Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02948:Trim80'

364847

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trim80

Ensembl Gene

ENSMUSG00000070332

Gene Name

tripartite motif-containing 80

Synonyms

4933422H20Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02948

Quality Score

Status

Chromosome

Chromosomal Location

115440545-115448270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115441593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 204 (W204R)

Ref Sequence

ENSEMBL: ENSMUSP00000091442 (fasta)

Gene Model

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

AlphaFold

Q3V061

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093914
AA Change: W204R

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091442
Gene: ENSMUSG00000070332
AA Change: W204R

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,094,319 (GRCm38)		probably benign	Het
Ano3	A	T	2: 110,697,018 (GRCm38)		probably benign	Het
Arpp21	T	C	9: 112,176,200 (GRCm38)	Y193C	probably damaging	Het
Atm	G	A	9: 53,453,440 (GRCm38)		probably benign	Het
Ceacam13	C	T	7: 18,011,063 (GRCm38)		probably benign	Het
Cenpi	T	A	X: 134,349,268 (GRCm38)	C599S	possibly damaging	Het
Clec7a	A	C	6: 129,465,478 (GRCm38)	D195E	possibly damaging	Het
Cnksr1	T	C	4: 134,235,106 (GRCm38)		probably null	Het
Cntn1	A	G	15: 92,246,010 (GRCm38)	T285A	probably benign	Het
Dusp4	G	T	8: 34,818,572 (GRCm38)	G329V	probably damaging	Het
Emb	C	A	13: 117,273,066 (GRCm38)		probably benign	Het
Esyt1	A	T	10: 128,519,171 (GRCm38)	S496T	probably damaging	Het
Evpl	T	C	11: 116,221,822 (GRCm38)	T1681A	probably damaging	Het
Fam131b	A	C	6: 42,320,992 (GRCm38)		probably benign	Het
Fam162b	T	C	10: 51,587,296 (GRCm38)	M92V	probably damaging	Het
Fbxw2	T	C	2: 34,805,711 (GRCm38)	*455W	probably null	Het
Gm12886	A	G	4: 121,423,037 (GRCm38)	L14P	unknown	Het
Gpc4	A	T	X: 52,074,301 (GRCm38)	V235E	probably damaging	Het
Gss	A	G	2: 155,577,621 (GRCm38)	L170P	probably damaging	Het
Hbs1l	C	T	10: 21,341,711 (GRCm38)		probably benign	Het
Hhatl	T	C	9: 121,789,791 (GRCm38)	M92V	probably benign	Het
Hhla1	A	T	15: 65,942,693 (GRCm38)	L194H	probably damaging	Het
Hivep2	C	A	10: 14,129,013 (GRCm38)	R452S	probably benign	Het
Homer2	C	A	7: 81,649,645 (GRCm38)	W24L	probably damaging	Het
Lhcgr	A	T	17: 88,742,622 (GRCm38)	L492H	probably damaging	Het
Lrba	C	A	3: 86,310,384 (GRCm38)		probably null	Het
Lrp2	G	T	2: 69,487,837 (GRCm38)	P2090Q	probably damaging	Het
Lyl1	C	T	8: 84,702,671 (GRCm38)	P3L	possibly damaging	Het
Madd	T	A	2: 91,142,827 (GRCm38)	M1497L	probably benign	Het
Naprt	C	T	15: 75,892,357 (GRCm38)	R336Q	probably damaging	Het
Nars	A	G	18: 64,505,195 (GRCm38)	C266R	possibly damaging	Het
Olfr1420	T	A	19: 11,896,781 (GRCm38)	Y253*	probably null	Het
Olfr175-ps1	T	A	16: 58,824,088 (GRCm38)	Q207L	probably benign	Het
Pard3	A	T	8: 127,306,494 (GRCm38)	T190S	probably benign	Het
Pstpip2	A	G	18: 77,854,807 (GRCm38)	N86S	probably benign	Het
Ptgfrn	T	C	3: 101,072,819 (GRCm38)	T402A	probably benign	Het
Rnf130	T	C	11: 50,052,771 (GRCm38)		probably benign	Het
Ropn1l	T	C	15: 31,451,179 (GRCm38)	D53G	possibly damaging	Het
Rps6ka2	G	A	17: 7,254,450 (GRCm38)		probably null	Het
Rtn2	T	C	7: 19,293,111 (GRCm38)	S17P	probably damaging	Het
Shank2	T	C	7: 144,409,636 (GRCm38)	V327A	probably benign	Het
Slc22a16	T	G	10: 40,573,962 (GRCm38)	Y131*	probably null	Het
Slc28a2	T	A	2: 122,457,977 (GRCm38)	M583K	possibly damaging	Het
Slco1a6	G	T	6: 142,133,235 (GRCm38)		probably null	Het
Slfn8	T	A	11: 83,003,252 (GRCm38)	I854F	probably damaging	Het
Strip1	T	C	3: 107,613,266 (GRCm38)	R823G	probably benign	Het
Stxbp2	A	T	8: 3,641,971 (GRCm38)	I538F	probably benign	Het
Tcl1b5	C	T	12: 105,179,014 (GRCm38)	T79M	probably benign	Het
Tmem104	G	T	11: 115,197,296 (GRCm38)	A36S	probably damaging	Het
Trim55	T	A	3: 19,670,952 (GRCm38)	L211Q	probably damaging	Het
Ttbk1	G	A	17: 46,446,330 (GRCm38)	T1126I	probably benign	Het
Ubqln2	C	T	X: 153,499,696 (GRCm38)	Q415*	probably null	Het
Unc13a	C	T	8: 71,650,549 (GRCm38)	R931H	possibly damaging	Het
Utp4	T	A	8: 106,894,641 (GRCm38)	S17T	probably benign	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
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
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

Posted On

2015-12-18