Mutagenetix > Incidental Mutation

Incidental Mutation 'R4819:Trim80'

370070

Institutional Source

Beutler Lab

Gene Symbol

Trim80

Ensembl Gene

ENSMUSG00000070332

Gene Name

tripartite motif-containing 80

Synonyms

4933422H20Rik

MMRRC Submission

042000-MU

Accession Numbers

Essential gene?

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

Stock #

R4819 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115440545-115448270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115447943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 533 (Y533C)

Ref Sequence

ENSEMBL: ENSMUSP00000091442 (fasta)

Gene Model

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

AlphaFold

Q3V061

Predicted Effect

probably damaging
Transcript: ENSMUST00000093914
AA Change: Y533C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091442
Gene: ENSMUSG00000070332
AA Change: Y533C

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: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,290,421 (GRCm38)	N761K	possibly damaging	Het
Adgrf3	T	A	5: 30,198,444 (GRCm38)	L444F	possibly damaging	Het
Akap8	G	A	17: 32,312,305 (GRCm38)	R378W	probably damaging	Het
Amotl2	C	T	9: 102,730,071 (GRCm38)	R693W	probably damaging	Het
As3mt	G	T	19: 46,707,529 (GRCm38)		probably benign	Het
Atp6v1e2	A	G	17: 86,944,538 (GRCm38)	V144A	probably benign	Het
Bfar	C	T	16: 13,687,467 (GRCm38)	Q114*	probably null	Het
Casd1	C	T	6: 4,621,225 (GRCm38)	A261V	probably damaging	Het
Ccdc36	A	G	9: 108,406,678 (GRCm38)	V189A	probably benign	Het
Cd177	A	T	7: 24,752,271 (GRCm38)	I440K	probably damaging	Het
Cfap54	G	T	10: 92,836,477 (GRCm38)	Y2910*	probably null	Het
Csl	A	G	10: 99,758,082 (GRCm38)	F374L	possibly damaging	Het
Dctn1	G	A	6: 83,190,519 (GRCm38)	R275H	probably damaging	Het
Derl3	A	G	10: 75,893,879 (GRCm38)		probably null	Het
Dst	A	G	1: 33,968,835 (GRCm38)	I117V	probably benign	Het
Edc3	T	A	9: 57,748,397 (GRCm38)	C477S	possibly damaging	Het
Efs	T	C	14: 54,917,153 (GRCm38)	E450G	probably damaging	Het
Fcrla	T	A	1: 170,920,939 (GRCm38)	I212F	probably damaging	Het
Fsip2	A	G	2: 82,988,442 (GRCm38)	I4840V	probably benign	Het
Gm14025	G	T	2: 129,040,801 (GRCm38)	N98K	probably damaging	Het
Gpam	T	A	19: 55,078,341 (GRCm38)	I581F	probably benign	Het
Greb1l	A	G	18: 10,458,358 (GRCm38)	D45G	probably damaging	Het
Heca	A	G	10: 17,908,072 (GRCm38)	Y478H	probably damaging	Het
Hspa9	C	T	18: 34,939,388 (GRCm38)	M561I	probably damaging	Het
Hyal6	T	A	6: 24,734,966 (GRCm38)	Y299*	probably null	Het
Ik	T	A	18: 36,753,257 (GRCm38)		probably null	Het
Khsrp	A	G	17: 57,023,360 (GRCm38)	S582P	possibly damaging	Het
Kif18a	A	G	2: 109,292,126 (GRCm38)	D182G	probably damaging	Het
Krt2	T	C	15: 101,811,544 (GRCm38)	T564A	unknown	Het
Lig4	A	G	8: 9,971,885 (GRCm38)	S632P	probably benign	Het
Med1	C	T	11: 98,155,432 (GRCm38)		probably benign	Het
Mgat3	T	A	15: 80,212,349 (GRCm38)	I459N	probably damaging	Het
Mkln1	A	T	6: 31,474,486 (GRCm38)	Q454L	probably benign	Het
Mn1	A	G	5: 111,419,937 (GRCm38)	E591G	possibly damaging	Het
Myo5c	T	A	9: 75,292,202 (GRCm38)	L1364Q	probably damaging	Het
Oas1d	T	C	5: 120,915,717 (GRCm38)	V80A	probably damaging	Het
Obscn	A	T	11: 59,038,848 (GRCm38)	D5180E	probably damaging	Het
Pax6	G	A	2: 105,692,277 (GRCm38)		probably null	Het
Pcdh15	A	C	10: 74,324,389 (GRCm38)	N446T	probably damaging	Het
Pcnx2	A	T	8: 125,855,230 (GRCm38)	F922L	probably benign	Het
Ptpn4	G	T	1: 119,659,850 (GRCm38)	T921K	probably benign	Het
Selenov	A	G	7: 28,290,321 (GRCm38)		probably null	Het
Tmem100	A	G	11: 90,035,445 (GRCm38)	T33A	probably benign	Het
Tmem59	C	T	4: 107,187,681 (GRCm38)	Q66*	probably null	Het
Trav21-dv12	T	A	14: 53,876,613 (GRCm38)	Y63*	probably null	Het
Trim66	G	T	7: 109,457,586 (GRCm38)	H1121Q	probably damaging	Het
Ttc17	G	A	2: 94,364,610 (GRCm38)	P520L	probably damaging	Het
Ttn	A	T	2: 76,791,749 (GRCm38)	V15483E	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744 (GRCm38)		probably null	Het
Zfhx4	C	A	3: 5,403,914 (GRCm38)	T3069K	probably benign	Het
Zfp281	A	G	1: 136,625,710 (GRCm38)	H142R	probably benign	Het
Zfp462	G	T	4: 55,060,044 (GRCm38)	R1190L	probably damaging	Het
Zfp935	T	A	13: 62,454,417 (GRCm38)	H323L	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
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
R8316:Trim80	UTSW	11	115,441,180 (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'- GAACTTGGGCATCCTTCTGG -3'
(R):5'- ATACTGCTTGAGTGTGAGCG -3'

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

Posted On

2016-02-04