	V390A	possibly damaging	Het
Sirpb1a	A	G	3: 15,491,398 (GRCm39)	F23S	probably benign	Het
Slc44a3	T	C	3: 121,283,906 (GRCm39)	T449A	probably benign	Het
Smad6	G	A	9: 63,860,800 (GRCm39)		probably benign	Het
Sos2	C	T	12: 69,663,764 (GRCm39)	M573I	probably benign	Het
St8sia1	A	T	6: 142,774,661 (GRCm39)	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 84,902,125 (GRCm39)	S1674P	possibly damaging	Het
Wdr86	A	T	5: 24,927,702 (GRCm39)	I79N	probably damaging	Het
Wwp2	T	A	8: 108,276,447 (GRCm39)	V473D	probably damaging	Het
Zc3h12a	T	C	4: 125,013,581 (GRCm39)	T428A	probably benign	Het
Zfp592	A	G	7: 80,687,993 (GRCm39)	E973G	probably damaging	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
IGL03329:Trim47	APN	11	115,997,254 (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

2015-04-16