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: 0.054) question?

Stock #

R4819 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115331371-115339094 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115338769 bp (GRCm39)

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: 9,240,421 (GRCm39)	N761K	possibly damaging	Het
Adgrf3	T	A	5: 30,403,442 (GRCm39)	L444F	possibly damaging	Het
Akap8	G	A	17: 32,531,279 (GRCm39)	R378W	probably damaging	Het
Amotl2	C	T	9: 102,607,270 (GRCm39)	R693W	probably damaging	Het
As3mt	G	T	19: 46,695,968 (GRCm39)		probably benign	Het
Atp6v1e2	A	G	17: 87,251,966 (GRCm39)	V144A	probably benign	Het
Bfar	C	T	16: 13,505,331 (GRCm39)	Q114*	probably null	Het
Casd1	C	T	6: 4,621,225 (GRCm39)	A261V	probably damaging	Het
Cd177	A	T	7: 24,451,696 (GRCm39)	I440K	probably damaging	Het
Cfap54	G	T	10: 92,672,339 (GRCm39)	Y2910*	probably null	Het
Csl	A	G	10: 99,593,944 (GRCm39)	F374L	possibly damaging	Het
Dctn1	G	A	6: 83,167,501 (GRCm39)	R275H	probably damaging	Het
Derl3	A	G	10: 75,729,713 (GRCm39)		probably null	Het
Dst	A	G	1: 34,007,916 (GRCm39)	I117V	probably benign	Het
Edc3	T	A	9: 57,655,680 (GRCm39)	C477S	possibly damaging	Het
Efs	T	C	14: 55,154,610 (GRCm39)	E450G	probably damaging	Het
Fcrla	T	A	1: 170,748,508 (GRCm39)	I212F	probably damaging	Het
Fsip2	A	G	2: 82,818,786 (GRCm39)	I4840V	probably benign	Het
Gpam	T	A	19: 55,066,773 (GRCm39)	I581F	probably benign	Het
Greb1l	A	G	18: 10,458,358 (GRCm39)	D45G	probably damaging	Het
Heca	A	G	10: 17,783,820 (GRCm39)	Y478H	probably damaging	Het
Hspa9	C	T	18: 35,072,441 (GRCm39)	M561I	probably damaging	Het
Hyal6	T	A	6: 24,734,965 (GRCm39)	Y299*	probably null	Het
Iho1	A	G	9: 108,283,877 (GRCm39)	V189A	probably benign	Het
Ik	T	A	18: 36,886,310 (GRCm39)		probably null	Het
Khsrp	A	G	17: 57,330,360 (GRCm39)	S582P	possibly damaging	Het
Kif18a	A	G	2: 109,122,471 (GRCm39)	D182G	probably damaging	Het
Krt1c	T	C	15: 101,719,979 (GRCm39)	T564A	unknown	Het
Lig4	A	G	8: 10,021,885 (GRCm39)	S632P	probably benign	Het
Med1	C	T	11: 98,046,258 (GRCm39)		probably benign	Het
Mgat3	T	A	15: 80,096,550 (GRCm39)	I459N	probably damaging	Het
Mkln1	A	T	6: 31,451,421 (GRCm39)	Q454L	probably benign	Het
Mn1	A	G	5: 111,567,803 (GRCm39)	E591G	possibly damaging	Het
Myo5c	T	A	9: 75,199,484 (GRCm39)	L1364Q	probably damaging	Het
Oas1d	T	C	5: 121,053,780 (GRCm39)	V80A	probably damaging	Het
Obscn	A	T	11: 58,929,674 (GRCm39)	D5180E	probably damaging	Het
Pax6	G	A	2: 105,522,622 (GRCm39)		probably null	Het
Pcdh15	A	C	10: 74,160,221 (GRCm39)	N446T	probably damaging	Het
Pcnx2	A	T	8: 126,581,969 (GRCm39)	F922L	probably benign	Het
Ptpn4	G	T	1: 119,587,580 (GRCm39)	T921K	probably benign	Het
Selenov	A	G	7: 27,989,746 (GRCm39)		probably null	Het
Tmem100	A	G	11: 89,926,271 (GRCm39)	T33A	probably benign	Het
Tmem59	C	T	4: 107,044,878 (GRCm39)	Q66*	probably null	Het
Trav21-dv12	T	A	14: 54,114,070 (GRCm39)	Y63*	probably null	Het
Trim66	G	T	7: 109,056,793 (GRCm39)	H1121Q	probably damaging	Het
Ttc17	G	A	2: 94,194,955 (GRCm39)	P520L	probably damaging	Het
Ttn	A	T	2: 76,622,093 (GRCm39)	V15483E	probably damaging	Het
Vinac1	G	T	2: 128,882,721 (GRCm39)	N98K	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfhx4	C	A	3: 5,468,974 (GRCm39)	T3069K	probably benign	Het
Zfp281	A	G	1: 136,553,448 (GRCm39)	H142R	probably benign	Het
Zfp462	G	T	4: 55,060,044 (GRCm39)	R1190L	probably damaging	Het
Zfp935	T	A	13: 62,602,231 (GRCm39)	H323L	probably damaging	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
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
R5822:Trim80	UTSW	11	115,338,747 (GRCm39)	missense	probably damaging	0.99
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'- GAACTTGGGCATCCTTCTGG -3'
(R):5'- ATACTGCTTGAGTGTGAGCG -3'

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

Posted On

2016-02-04