Mutagenetix > Incidental Mutation

Incidental Mutation 'R4748:Trim80'

357322

Institutional Source

Beutler Lab

Gene Symbol

Trim80

Ensembl Gene

ENSMUSG00000070332

Gene Name

tripartite motif-containing 80

Synonyms

4933422H20Rik

MMRRC Submission

042030-MU

Accession Numbers

Essential gene?

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

Stock #

R4748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115440545-115448270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115448138 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 598 (T598N)

Ref Sequence

ENSEMBL: ENSMUSP00000091442 (fasta)

Gene Model

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

AlphaFold

Q3V061

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093914
AA Change: T598N

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091442
Gene: ENSMUSG00000070332
AA Change: T598N

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,856,656 (GRCm38)	E54D	possibly damaging	Het
4933415F23Rik	T	C	1: 23,101,870 (GRCm38)	E121G	probably damaging	Het
Abcb6	C	A	1: 75,177,358 (GRCm38)	G367W	probably damaging	Het
Asprv1	A	G	6: 86,628,423 (GRCm38)	M84V	probably damaging	Het
Aspscr1	T	C	11: 120,701,507 (GRCm38)	V291A	probably damaging	Het
B4galnt4	T	C	7: 141,071,720 (GRCm38)	F980L	probably damaging	Het
Bpi	G	A	2: 158,272,021 (GRCm38)	V280I	possibly damaging	Het
Bptf	T	C	11: 107,095,880 (GRCm38)	D581G	probably damaging	Het
Cap2	T	A	13: 46,639,826 (GRCm38)	Y223N	possibly damaging	Het
Ccdc141	A	C	2: 77,057,980 (GRCm38)	I480M	possibly damaging	Het
Ccnh	T	A	13: 85,189,639 (GRCm38)	V35E	probably benign	Het
Cd6	G	T	19: 10,794,225 (GRCm38)	S433*	probably null	Het
Ceacam10	A	C	7: 24,781,052 (GRCm38)	I83L	probably benign	Het
Chek2	T	C	5: 110,855,839 (GRCm38)		probably null	Het
Chia1	A	T	3: 106,122,449 (GRCm38)	D73V	probably damaging	Het
Commd2	G	A	3: 57,646,794 (GRCm38)	T162I	probably benign	Het
Creb3l3	C	T	10: 81,086,047 (GRCm38)	A316T	probably benign	Het
Cul4a	A	G	8: 13,123,526 (GRCm38)	K1R	probably benign	Het
Cyp2c23	T	C	19: 44,016,737 (GRCm38)		probably null	Het
D630045J12Rik	T	C	6: 38,196,841 (GRCm38)	T131A	possibly damaging	Het
Dctn4	A	C	18: 60,550,236 (GRCm38)	K295N	probably damaging	Het
Dnah1	A	G	14: 31,319,945 (GRCm38)	V23A	probably benign	Het
Dync1i1	A	G	6: 5,767,048 (GRCm38)	K91E	possibly damaging	Het
Dzip1l	A	G	9: 99,642,651 (GRCm38)	D275G	probably damaging	Het
Enam	C	A	5: 88,501,543 (GRCm38)	P304T	probably damaging	Het
Enpep	A	G	3: 129,332,163 (GRCm38)	Y107H	probably damaging	Het
Exd2	T	C	12: 80,480,576 (GRCm38)	L27P	probably damaging	Het
Fam135b	T	A	15: 71,464,055 (GRCm38)	D430V	probably benign	Het
Fam222b	C	T	11: 78,154,603 (GRCm38)	T202I	possibly damaging	Het
Fmod	T	A	1: 134,041,174 (GRCm38)	N317K	probably damaging	Het
Frem2	A	G	3: 53,541,093 (GRCm38)	F2301L	probably damaging	Het
Frem3	T	C	8: 80,611,459 (GRCm38)	F127S	probably damaging	Het
Gbp7	A	G	3: 142,538,087 (GRCm38)	S132G	probably benign	Het
Gm4787	A	G	12: 81,378,056 (GRCm38)	C443R	probably damaging	Het
Grik2	T	C	10: 49,535,341 (GRCm38)	M5V	possibly damaging	Het
Helb	T	C	10: 120,084,849 (GRCm38)	D1063G	probably benign	Het
Kirrel	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Krt90	G	A	15: 101,555,333 (GRCm38)	L429F	probably damaging	Het
Lrr1	C	A	12: 69,174,462 (GRCm38)	T126K	probably benign	Het
Mgat4e	C	A	1: 134,542,028 (GRCm38)	D93Y	probably damaging	Het
Mllt3	A	T	4: 87,840,781 (GRCm38)	S343R	possibly damaging	Het
Mms19	T	A	19: 41,944,558 (GRCm38)	S1031C	probably damaging	Het
Mtrf1	C	T	14: 79,411,650 (GRCm38)	H237Y	probably damaging	Het
Nckap1l	T	A	15: 103,473,056 (GRCm38)	L408Q	probably damaging	Het
Oit3	A	T	10: 59,424,082 (GRCm38)	C500S	probably damaging	Het
Olfr1163	T	A	2: 88,070,612 (GRCm38)	I257L	probably benign	Het
Olfr1238	C	T	2: 89,406,255 (GRCm38)	V275I	probably benign	Het
Olfr273	A	G	4: 52,856,076 (GRCm38)	S146P	possibly damaging	Het
Olfr738	T	G	14: 50,413,876 (GRCm38)	L111V	possibly damaging	Het
Otud7a	T	C	7: 63,735,915 (GRCm38)	S376P	possibly damaging	Het
Pabpc2	A	T	18: 39,774,269 (GRCm38)	K196*	probably null	Het
Paqr8	T	A	1: 20,935,413 (GRCm38)	C264S	probably benign	Het
Pgm2	T	A	4: 99,981,979 (GRCm38)	F459Y	probably benign	Het
Phip	C	A	9: 82,908,869 (GRCm38)	V675L	probably benign	Het
Pnma1	T	G	12: 84,147,723 (GRCm38)	T69P	probably benign	Het
Ptpn12	A	T	5: 21,005,385 (GRCm38)	C242*	probably null	Het
Rabep1	T	A	11: 70,908,468 (GRCm38)	V306E	probably benign	Het
Ros1	C	T	10: 52,115,997 (GRCm38)	D1377N	probably benign	Het
Ryr3	T	C	2: 112,964,405 (GRCm38)	T121A	possibly damaging	Het
Scaf11	G	A	15: 96,420,421 (GRCm38)	Q421*	probably null	Het
Shcbp1	G	A	8: 4,744,512 (GRCm38)	T427M	probably damaging	Het
Shprh	G	A	10: 11,170,476 (GRCm38)	R979H	probably damaging	Het
Slc22a27	C	T	19: 7,925,876 (GRCm38)	C163Y	probably benign	Het
Slc27a1	C	T	8: 71,580,809 (GRCm38)	T310M	possibly damaging	Het
Slc27a1	A	G	8: 71,580,675 (GRCm38)	D287G	probably damaging	Het
Slc29a3	A	G	10: 60,716,326 (GRCm38)	V313A	probably benign	Het
Slc35f2	A	T	9: 53,771,785 (GRCm38)	M1L	probably benign	Het
Sltm	G	C	9: 70,581,365 (GRCm38)	R599T	probably damaging	Het
Spic	T	A	10: 88,675,890 (GRCm38)	Q168L	probably damaging	Het
Spink6	G	A	18: 44,082,361 (GRCm38)		probably null	Het
Stac2	T	C	11: 98,041,372 (GRCm38)	E235G	possibly damaging	Het
Szt2	G	A	4: 118,389,191 (GRCm38)	Q957*	probably null	Het
Them7	A	T	2: 105,378,646 (GRCm38)	T104S	possibly damaging	Het
Tmed4	T	A	11: 6,271,716 (GRCm38)	I207F	possibly damaging	Het
Tmem248	A	G	5: 130,236,890 (GRCm38)	E178G	probably benign	Het
Tomm40l	G	A	1: 171,219,562 (GRCm38)	R296*	probably null	Het
Trim9	T	C	12: 70,248,273 (GRCm38)	N688D	probably damaging	Het
Vil1	C	T	1: 74,421,266 (GRCm38)	A194V	probably damaging	Het
Vmn2r61	A	T	7: 42,267,141 (GRCm38)	M393L	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120 (GRCm38)	M331I	probably benign	Het
Vps33b	G	T	7: 80,290,048 (GRCm38)	A516S	probably damaging	Het
Wisp1	C	A	15: 66,906,640 (GRCm38)	Y103*	probably null	Het
Zc3h6	G	A	2: 129,002,240 (GRCm38)	G235R	probably damaging	Het
Zfp612	T	A	8: 110,088,672 (GRCm38)	D170E	probably benign	Het
Zfp746	A	G	6: 48,064,556 (GRCm38)	I412T	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCCTACTCATGGTGTCTG -3'
(R):5'- TTCTGCCCTGGGAACAATG -3'

Sequencing Primer
(F):5'- CCCTACTCATGGTGTCTGGAGTG -3'
(R):5'- TGGGAACAATGACCCTGGCAC -3'

Posted On

2015-11-11