Mutagenetix > Incidental Mutation

Incidental Mutation 'R5645:Trim80'

441088

Institutional Source

Beutler Lab

Gene Symbol

Trim80

Ensembl Gene

ENSMUSG00000070332

Gene Name

tripartite motif-containing 80

Synonyms

4933422H20Rik

MMRRC Submission

043293-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5645 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115440545-115448270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115446785 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 428 (L428Q)

Ref Sequence

ENSEMBL: ENSMUSP00000091442 (fasta)

Gene Model

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

AlphaFold

Q3V061

Predicted Effect

probably damaging
Transcript: ENSMUST00000093914
AA Change: L428Q

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

SMART Domains

Protein: ENSMUSP00000091442
Gene: ENSMUSG00000070332
AA Change: L428Q

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,397,204	I169V	probably damaging	Het
2310007B03Rik	T	C	1: 93,152,946	T413A	probably damaging	Het
4930503B20Rik	C	T	3: 146,650,509	E215K	probably damaging	Het
5830411N06Rik	G	A	7: 140,248,940	V171I	possibly damaging	Het
Abca6	T	C	11: 110,250,408	E29G	probably damaging	Het
Acsm1	A	G	7: 119,640,697	H288R	probably damaging	Het
Adamts12	A	G	15: 11,277,420	T707A	possibly damaging	Het
Adcy2	C	A	13: 68,729,202		probably null	Het
Agbl4	A	T	4: 111,657,330	I513F	possibly damaging	Het
Ak5	A	T	3: 152,656,033	M84K	possibly damaging	Het
Akap1	T	C	11: 88,845,627	T103A	probably benign	Het
Akap9	A	G	5: 4,050,590	T2751A	probably benign	Het
Amer3	A	T	1: 34,588,381	H567L	possibly damaging	Het
Ano6	A	G	15: 95,920,351	Y325C	probably benign	Het
Apba2	A	G	7: 64,695,806	E248G	possibly damaging	Het
Asap2	T	A	12: 21,265,982	V967E	probably damaging	Het
Boc	A	G	16: 44,499,661	V320A	probably damaging	Het
Car13	T	A	3: 14,645,120	Y41N	possibly damaging	Het
Ccdc162	T	C	10: 41,552,356	T1976A	probably benign	Het
Cep295	A	T	9: 15,332,794	H1455Q	probably damaging	Het
Cep295	C	A	9: 15,335,108	S684I	possibly damaging	Het
Cr2	G	T	1: 195,154,273	H861N	probably damaging	Het
Cul5	T	C	9: 53,622,943	I630V	probably benign	Het
Cyp2c37	G	A	19: 39,994,152	V145I	probably benign	Het
Dnmt1	G	A	9: 20,922,147	T500M	probably damaging	Het
Fam161a	T	A	11: 23,015,725	I6N	probably damaging	Het
Fam214a	T	A	9: 75,025,679	V976E	probably damaging	Het
Fry	T	C	5: 150,380,867	V574A	probably damaging	Het
Glb1l3	G	T	9: 26,824,826	L553I	probably benign	Het
Gm1123	T	C	9: 99,014,191	D212G	probably benign	Het
Grin2a	T	A	16: 9,992,226	D103V	probably damaging	Het
Heg1	A	G	16: 33,706,963	I98V	probably benign	Het
Hmcn2	C	A	2: 31,420,812	T3356N	possibly damaging	Het
Hpf1	T	G	8: 60,896,800	I154S	possibly damaging	Het
Ifnar2	A	G	16: 91,404,227	D452G	possibly damaging	Het
Ikbkap	T	C	4: 56,776,920	T626A	possibly damaging	Het
Iqcc	A	T	4: 129,616,527	H398Q	possibly damaging	Het
Iqgap3	T	C	3: 88,117,699	I669T	probably damaging	Het
Itgae	A	G	11: 73,129,248	T859A	probably damaging	Het
Kansl1l	T	C	1: 66,801,344	M266V	probably benign	Het
Kbtbd3	A	G	9: 4,331,426	D600G	possibly damaging	Het
Klf13	G	A	7: 63,891,600		probably benign	Het
Kmt2d	A	G	15: 98,844,397		probably benign	Het
Lama1	A	G	17: 67,802,948	D2188G	probably damaging	Het
Leng8	A	G	7: 4,145,274	T682A	probably damaging	Het
Mslnl	G	T	17: 25,737,842	G34V	possibly damaging	Het
Mycbp2	A	T	14: 103,188,608	S2360R	probably damaging	Het
Mycbp2	C	A	14: 103,188,615		probably null	Het
Nkx2-2	T	C	2: 147,184,399	T140A	probably damaging	Het
Olfr1233	A	T	2: 89,339,705	V199E	possibly damaging	Het
Olfr745	T	C	14: 50,643,067	V262A	probably benign	Het
Oser1	C	T	2: 163,407,045	R79H	probably damaging	Het
Pfas	A	G	11: 68,991,132	V909A	probably damaging	Het
Pkhd1l1	A	G	15: 44,532,992	E1970G	probably benign	Het
Prph2	G	T	17: 46,910,667		probably benign	Het
Rusc2	G	T	4: 43,425,758	A1288S	probably benign	Het
Sdha	A	G	13: 74,323,839		probably null	Het
Sec16a	T	G	2: 26,439,895	T703P	probably benign	Het
Senp7	T	A	16: 56,173,208	N724K	possibly damaging	Het
Skint1	A	G	4: 112,025,502	I248V	probably benign	Het
Slc9a5	T	C	8: 105,357,013	V395A	probably benign	Het
Slco1a4	T	C	6: 141,834,659	N135S	possibly damaging	Het
Sncaip	A	G	18: 52,894,956	I412M	probably damaging	Het
Tacc2	A	T	7: 130,624,051	D841V	possibly damaging	Het
Tekt1	A	T	11: 72,351,837	H281Q	probably benign	Het
Tex46	G	T	4: 136,612,917	M104I	probably benign	Het
Tjp3	T	C	10: 81,278,620		probably null	Het
Treh	A	G	9: 44,682,678	Y154C	probably damaging	Het
Trpm6	A	G	19: 18,853,604	K1278E	probably damaging	Het
Usp34	T	C	11: 23,375,024	M990T	possibly damaging	Het
Vps9d1	A	G	8: 123,247,748	S267P	probably benign	Het
Ywhae	T	C	11: 75,756,924	M160T	probably benign	Het
Zcchc11	G	A	4: 108,557,373	R49H	probably damaging	Het

Other mutations in Trim80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Trim80	APN	11	115447665	missense	probably benign	0.21
IGL00921:Trim80	APN	11	115447664	missense	probably benign	0.00
IGL02948:Trim80	APN	11	115441593	missense	possibly damaging	0.81
IGL03037:Trim80	APN	11	115441593	missense	possibly damaging	0.81
R0019:Trim80	UTSW	11	115447942	missense	probably damaging	1.00
R0019:Trim80	UTSW	11	115447942	missense	probably damaging	1.00
R0409:Trim80	UTSW	11	115441213	missense	probably damaging	1.00
R1069:Trim80	UTSW	11	115448083	missense	probably damaging	1.00
R1832:Trim80	UTSW	11	115446793	missense	probably benign
R1952:Trim80	UTSW	11	115441329	nonsense	probably null
R2892:Trim80	UTSW	11	115448023	missense	possibly damaging	0.81
R4301:Trim80	UTSW	11	115445113	critical splice donor site	probably null
R4748:Trim80	UTSW	11	115448138	missense	possibly damaging	0.84
R4795:Trim80	UTSW	11	115447943	missense	probably damaging	1.00
R4819:Trim80	UTSW	11	115447943	missense	probably damaging	1.00
R4910:Trim80	UTSW	11	115446455	missense	probably damaging	0.99
R5245:Trim80	UTSW	11	115441572	missense	probably damaging	1.00
R5288:Trim80	UTSW	11	115448017	missense	probably benign	0.07
R5384:Trim80	UTSW	11	115448017	missense	probably benign	0.07
R5386:Trim80	UTSW	11	115448017	missense	probably benign	0.07
R5508:Trim80	UTSW	11	115445078	missense	probably benign	0.06
R5785:Trim80	UTSW	11	115446475	nonsense	probably null
R5822:Trim80	UTSW	11	115447921	missense	probably damaging	0.99
R6754:Trim80	UTSW	11	115448174	missense	probably damaging	1.00
R6785:Trim80	UTSW	11	115441201	missense	probably damaging	0.99
R6788:Trim80	UTSW	11	115448017	missense	probably benign	0.07
R7336:Trim80	UTSW	11	115441216	missense	probably damaging	1.00
R8316:Trim80	UTSW	11	115441180	missense	probably damaging	1.00
R8386:Trim80	UTSW	11	115445074	missense	probably damaging	0.99
R8955:Trim80	UTSW	11	115440712	missense	probably benign
R9764:Trim80	UTSW	11	115447931	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- CTTCTCTTGAAGGGTCAGTCTCTG -3'
(R):5'- AGTCTGCAGTGAGAGACCAG -3'

Sequencing Primer
(F):5'- CGAGGTCTGGAGTCTGTAAC -3'
(R):5'- CCAGGAAAGTGAATAAGTAGTGCCC -3'

Posted On

2016-11-08