Mutagenetix > Incidental Mutation

Incidental Mutation 'R5097:Trim47'

388101

Institutional Source

Beutler Lab

Gene Symbol

Trim47

Ensembl Gene

ENSMUSG00000020773

Gene Name

tripartite motif-containing 47

Synonyms

2210023F24Rik

MMRRC Submission

042686-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5097 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115996576-116001061 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115997260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 499 (V499A)

Ref Sequence

ENSEMBL: ENSMUSP00000021120 (fasta)

Gene Model

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

AlphaFold

Q8C0E3

Predicted Effect

probably benign
Transcript: ENSMUST00000021120
AA Change: V499A

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021120
Gene: ENSMUSG00000020773
AA Change: V499A

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 benign
Transcript: ENSMUST00000106441
AA Change: V498A

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102049
Gene: ENSMUSG00000020773
AA Change: V498A

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

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	A	5: 89,840,909 (GRCm39)	V805F	probably damaging	Het
Adgrb3	G	A	1: 25,865,165 (GRCm39)	T226M	probably damaging	Het
Ak5	A	G	3: 152,187,270 (GRCm39)	S406P	probably damaging	Het
Akt3	C	G	1: 177,076,254 (GRCm39)	V12L	probably benign	Het
Arhgef40	A	C	14: 52,227,146 (GRCm39)	S397R	probably damaging	Het
Atp5f1c	A	G	2: 10,068,323 (GRCm39)	V144A	probably benign	Het
Ccser1	A	G	6: 61,289,144 (GRCm39)	S436G	probably benign	Het
Clgn	G	T	8: 84,137,152 (GRCm39)	V290F	possibly damaging	Het
Dis3l	T	A	9: 64,226,498 (GRCm39)	D261V	probably damaging	Het
Dnah11	T	A	12: 117,981,435 (GRCm39)	Y2577F	probably damaging	Het
Evi5l	A	G	8: 4,243,317 (GRCm39)	E371G	probably damaging	Het
Fat2	A	G	11: 55,201,530 (GRCm39)	S515P	probably damaging	Het
Fsip2	A	G	2: 82,822,329 (GRCm39)	I6021V	probably benign	Het
Ftdc1	A	C	16: 58,434,227 (GRCm39)	N163K	probably benign	Het
Gstm5	A	T	3: 107,803,258 (GRCm39)		probably benign	Het
H2-Oa	G	A	17: 34,312,809 (GRCm39)	D29N	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ireb2	A	G	9: 54,802,668 (GRCm39)	I434M	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Micall1	A	G	15: 79,014,078 (GRCm39)	T658A	probably benign	Het
Mitf	C	T	6: 97,973,423 (GRCm39)	A252V	possibly damaging	Het
Mpzl1	A	G	1: 165,433,285 (GRCm39)	I122T	probably damaging	Het
Mtus2	G	A	5: 148,232,392 (GRCm39)	V146I	probably damaging	Het
Myh11	C	T	16: 14,023,770 (GRCm39)		probably null	Het
Myrfl	A	G	10: 116,653,609 (GRCm39)	I486T	probably damaging	Het
N4bp2	T	C	5: 65,974,561 (GRCm39)	V1477A	probably damaging	Het
Ndc1	T	A	4: 107,231,358 (GRCm39)	S100T	probably benign	Het
Nek10	T	A	14: 14,857,851 (GRCm38)	N433K	probably benign	Het
Noc4l	C	T	5: 110,799,212 (GRCm39)	S190N	probably benign	Het
Nprl2	A	G	9: 107,420,731 (GRCm39)	E122G	probably damaging	Het
Or13a19	A	G	7: 139,903,008 (GRCm39)	Y132C	probably damaging	Het
Or1e16	G	C	11: 73,286,119 (GRCm39)	S243C	probably damaging	Het
Or6n2	C	T	1: 173,897,095 (GRCm39)	T77I	probably benign	Het
Osbpl1a	T	C	18: 12,896,594 (GRCm39)	I324V	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Peg3	C	T	7: 6,713,026 (GRCm39)	R732H	probably damaging	Het
Rfc4	A	G	16: 22,933,046 (GRCm39)	I297T	possibly damaging	Het
Rpl3l	T	A	17: 24,952,435 (GRCm39)	D218E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sesn2	C	T	4: 132,224,209 (GRCm39)	V400I	probably benign	Het
Syt11	C	T	3: 88,655,231 (GRCm39)	V51I	probably benign	Het
Tas2r115	A	C	6: 132,714,216 (GRCm39)	L245R	probably damaging	Het
Tmem115	G	A	9: 107,412,059 (GRCm39)	V128I	probably benign	Het
Trpm7	A	T	2: 126,638,256 (GRCm39)		probably null	Het
Zfp143	A	G	7: 109,687,998 (GRCm39)	D479G	probably damaging	Het
Zfp292	T	C	4: 34,839,878 (GRCm39)	T91A	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTCGGACAGCATAGAAGGC -3'
(R):5'- TCAGTTGCCTACATCGTGG -3'

Sequencing Primer
(F):5'- CATGGTCTGCATACTCTAGGC -3'
(R):5'- AGTTGCCTACATCGTGGACCTG -3'

Posted On

2016-06-06