Mutagenetix > Incidental Mutations

Incidental Mutation 'R0840:Trim5'

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77111

Institutional Source

Beutler Lab

Gene Symbol

Trim5

Ensembl Gene

ENSMUSG00000060441

Gene Name

tripartite motif-containing 5

Synonyms

MMRRC Submission

039019-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104263386-104288094 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104265771 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 364 (W364R)

Ref Sequence

ENSEMBL: ENSMUSP00000095781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051795] [ENSMUST00000060315] [ENSMUST00000098179] [ENSMUST00000106848] [ENSMUST00000106849]

Predicted Effect

probably damaging
Transcript: ENSMUST00000051795
AA Change: W364R

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

SMART Domains

Protein: ENSMUSP00000050084
Gene: ENSMUSG00000060441
AA Change: W364R

Domain	Start	End	E-Value	Type
RING	15	58	3.64e-7	SMART
BBOX	91	132	4.83e-12	SMART
coiled coil region	172	232	N/A	INTRINSIC
Pfam:SPRY	349	485	9.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060315

SMART Domains

Protein: ENSMUSP00000055058
Gene: ENSMUSG00000056144

Domain	Start	End	E-Value	Type
RING	15	58	6.79e-7	SMART
BBOX	91	132	1.08e-9	SMART
coiled coil region	194	238	N/A	INTRINSIC
Blast:PRY	299	343	2e-21	BLAST
Pfam:SPRY	347	474	1e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098179
AA Change: W364R

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

SMART Domains

Protein: ENSMUSP00000095781
Gene: ENSMUSG00000060441
AA Change: W364R

Domain	Start	End	E-Value	Type
RING	15	58	3.64e-7	SMART
BBOX	91	132	4.83e-12	SMART
Pfam:SPRY	351	493	1.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106848

SMART Domains

Protein: ENSMUSP00000102461
Gene: ENSMUSG00000056144

Domain	Start	End	E-Value	Type
RING	15	58	6.79e-7	SMART
BBOX	91	132	1.08e-9	SMART
coiled coil region	194	238	N/A	INTRINSIC
Blast:PRY	299	343	2e-21	BLAST
Pfam:SPRY	345	484	6.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106849

SMART Domains

Protein: ENSMUSP00000102462
Gene: ENSMUSG00000056144

Domain	Start	End	E-Value	Type
RING	15	58	6.79e-7	SMART
BBOX	91	132	1.08e-9	SMART
coiled coil region	194	238	N/A	INTRINSIC
Blast:PRY	299	343	2e-21	BLAST
Pfam:SPRY	345	484	6.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217156

Meta Mutation Damage Score

0.9423

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810020O05Rik	G	T	6: 87,680,278		noncoding transcript	Het
2700049A03Rik	C	G	12: 71,158,883	Q434E	probably benign	Het
A930011G23Rik	T	C	5: 99,234,688	T234A	probably benign	Het
Acot5	G	A	12: 84,075,840	W399*	probably null	Het
Adra1a	A	G	14: 66,727,710	E383G	possibly damaging	Het
Ahnak	T	A	19: 9,005,063	I1237N	probably damaging	Het
Bsg	A	G	10: 79,709,685	T28A	probably damaging	Het
Cacna1i	A	T	15: 80,358,949	I436F	possibly damaging	Het
Cd109	T	C	9: 78,664,330	I417T	probably benign	Het
Cep295	A	T	9: 15,334,315	D948E	probably benign	Het
Clcn3	C	A	8: 60,929,154	V467F	probably benign	Het
Cntnap3	T	C	13: 64,787,910	S380G	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dll4	T	A	2: 119,326,485	N79K	probably benign	Het
Ep300	A	T	15: 81,644,933	N1558I	unknown	Het
Fblim1	A	G	4: 141,581,009	F330L	possibly damaging	Het
Fbxo46	T	A	7: 19,137,148	M564K	possibly damaging	Het
Fnip1	T	A	11: 54,493,181		probably benign	Het
Foxl2	A	T	9: 98,955,931	K91*	probably null	Het
Gapvd1	C	A	2: 34,729,113	V83F	probably benign	Het
Guk1	G	A	11: 59,185,095	R146C	probably damaging	Het
Irf8	G	A	8: 120,753,481	G153S	probably benign	Het
Kcnu1	T	A	8: 25,913,684	M1K	probably null	Het
Krt32	G	A	11: 100,081,242	P427S	probably benign	Het
Lrp12	A	G	15: 39,876,158	S529P	probably damaging	Het
Mettl22	T	C	16: 8,482,157	V134A	probably damaging	Het
Morc2b	G	T	17: 33,136,112	H895Q	probably benign	Het
Nrros	T	C	16: 32,143,423	D556G	probably damaging	Het
Nrxn3	A	G	12: 90,331,793	S1367G	possibly damaging	Het
Olfr129	A	G	17: 38,055,572	F7S	probably benign	Het
Olfr504	A	T	7: 108,565,616	S60T	probably benign	Het
Pcnx3	T	A	19: 5,685,701		probably null	Het
Pgap2	A	T	7: 102,237,448	M226L	probably damaging	Het
Pik3c2g	A	G	6: 139,896,072	I616M	probably damaging	Het
Pisd	A	G	5: 32,737,312	I380T	probably damaging	Het
Pkhd1	T	C	1: 20,350,521	I2454V	probably damaging	Het
Plpp2	A	G	10: 79,527,544	I151T	probably benign	Het
Polr3a	G	A	14: 24,452,200	T1295I	possibly damaging	Het
Pot1a	T	C	6: 25,748,284		probably benign	Het
Prpf39	T	G	12: 65,048,206	N219K	probably benign	Het
Rnf17	T	A	14: 56,475,447	N790K	probably damaging	Het
Slit3	C	T	11: 35,623,436		probably benign	Het
Stx1a	T	A	5: 135,041,234		probably benign	Het
Tenm3	C	A	8: 48,335,742	V690F	probably damaging	Het
Tmcc3	A	G	10: 94,578,771	I143V	probably benign	Het
Tmem41b	G	A	7: 109,981,049	S36F	probably damaging	Het
Ttn	T	C	2: 76,786,811	Y16403C	probably damaging	Het
Vps8	T	C	16: 21,456,321	S210P	probably damaging	Het
Zbtb3	T	A	19: 8,803,457	S145T	possibly damaging	Het
Zfp882	T	A	8: 71,914,686	C452*	probably null	Het

Other mutations in Trim5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01702:Trim5	APN	7	104279431	missense	probably damaging	1.00
IGL02165:Trim5	APN	7	104279359	missense	probably damaging	1.00
IGL02576:Trim5	APN	7	104278417	missense	probably damaging	0.97
IGL02660:Trim5	APN	7	104266218	missense	probably damaging	0.96
IGL02732:Trim5	APN	7	104278465	missense	probably benign	0.02
R0278:Trim5	UTSW	7	104279675	missense	probably benign	0.00
R0373:Trim5	UTSW	7	104265684	missense	probably benign	0.00
R0508:Trim5	UTSW	7	104265604	missense	probably null	0.98
R0947:Trim5	UTSW	7	104265751	missense	probably damaging	1.00
R1432:Trim5	UTSW	7	104279519	missense	probably benign	0.04
R1432:Trim5	UTSW	7	104279521	missense	probably benign
R1770:Trim5	UTSW	7	104276661	missense	probably damaging	1.00
R1782:Trim5	UTSW	7	104265816	splice site	probably null
R1988:Trim5	UTSW	7	104265621	missense	probably damaging	0.99
R2140:Trim5	UTSW	7	104276791	nonsense	probably null
R3110:Trim5	UTSW	7	104279638	missense	probably damaging	1.00
R3112:Trim5	UTSW	7	104279638	missense	probably damaging	1.00
R3893:Trim5	UTSW	7	104276835	missense	probably damaging	0.98
R3948:Trim5	UTSW	7	104266520	nonsense	probably null
R4114:Trim5	UTSW	7	104265740	missense	probably damaging	0.99
R4249:Trim5	UTSW	7	104276815	missense	possibly damaging	0.83
R4352:Trim5	UTSW	7	104276808	missense	probably damaging	1.00
R4595:Trim5	UTSW	7	104265432	missense	probably damaging	1.00
R5057:Trim5	UTSW	7	104265423	missense	probably damaging	1.00
R5583:Trim5	UTSW	7	104276835	missense	probably damaging	0.98
R5861:Trim5	UTSW	7	104279519	missense	probably benign	0.04
R5861:Trim5	UTSW	7	104279521	missense	probably benign
R7027:Trim5	UTSW	7	104265668	missense	probably benign	0.00
R7078:Trim5	UTSW	7	104278474	missense	possibly damaging	0.85
R7150:Trim5	UTSW	7	104276810	missense	probably damaging	0.96
R7657:Trim5	UTSW	7	104276677	missense	possibly damaging	0.51
R7660:Trim5	UTSW	7	104279362	missense	probably damaging	1.00
R7737:Trim5	UTSW	7	104279564	missense	probably damaging	1.00
R7821:Trim5	UTSW	7	104278426	missense	probably benign	0.32
R7861:Trim5	UTSW	7	104266468	critical splice donor site	probably null
R8167:Trim5	UTSW	7	104278423	missense	probably damaging	0.99
R8220:Trim5	UTSW	7	104276826	missense	probably damaging	0.96
R8296:Trim5	UTSW	7	104265786	missense	probably damaging	1.00
Z1088:Trim5	UTSW	7	104266225	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CTTGCCTGTGAAAGGACACTCCTC -3'
(R):5'- TGCACAAAGTTCTCTCCAGTGCC -3'

Sequencing Primer
(F):5'- TGTGAAAGGACACTCCTCAAAAG -3'
(R):5'- CGTCACAGATAAGGATGTTTCCTG -3'

Posted On

2013-10-16