Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02040:Trim47'

184680

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 #

IGL02040

Quality Score

Status

Chromosome

Chromosomal Location

115996576-116001061 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115998734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 295 (E295G)

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: E295G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021120
Gene: ENSMUSG00000020773
AA Change: E295G

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: E295G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102049
Gene: ENSMUSG00000020773
AA Change: E295G

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	G	5: 3,630,405 (GRCm39)	F107C	probably damaging	Het
4930590J08Rik	T	C	6: 91,895,091 (GRCm39)	V262A	probably benign	Het
A830018L16Rik	T	A	1: 12,003,822 (GRCm39)		probably benign	Het
Adgrb1	T	C	15: 74,413,424 (GRCm39)	V536A	possibly damaging	Het
Ano6	T	G	15: 95,853,825 (GRCm39)	I667R	probably benign	Het
Ap3b1	T	A	13: 94,545,353 (GRCm39)		probably null	Het
Azin2	G	T	4: 128,844,451 (GRCm39)	L37M	possibly damaging	Het
Caap1	A	G	4: 94,438,667 (GRCm39)	I174T	probably damaging	Het
Cacna1h	A	G	17: 25,616,585 (GRCm39)	V46A	probably benign	Het
Chrna6	T	C	8: 27,897,289 (GRCm39)	D196G	probably damaging	Het
Col19a1	A	G	1: 24,351,126 (GRCm39)		probably null	Het
Defb22	G	T	2: 152,331,976 (GRCm39)	T19K	possibly damaging	Het
Dhx36	T	C	3: 62,408,436 (GRCm39)	D134G	probably benign	Het
Dync1h1	A	G	12: 110,603,558 (GRCm39)	I2211V	probably benign	Het
Ecel1	A	C	1: 87,082,645 (GRCm39)	C23G	probably benign	Het
Elmod2	A	G	8: 84,048,126 (GRCm39)	V112A	probably damaging	Het
Enpp1	T	C	10: 24,531,754 (GRCm39)	K510E	probably damaging	Het
Erbb4	A	T	1: 68,081,694 (GRCm39)	S1113R	probably damaging	Het
Esf1	A	T	2: 139,971,181 (GRCm39)	D653E	possibly damaging	Het
Exd1	A	G	2: 119,370,546 (GRCm39)	V54A	possibly damaging	Het
Fam227b	A	T	2: 125,963,004 (GRCm39)		probably benign	Het
Fnbp1l	A	G	3: 122,364,602 (GRCm39)		probably benign	Het
Foxf1	A	G	8: 121,812,084 (GRCm39)	N316S	probably damaging	Het
Gpaa1	T	C	15: 76,218,495 (GRCm39)	V426A	probably benign	Het
Gpc2	A	G	5: 138,274,844 (GRCm39)		probably null	Het
Hnrnpab	A	G	11: 51,492,622 (GRCm39)		probably benign	Het
Hsf4	T	G	8: 106,002,299 (GRCm39)		probably benign	Het
Inpp4a	G	T	1: 37,435,166 (GRCm39)	R179L	probably damaging	Het
Jakmip2	T	A	18: 43,704,919 (GRCm39)	M361L	probably benign	Het
Kif15	A	C	9: 122,846,450 (GRCm39)	Y117S	probably damaging	Het
Lnpep	T	C	17: 17,765,167 (GRCm39)	H761R	probably benign	Het
Masp2	G	T	4: 148,688,270 (GRCm39)	C180F	probably damaging	Het
Mical2	A	G	7: 111,910,613 (GRCm39)	E261G	probably damaging	Het
Mtmr7	T	C	8: 41,013,926 (GRCm39)	I211V	probably benign	Het
Nsd2	T	C	5: 34,024,915 (GRCm39)		probably benign	Het
Or4c121	A	G	2: 89,023,907 (GRCm39)	I157T	probably benign	Het
Or51q1c	A	G	7: 103,652,614 (GRCm39)	N44S	probably damaging	Het
Or8d1b	T	C	9: 38,887,910 (GRCm39)		probably benign	Het
Or8j3c	A	G	2: 86,253,336 (GRCm39)	I228T	probably damaging	Het
Oxct1	G	A	15: 4,056,250 (GRCm39)		probably benign	Het
Pira13	A	G	7: 3,824,516 (GRCm39)		probably benign	Het
Plbd2	C	T	5: 120,625,507 (GRCm39)	S430N	probably damaging	Het
Postn	A	G	3: 54,270,110 (GRCm39)	K63R	probably benign	Het
Pramel19	G	A	4: 101,798,331 (GRCm39)	V101I	possibly damaging	Het
Proc	A	T	18: 32,267,913 (GRCm39)	V75E	probably benign	Het
Ptprt	T	C	2: 162,079,992 (GRCm39)	Y269C	probably damaging	Het
Rcc2	T	C	4: 140,447,902 (GRCm39)	V476A	possibly damaging	Het
Recql5	A	G	11: 115,823,623 (GRCm39)	V41A	possibly damaging	Het
Ros1	T	A	10: 51,992,018 (GRCm39)	I1402F	probably damaging	Het
Rpgrip1	C	T	14: 52,358,476 (GRCm39)	T194I	possibly damaging	Het
Scin	T	C	12: 40,119,452 (GRCm39)		probably benign	Het
Skint4	T	C	4: 112,003,679 (GRCm39)		probably benign	Het
Sptan1	T	A	2: 29,903,725 (GRCm39)	S1545T	probably benign	Het
Tpra1	A	T	6: 88,887,164 (GRCm39)	H168L	possibly damaging	Het
Ttc28	T	A	5: 111,040,802 (GRCm39)	C63*	probably null	Het
Usp45	G	A	4: 21,830,433 (GRCm39)	R696H	probably benign	Het
Zfyve27	G	A	19: 42,167,830 (GRCm39)	R124Q	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
IGL02419:Trim47	APN	11	115,997,027 (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

2014-05-07