Mutagenetix > Incidental Mutation

Incidental Mutation 'R5384:Trim80'

424970

Institutional Source

Beutler Lab

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 #

R5384 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115440545-115448270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115448017 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 558 (T558S)

Ref Sequence

ENSEMBL: ENSMUSP00000091442 (fasta)

Gene Model

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

AlphaFold

Q3V061

Predicted Effect

probably benign
Transcript: ENSMUST00000093914
AA Change: T558S

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000091442
Gene: ENSMUSG00000070332
AA Change: T558S

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,469,960 (GRCm38)	V246A	probably benign	Het
Abcc10	T	C	17: 46,304,435 (GRCm38)	S1343G	possibly damaging	Het
Abcd3	C	A	3: 121,761,410 (GRCm38)		probably null	Het
Actl6a	T	A	3: 32,720,493 (GRCm38)	M335K	probably damaging	Het
Adamts9	A	C	6: 92,798,018 (GRCm38)	C1090W	probably damaging	Het
Ajuba	T	C	14: 54,570,398 (GRCm38)	Y459C	probably damaging	Het
Aldh7a1	T	A	18: 56,534,253 (GRCm38)	N316Y	possibly damaging	Het
Ankhd1	A	G	18: 36,591,495 (GRCm38)	E402G	probably damaging	Het
Ankrd36	A	G	11: 5,689,340 (GRCm38)		probably benign	Het
Apeh	A	T	9: 108,086,463 (GRCm38)	L551H	probably damaging	Het
Avpr1a	T	A	10: 122,449,369 (GRCm38)	F189I	probably damaging	Het
BC034090	T	A	1: 155,242,027 (GRCm38)	H115L	possibly damaging	Het
C4b	A	T	17: 34,737,661 (GRCm38)	D654E	possibly damaging	Het
Carns1	T	A	19: 4,171,901 (GRCm38)		probably null	Het
Ccdc146	T	A	5: 21,308,713 (GRCm38)	E469V	probably benign	Het
Cdc27	A	G	11: 104,507,140 (GRCm38)	I804T	probably benign	Het
Cdh23	G	A	10: 60,337,762 (GRCm38)	T1651I	probably damaging	Het
Cenpo	G	A	12: 4,216,646 (GRCm38)	P154L	probably damaging	Het
Cenpu	G	A	8: 46,562,499 (GRCm38)	G150R	probably benign	Het
Chrna10	C	A	7: 102,114,353 (GRCm38)	L78F	probably damaging	Het
Chrne	A	T	11: 70,615,087 (GRCm38)	N457K	possibly damaging	Het
Cidea	A	T	18: 67,360,166 (GRCm38)	D85V	probably damaging	Het
Cldn18	T	C	9: 99,709,858 (GRCm38)	S31G	possibly damaging	Het
Clpb	T	A	7: 101,779,341 (GRCm38)	I436N	probably damaging	Het
Col11a2	T	C	17: 34,059,174 (GRCm38)		probably null	Het
Cul7	T	C	17: 46,654,477 (GRCm38)	V527A	probably benign	Het
Dchs1	T	A	7: 105,772,055 (GRCm38)	D386V	probably damaging	Het
Dchs1	A	C	7: 105,758,029 (GRCm38)	V2119G	probably damaging	Het
Dcstamp	A	C	15: 39,759,319 (GRCm38)	Q345H	probably damaging	Het
Dlgap3	A	G	4: 127,236,330 (GRCm38)	I955V	probably damaging	Het
Dvl1	A	G	4: 155,853,686 (GRCm38)	D97G	probably damaging	Het
Dync2h1	T	C	9: 7,016,791 (GRCm38)	D3573G	probably damaging	Het
Efr3b	G	T	12: 3,983,419 (GRCm38)	F129L	probably benign	Het
Etaa1	G	A	11: 17,947,539 (GRCm38)	L193F	probably damaging	Het
Fam13c	G	A	10: 70,553,069 (GRCm38)	S474N	probably benign	Het
Fam171a2	C	A	11: 102,437,867 (GRCm38)	V689L	possibly damaging	Het
Fastkd3	T	C	13: 68,584,585 (GRCm38)	F342L	probably benign	Het
Fat4	T	C	3: 38,995,946 (GRCm38)	S3986P	possibly damaging	Het
Fbxo38	A	G	18: 62,540,971 (GRCm38)	M13T	probably benign	Het
Fbxo48	G	T	11: 16,954,329 (GRCm38)	L160F	possibly damaging	Het
Fgr	G	A	4: 132,986,353 (GRCm38)		probably null	Het
Gbx2	T	C	1: 89,928,913 (GRCm38)	T252A	probably damaging	Het
Gm20671	A	G	5: 32,819,942 (GRCm38)	S1823P	probably damaging	Het
Gpatch8	A	T	11: 102,508,227 (GRCm38)		probably null	Het
Gsdma	A	T	11: 98,666,449 (GRCm38)		probably null	Het
Gucy2g	G	A	19: 55,215,116 (GRCm38)	A750V	probably damaging	Het
Hdac9	A	G	12: 34,429,558 (GRCm38)	Y223H	probably damaging	Het
Igsf5	C	A	16: 96,391,026 (GRCm38)	T275N	probably benign	Het
Il23r	G	A	6: 67,486,291 (GRCm38)	H73Y	probably benign	Het
Ipo4	G	T	14: 55,626,196 (GRCm38)	R1026S	probably benign	Het
Jade1	T	A	3: 41,591,702 (GRCm38)	I54N	probably damaging	Het
Khdrbs1	G	T	4: 129,741,936 (GRCm38)	D75E	possibly damaging	Het
Lrwd1	A	T	5: 136,123,874 (GRCm38)	D511E	possibly damaging	Het
Ly75	A	T	2: 60,334,487 (GRCm38)	C782*	probably null	Het
Mmp3	C	T	9: 7,451,759 (GRCm38)	R366*	probably null	Het
Mrgpra6	A	G	7: 47,188,881 (GRCm38)	C190R	probably damaging	Het
Mtcl3	A	G	10: 29,196,770 (GRCm38)	D686G	probably benign	Het
Myh10	T	A	11: 68,801,608 (GRCm38)	L1369Q	probably damaging	Het
Myof	C	T	19: 37,952,987 (GRCm38)	A792T	probably damaging	Het
Ncf1	A	G	5: 134,221,805 (GRCm38)	L373P	probably damaging	Het
Ncoa7	C	A	10: 30,722,817 (GRCm38)	A37S	probably benign	Het
Nfkb1	A	G	3: 135,612,542 (GRCm38)	V310A	possibly damaging	Het
Nmur2	T	A	11: 56,040,214 (GRCm38)	I224F	probably damaging	Het
Nr1d2	A	T	14: 18,211,922 (GRCm38)	S394T	probably benign	Het
Nudt12	A	G	17: 59,003,439 (GRCm38)	W390R	probably damaging	Het
Or11g24	T	A	14: 50,425,389 (GRCm38)	V290E	possibly damaging	Het
Or2m13	A	G	16: 19,407,797 (GRCm38)	L73P	probably damaging	Het
Or4a79	T	A	2: 89,721,305 (GRCm38)	I269F	possibly damaging	Het
Or4e1	T	A	14: 52,463,257 (GRCm38)	T251S	probably benign	Het
Or52a20	T	C	7: 103,717,355 (GRCm38)	F254L	probably benign	Het
Pate2	A	G	9: 35,670,541 (GRCm38)	M44V	probably damaging	Het
Pikfyve	T	C	1: 65,244,409 (GRCm38)	L735S	probably damaging	Het
Plce1	C	A	19: 38,760,091 (GRCm38)	N1755K	probably damaging	Het
Pld1	C	A	3: 28,025,320 (GRCm38)	R90S	probably damaging	Het
Pnpla7	C	A	2: 25,041,019 (GRCm38)	P882Q	probably damaging	Het
Pold2	A	G	11: 5,876,760 (GRCm38)	L58P	probably damaging	Het
Ppm1d	A	G	11: 85,311,783 (GRCm38)	E104G	probably damaging	Het
Ppm1e	A	T	11: 87,358,551 (GRCm38)	L118Q	possibly damaging	Het
Ppp1r42	A	G	1: 9,999,435 (GRCm38)	L134P	probably damaging	Het
Prpf8	A	G	11: 75,495,799 (GRCm38)	D1038G	probably damaging	Het
Prss36	C	A	7: 127,936,699 (GRCm38)	R288L	probably damaging	Het
Prss51	T	A	14: 64,097,094 (GRCm38)	V108E	probably damaging	Het
Psma3	G	T	12: 70,974,765 (GRCm38)	G7W	probably damaging	Het
Psmc3ip	A	T	11: 101,092,604 (GRCm38)		probably null	Het
Qser1	T	C	2: 104,786,642 (GRCm38)	E1275G	probably damaging	Het
Rai2	A	G	X: 161,778,640 (GRCm38)	N363S	probably benign	Het
Ranbp17	A	T	11: 33,219,241 (GRCm38)	V991D	possibly damaging	Het
Rcc2	A	T	4: 140,720,566 (GRCm38)	K468*	probably null	Het
S1pr2	T	C	9: 20,967,594 (GRCm38)	T313A	probably benign	Het
Sec1	C	A	7: 45,678,840 (GRCm38)	R261L	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382 (GRCm38)		probably benign	Homo
Sgip1	G	A	4: 102,934,566 (GRCm38)	V362I	possibly damaging	Het
Shroom4	T	A	X: 6,585,469 (GRCm38)	C894*	probably null	Het
Slc12a9	A	T	5: 137,331,014 (GRCm38)	L126Q	probably damaging	Het
Slx4	A	G	16: 3,990,805 (GRCm38)	S424P	probably damaging	Het
Smg5	T	C	3: 88,351,293 (GRCm38)	S524P	probably damaging	Het
Sncaip	A	G	18: 52,885,041 (GRCm38)	D418G	probably damaging	Het
Spata31d1b	C	A	13: 59,718,218 (GRCm38)	T1060K	possibly damaging	Het
Spink6	A	G	18: 44,082,280 (GRCm38)	T66A	probably damaging	Het
Sppl2c	T	A	11: 104,187,301 (GRCm38)	I309K	possibly damaging	Het
Stk39	T	A	2: 68,410,039 (GRCm38)	D116V	probably damaging	Het
Supv3l1	A	T	10: 62,430,596 (GRCm38)	N600K	possibly damaging	Het
Svep1	T	C	4: 58,104,545 (GRCm38)	K1226R	possibly damaging	Het
Syne1	C	T	10: 5,041,494 (GRCm38)	V557I	probably benign	Het
Tas2r117	G	T	6: 132,803,154 (GRCm38)	S85I	probably benign	Het
Tcf20	T	A	15: 82,856,199 (GRCm38)	Q350H	probably damaging	Het
Tep1	A	T	14: 50,868,317 (GRCm38)	L82Q	probably damaging	Het
Tfb2m	A	C	1: 179,545,872 (GRCm38)		probably null	Het
Tm9sf1	C	T	14: 55,642,844 (GRCm38)	G32D	possibly damaging	Het
Tpd52	A	T	3: 8,931,195 (GRCm38)		probably null	Het
Trappc8	A	T	18: 20,833,062 (GRCm38)		probably null	Het
Trbv30	A	G	6: 41,281,920 (GRCm38)	T88A	probably benign	Het
Trim40	T	A	17: 36,888,865 (GRCm38)	N107I	probably damaging	Het
Ttn	A	G	2: 76,878,348 (GRCm38)		probably benign	Het
Vav3	A	G	3: 109,527,475 (GRCm38)	M441V	possibly damaging	Het
Vmn1r42	T	A	6: 89,845,384 (GRCm38)	I68F	probably damaging	Het
Vmn2r118	C	T	17: 55,611,565 (GRCm38)	G109D	probably benign	Het
Vmn2r5	T	A	3: 64,509,510 (GRCm38)	M76L	probably benign	Het
Vwa7	G	T	17: 35,024,926 (GRCm38)		probably null	Het
Xndc1	T	C	7: 102,082,188 (GRCm38)	V378A	probably benign	Het
Zc3h12d	A	T	10: 7,853,250 (GRCm38)	D126V	probably damaging	Het
Zc3h13	A	G	14: 75,343,619 (GRCm38)	N1682S	probably benign	Het
Zc3h15	T	C	2: 83,660,230 (GRCm38)	I236T	possibly damaging	Het
Zfp13	A	T	17: 23,581,182 (GRCm38)	I34N	probably damaging	Het
Zfp169	A	T	13: 48,490,275 (GRCm38)	C459S	possibly damaging	Het
Zfyve28	A	G	5: 34,216,967 (GRCm38)	C568R	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
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
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'- AAGGCTGTCACTACTGGGAG -3'
(R):5'- CTGAACTTTGACCCCTGCAC -3'

Sequencing Primer
(F):5'- AGGCTGAGGTGTCCAACTC -3'
(R):5'- GAGTCTAACTTTATTGGCAGCAAGC -3'

Posted On

2016-08-04