Mutagenetix > Incidental Mutation

Incidental Mutation 'R3832:Trim47'

274077

Institutional Source

Beutler Lab

Gene Symbol

Trim47

Ensembl Gene

ENSMUSG00000020773

Gene Name

tripartite motif-containing 47

Synonyms

2210023F24Rik

MMRRC Submission

040887-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115996576-116001061 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115998783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 279 (T279A)

Ref Sequence

ENSEMBL: ENSMUSP00000102049 (fasta)

Gene Model

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

AlphaFold

Q8C0E3

Predicted Effect

probably benign
Transcript: ENSMUST00000021120
AA Change: T279A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021120
Gene: ENSMUSG00000020773
AA Change: T279A

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: T279A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102049
Gene: ENSMUSG00000020773
AA Change: T279A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	C	15: 94,229,339 (GRCm39)	C927G	probably damaging	Het
Afdn	T	A	17: 14,116,436 (GRCm39)	D190E	probably benign	Het
Aldh1a7	T	C	19: 20,685,602 (GRCm39)	Y316C	probably damaging	Het
Arhgef38	T	C	3: 132,912,686 (GRCm39)	R118G	possibly damaging	Het
Bcar3	A	G	3: 122,220,298 (GRCm39)	D65G	probably damaging	Het
Cacna1i	T	C	15: 80,240,388 (GRCm39)	F370S	probably damaging	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Cblc	T	C	7: 19,526,097 (GRCm39)	M238V	probably damaging	Het
Ccdc3	A	G	2: 5,233,953 (GRCm39)	N259S	probably benign	Het
Cep55	A	G	19: 38,041,560 (GRCm39)		probably benign	Het
Col6a1	T	C	10: 76,546,951 (GRCm39)	D757G	unknown	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Erich3	G	A	3: 154,467,998 (GRCm39)	V817M	probably damaging	Het
Gdf6	T	C	4: 9,844,568 (GRCm39)	S31P	probably benign	Het
Gtsf1	T	C	15: 103,333,902 (GRCm39)	I25V	probably damaging	Het
Hephl1	T	C	9: 14,981,044 (GRCm39)	E796G	probably damaging	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Klhl28	C	A	12: 64,998,195 (GRCm39)	G433V	probably damaging	Het
Lipn	T	C	19: 34,046,933 (GRCm39)		probably null	Het
Lypd10	T	A	7: 24,413,712 (GRCm39)	S243T	probably benign	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Or14c44	A	T	7: 86,062,401 (GRCm39)	Y277F	probably damaging	Het
Or14j5	T	C	17: 38,162,071 (GRCm39)	V196A	probably benign	Het
Otud1	G	C	2: 19,662,951 (GRCm39)	A27P	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,479 (GRCm39)	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pdzd7	A	T	19: 45,028,693 (GRCm39)	V150E	probably damaging	Het
Peak1	T	C	9: 56,165,667 (GRCm39)	S754G	probably benign	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Phlpp1	G	A	1: 106,320,327 (GRCm39)	E1441K	probably damaging	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pikfyve	G	A	1: 65,283,579 (GRCm39)	V739I	probably damaging	Het
Plcg1	T	G	2: 160,596,357 (GRCm39)	M651R	possibly damaging	Het
Prex2	T	C	1: 11,226,588 (GRCm39)		probably benign	Het
Pus3	G	C	9: 35,477,874 (GRCm39)	G369R	probably benign	Het
Rab11fip1	G	A	8: 27,642,774 (GRCm39)	T675I	probably benign	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Slc39a8	T	A	3: 135,554,894 (GRCm39)	C113S	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Snd1	G	T	6: 28,531,403 (GRCm39)		probably benign	Het
Tbc1d9	A	G	8: 83,960,292 (GRCm39)	S182G	probably damaging	Het
Tecta	A	C	9: 42,250,329 (GRCm39)	F1816C	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Ttll4	A	G	1: 74,725,550 (GRCm39)	K653E	probably damaging	Het
Vcam1	T	C	3: 115,908,140 (GRCm39)	T641A	possibly damaging	Het
Vmn1r16	A	G	6: 57,300,212 (GRCm39)	F137L	probably benign	Het
Vmn2r17	T	A	5: 109,576,262 (GRCm39)	W378R	probably damaging	Het
Zfp777	T	C	6: 48,021,149 (GRCm39)	T158A	probably benign	Het
Zp1	T	C	19: 10,893,888 (GRCm39)	D439G	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCTGACTGAATCCGCCTC -3'
(R):5'- ACAAGCTCTCACTGTGGTG -3'

Sequencing Primer
(F):5'- TGACTGAATCCGCCTCTGGAAC -3'
(R):5'- AAGCAGGAACACCTTGTTTCCTG -3'

Posted On

2015-04-02