Mutagenetix > Incidental Mutation

Incidental Mutation 'R8316:Trim80'

641706

Institutional Source

Beutler Lab

Gene Symbol

Trim80

Ensembl Gene

ENSMUSG00000070332

Gene Name

tripartite motif-containing 80

Synonyms

4933422H20Rik

MMRRC Submission

067854-MU

Accession Numbers

Essential gene?

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

Stock #

R8316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115440545-115448270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115441180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 66 (E66V)

Ref Sequence

ENSEMBL: ENSMUSP00000091442 (fasta)

Gene Model

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

AlphaFold

Q3V061

Predicted Effect

probably damaging
Transcript: ENSMUST00000093914
AA Change: E66V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091442
Gene: ENSMUSG00000070332
AA Change: E66V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	C	10: 79,067,739 (GRCm38)	C248G	probably damaging	Het
4933427D14Rik	A	T	11: 72,168,786 (GRCm38)	V693E	possibly damaging	Het
Abcc10	G	T	17: 46,327,809 (GRCm38)	L42I	probably damaging	Het
Alb	A	G	5: 90,468,590 (GRCm38)	E318G	probably benign	Het
Alkal2	G	T	12: 30,884,851 (GRCm38)	G23V	probably damaging	Het
Aox4	T	A	1: 58,254,311 (GRCm38)	C941S	possibly damaging	Het
Aqp9	A	G	9: 71,138,213 (GRCm38)	V38A	probably benign	Het
AW209491	A	G	13: 14,637,764 (GRCm38)	T401A	probably damaging	Het
Ccdc173	A	G	2: 69,781,943 (GRCm38)		probably null	Het
Ccdc57	C	T	11: 120,885,916 (GRCm38)	A553T	probably damaging	Het
Celf2	C	T	2: 6,547,103 (GRCm38)	D522N	probably benign	Het
Cmpk2	A	G	12: 26,474,137 (GRCm38)	N311S	probably damaging	Het
Dcn	T	C	10: 97,495,077 (GRCm38)	I91T	probably damaging	Het
Defa30	G	A	8: 21,134,693 (GRCm38)	V11I	probably benign	Het
Dnmt3a	T	A	12: 3,896,965 (GRCm38)	V397E	probably benign	Het
Ehhadh	G	A	16: 21,766,303 (GRCm38)	A276V	probably benign	Het
Fibcd1	T	C	2: 31,833,779 (GRCm38)		probably benign	Het
Gm8909	A	G	17: 36,168,262 (GRCm38)	S32P	unknown	Het
Gpr156	A	G	16: 37,997,974 (GRCm38)	D344G	probably null	Het
Invs	G	T	4: 48,426,199 (GRCm38)	R995S	possibly damaging	Het
Itpr3	T	C	17: 27,106,225 (GRCm38)	M1264T	possibly damaging	Het
Lzic	C	T	4: 149,488,070 (GRCm38)	A39V	probably benign	Het
March6	A	G	15: 31,482,504 (GRCm38)	L516P	possibly damaging	Het
Mecom	C	T	3: 29,957,380 (GRCm38)	E591K	probably benign	Het
Mical3	T	C	6: 120,934,983 (GRCm38)	D1916G	probably damaging	Het
Mms22l	T	C	4: 24,578,855 (GRCm38)	I738T	probably damaging	Het
Mroh2b	G	A	15: 4,951,264 (GRCm38)	W1438*	probably null	Het
Mroh8	G	T	2: 157,229,959 (GRCm38)	T542K	possibly damaging	Het
Msl1	A	T	11: 98,800,248 (GRCm38)	K416I	probably damaging	Het
Myh15	C	A	16: 49,120,018 (GRCm38)	T777N	probably damaging	Het
Olfr467	G	T	7: 107,814,823 (GRCm38)	V82F	possibly damaging	Het
Olfr482	A	G	7: 108,095,243 (GRCm38)	F109S	probably benign	Het
Olfr642	A	T	7: 104,049,622 (GRCm38)	V244E	probably damaging	Het
Olfr814	A	G	10: 129,874,022 (GRCm38)	V245A	probably damaging	Het
Pdzk1ip1	T	A	4: 115,089,126 (GRCm38)	V61D	probably benign	Het
Plcxd1	A	T	5: 110,102,314 (GRCm38)	M212L	probably benign	Het
Pld1	A	G	3: 28,024,212 (GRCm38)	T7A	probably benign	Het
Ppm1n	T	C	7: 19,278,377 (GRCm38)	D310G	probably damaging	Het
Prpf8	A	G	11: 75,499,815 (GRCm38)	N1264S	possibly damaging	Het
Pum2	T	A	12: 8,713,456 (GRCm38)	N204K	possibly damaging	Het
Recql5	G	A	11: 115,894,035 (GRCm38)	T822I	possibly damaging	Het
Rfc1	T	C	5: 65,278,734 (GRCm38)	T656A	probably benign	Het
Sacs	T	C	14: 61,189,619 (GRCm38)	Y159H	possibly damaging	Het
Sept14	A	G	5: 129,696,130 (GRCm38)	S148P	probably damaging	Het
Slco1c1	T	A	6: 141,546,914 (GRCm38)	M341K	probably benign	Het
Smok2a	T	C	17: 13,226,273 (GRCm38)	S246P	probably damaging	Het
Spata9	C	A	13: 75,977,771 (GRCm38)	S124R	possibly damaging	Het
Sri	A	G	5: 8,063,317 (GRCm38)	N103D	probably damaging	Het
Sspo	G	A	6: 48,482,688 (GRCm38)	C3327Y	probably damaging	Het
Trank1	A	G	9: 111,349,302 (GRCm38)	M353V	probably benign	Het
Txndc16	A	G	14: 45,211,184 (GRCm38)	L73P	probably damaging	Het
Ugt2b34	T	A	5: 86,891,390 (GRCm38)	M471L	probably damaging	Het
Ush2a	G	T	1: 188,446,702 (GRCm38)	V1357L	probably benign	Het
Usp15	G	T	10: 123,123,943 (GRCm38)	P855T		Het
Uspl1	C	T	5: 149,198,681 (GRCm38)	T290I	possibly damaging	Het
Zbtb2	A	C	10: 4,369,084 (GRCm38)	M314R	probably benign	Het
Zcchc2	A	G	1: 106,032,114 (GRCm38)	Y1151C	probably damaging	Het
Zmat3	T	C	3: 32,341,521 (GRCm38)	Y279C	probably damaging	Het

Other mutations in Trim80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Trim80	APN	11	115,447,665 (GRCm38)	missense	probably benign	0.21
IGL00921:Trim80	APN	11	115,447,664 (GRCm38)	missense	probably benign	0.00
IGL02948:Trim80	APN	11	115,441,593 (GRCm38)	missense	possibly damaging	0.81
IGL03037:Trim80	APN	11	115,441,593 (GRCm38)	missense	possibly damaging	0.81
R0019:Trim80	UTSW	11	115,447,942 (GRCm38)	missense	probably damaging	1.00
R0019:Trim80	UTSW	11	115,447,942 (GRCm38)	missense	probably damaging	1.00
R0409:Trim80	UTSW	11	115,441,213 (GRCm38)	missense	probably damaging	1.00
R1069:Trim80	UTSW	11	115,448,083 (GRCm38)	missense	probably damaging	1.00
R1832:Trim80	UTSW	11	115,446,793 (GRCm38)	missense	probably benign
R1952:Trim80	UTSW	11	115,441,329 (GRCm38)	nonsense	probably null
R2892:Trim80	UTSW	11	115,448,023 (GRCm38)	missense	possibly damaging	0.81
R4301:Trim80	UTSW	11	115,445,113 (GRCm38)	critical splice donor site	probably null
R4748:Trim80	UTSW	11	115,448,138 (GRCm38)	missense	possibly damaging	0.84
R4795:Trim80	UTSW	11	115,447,943 (GRCm38)	missense	probably damaging	1.00
R4819:Trim80	UTSW	11	115,447,943 (GRCm38)	missense	probably damaging	1.00
R4910:Trim80	UTSW	11	115,446,455 (GRCm38)	missense	probably damaging	0.99
R5245:Trim80	UTSW	11	115,441,572 (GRCm38)	missense	probably damaging	1.00
R5288:Trim80	UTSW	11	115,448,017 (GRCm38)	missense	probably benign	0.07
R5384:Trim80	UTSW	11	115,448,017 (GRCm38)	missense	probably benign	0.07
R5386:Trim80	UTSW	11	115,448,017 (GRCm38)	missense	probably benign	0.07
R5508:Trim80	UTSW	11	115,445,078 (GRCm38)	missense	probably benign	0.06
R5645:Trim80	UTSW	11	115,446,785 (GRCm38)	missense	probably damaging	1.00
R5785:Trim80	UTSW	11	115,446,475 (GRCm38)	nonsense	probably null
R5822:Trim80	UTSW	11	115,447,921 (GRCm38)	missense	probably damaging	0.99
R6754:Trim80	UTSW	11	115,448,174 (GRCm38)	missense	probably damaging	1.00
R6785:Trim80	UTSW	11	115,441,201 (GRCm38)	missense	probably damaging	0.99
R6788:Trim80	UTSW	11	115,448,017 (GRCm38)	missense	probably benign	0.07
R7336:Trim80	UTSW	11	115,441,216 (GRCm38)	missense	probably damaging	1.00
R8386:Trim80	UTSW	11	115,445,074 (GRCm38)	missense	probably damaging	0.99
R8955:Trim80	UTSW	11	115,440,712 (GRCm38)	missense	probably benign
R9764:Trim80	UTSW	11	115,447,931 (GRCm38)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- ACATGCCCCTGATGTGCAAG -3'
(R):5'- GTGAAGCAAGCCACCATCTC -3'

Sequencing Primer
(F):5'- TGATGTGCAAGACCATGTCC -3'
(R):5'- CCGAGGATGACGTTCTTGCAG -3'

Posted On

2020-07-28