Mutagenetix > Incidental Mutation

Incidental Mutation 'R5822:Trim80'

449991

Institutional Source

Beutler Lab

Gene Symbol

Trim80

Ensembl Gene

ENSMUSG00000070332

Gene Name

tripartite motif-containing 80

Synonyms

4933422H20Rik

MMRRC Submission

044052-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R5822 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

115331371-115339094 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115338747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 526 (R526C)

Ref Sequence

ENSEMBL: ENSMUSP00000091442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093914]

AlphaFold

Q3V061

Predicted Effect

probably damaging
Transcript: ENSMUST00000093914
AA Change: R526C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091442
Gene: ENSMUSG00000070332
AA Change: R526C

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
RING	71	114	4.48e-7	SMART
Blast:BBOX	154	202	7e-22	BLAST
Pfam:zf-B_box	207	246	2.2e-10	PFAM
Blast:PRY	441	496	2e-18	BLAST
Pfam:SPRY	499	621	3.9e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175355

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8a	C	T	11: 109,921,705 (GRCm39)	E1450K	probably damaging	Het
B4galnt2	T	C	11: 95,756,985 (GRCm39)	Y482C	probably damaging	Het
Bud23	A	G	5: 135,092,775 (GRCm39)	F9L	probably damaging	Het
Cacna1s	A	T	1: 136,039,816 (GRCm39)	E1214V	probably damaging	Het
Cdh20	T	C	1: 104,861,823 (GRCm39)	M1T	probably null	Het
Chkb	T	C	15: 89,313,715 (GRCm39)	E30G	probably benign	Het
Crp	A	C	1: 172,525,635 (GRCm39)		probably benign	Het
Cyp11b1	T	C	15: 74,708,670 (GRCm39)	R375G	probably null	Het
Ddx11	C	T	17: 66,436,976 (GRCm39)	S90L	probably benign	Het
Flnc	A	C	6: 29,459,429 (GRCm39)	I2510L	probably damaging	Het
Ftdc1	C	A	16: 58,436,075 (GRCm39)		probably null	Het
Fyb1	T	A	15: 6,692,707 (GRCm39)		probably benign	Het
Gbp3	C	T	3: 142,272,239 (GRCm39)	P247L	probably benign	Het
Ggn	C	T	7: 28,871,981 (GRCm39)	P454S	probably damaging	Het
Herc1	T	A	9: 66,352,894 (GRCm39)	S2127T	probably benign	Het
Ipo11	A	G	13: 106,984,926 (GRCm39)		probably benign	Het
Kcnh7	G	A	2: 62,546,582 (GRCm39)	R1000W	probably benign	Het
Kdm5b	A	T	1: 134,516,511 (GRCm39)		probably benign	Het
Klc3	C	T	7: 19,129,724 (GRCm39)		probably null	Het
Lst1	A	T	17: 35,407,359 (GRCm39)	M3K	unknown	Het
Madd	C	T	2: 90,982,878 (GRCm39)	R1355Q	probably damaging	Het
Map3k10	A	G	7: 27,356,159 (GRCm39)	L920P	probably damaging	Het
Mdga2	A	G	12: 66,702,109 (GRCm39)	V423A	probably damaging	Het
Mogat2	T	C	7: 98,869,112 (GRCm39)	D302G	possibly damaging	Het
Nkapl	A	C	13: 21,652,593 (GRCm39)	S7A	unknown	Het
Npas2	A	G	1: 39,386,647 (GRCm39)	S639G	probably benign	Het
Nr1h5	T	G	3: 102,856,644 (GRCm39)	H260P	probably damaging	Het
Or2g25	T	C	17: 37,971,122 (GRCm39)	Y34C	probably damaging	Het
Or2t49	A	T	11: 58,392,464 (GRCm39)	L306Q	possibly damaging	Het
Or4c35	T	C	2: 89,808,787 (GRCm39)	S222P	probably damaging	Het
Or7a36	C	T	10: 78,820,023 (GRCm39)	T133I	possibly damaging	Het
Or8a1b	T	C	9: 37,623,087 (GRCm39)	M163V	probably benign	Het
Pan2	T	C	10: 128,156,249 (GRCm39)	L1142P	probably damaging	Het
Pdik1l	C	T	4: 134,014,474 (GRCm39)	E11K	possibly damaging	Het
Ppp1r15a	A	G	7: 45,172,727 (GRCm39)	V555A	probably damaging	Het
Ppp6c	G	A	2: 39,090,064 (GRCm39)	Q81*	probably null	Het
Pramel18	A	G	4: 101,767,440 (GRCm39)	M230V	probably damaging	Het
Ptprz1	A	T	6: 23,001,444 (GRCm39)	Y1178F	probably benign	Het
Relch	G	A	1: 105,646,581 (GRCm39)	V660M	probably damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rims2	T	A	15: 39,339,886 (GRCm39)	L860Q	probably damaging	Het
Sdr39u1	A	G	14: 56,135,196 (GRCm39)	V249A	probably benign	Het
Serhl	T	C	15: 83,000,528 (GRCm39)	V305A	probably benign	Het
Slc5a11	T	C	7: 122,851,654 (GRCm39)	I201T	probably damaging	Het
Stk32a	A	T	18: 43,446,552 (GRCm39)	E334V	probably benign	Het
Tmem217	A	G	17: 29,745,529 (GRCm39)	L67P	probably damaging	Het
Tnnt1	A	T	7: 4,519,345 (GRCm39)	L12*	probably null	Het
Unc5b	A	T	10: 60,608,306 (GRCm39)	F635I	possibly damaging	Het
Utp20	T	G	10: 88,653,147 (GRCm39)	N311T	probably benign	Het
Zfp276	A	G	8: 123,982,457 (GRCm39)	T74A	probably benign	Het

Other mutations in Trim80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Trim80	APN	11	115,338,491 (GRCm39)	missense	probably benign	0.21
IGL00921:Trim80	APN	11	115,338,490 (GRCm39)	missense	probably benign	0.00
IGL02948:Trim80	APN	11	115,332,419 (GRCm39)	missense	possibly damaging	0.81
IGL03037:Trim80	APN	11	115,332,419 (GRCm39)	missense	possibly damaging	0.81
R0019:Trim80	UTSW	11	115,338,768 (GRCm39)	missense	probably damaging	1.00
R0019:Trim80	UTSW	11	115,338,768 (GRCm39)	missense	probably damaging	1.00
R0409:Trim80	UTSW	11	115,332,039 (GRCm39)	missense	probably damaging	1.00
R1069:Trim80	UTSW	11	115,338,909 (GRCm39)	missense	probably damaging	1.00
R1832:Trim80	UTSW	11	115,337,619 (GRCm39)	missense	probably benign
R1952:Trim80	UTSW	11	115,332,155 (GRCm39)	nonsense	probably null
R2892:Trim80	UTSW	11	115,338,849 (GRCm39)	missense	possibly damaging	0.81
R4301:Trim80	UTSW	11	115,335,939 (GRCm39)	critical splice donor site	probably null
R4748:Trim80	UTSW	11	115,338,964 (GRCm39)	missense	possibly damaging	0.84
R4795:Trim80	UTSW	11	115,338,769 (GRCm39)	missense	probably damaging	1.00
R4819:Trim80	UTSW	11	115,338,769 (GRCm39)	missense	probably damaging	1.00
R4910:Trim80	UTSW	11	115,337,281 (GRCm39)	missense	probably damaging	0.99
R5245:Trim80	UTSW	11	115,332,398 (GRCm39)	missense	probably damaging	1.00
R5288:Trim80	UTSW	11	115,338,843 (GRCm39)	missense	probably benign	0.07
R5384:Trim80	UTSW	11	115,338,843 (GRCm39)	missense	probably benign	0.07
R5386:Trim80	UTSW	11	115,338,843 (GRCm39)	missense	probably benign	0.07
R5508:Trim80	UTSW	11	115,335,904 (GRCm39)	missense	probably benign	0.06
R5645:Trim80	UTSW	11	115,337,611 (GRCm39)	missense	probably damaging	1.00
R5785:Trim80	UTSW	11	115,337,301 (GRCm39)	nonsense	probably null
R6754:Trim80	UTSW	11	115,339,000 (GRCm39)	missense	probably damaging	1.00
R6785:Trim80	UTSW	11	115,332,027 (GRCm39)	missense	probably damaging	0.99
R6788:Trim80	UTSW	11	115,338,843 (GRCm39)	missense	probably benign	0.07
R7336:Trim80	UTSW	11	115,332,042 (GRCm39)	missense	probably damaging	1.00
R8316:Trim80	UTSW	11	115,332,006 (GRCm39)	missense	probably damaging	1.00
R8386:Trim80	UTSW	11	115,335,900 (GRCm39)	missense	probably damaging	0.99
R8955:Trim80	UTSW	11	115,331,538 (GRCm39)	missense	probably benign
R9764:Trim80	UTSW	11	115,338,757 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- AACTTGGGCATCCTTCTGGAG -3'
(R):5'- ACTGCTTGAGTGTGAGCGAG -3'

Sequencing Primer
(F):5'- TTCTGGAGCCCTCGACCAC -3'
(R):5'- TAGAGGAGGTTCACGTCGC -3'

Posted On

2016-12-20